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COL6A5 - collagen type VI alpha 5 chain Gene

Also Known as VWA4; COL29A1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 256076

About COL6A5

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,345,672-130,484,846 (from NCBI)

This gene has 4 transcripts (splice variants), 149 orthologues and 12 paralogues. Biased expression in skin (RPKM 1.9), lung (RPKM 1.6) and 8 other tissues.

Summary

This gene encodes a member of the Collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of Collagen VI to form the complete Collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

COL6A5 Products (3)

mRNA	Protein	Name
NM_001278298.2	NP_001265227.1	collagen alpha-5(VI) chain isoform 1 precursor
NM_001412157.1	NP_001399086.1	collagen alpha-5(VI) chain isoform 3 precursor
NM_153264.7	NP_694996.5	collagen alpha-5(VI) chain isoform 2 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19478074	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular region	IDA IDA: Inferred from direct assay	18400749	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL6A5 Protein Structure

VWA

Collagen

VWA

0
500
1000
1500
2000
2500
2615 a.a.

Protein Preferred Names	Protein Names
collagen alpha-5(VI) chain	collagen, type VI, alpha 5

Related Diseases

Diseases	Alias
Dermatitis	Eczema Skin Inflammation Inflammatory Dermatosis
Chiari Malformation
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	HSAN1C Hsan Ic Hsn1c Hsn Ic Hereditary Sensory And Autonomic Neuropathy Type 1c Neuropathy, Hereditary Sensory And Autonomic, Type 1c Neuropathy, Hereditary Sensory, Type Ic Hereditary Sensory And Autonomic Neuropathy Type Ic Neuropathy, Hereditary Sensory And Autonomic, 1c Hereditary Sensory Neuropathy Type Ic Neuropathy, Hereditary Sensory/Autonomic, Type Ic Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Chronic Dacryoadenitis
Epulis	Epulides Gingival Polyp Polyp Of Gum
Ehlers-Danlos Syndrome, Hypermobility Type	Ehlers-Danlos Syndrome, Type 3 Ehlers-Danlos Syndrome, Type Iii EDSHMB Eds Iii Benign Hypermobility Syndrome Ehlers-Danlos Syndrome Hypermobility Type Eds3 Type Iii Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 3 Es-D3
Corneal Dystrophy
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS02995	COL6A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COL6A5	MGD	MGI:3648134
Bos taurus	COL6A5	VGNC	VGNC:109405
Canis familiaris	COL6A5	VGNC	VGNC:39482
Rattus norvegicus	COL6A5	RGD	RGD:1565804
Others	COL6A5	NCBI