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COL5A1

GENERAL INFORMATION

Gene name

 COL5A1

Gene description

 Collagen, type V, alpha 1

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Tissue enhanced (cervix, uterine)

Protein evidence

 Evidence at protein level

Protein expression

 Expression in connective tissue and extracellular matrix positivity in several different tissue types.

DATA RELIABILITY

Data reliability
description

 Secreted protein, tissue location of RNA and protein might differ and correlation is complex. Antibody staining in cells/structures not annotated, view images.

Reliability score

 Approved based on 1 antibody.
HPA030769
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cervix, uterine)

GENE INFORMATION

Gene name

 COL5A1

Synonyms

Description

 Collagen, type V, alpha 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Chromosome

 9

Cytoband

 q34.3

Chromosome location (bp)

 134641774 - 134844843

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130635 (version 83.38)

Entrez gene

 1289

UniProt

 P20908 (UniProt - Evidence at protein level)

neXtProt

 NX_P20908

Antibodypedia

 COL5A1 antibodies

PROTEIN BROWSER
COL5A1-001
COL5A1-003
COL5A1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
COL5A1-001
ENSP00000360882
ENST00000371817
P20908 [Direct mapping]
Collagen alpha-1(V) chain
A0A024R8E5 [Target identity:100%; Query identity:100%]
Collagen, type V, alpha 1, isoform CRA_a
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001568 [blood vessel development]
GO:0003007 [heart morphogenesis]
GO:0005178 [integrin binding]
GO:0005201 [extracellular matrix structural constituent]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005581 [collagen trimer]
GO:0005588 [collagen type V trimer]
GO:0005604 [basement membrane]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007155 [cell adhesion]
GO:0007411 [axon guidance]
GO:0008201 [heparin binding]
GO:0016477 [cell migration]
GO:0022617 [extracellular matrix disassembly]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030574 [collagen catabolic process]
GO:0031012 [extracellular matrix]
GO:0032964 [collagen biosynthetic process]
GO:0035313 [wound healing, spreading of epidermal cells]
GO:0035989 [tendon development]
GO:0043206 [extracellular fibril organization]
GO:0043394 [proteoglycan binding]
GO:0043588 [skin development]
GO:0045112 [integrin biosynthetic process]
GO:0046872 [metal ion binding]
GO:0048407 [platelet-derived growth factor binding]
GO:0048592 [eye morphogenesis]
GO:0051128 [regulation of cellular component organization]
GO:0070062 [extracellular exosome]
GO:1903225 [negative regulation of endodermal cell differentiation]
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 1838 aa
183.6 kDa 		Yes 0
COL5A1-003
ENSP00000360885
ENST00000371820
H7BY82 [Direct mapping]
Collagen alpha-1(V) chain
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Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005201 [extracellular matrix structural constituent]
GO:0005581 [collagen trimer]
Show all
 210 aa
23.5 kDa 		No 0
COL5A1-201
ENSP00000481360
ENST00000618395
A0A087WXW9 [Direct mapping]
Collagen alpha-1(V) chain
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005201 [extracellular matrix structural constituent]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005581 [collagen trimer]
Show all
 1838 aa
183.7 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.