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HMCN1 Gene

protein-coding   GIFtS: 52

GC01P156939
hemicentin 1
(Previous name: age-related macular degeneration 1 (senile macular degeneration) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ARMD1)
Products    

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

Aliases & Descriptions
hemicentin 11 2     age-related macular degeneration 1 (senile macular degeneration)1
FIBL61 2 3 5     fibulin-62
FIBL-61 2 3     hemicentin-12
FBLN61 2 5     Fibulin-63
ARMD12 5     

External Ids:    HGNC: 191941   Entrez Gene: 838722   Ensembl: ENSG000001433417   UniProtKB: Q96RW73   

Export aliases for HMCN1 gene to outside databases

Previous GC identifers: GC01P182436 GC01P183970 GC01P185703


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

Entrez Gene summary for HMCN1:
This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms
long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the
germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the
epidermis. Mutations in this gene may be associated with age-related macular degeneration. (provided by RefSeq)

Gene Wiki entry for HMCN1

(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 HMCN1 gene promoter:
         FOXD1   FOXF2   GATA-3   GATA-1   GATA-2   MEF-2A   SRF   ISGF-3   FOXJ2 (long isoform)   E47   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HMCN1

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: 1q25.3-q31.1   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25.3-q31.1

HMCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMCN1 gene location

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P156939:  view genomic region     (about GC identifiers)

Start:
156,938,491 bp from pter
End:
157,394,637 bp from pter
Size:
456,147 bases
Orientation:
plus strand

1 alternative location:
Chr1+ 185,703,683-186,160,085     
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  

(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: HMCN1_HUMAN, Q96RW7 (See protein sequence)
Recommended Name: Hemicentin-1 precursor  
Size: 5635 amino acids; 613390 Da
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
Sequence caution: Sequence=BAB71154.1; Type=Frameshift; Positions=657; Sequence=BAB71216.1; Type=Erroneous initiation;
Secondary accessions: A6NGE3 Q5TYR7 Q96DN3 Q96DN8 Q96SC3
Alternative splicing: 3 isoforms:  Q96RW7-1   Q96RW7-2   Q96RW7-3   

Explore the universe of human proteins at neXtProt for HMCN1: NX_Q96RW7 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_114141.2  

    ENSEMBL proteins: 
    ENSP00000271588 ENSP00000406205 ENSP00000356462 


    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
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for HMCN1 
    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:0005576 extracellular region IEA--
    GO:0005604 basement membrane IEA--
    GO:0005938 cell cortex ----
    GO:0030054 cell junction ----
    About this table

    HMCN1 for ontologies           About GeneDecksing



    Antibodies for HMCN1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for HMCN1 
    Browse antibodies at Epitomics

    Assays for HMCN1: 
    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 HMCN1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for HMCN1 


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

    HMCN1 for domains           About GeneDecksing

    5/17 InterPro domains/families (see all 17):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR007110 Ig-like
     IPR003599 Ig_sub
     IPR001881 EGF_Ca-bd

    Graphical View of Domain Structure for InterPro Entry Q96RW7

    ProtoNet protein and cluster: Q96RW7

    5/6 Blocks protein families (see all 6):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000875 Cecropin
    IPB001881 EGF-like calcium-binding
    IPB002126 Cadherin
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
    Similarity: Contains 7 EGF-like domains
    Similarity: Contains 44 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 nidogen G2 beta-barrel domain
    Similarity: Contains 6 TSP type-1 domains
    Similarity: Contains 1 VWFA domain


    (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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for HMCN1
    Sigma-Aldrich shRNA Panels and shRNA for HMCN1
    OriGene 29mer shRNA kits in GFP-retroviral vector: HMCN1
    OriGene shRNA RFP: HMCN1
    OriGene basic RS shRNA: HMCN1
    OriGene siRNA: HMCN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HMCN1 
    miRNA:Sigma-Aldrich microRNA Mimics for HMCN1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HMCN1 
    7 SABiosciences Assays for microRNAs that regulate HMCN1:
    hsa-miR-182 hsa-miR-199a-5p hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-548c-3p hsa-miR-29b

    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: HMCN1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HMCN1
    OriGene untagged cDNA clones in CMV expression vector: HMCN1
    OriGene 3'-UTR clone: HMCN1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for HMCN1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for HMCN1 

    2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222 metalloendopeptidase activity ----
    GO:0005509 calcium ion binding IEA--
    About this table

    HMCN1 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

        SABiosciences Custom Pathway-Focused PCR Arrays for HMCN1 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HMCN1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis ----
    GO:0007601 visual perception IEA--
    GO:0008218 bioluminescence IEA--
    GO:0018298 protein-chromophore linkage IEA--
    GO:0050896 response to stimulus IEA--
    About this table

    HMCN1 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
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMCN1


    (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 HMCN1
    Sigma-Aldrich shRNA Panels and shRNA for HMCN1
    OriGene 29mer shRNA kits in GFP-retroviral vector: HMCN1
    OriGene shRNA RFP: HMCN1
    OriGene basic RS shRNA: HMCN1
    OriGene siRNA: HMCN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HMCN1 
    miRNA: Sigma-Aldrich microRNA Mimics for HMCN1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HMCN1 
    7 SABiosciences Assays for microRNAs that regulate HMCN1:
    hsa-miR-182 hsa-miR-199a-5p hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-548c-3p hsa-miR-29b
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HMCN1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HMCN1
    OriGene untagged cDNA clones in CMV expression vector: HMCN1
    OriGene 3'-UTR Clone: HMCN1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for HMCN1 
    Primers: OriGene genome-wide validated SYBR primer pairs: HMCN1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HMCN1: PPH17142A

    REFSEQ mRNAs for HMCN1 gene: 

    NM_031935.2  

    Additional cDNA sequence: 

    AF156100.1 AJ306906.1 AK027344.1 AK056336.1 AK056557.1 AK096452.1 AL833232.1 BC139908.1 

    6 DOTS entries:

    DT.426313  DT.121423978  DT.95113331  DT.100681143  DT.91664556  DT.97825451 

    24/49 AceView cDNA sequences (see all 49):

    BQ722715 AK096452 BQ425569 AK056336 BU622124 AL833232 AJ306906 AK027344 
    NM_031935 D62730 CB999578 CA420501 CD511728 BG149239 BX503106 AI298034 
    AI679767 AK056557 BE328248 BF356611 AF156100 AI681770 BQ006694 BE043096 

    highest scoring ESTs for HMCN1:

    AI681770 AA135903 AA379823 AF156100 AI298034 AI679767 AJ306906 AK027344 AK096452 AL833232 

    Unigene Cluster for HMCN1:

    Hemicentin 1
    Hs.58877  [show with all ESTs]
    Unigene Representative Sequence: NM_031935


    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HMCN1

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b
    SP1:                                                                                                                                                      
    SP2:                                                                                                                          -                           

    About this scheme

    ECgene alternative splicing isoforms for HMCN1
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271588(uc001grq.1) ENST00000485744(uc001grr.1) ENST00000493413
    ENST00000475585 ENST00000414277 ENST00000367492(uc001grs.1)

    (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

    HMCN1 expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching HMCN1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    83173_at2, 3 U95-E 1 0.50 1.00 1.00 1.00 AI681770 1.00 1.00 1.00 1
    235944_at2, 3 U133-B 1 0.64 1.00 -- -- BF446673 0.80 1.00 0.91 1
    235944_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    About this table

    HMCN1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    HMCN1 gene expression
    HMCN1 gene electronic northern expression
    HMCN1 gene sage expression
    About these images

    CGAP SAGE TAG: GTGGTAATAG

    SOURCE GeneReport for Unigene cluster: Hs.58877

    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
    Tissue specificity: Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE)
    cells

    Primers: OriGene genome-wide validated SYBR primer pairs: HMCN1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HMCN1: PPH17142A
        SABiosciences Custom PCR Arrays for HMCN1 


    (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 HMCN1 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HMCN11   -- hemicentin 1 90.97(n)
    91.16(a)
    490318  XM_547438.2  XP_547438.2 
    chimpanzee
    (Pan troglodytes)
    HMCN11   -- hemicentin 1 99.51(n)
    99.27(a)
    457586  XM_514061.2  XP_514061.2 
    cow
    (Bos taurus)
    HMCN11   -- hemicentin 1 89.58(n)
    90.08(a)
    521326  XM_599586.3  XP_599586.3 
    rat
    (Rattus norvegicus)
    Hmcn11   -- hemicentin 1 85.2(n)
    86.61(a)
    289094  XM_222716.4  XP_222716.4 
    mouse
    (Mus musculus)
    Hmcn21 , 5 2 (21.81 cM)5
    hemicentin 21, 5 50.46(n)1
    41.71(a)1
    6657001  XM_978791.11  XP_983885.11 
     AK0837015  BC0340765  (see all 6)
    About this table        Species with no ortholog for HMCN1

    ENSEMBL Gene Tree for HMCN1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for HMCN1 gene
    VCAM12  IGSF102  HMCN22  HSPG22  MXRA52  LOC1002892002  

    HMCN1 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

    10/3794 NCBI SNPs in HMCN1 are shown (see all 3794)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs5843181,2
    H186143878(-) ATTGTA/GACAAG 1 -- int18Minor allele frequency- G:0.00NA EA MN NS 834
    rs5867271,2
    C,F,O,A,186155692(-) AAACCG/AATGGT 1 -- int117Minor allele frequency- A:0.16NS EA NA WA 1106
    rs5872091,2
    C,F,A,H,186155555(-) cagctT/Accaga 1 -- int16Minor allele frequency- A:0.21NA WA 14
    rs6287481,2
    C,H,186159835(-) CCAAAC/TCTGTC 1 -- ut316Minor allele frequency- T:0.00NA WA 12
    rs6380461,2
    --186089717(+) AAACTT/AAACTG 1 -- int11Minor allele frequency- A:0.00MN 184
    rs6521111,2
    C186158240(+) TTCACC/TTTTTA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs6763171,2
    C,F,A,186155542(-) agctgG/Agacta 1 -- int15Minor allele frequency- A:0.50NA WA 10
    rs6806381,2
    C,F,O,A,186156514(+) GAATTC/TATAAC 1 -- int129Minor allele frequency- N:0.00MN EA NA NS WA 2258
    rs6825681,2
    C,F,A,186156052(-) TACAAT/CTCTTA 1 -- int115Minor allele frequency- C:0.14NA EA NS WA 1136
    rs6854861,2
    C,H,186136580(-) ccgccC/Gtggtg 1 -- int110Minor allele frequency- G:0.00NS EA NA WA 430
    About this table

    HapMap Linkage Disequilibrium images for HMCN1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for HMCN1
         9 CNVs: 97584 97583 65402 74814 74811 97585 84708 43748 84709
         3 Indels: 74813 74812 44478

    QIAGEN SeqTarget long-range PCR primers for resequencing HMCN1 

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

    HMCN1 for disorders           About GeneDecksing

    OMIM: 608548   disorders: 603075  

    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7

  • Defects in HMCN1 are a cause of age-related macular degeneration type 1 (ARMD1) [MIM:603075]. ARMD is a
  • multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most
    patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known
    as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane

    Human Gene Mutation Database (HGMD): HMCN1
    Genetic Association Database (GAD): HMCN1
    Human Genome Epidemiology (HuGE) Navigator: HMCN1 (9 documents)

    Export disorders and mutations for HMCN1 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

    10/26 PubMed articles for HMCN1 gene, integrated from 7 sources (see all 26):
    (articles sorted by number of sources associating them with HMCN1)
    1. Analysis of the ARMD1 locus: evidence that a mutation in hemicentin-1 is associated with age-related macular degeneration in a large family. (PubMed id 14570714)1, 2, 7 Schultz D.W.... Acott T.S. (2003)
    2. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PubMed id 15370542)1, 4, 7 Hayashi M....Allikmets R. (2004)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients. (PubMed id 15467524)1, 4 McKay G.J....Simpson D.A. (2004)
    6. Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions. (PubMed id 11222143)1, 3 Vogel B.E. and Hedgecock E.M. (2001)
    7. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). (PubMed id 17216616)1, 7 Fisher S.A....Weber B.H. (2007)
    8. Fibulin-6 expression and anoikis in human salivary gland epithelial cells: implications in Sjogren's syndrome. (PubMed id 19190085)1, 7 Sisto M....Lisi S. (2009)
    9. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. (PubMed id 16885922)1, 7 Seitsonen S....Jarvela I. (2006)
    10. Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration. (PubMed id 17057786)1, 7 Bojanowski C.M....Chan C.C. (2005)

    (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)
    About This Section
    Entrez Gene: 83872 HGNC: 19194 AceView: FIBL-6 Ensembl:ENSG00000143341 euGenes: HUgn83872
    ECgene: HMCN1 H-InvDB: HMCN1

    (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
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HMCN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for HMCN1 gene:
    Search GeneIP for patents involving HMCN1

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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     ELISAs and CLIAs for HMCN1
           

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