Cell atlas - COL4A6 - The Human Protein Atlas

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COL4A6

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Endoplasmic reticulum

Human cell
	Endoplasmic Reticulum

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GENERAL INFORMATION
Gene name	COL4A6
Gene description	Collagen, type IV, alpha 6
Protein class	Disease related genes Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the endoplasmic reticulum.
RNA cell category	Cell line enhanced (TIME, HUVEC TERT2, A549, HeLa)
Protein evidence	Evidence at protein level
Main location	Localized to the Endoplasmic reticulum (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA065393
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (TIME, HUVEC TERT2, A549, HeLa) 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

Localized to the endoplasmic reticulum.

Main location

Endoplasmic reticulum (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA065393	A549	Endoplasmic reticulum
	HPA065393	HeLa	Endoplasmic reticulum
	HPA065393	U-2 OS	Endoplasmic reticulum

GENE INFORMATION
Gene name	COL4A6
Synonyms
Description	Collagen, type IV, alpha 6 (HGNC Symbol)
Entrez gene summary	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Chromosome	X
Cytoband	q22.3
Chromosome location (bp)	108155607 - 108439497
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000197565 (version 83.38)
Entrez gene	1288
UniProt	Q14031 (UniProt - Evidence at protein level)
neXtProt	NX_Q14031
Antibodypedia	COL4A6 antibodies

PROTEIN BROWSER

COL4A6-001	COL4A6-002	COL4A6-201	COL4A6-202	COL4A6-203	COL4A6-204

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL4A6-001 ENSP00000361290 ENST00000372216	Q14031 [Direct mapping] Collagen alpha-6(IV) chain Show all	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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005576 [extracellular region] GO:0005581 [collagen trimer] GO:0005587 [collagen type IV trimer] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] Show all	1691 aa 163.8 kDa	Yes	0
COL4A6-002 ENSP00000334733 ENST00000334504	Q14031 [Direct mapping] Collagen alpha-6(IV) chain Show all	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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005576 [extracellular region] GO:0005581 [collagen trimer] GO:0005587 [collagen type IV trimer] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] Show all	1690 aa 163.6 kDa	Yes	0
COL4A6-201 ENSP00000378340 ENST00000394872	A8MXH5 [Direct mapping] Collagen alpha-6(IV) chain Show all	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	GO:0005198 [structural molecule activity] GO:0005201 [extracellular matrix structural constituent] GO:0005581 [collagen trimer] GO:0005587 [collagen type IV trimer] GO:0005604 [basement membrane] GO:0030198 [extracellular matrix organization] GO:0071230 [cellular response to amino acid stimulus] Show all	1707 aa 165.5 kDa	Yes	0
COL4A6-202 ENSP00000445236 ENST00000538570	F5H3Q5 [Direct mapping] Collagen alpha-6(IV) chain Show all	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	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] Show all	1633 aa 158.1 kDa	Yes	0
COL4A6-203 ENSP00000443707 ENST00000545689	F5H851 [Direct mapping] Collagen alpha-6(IV) chain Show all	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	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] Show all	1678 aa 162.5 kDa	Yes	0
COL4A6-204 ENSP00000482970 ENST00000621266	A0A087WZY5 [Direct mapping] Collagen alpha-6(IV) chain Show all	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	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] Show all	1666 aa 161.3 kDa	Yes	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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