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

Gene ID: 1294, updated on 24-Nov-2020

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
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

Genomic context

See COL7A1 in Genome Data Viewer
Location:
3p21.31
Exon count:
120
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48564073..48595329, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48601506..48632593, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene microRNA 6823 Neighboring gene urocortin 2 Neighboring gene microRNA 711 Neighboring gene ubiquinol-cytochrome c reductase core protein 1 Neighboring gene small nucleolar RNA, H/ACA box 94 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
endodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
basement membrane IEA
Inferred from Electronic Annotation
more info
 
collagen type VII trimer TAS
Traceable Author Statement
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    UniProtKB/TrEMBL
    Q59F16
    Related
    ENSP00000332371.8, ENST00000328333.12
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017005688.1XP_016861177.1  collagen alpha-1(VII) chain isoform X2

  2. XM_017005689.1XP_016861178.1  collagen alpha-1(VII) chain isoform X3

  3. XM_017005692.1XP_016861181.1  collagen alpha-1(VII) chain isoform X6

  4. XM_017005691.1XP_016861180.1  collagen alpha-1(VII) chain isoform X5

  5. XM_017005690.1XP_016861179.1  collagen alpha-1(VII) chain isoform X4

RNA

  1. XR_001740005.1 RNA Sequence

  2. XR_001740004.1 RNA Sequence

  3. XR_001740003.1 RNA Sequence

  4. XR_001740006.1 RNA Sequence

  5. XR_001740007.1 RNA Sequence

  6. XR_001740008.1 RNA Sequence

  7. XR_001740009.1 RNA Sequence

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