Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS

Search by expression pattern Search by expression pattern



ALDH18A1 Gene

protein-coding   GIFtS: 56

GC10M090993
aldehyde dehydrogenase 18 family, member A1
(Previous name: pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: GSAS, PYCS)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
aldehyde dehydrogenase 18 family, member A11 2     Aldehyde dehydrogenase family 18 member A12 3
P5CS1 2 3     delta1-pyrroline-5-carboxlate synthetase2
PYCS2 3 5     delta-1-pyrroline-5-carboxylate synthetase2
GSAS2 3 5     delta-1-pyrroline-5-carboxylate synthase2
pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)1 2     MGC1173162

External Ids:    HGNC: 97221   Entrez Gene: 58322   Ensembl: ENSG000000595737   UniProtKB: P548863   

Export aliases for ALDH18A1 gene to outside databases

Previous GC identifer: GC10M097355


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALDH18A1:
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent
mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded
protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo
biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia,
hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and
connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been
described for this gene. (provided by RefSeq)

Gene Wiki entry for ALDH18A1 (Aldehyde dehydrogenase 18 family, member A1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDH18A1 gene promoter:
         IRF-1   ATF-2   Max   c-Myc   GATA-2   GATA-1   GATA-3   ISGF-3   ATF   ATF6   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ALDH18A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ALDH18A1 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.3   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q24.3-q24.6

ALDH18A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH18A1 gene location

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M090993:  view genomic region     (about GC identifiers)

Start:
90,993,396 bp from pter
End:
91,044,247 bp from pter
Size:
50,852 bases
Orientation:
minus strand

1 alternative location:
Chr10- 97,365,696-97,416,463     
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886 (See protein sequence)
Recommended Name: Delta-1-pyrroline-5-carboxylate synthase  
Size: 795 amino acids; 87302 Da
Subcellular location: Mitochondrion inner membrane
Sequence caution: Sequence=BAH12086.1; Type=Erroneous initiation; Sequence=BAH13064.1; Type=Erroneous initiation;
PDB structures from and Proteopedia :
2H5G (3D)    
Secondary accessions: B2R5Q4 B7Z350 B7Z5X8 B7ZLP1 O95952 Q3KQU2 Q5T566 Q5T567 Q9UM72
Alternative splicing: 2 isoforms:  P54886-1   P54886-2   

Explore the universe of human proteins at neXtProt for ALDH18A1: NX_P54886 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001017423.1  NP_002851.2  


    ENSEMBL proteins: 
    ENSP00000360265 ENSP00000360268 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: ALDH18A1
    GenScript Custom Purified and Recombinant Proteins Services for ALDH18A1 
    Novus Biologicals Protein for ALDH18A1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IDA18029348
    GO:0005739 mitochondrion IDA18029348
    GO:0005743 mitochondrial inner membrane EXP10037775
    GO:0016020 membrane IEA--
    About this table

    ALDH18A1 for ontologies           About GeneDecksing



    Antibodies for ALDH18A1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ALDH18A1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ALDH18A1 
    Novus Biologicals Antibodies for ALDH18A1
    Browse antibodies at Epitomics

    Assays for ALDH18A1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ALDH18A1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ALDH18A1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ALDH18A1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR001057 Glu/AcGlu_kinase
     IPR001048 Asp/Glu/Uridylate_kinase
     IPR019797 Glutamate_5-kinase_CS
     IPR020593 G-glutamylP_reductase_CS
     IPR016163 Ald_DH_C

    Graphical View of Domain Structure for InterPro Entry P54886

    ProtoNet protein and cluster: P54886

    2 Blocks protein families:
    IPB000965 Gamma-glutamyl phosphate reductase GPR
    IPB001057 Glutamate 5-kinase


    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
    Similarity: In the N-terminal section; belongs to the glutamate 5-kinase family
    Similarity: In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
    Catalytic activity: ATP + L-glutamate = ADP + L-glutamate 5-phosphate
    Catalytic activity: L-glutamate 5-semialdehyde + phosphate + NADP(+) = L-glutamyl 5-phosphate + NADPH
    Enzyme regulation: Isoform Short is inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long is
    insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition of
    P5CS activity by L-ornithine

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for ALDH18A1
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ALDH18A1
    Sigma-Aldrich shRNA for ALDH18A1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): ALDH18A1
    OriGene shRNA RFP (see all 2): ALDH18A1
    OriGene basic RS shRNA (see all 2): ALDH18A1
    OriGene siRNA (see all 2): ALDH18A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ALDH18A1 
    miRNA:Sigma-Aldrich microRNA Mimics for ALDH18A1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ALDH18A1 
    2 SABiosciences Assays for microRNAs that regulate ALDH18A1:
    hsa-miR-498 hsa-miR-768-5p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ALDH18A1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ALDH18A1
    OriGene untagged cDNA clones in CMV expression vector (see all 3): ALDH18A1
    OriGene 3'-UTR clone (see all 2): ALDH18A1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): ALDH18A1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ALDH18A1 

    5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003824 catalytic activity ----
    GO:0004349 glutamate 5-kinase activity IEA--
    GO:0004350 glutamate-5-semialdehyde dehydrogenase activity IEA--
    GO:0005524 ATP binding IEA--
    About this table

    ALDH18A1 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    ALDH18A1 for pathways           About GeneDecksing

    4 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  ALDH18A1
        Urea Cycle and Metabolism of Amino Groups
    LPS/IL-1 Mediated Inhibition of RXR Function
    Aryl Hydrocarbon Receptor Signaling
    Xenobiotic Metabolism Signaling

    2 Kegg Pathways  (Kegg details for ALDH18A1):
        hsa00330 Arginine and proline metabolism
    hsa01100 Metabolic pathways

    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2

        SABiosciences Custom Pathway-Focused PCR Arrays for ALDH18A1 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ALDH18A1
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH18A1

    5/251 Interacting proteins for ALDH18A1 (P548862 ENSP000003602683) via UniProtKB, MINT, and/or STRING (see all 251)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLUD1P003672, ENSP000002778653MINT-8079030 STRING: ENSP00000277865
    OATP041812, ENSP000003578383MINT-8079030 STRING: ENSP00000357838
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ACAD9Q9H8452MINT-8079030
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006561 proline biosynthetic process IEA--
    GO:0008152 metabolic process ----
    GO:0008652 cellular amino acid biosynthetic process TAS--
    GO:0055114 oxidation-reduction process IEA--
    About this table

    ALDH18A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    ALDH18A1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALDH18A1
    9 Novoseek chemical compound relationships for ALDH18A1 gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    delta(1)pyrroline-5-carboxylate 97.7 38 8761662 (2), 18478038 (2), 9351242 (1), 10037775 (1) (see all 18)
    gamma-glutamyl phosphate 95.3 9 10037775 (1), 8761662 (1), 19606467 (1), 20091669 (1)
    proline 78.8 33 8761662 (4), 19850488 (3), 9351242 (2), 12602867 (2) (see all 14)
    ornithine 67.7 8 10037775 (3), 15517380 (2), 18401542 (1), 11092761 (1) (see all 5)
    citrulline 59.5 1 8761662 (1)
    abscisic acid 58.7 1 17971042 (1)
    glutamate 45.5 13 10037775 (1), 9622938 (1), 18401542 (1), 8761662 (1) (see all 8)
    atp 35.4 7 10037775 (1), 9622938 (1), 18401542 (1), 8761662 (1) (see all 6)
    arginine 24.9 3 18401542 (1), 15517380 (1), 11092761 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for ALDH18A1
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ALDH18A1
    Sigma-Aldrich shRNA for ALDH18A1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): ALDH18A1
    OriGene shRNA RFP (see all 2): ALDH18A1
    OriGene basic RS shRNA (see all 2): ALDH18A1
    OriGene siRNA (see all 2): ALDH18A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ALDH18A1 
    miRNA: Sigma-Aldrich microRNA Mimics for ALDH18A1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ALDH18A1 
    2 SABiosciences Assays for microRNAs that regulate ALDH18A1:
    hsa-miR-498 hsa-miR-768-5p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ALDH18A1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ALDH18A1
    OriGene untagged cDNA clones in CMV expression vector (see all 3): ALDH18A1
    OriGene 3'-UTR Clone (see all 2): ALDH18A1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): ALDH18A1 
    Primers: OriGene genome-wide validated SYBR primer pairs: ALDH18A1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ALDH18A1: PPH11289A

    REFSEQ mRNAs for ALDH18A1 gene (2 alternative transcripts): 

    NM_001017423.1  NM_002860.3  

    Additional cDNA sequence: 

    AK225455.1 AK225465.1 AK226032.1 AK295487.1 AK299557.1 AK312271.1 BC106054.1 BC117240.1 
    BC117242.1 BC143930.1 CR604316.1 U68758.1 U76542.1 X94453.1 

    15 DOTS entries:

    DT.446840  DT.100773958  DT.101974781  DT.86849373  DT.121300462  DT.121300484  DT.100790734  DT.121300475 
    DT.91764871  DT.100790732  DT.100790741  DT.121300487  DT.91668230  DT.97812791  DT.100733591 

    24/310 AceView cDNA sequences (see all 310):

    BE019630 BQ440615 AI887715 AL046750 BE292925 AI284961 AW242605 CR604316 
    AL528152 BM477573 BM835105 CB216248 AI308938 BX400895 AI613223 CN485058 
    BP363881 AI283222 AI633403 BM783836 AW192932 AA552542 BQ218017 BM971124 

    highest scoring ESTs for ALDH18A1:

    AA216563 AA232355 AL046750 AL528152 AU127093 BG480829 BI598877 BI771087 BI837037 BI838031 

    Unigene Cluster for ALDH18A1:

    Aldehyde dehydrogenase 18 family, member A1
    Hs.500645  [show with all ESTs]
    Unigene Representative Sequence: NM_002860


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH18A1 (see all 8)

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
    SP1:                          -                                                                 -                                         -                     
    SP2:                                                                                            -                                         -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                          -                 -     -     -                                                                                                   

    ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:              -               
    SP2:              -               
    SP3:                              
    SP4:                              
    SP5:                              

    About this scheme

    ECgene alternative splicing isoforms for ALDH18A1
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371221 ENST00000485428 ENST00000371224(uc001kky.2 uc001kkz.2 uc010qog.1 uc010qoh.1)
    ENST00000489386 ENST00000483788

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    ALDH18A1 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching ALDH18A1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    222416_at2, 3 U133-B 1 1.00 1.00 -- -- U76542 0.80 1.00 0.91 1
    217791_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002860 0.60 1.00 0.82 1
    222416_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    217791_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ALDH18A1 gene expression
    ALDH18A1 gene electronic northern expression
    ALDH18A1 gene sage expression
    About these images

    CGAP SAGE TAG: TAGTCATCTT

    SOURCE GeneReport for Unigene cluster: Hs.500645
    Primers: OriGene genome-wide validated SYBR primer pairs: ALDH18A1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ALDH18A1: PPH11289A
        SABiosciences Custom PCR Arrays for ALDH18A1 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for ALDH18A1 gene from 5/19 species (see all 19)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ALDH18A11   -- aldehyde dehydrogenase 18 family, member A1 91.66(n)
    97.11(a)
    477781  XM_534976.2  XP_534976.2 
    chimpanzee
    (Pan troglodytes)
    ALDH18A11   -- aldehyde dehydrogenase 18 family, member A1 94.37(n)
    93.32(a)
    450629  XM_507942.2  XP_507942.2 
    cow
    (Bos taurus)
    ALDH18A11   -- aldehyde dehydrogenase 18 family, member A1 91.15(n)
    97.11(a)
    514759  NM_001046181.1  NP_001039646.1 
    rat
    (Rattus norvegicus)
    Pycs1   -- pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde more 87.74(n)
    95.45(a)
    361755  XM_342048.3  XP_342049.3 
    mouse
    (Mus musculus)
    Aldh18a11 , 5 19 (34.25 cM)5
    aldehyde dehydrogenase 18 family, member A11, 5 87.56(n)1
    95.59(a)1
    564541  NM_019698.11  NP_062672.11 
     AF0565735  AF0565745  (see all 52)
    About this table        Species with no ortholog for ALDH18A1

    ENSEMBL Gene Tree for ALDH18A1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/522 NCBI SNPs in ALDH18A1 are shown (see all 522)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs40371,2
    C,F,O,A,97365820(+) TTCAAG/ACATCA 2 -- ut3113Minor allele frequency- A:0.18MN NA NS EA 906
    rs87581,2
    C,F,A,H,97366107(-) ACATGT/CAGTCA 2 -- ut31 ese312Minor allele frequency- C:0.33MN NA EA WA 635
    rs3832121,2
    --97380504(+) agatcA/Tcttgg 2 -- int10--------
    rs4839201,2
    C,F,O,A,H,97370600(+) CTCCAC/TCATTG 2 -- int115Minor allele frequency- T:0.31EA NA NS 786
    rs4964261,2
    C,F,O,A,H,97366834(+) CCCAGG/AAGAGC 2 -- int117Minor allele frequency- A:0.25EA NA NS WA 704
    rs4973311,2
    C,F,A,H,97370331(+) agactG/Tcctag 2 -- int114Minor allele frequency- T:0.13NS EA NA WA 624
    rs4997141,2
    C,F,H97379874(+) aagtgG/Tgcaaa 2 -- int14Minor allele frequency- T:0.33NA 12
    rs5018191,2
    C,F,A,97383926(+) TTTTGC/AGGATA 2 -- int110Minor allele frequency- A:0.47NS EA NA WA 630
    rs5070171,2
    C,F,A97380662(+) tgcacG/Attgtg 2 -- int12Minor allele frequency- A:0.50NA 4
    rs5354491,2
    C,F,A,97378785(+) TTTTGA/GTTAAA 2 -- int19Minor allele frequency- G:0.48NS EA NA WA 578
    About this table

    HapMap Linkage Disequilibrium images for ALDH18A1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALDH18A1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing ALDH18A1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ALDH18A1 for disorders           About GeneDecksing

    OMIM: 138250   disorders: 612652  

    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886

  • Defects in ALDH18A1 are the cause of mental retardation-joint hypermobility-skin laxity with or without
  • metabolic abnormalities (MRJHSL) [MIM:612652]. Clinical manifestations include microcephaly, progressive neurologic
    dysfunction, mental retardation, progeroid appearance, joint hypermobility, skin laxity and hyperelasticity,
    cataracts. Some patients manifest metabolic disturbances such as hyperammonemia, hypoornithinemia, hypocitrullinemia,
    hypoargininemia and hypoprolinemia

    5 Novoseek disease relationships for ALDH18A1 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperammonemia 71.5 1 8761662 (1)
    cataract subcapsular 67.4 1 11092761 (1)
    mental retardation 46.4 1 8761662 (1)
    cataract 45.5 5 8761662 (1), 18478038 (1), 11092761 (1)
    neurodegeneration 38.7 5 11092761 (2), 18478038 (1)
    About this table

    Human Gene Mutation Database (HGMD): ALDH18A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH18A1 (5 documents)

    Export disorders and mutations for ALDH18A1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/35 PubMed articles for ALDH18A1 gene, integrated from 7 sources (see all 35):
    (articles sorted by number of sources associating them with ALDH18A1)
    1. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5- carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. (PubMed id 18478038)1, 2, 7 Bicknell L.S....Robertson S.P. (2008)
    2. Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. (PubMed id 8761662)1, 2, 7 Aral B.... Kamoun P. (1996)
    3. Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. (PubMed id 10037775)1, 2, 7 Hu C.A.... Valle D. (1999)
    4. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. (PubMed id 11092761)1, 2, 7 Baumgartner M.R.... Valle D. (2000)
    5. Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization. (PubMed id 8921385)1, 3, 7 Liu G....Aral B. (1996)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    8. Human Delta1-pyrroline-5-carboxylate synthase: function and regulation. (PubMed id 18401542)1, 7 Hu C.A....Valle D. (2008)
    9. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. (PubMed id 15517380)1, 7 Baumgartner M.R....Saudubray J.M. (2005)
    10. Association of variants within APOE, SORL1, RUNX1, BA CE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syn drome. (PubMed id 20946940)1 Patel A....Prasher V.P. (2011 Jan 7)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5832 HGNC: 9722 AceView: ALDH18A1 Ensembl:ENSG00000059573 euGenes: HUgn5832
    ECgene: ALDH18A1 Kegg: 5832 H-InvDB: ALDH18A1

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for ALDH18A1 gene:
    Search GeneIP for patents involving ALDH18A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for ALDH18A1 Antibodies for ALDH18A1
     Super-pooled esiRNAs for ALDH18A1 Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ALDH18A1 microRNA Mimics for ALDH18A1
     "Your Favorite Gene" Pathways and Molecular Interaction Networks Nano Scale siRNA for ALDH18A1
     Browse iPSC Reprogramming Factors at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
     Browse FLAG tag genes at Sigma-Aldrich Browse ELISAs at Sigma-Aldrich
     Browse microRNA Target Validation Systems at Sigma-Aldrich Browse CompoZr Knockout ZFN at Sigma-Aldrich
    feedback
      
     Antibodies   Cell Culture Products  
     ELISAs   Flow Cytometry Kits  
     Primer Pairs   Kinase Activity Assays/Reagents  
     ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays  
     Apoptosis Detection Kits/Reagents   Protease Activity Assays/Reagents  
     DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents  
     Cell Selection/Detection Kits/Reagents   ELISA/Assay Development Kits/Reagents  
     Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins  
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Lysates
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     siRNA
     Custom Immunoassay Development
     Fluorogenic Cell Assay Kits
     miRNA Primers for qPCR Assays
     3' UTR Clones for miRNA Target Studies
     miRNA Expression Plasmids

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ALDH18A1
     SeqTarget long-range PCR primers for resequencing ALDH18A1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ALDH18A1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ALDH18A1
     GenScript Custom Purified and Recombinant Proteins Services for ALDH18A1 GenScript cDNA clones with any tag delivered in your preferred vector for ALDH18A1
     GenScript Custom Assay Services for ALDH18A1 GenScript Custom Superior Antibodies Services for ALDH18A1
     GenScript Custom overexpressing Cell Line Services for ALDH18A1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ALDH18A1 promoter
     Search Chromatin IP Primers for ALDH18A1
     RT2 qPCR Primer Assay for ALDH18A1
     Search GNC Networks for ALDH18A1
     Assays for microRNAs that regulate ALDH18A1
     SABiosciences Custom PCR Arrays for ALDH18A1
     Search Tocris compounds for ALDH18A1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Antibodies for ALDH18A1
     Proteins for ALDH18A1
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     ELISAs and CLIAs for ALDH18A1
           

    GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

    View Random Gene

    Category
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    ALDH18A1 gene at Home site.
    hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4