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Gene: COL5A1 (collagen type V alpha 1 chain) Homo sapiens
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Symbol: COL5A1
Name: collagen type V alpha 1 chain
Description: Exhibits heparin binding activity; platelet-derived growth factor binding activity; and proteoglycan binding activity. Involved in several processes, including collagen biosynthetic process; collagen fibril organization; and wound healing, spreading of epidermal cells. Localizes to the collagen type V trimer. Implicated in Ehlers-Danlos syndrome and type I Ehlers-Danlos syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha 1 type V collagen; collagen alpha-1(V) chain; collagen type V alpha 1; collagen, type V, alpha 1; EDSC; EDSCL1
Orthologs:
Mus musculus (house mouse) : Col5a1 (collagen, type V, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col5a1 (collagen type V alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col5a1 (collagen type V alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL5A1 (collagen type V alpha 1 chain)
Canis lupus familiaris (dog) : COL5A1 (collagen type V alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col5a1 (collagen type V alpha 1 chain)
Sus scrofa (pig) : COL5A1 (collagen type V alpha 1 chain)
Chlorocebus sabaeus (green monkey) : COL5A1 (collagen type V alpha 1 chain)
Heterocephalus glaber (naked mole-rat) : Col5a1 (collagen type V alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl9134,641,803 - 134,844,843 (+)Ensembl
GRCh38 Ensembl9134,641,774 - 134,844,843 (+)Ensembl
GRCh389134,641,789 - 134,844,843 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379137,533,651 - 137,736,689 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369136,673,473 - 136,876,510 (+)NCBINCBI36hg18NCBI36
Build 349134,759,596 - 134,960,684NCBI
Celera9108,048,806 - 108,251,522 (+)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9106,996,262 - 107,200,594 (+)NCBIHuRef
CHM1_19137,682,127 - 137,886,117 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences