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    COL7A1 collagen type VII alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 1294, updated on 9-Dec-2024

    Summary

    Official Symbol
    COL7A1provided by HGNC
    Official Full Name
    collagen type VII alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2214
    See related
    Ensembl:ENSG00000114270 MIM:120120; AllianceGenome:HGNC:2214
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EBD1; EBR1; EBDCT; NDNC8
    Summary
    This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 63.4), endometrium (RPKM 13.0) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COL7A1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    120
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48564073..48595329, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48593030..48624289, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48601506..48632762, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48587865-48588528 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48588529-48589190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48589191-48589854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48589855-48590516 Neighboring gene microRNA 6823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48596699-48597640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48605535-48606482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48607079-48607628 Neighboring gene urocortin 2 Neighboring gene microRNA 711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48625763-48626466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48626467-48627168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48638465-48638965 Neighboring gene ubiquinol-cytochrome c reductase core protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48647149-48647663 Neighboring gene small nucleolar RNA, H/ACA box 94 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48651179-48651678 Neighboring gene transmembrane protein 89

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    collagen alpha-1(VII) chain
    Names
    LC collagen
    collagen VII, alpha-1 polypeptide
    collagen, type VII, alpha 1
    long-chain collagen

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007065.1 RefSeqGene

      Range
      5093..36180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_286

    mRNA and Protein(s)

    1. NM_000094.4NP_000085.1  collagen alpha-1(VII) chain precursor

      See identical proteins and their annotated locations for NP_000085.1

      Status: REVIEWED

      Source sequence(s)
      AC121252
      Consensus CDS
      CCDS2773.1
      UniProtKB/Swiss-Prot
      Q02388, Q14054, Q16507
      Related
      ENSP00000506558.1, ENST00000681320.1
      Conserved Domains (6) summary
      pfam01391
      Location:21082166
      Collagen; Collagen triple helix repeat (20 copies)
      cd00063
      Location:687771
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00109
      Location:28742930
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      cd01482
      Location:37201
      vWA_collagen_alphaI-XII-like; Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different ...
      pfam00041
      Location:233317
      fn3; Fibronectin type III domain
      pfam00092
      Location:10541227
      VWA; von Willebrand factor type A domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48564073..48595329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005688.2XP_016861177.1  collagen alpha-1(VII) chain isoform X1

    2. XM_017005689.2XP_016861178.1  collagen alpha-1(VII) chain isoform X2

    3. XM_017005692.2XP_016861181.1  collagen alpha-1(VII) chain isoform X5

    4. XM_017005691.2XP_016861180.1  collagen alpha-1(VII) chain isoform X4

    5. XM_017005690.2XP_016861179.1  collagen alpha-1(VII) chain isoform X3

    RNA

    1. XR_001740005.2 RNA Sequence

    2. XR_001740004.2 RNA Sequence

    3. XR_001740003.2 RNA Sequence

    4. XR_001740006.2 RNA Sequence

    5. XR_001740007.2 RNA Sequence

    6. XR_001740008.2 RNA Sequence

    7. XR_001740009.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48593030..48624289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345171.1XP_054201146.1  collagen alpha-1(VII) chain isoform X1

    2. XM_054345172.1XP_054201147.1  collagen alpha-1(VII) chain isoform X2

    3. XM_054345176.1XP_054201151.1  collagen alpha-1(VII) chain isoform X5

    4. XM_054345173.1XP_054201148.1  collagen alpha-1(VII) chain isoform X6

    5. XM_054345175.1XP_054201150.1  collagen alpha-1(VII) chain isoform X4

    6. XM_054345174.1XP_054201149.1  collagen alpha-1(VII) chain isoform X3

    7. XM_054345177.1XP_054201152.1  collagen alpha-1(VII) chain isoform X7

    8. XM_054345178.1XP_054201153.1  collagen alpha-1(VII) chain isoform X8

    9. XM_054345179.1XP_054201154.1  collagen alpha-1(VII) chain isoform X9

    RNA

    1. XR_008486647.1 RNA Sequence

    2. XR_008486646.1 RNA Sequence

    3. XR_008486645.1 RNA Sequence