COL3A1 (collagen type III alpha 1 chain)

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Gene: COL3A1 (collagen type III alpha 1 chain) Homo sapiens

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Symbol:

COL3A1

Name:

collagen type III alpha 1 chain

RGD ID:

737225

HGNC Page

HGNC

Description:

Exhibits several functions, including integrin binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including animal organ development; cell surface receptor signaling pathway; and collagen fibril organization. Localizes to collagen type III trimer and extracellular space. Implicated in Ehlers-Danlos syndrome; Ehlers-Danlos syndrome hypermobility type; end stage renal disease; and vascular type Ehlers-Danlos syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

alpha-1 type III collagen; alpha1 (III) collagen; collagen alpha-1(III) chain; collagen type III alpha 1; collagen, fetal; collagen, type III, alpha 1; EDS4A; EDSVASC; Ehlers-Danlos syndrome type IV, autosomal dominant; FLJ34534; PMGEDSV

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	2	188,974,373 - 189,012,746 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	2	188,974,320 - 189,012,746 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	2	188,974,373 - 189,012,746 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	2	189,839,099 - 189,877,472 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	189,547,344 - 189,585,717 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	2	189,664,604 - 189,702,978	NCBI
Celera	2	183,433,958 - 183,472,272 (+)	NCBI
Cytogenetic Map	2	q32.2	NCBI
HuRef	2	181,698,732 - 181,737,119 (+)	NCBI		HuRef
CHM1_1	2	189,845,032 - 189,883,377 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar