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ABP1 Gene

protein-coding   GIFtS: 55

GC07P144361
amiloride binding protein 1 (amine oxidase (copper-containing))
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
amiloride binding protein 1 (amine oxidase (copper-containing))1 2     OTTHUMP000002127622
AOC11 2 3     amiloride-binding protein-12
DAO1 2 3     OTTHUMP000002127642
Diamine oxidase2 3     amiloride-sensitive amine oxidase2
Kidney amine oxidase2 3     amiloride-sensitive amine oxidase [copper-containing]2
DAO12 3     OTTHUMP000002127632
ABP2 3     Histaminase3
KAO2 3     EC 1.4.3.223
histaminase2     Amiloride-binding protein3

External Ids:    HGNC: 801   Entrez Gene: 262   Ensembl: ENSG000000027267   UniProtKB: P198013   

Export aliases for ABP1 gene to outside databases

Previous GC identifers: GC07P148796 GC07P149864 GC07P149941 GC07P149987 GC07P150180 GC07P150521


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

Entrez Gene summary for ABP1:
This gene encodes a membrane glycoprotein that is expressed in many epithelium-rich and/or hematopoietic tissues and
oxidatively deaminates putrescine and histamine. The protein may play a role in controlling the level of histamine
and/or putrescine in these tissues. It also binds to and is inhibited by amiloride, a diuretic that acts by closing
epithelial sodium ion channels. (provided by RefSeq)

UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
Function: Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances
involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly
apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function


(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 ABP1 gene promoter:
         AP-1   GR-alpha   Pax-6   deltaCREB   CREB   ARP-1   POU2F1   E47   AREB6   c-Rel   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ABP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 7q34-q36   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q34-qter

ABP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABP1 gene location

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P144361:  view genomic region     (about GC identifiers)

Start:
144,361,618 bp from pter
End:
144,370,427 bp from pter
Size:
8,810 bases
Orientation:
plus strand

1 alternative location:
Chr7+ 150,521,715-150,558,592     
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NT_079596.2  

(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: ABP1_HUMAN, P19801 (See protein sequence)
Recommended Name: Amiloride-sensitive amine oxidase [copper-containing] precursor  
Size: 751 amino acids; 85378 Da
Cofactor: Binds 1 copper ion per subunit (By similarity)
Cofactor: Binds 2 calcium ions per subunit (By similarity)
Cofactor: Contains 1 topaquinone per subunit (By similarity)
Subcellular location: Secreted, extracellular space
Miscellaneous: Inhibited by amiloride in a competitive manner (By similarity)
Sequence caution: Sequence=AAA58358.1; Type=Frameshift; Positions=266, 284, 328, 494, 497, 514, 707, 729;
PDB structures from and Proteopedia :
3HI7 (3D)    3HIG (3D)    3HII (3D)    3K5T (3D)    3MPH (3D)    
Secondary accessions: Q16683 Q16684 Q56II4 Q6GU42
Alternative splicing: 2 isoforms:  P19801-1   P19801-2   

Explore the universe of human proteins at neXtProt for ABP1: NX_P19801 

Post-translational modifications:

  • Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue1


  • REFSEQ proteins: NP_001082.2  

    ENSEMBL proteins: 
    ENSP00000411613 ENSP00000354193 ENSP00000418328 ENSP00000373621 ENSP00000417317 ENSP00000417392 
    ENSP00000418557 ENSP00000417051 ENSP00000390254 ENSP00000418614 


    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
    OriGene Purified Protein: ABP1
    OriGene Protein Over-expression Lysate: ABP1
    GenScript Custom Purified and Recombinant Proteins Services for ABP1 
    Novus Biologicals Proteins for ABP1
    Novus Biologicals Lysate for ABP1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005615 extracellular space IEA--
    GO:0005777 peroxisome NAS1356107
    About this table

    ABP1 for ontologies           About GeneDecksing



    Antibodies for ABP1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ABP1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ABP1 
    Novus Biologicals Antibodies for ABP1
    Epitomics antibodies for ABP1

    Assays for ABP1: 
    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 ABP1 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


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

    ABP1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR015800 Cu_amine_oxidase_N2
     IPR015802 Cu_amine_oxidase_N3
     IPR016182 Cu_amine_oxidase_N-reg
     IPR015801 Cu_amine_oxidase_N2/3
     IPR000269 Cu_amine_oxidase

    Graphical View of Domain Structure for InterPro Entry P19801

    ProtoNet protein and cluster: P19801

    1 Blocks protein family: IPB000269 Copper amine oxidase

    UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
    Similarity: Belongs to the copper/topaquinone oxidase 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: ABP1_HUMAN, P19801
    Function: Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances
    involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly
    apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function
    Catalytic activity: Histamine + H(2)O + O(2) = (imidazol-4-yl)acetaldehyde + NH(3) + H(2)O(2)
    Enzyme Number (IUBMB): EC 1.4.3.22 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ABP1
    Sigma-Aldrich shRNA Panels and shRNA for ABP1
    OriGene 29mer shRNA kits in GFP-retroviral vector: ABP1
    OriGene shRNA RFP: ABP1
    OriGene basic RS shRNA: ABP1
    OriGene siRNA: ABP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ABP1 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ABP1 
    Search SABiosciences for Assays for microRNAs that regulate ABP1

    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: ABP1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ABP1
    OriGene untagged cDNA clones in CMV expression vector: ABP1
    OriGene 3'-UTR clone: ABP1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ABP1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ABP1 

    Genatlas biochemistry entry for ABP1:
    amiloride binding protein 1,expressed in kidney

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507 copper ion binding IEA--
    GO:0008131 primary amine oxidase activity IDA8144586
    GO:0008201 heparin binding IEA--
    GO:0016491 oxidoreductase activity IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    ABP1 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


    ABP1 for pathways           About GeneDecksing

    2 Millipore Pathways for ABP1
        Beta-alanine metabolism
    Tyrosine metabolism p.1 (dopamine)

    5/7 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  ABP1 (see all 7)
        Tyrosine Metabolism
    Tryptophan Metabolism
    Glycine, Serine and Threonine Metabolism
    Histidine Metabolism
    Arginine and Proline Metabolism

    3 Kegg Pathways  (Kegg details for ABP1):
        hsa00330 Arginine and proline metabolism
    hsa00340 Histidine metabolism
    hsa00380 Tryptophan metabolism

        SABiosciences Pathway-Focused PCR Array including ABP1: PAHS-002A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ABP1
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABP1

    5/34 Interacting proteins for ABP1 (ENSP000003736213) via UniProtKB, MINT, and/or STRING (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DBHENSP000002636113STRING: ENSP00000263611
    DDCENSP000003399283STRING: ENSP00000339928
    HDCENSP000002678453STRING: ENSP00000267845
    HNMTENSP000002800973STRING: ENSP00000280097
    ODC1ENSP000002341113STRING: ENSP00000234111
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009308 amine metabolic process IEA--
    GO:0055114 oxidation-reduction process IEA--
    About this table

    ABP1 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

    ABP1 for compounds           About GeneDecksing

    Sigma-Aldrich Small Molecules for ABP1:
    Small Molecule - Inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABP1
    10/48 Novoseek chemical compound relationships for ABP1 gene (see all 48)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydrazine 97.2 426 8645981 (7), 9831324 (7), 2115243 (6), 2121582 (6) (see all 99)
    histamine 79.6 199 18499706 (5), 11603849 (5), 8645981 (4), 17490952 (4) (see all 69)
    putrescine 78.7 27 2124566 (3), 7741045 (2), 9661267 (1), 1417947 (1) (see all 18)
    tele-methylimidazoleacetic acid 77.7 1 8195119 (1)
    cadaverine 75.5 11 19627092 (3), 1417947 (1), 1458548 (1), 17826755 (1) (see all 7)
    spermidine 68.2 12 8348850 (2), 9661267 (1), 2124566 (1), 7882298 (1) (see all 7)
    tele-methylhistamine 67.4 1 17142964 (1)
    spermine 66.9 12 8348850 (2), 9661267 (1), 2124566 (1), 12927050 (1) (see all 8)
    auxin 65.2 61 19777056 (6), 7592943 (5), 17766341 (5), 19669789 (4) (see all 14)
    amine 63.9 21 17142964 (2), 7931266 (1), 8917118 (1), 9405445 (1) (see all 15)
    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
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ABP1
    Sigma-Aldrich shRNA Panels and shRNA for ABP1
    OriGene 29mer shRNA kits in GFP-retroviral vector: ABP1
    OriGene shRNA RFP: ABP1
    OriGene basic RS shRNA: ABP1
    OriGene siRNA: ABP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ABP1 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ABP1 
    Search SABiosciences for Assays for microRNAs that regulate ABP1
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: ABP1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ABP1
    OriGene untagged cDNA clones in CMV expression vector: ABP1
    OriGene 3'-UTR Clone: ABP1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ABP1 
    Primers: OriGene genome-wide validated SYBR primer pairs: ABP1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ABP1: PPH20706A

    REFSEQ mRNAs for ABP1 gene: 

    NM_001091.2  

    Additional cDNA sequence: 

    AK092514.1 AK296638.1 AK307278.1 AK314806.1 BC014093.2 BX648159.1 CR592378.1 CR596790.1 
    CR598361.1 CR600605.1 CR601090.1 CR602032.1 CR603421.1 CR608165.1 CR610042.1 CR611479.1 
    CR615931.1 CR615995.1 CR617118.1 CR617395.1 CR618888.1 CR621626.1 CR622987.1 CR624494.1 
    CR625394.1 CR626724.1 M55602.1 U11862.1 U11863.1 

    24/30 DOTS entries (see all 30):

    DT.100851526  DT.216235  DT.95276223  DT.100866765  DT.100863416  DT.95244222  DT.100868947  DT.100653341 
    DT.95276220  DT.100859438  DT.95276218  DT.100023520  DT.97844407  DT.100640575  DT.100848633  DT.95276231 
    DT.99937658  DT.92447664  DT.100866194  DT.100867969  DT.121114759  DT.100839669  DT.100852174  DT.100853340 

    24/392 AceView cDNA sequences (see all 392):

    BQ326725 CR601090 BG572800 AA078659 CR611479 CR622987 CR602032 CR610042 
    CR596790 AU135756 CR603421 CR618888 BQ023466 AA604046 AA368561 AA035423 
    AA368783 BQ022708 BQ022264 BX399363 CR624494 CR626724 CR598361 AU156260 

    highest scoring ESTs for ABP1:

    AA035423 AA088210 AA088634 AA131933 AA132194 AA368451 AA369084 AA369560 AA531201 AA532507 

    Unigene Cluster for ABP1:

    Amiloride binding protein 1 (amine oxidase (copper-containing))
    Hs.647097  [show with all ESTs]
    Unigene Representative Sequence: BX648159


    GeneLoc Exon Structure

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416793(uc003wia.1) ENST00000360937(uc003whz.1) ENST00000467291
    ENST00000388969 ENST00000480582 ENST00000483043 ENST00000460213 ENST00000487631(uc003why.1)
    ENST00000437714 ENST00000493429

    (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

    ABP1 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching ABP1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37186_s_at2, 3 U95-A 1 1.00 1.00 0.99 0.83 U11863 0.80 1.00 0.91 1
    74904_at2, 3 U95-D 1 0.69 1.00 0.99 1.18 AI984156 0.80 1.00 0.91 1
    203559_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001091 0.60 1.00 0.82 1
    203559_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    ABP1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ABP1 gene expression
    ABP1 gene electronic northern expression
    ABP1 gene sage expression
    About these images

    CGAP SAGE TAG: GCCGACCAGG

    SOURCE GeneReport for Unigene cluster: Hs.647097

    Expression variation in blood from EXPOLDB for ABP1

    UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
    Tissue specificity: Placenta and kidney

    Primers: OriGene genome-wide validated SYBR primer pairs: ABP1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ABP1: PPH20706A
        SABiosciences Expression via Pathway-Focused PCR Array including ABP1: PAHS-002A 


    (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 ABP1 gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABP11   -- amiloride binding protein 1 (amine oxidase (copper-containing)) 83.62(n)
    81.58(a)
    475536  XM_532759.2  XP_532759.1 
    chimpanzee
    (Pan troglodytes)
    ABP11   -- amiloride binding protein 1 (amine oxidase (copper-containing)) 98.89(n)
    99.07(a)
    463895  XM_001136583.1  XP_001136583.1 
    cow
    (Bos taurus)
    ABP11   -- amiloride binding protein 1 (amine oxidase (copper-containing)) 81.66(n)
    78.98(a)
    509751  NM_001034361.1  NP_001029533.1 
    rat
    (Rattus norvegicus)
    Abp11   -- amiloride binding protein 1 (amine oxidase, copper-containing) 81.34(n)
    81.97(a)
    65029  NM_022935.1  NP_075224.1 
    mouse
    (Mus musculus)
    Abp11 , 5 6 (23.78 cM)5
    amiloride binding protein 1 (amine oxidase, copper-containing)1, 5 80.91(n)1
    81.54(a)1
    765071  NM_029638.11  NP_083914.11 
     AA1043355  AA1046465  (see all 14)
    About this table        Species with no ortholog for ABP1

    ENSEMBL Gene Tree for ABP1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for ABP1 gene
    AOC22  AOC32  

    ABP1 for paralogs           About GeneDecksing



    (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

    10/136 NCBI SNPs in ABP1 are shown (see all 136)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs108931,2
    C,F,A,H,150555915(+) AGCCCA/GAGACA 2 P ref1 syn125Minor allele frequency- G:0.50EA MN NA NS WA 2906
    rs121791,2
    C,F,150557622(+) GAGTCA/GGAGCT 2 S syn1 ref117Minor allele frequency- G:0.50EA MN NS NA WA 2442
    rs125391,2
    C,F,150558366(+) TAAACC/TCTCAG 1 -- ut3117Minor allele frequency- T:0.13NS EA NA WA 1238
    rs10497421,2
    C,F,A,H,150554553(+) CTCCTC/TCGGGC 2 S F ref1 mis1 ese3 trp311Minor allele frequency- T:0.07MN EA NS NA 824
    rs10497481,2
    C,F,O,150556002(+) CTGCCC/TAAGTA 2 P syn1 ref127Minor allele frequency- T:0.43EA NA NS WA 3282
    rs10497931,2
    C,F,150557665(+) CCTGGC/GACCCG 2 H D ref1 mis122Minor allele frequency- G:0.50EA MN NS NA WA 2964
    rs20521291,2
    C,F,O,A,150548972(-) TAACGC/ACCACT 1 -- ng5117Minor allele frequency- A:0.15MN EA NS NA WA 2701
    rs20521301,2
    C,F,A,H,150548598(-) GCTAAC/TGTCTT 1 -- ng5112Minor allele frequency- T:0.08MN EA NS NA 814
    rs20715131,2
    C,F,O,150553378(+) ACGGCG/TCTGGG 1 -- int112Minor allele frequency- T:0.11EA NS NA 2122
    rs20715141,2
    C,F,O,150554887(+) TATGCG/AGGGCT 2 /A syn1 ref1 ese317Minor allele frequency- A:0.46EA NA NS WA 2194
    About this table

    HapMap Linkage Disequilibrium images for ABP1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ABP1
         2 CNVs: 3711 7616

    Search QIAGEN SeqTarget long-range PCR primers for resequencing for ABP1 

    (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

    ABP1 for disorders           About GeneDecksing

    OMIM: 104610

    10/30 Novoseek disease relationships for ABP1 gene (see all 30)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple organ failure 39.1 1 17038253 (1)
    nasal polyps 33.2 3 8448680 (2)
    intestinal ischemia 30.8 1 14621695 (1)
    urticaria 29.9 8 2115815 (3), 2115814 (1), 17490952 (1)
    allergy food 27.8 2 9928400 (1), 15054605 (1)
    bowel disease 22.7 5 1935496 (3), 2110916 (1), 9399025 (1)
    allergy 22.2 1 17651147 (1)
    short bowel syndrome 22.2 1 2124566 (1)
    bladder carcinoma 20.7 1 8340919 (1)
    allergic reaction 7.77 4 8823580 (2), 1886031 (1), 17490952 (1)
    About this table

    Human Gene Mutation Database (HGMD): ABP1
    Human Genome Epidemiology (HuGE) Navigator: ABP1 (6 documents)

    Export disorders and mutations for ABP1 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

    10/253 PubMed articles for ABP1 gene, integrated from 7 sources (see all 253):
    (articles sorted by number of sources associating them with ABP1)
    1. The human gene for diamine oxidase, an amiloride binding protein. Molecular cloning, sequencing, and characterization of the promoter. (PubMed id 8182053)1, 2, 3, 7 Chassande O.... Lazdunski M. (1994)
    2. Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues. (PubMed id 8144586)1, 2, 7 Novotny W.F.... Barbry P. (1994)
    3. Human kidney amiloride-binding protein: cDNA structure and functional expression. (PubMed id 2217167)1, 2, 7 Barbry P....Lazdunski M. (1990)
    4. 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)
    5. cDNA sequences of variant forms of human placenta diamine oxidase. (PubMed id 8595053)1, 2 Zhang X.... McIntire W.S. (1995)
    6. An environmentally regulated receptor for diamine oxidase modulates human endothelial cell/fibroblast histamine degradative uptake. (PubMed id 8195119)1, 7 Baenziger N.L....Haddock R.C. (1994)
    7. Soluble intercellular adhesion molecule-1, D-lactate and diamine oxidase in patients with inflammatory bowel disease. (PubMed id 19701972)1, 7 Song W.B....Ma L. (2009)
    8. Genetic variability of human diamine oxidase: occurrence of three nonsynonymous polymorphisms and study of their effect on serum enzyme activity. (PubMed id 17700358)1, 7 Ayuso P....Agundez J.A. (2007)
    9. Wine and headache. (PubMed id 8645981)1, 7 Jarisch R. and Wantke F. (1996)
    10. Localisation of mRNAs for diamine oxidase and histamine receptors H1 and H2, at the feto-maternal interface of human pregnancy. (PubMed id 11603849)1, 7 Brew O.B. and Sullivan M.H. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26 HGNC: 80 AceView: ABP1 Ensembl:ENSG00000002726 euGenes: HUgn26
    ECgene: ABP1 Kegg: 26 H-InvDB: ABP1

    (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)
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    NameDescription
    NIEHS-SNPshttp://egp.gs.washington.edu/data/abp1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for ABP1 gene:
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