AutismKB 2.0

Annotation Details for COL7A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL7A1 ( EBD1,EBDCT,EBR1 )
Gene Full Name: collagen, type VII, alpha 1
Band: 3p21.31
Quick LinksEntrez ID:1294; OMIM: 120120; Uniprot ID:CO7A1_HUMAN; ENSEMBL ID: ENSG00000114270; HGNC ID: 2214
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005576TAS-extracellular region-
GO:0005590TAS-collagen type VII trimer9375848
GO:0005604IEA-basement membrane-
GO:0005615IDA-extracellular space22664934
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0030134TAS-ER to Golgi transport vesicle-
GO:0031012ISScolocalizes_withextracellular matrix22261194
GO:0033116TAS-endoplasmic reticulum-Golgi intermediate compartment membrane-
GO ID Evidence Qualifier GO_term References
GO:0004867IEA-serine-type endopeptidase inhibitor activity-
GO:0005515IPI-protein binding19269366
GO:0042802IEA-identical protein binding-
GO ID Evidence Qualifier GO_term References
GO:0006888TAS-ER to Golgi vesicle-mediated transport-
GO:0007155IEA-cell adhesion-
GO:0008544TAS-epidermis development8170945
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0030198TAS-extracellular matrix organization-
GO:0030574TAS-collagen catabolic process-
GO:0035987IEP-endodermal cell differentiation23154389
GO:0048208TAS-COPII vesicle coating-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
COL7A1COL1A11076919169408 Reconstituted Complex
COL7A1COL1A11076749169408 Reconstituted Complex
COL7A1COL4A11076799169408 Reconstituted Complex
COL7A1COL4A11076919169408 Reconstituted Complex
FN1COL7A11076917963647 9169408 Reconstituted Complex
FN1COL7A11086217963647 9169408 Reconstituted Complex
LAMA5COL7A11076919245798 Affinity Capture-Western; Reconstituted Complex
LAMA5COL7A11101059245798 Affinity Capture-Western; Reconstituted Complex
THBS1COL7A11076919840442 Two-hybrid
THBS1COL7A11129159840442 Two-hybrid
LAMB3COL7A11076919989793 Reconstituted Complex
LAMB3COL7A11101089989793 Reconstituted Complex
LAMC2COL7A11076919989793 Reconstituted Complex
LAMC2COL7A11101129989793 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88462
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved