COL4A1

GENERAL INFORMATION

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Gene name

COL4A1

Gene description

Collagen, type IV, alpha 1

Protein class

Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (placenta)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Distinct expression in basement membranes and stromal cells of placenta.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.

Data reliability

Uncertain based on 1 antibody.
CAB001695
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

COL4A1

Synonyms

Description

Collagen, type IV, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Chromosome

13

Cytoband

q34

Chromosome location (bp)

110148963 - 110307149

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187498 (version 78.38)

Entrez gene

1282

UniProt

P02462 (UniProt - Evidence at protein level)

neXtProt

NX_P02462

Antibodypedia

COL4A1 antibodies


PROTEIN BROWSER

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ENST00000375820
 
ENST00000543140
 
ENST00000615732
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL4A1-001 ENSP00000364979
ENST00000375820
P02462
Show all »
Show » Show » 1669 160.6 Yes 0
COL4A1-005 ENSP00000443348
ENST00000543140
F5H5K0
Show all »
Show » 519 50.2 Yes 0
COL4A1-006 ENSP00000478222
ENST00000615732
Show » 223 21.2 No 0