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COL19A1 collagen type XIX alpha 1 chain [ Homo sapiens (human) ]

Gene ID: 1310, updated on 21-Dec-2019

Summary

Official Symbol
COL19A1provided by HGNC
Official Full Name
collagen type XIX alpha 1 chainprovided by HGNC
Primary source
HGNC:HGNC:2196
See related
Ensembl:ENSG00000082293 MIM:120165
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
Also known as
COL9A1L; D6S228E
Summary
This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.8) and 14 other tissues See more
Orthologs

Genomic context

See COL19A1 in Genome Data Viewer
Location:
6q13
Exon count:
55
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (69866556..70215063)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (70576448..70922157)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LMBR1 domain containing 1 Neighboring gene nucleophosmin 1 pseudogene 37 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 Neighboring gene ribosomal protein L37 pseudogene 15 Neighboring gene collagen type IX alpha 1 chain Neighboring gene uncharacterized LOC105377848 Neighboring gene uncharacterized LOC105377847 Neighboring gene uncharacterized LOC101928353

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding, bridging NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen catabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization NAS
Non-traceable Author Statement
more info
PubMed 
morphogenesis of a branching structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen trimer NAS
Non-traceable Author Statement
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
collagen alpha-1(XIX) chain
Names
a1 chain of type XIX collagen
collagen XIX, alpha-1 polypeptide
collagen alpha 1 (Y) chain
collagen, type XIX, alpha 1

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_001858.6NP_001849.2  collagen alpha-1(XIX) chain precursor

    See identical proteins and their annotated locations for NP_001849.2

    Status: REVIEWED

    Source sequence(s)
    AL160262, BC113364, D38163, KF510956
    Consensus CDS
    CCDS4970.1
    UniProtKB/Swiss-Prot
    Q14993
    Related
    ENSP00000480474.1, ENST00000620364.5
    Conserved Domains (2) summary
    pfam01391
    Location:597659
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:50233
    TSPN; Thrombospondin N-terminal -like domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    69866556..70215063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010256.1XP_016865745.1  collagen alpha-1(XIX) chain isoform X5

  2. XM_017010258.1XP_016865747.1  collagen alpha-1(XIX) chain isoform X7

  3. XM_011535437.2XP_011533739.1  collagen alpha-1(XIX) chain isoform X1

    Conserved Domains (3) summary
    pfam01391
    Location:622684
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:75258
    TSPN; Thrombospondin N-terminal -like domains
    pfam03157
    Location:299691
    Glutenin_hmw; High molecular weight glutenin subunit
  4. XM_017010253.1XP_016865742.1  collagen alpha-1(XIX) chain isoform X2

  5. XM_017010254.1XP_016865743.1  collagen alpha-1(XIX) chain isoform X3

  6. XM_017010257.1XP_016865746.1  collagen alpha-1(XIX) chain isoform X6

  7. XM_017010259.1XP_016865748.1  collagen alpha-1(XIX) chain isoform X8

  8. XM_017010255.1XP_016865744.1  collagen alpha-1(XIX) chain isoform X4

    UniProtKB/Swiss-Prot
    Q14993
    Conserved Domains (2) summary
    pfam01391
    Location:597659
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:50233
    TSPN; Thrombospondin N-terminal -like domains
  9. XM_011535438.2XP_011533740.1  collagen alpha-1(XIX) chain isoform X4

    See identical proteins and their annotated locations for XP_011533740.1

    UniProtKB/Swiss-Prot
    Q14993
    Conserved Domains (2) summary
    pfam01391
    Location:597659
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:50233
    TSPN; Thrombospondin N-terminal -like domains
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