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COL15A1 collagen type XV alpha 1 chain [ Homo sapiens (human) ]

Gene ID: 1306, updated on 3-Oct-2018

Summary

Official Symbol
COL15A1provided by HGNC
Official Full Name
collagen type XV alpha 1 chainprovided by HGNC
Primary source
HGNC:HGNC:2192
See related
Ensembl:ENSG00000204291 MIM:120325; Vega:OTTHUMG00000020351
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
Expression
Broad expression in placenta (RPKM 113.8), fat (RPKM 52.0) and 17 other tissues See more
Orthologs

Genomic context

See COL15A1 in Genome Data Viewer
Location:
9q22.33
Exon count:
43
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (98943392..99070792)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101705995..101833074)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724684 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 pseudogene Neighboring gene transforming growth factor beta receptor 1 Neighboring gene RNA, 5S ribosomal pseudogene 290 Neighboring gene uncharacterized LOC105376174

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
NHGRI GWA Catalog

Pathways from BioSystems

  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
    Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
  • Collagen degradation, organism-specific biosystem (from REACTOME)
    Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38566

Gene Ontology Provided by GOA

Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
collagen alpha-1(XV) chain
Names
collagen XV, alpha-1 polypeptide
collagen type XV proteoglycan
collagen, type XV, alpha 1
endostatin-XV
restin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001855.4NP_001846.3  collagen alpha-1(XV) chain precursor

    See identical proteins and their annotated locations for NP_001846.3

    Status: REVIEWED

    Source sequence(s)
    AK095885, AL354923, BX337171, HY016428, L25286
    Consensus CDS
    CCDS35081.1
    UniProtKB/Swiss-Prot
    P39059
    UniProtKB/TrEMBL
    B3KTP7
    Related
    ENSP00000364140.3, OTTHUMP00000021782, ENST00000375001.7, OTTHUMT00000053386
    Conserved Domains (3) summary
    pfam01391
    Location:670716
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:40228
    TSPN; Thrombospondin N-terminal -like domains
    cd00247
    Location:12151381
    Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    98943392..99070792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518214.2XP_011516516.1  collagen alpha-1(XV) chain isoform X1

    See identical proteins and their annotated locations for XP_011516516.1

    UniProtKB/Swiss-Prot
    P39059
    Conserved Domains (3) summary
    pfam01391
    Location:670716
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:40228
    TSPN; Thrombospondin N-terminal -like domains
    cd00247
    Location:12151381
    Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...
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