Cell atlas - COL4A1 - The Human Protein Atlas

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COL4A1

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nucleoplasm

Human cell
	Cytosol
	Nucleoplasm

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GENERAL INFORMATION
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
Summary	Mainly localized to the nucleoplasm. In addition localized to the cytosol.
RNA cell category	Cell line enhanced (EFO-21)
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (uncertain)
Additional location	In addition localized to the Cytosol (uncertain)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Uncertain based on 1 antibody. HPA054039
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (EFO-21) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleoplasm. In addition localized to the cytosol.

Main location

Nucleoplasm (uncertain)

Additional location

Cytosol (uncertain)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA054039	U-2 OS	Vesicles	Intensity
	HPA054039	U-251 MG	Nucleoplasm
			Vesicles
			Cytosol

GENE INFORMATION
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 83.38)
Entrez gene	1282
UniProt	P02462 (UniProt - Evidence at protein level)
neXtProt	NX_P02462
Antibodypedia	COL4A1 antibodies

PROTEIN BROWSER

COL4A1-001	COL4A1-005	COL4A1-006

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL4A1-001 ENSP00000364979 ENST00000375820	P02462 [Direct mapping] Collagen alpha-1(IV) chain Arresten Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001569 [patterning of blood vessels] GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005581 [collagen trimer] GO:0005587 [collagen type IV trimer] GO:0005604 [basement membrane] GO:0005788 [endoplasmic reticulum lumen] GO:0006898 [receptor-mediated endocytosis] GO:0007411 [axon guidance] GO:0007420 [brain development] GO:0007528 [neuromuscular junction development] GO:0022617 [extracellular matrix disassembly] GO:0030023 [extracellular matrix constituent conferring elasticity] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0030855 [epithelial cell differentiation] GO:0031012 [extracellular matrix] GO:0048407 [platelet-derived growth factor binding] GO:0048514 [blood vessel morphogenesis] GO:0061304 [retinal blood vessel morphogenesis] GO:0061333 [renal tubule morphogenesis] GO:0071230 [cellular response to amino acid stimulus] GO:0071711 [basement membrane organization] Show all	1669 aa 160.6 kDa	Yes	0
COL4A1-005 ENSP00000443348 ENST00000543140	F5H5K0 [Direct mapping] Collagen alpha-1(IV) chain Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		519 aa 50.2 kDa	Yes	0
COL4A1-006 ENSP00000478222 ENST00000615732	A0A087WTY5 [Direct mapping] Collagen alpha-1(IV) chain Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		223 aa 21.2 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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