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Aliases for COL19A1 Gene

Aliases for COL19A1 Gene

  • Collagen, Type XIX, Alpha 1 2 3
  • Collagen Alpha-1(Y) Chain 3 4
  • COL9A1L 3 6
  • D6S228E 3 6
  • Collagen XIX, Alpha-1 Polypeptide 3
  • A1 Chain Of Type XIX Collagen 3
  • Collagen Alpha-1(XIX) Chain 3
  • Collagen Alpha 1 (Y) Chain 3

External Ids for COL19A1 Gene

Previous GeneCards Identifiers for COL19A1 Gene

  • GC06P070534
  • GC06P070572
  • GC06P070633
  • GC06P067767

Summaries for COL19A1 Gene

Entrez Gene Summary for COL19A1 Gene

  • 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]

GeneCards Summary for COL19A1 Gene

COL19A1 (Collagen, Type XIX, Alpha 1) is a Protein Coding gene. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is COL21A1.

UniProtKB/Swiss-Prot for COL19A1 Gene

  • May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle.

Gene Wiki entry for COL19A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL19A1 Gene

Genomics for COL19A1 Gene

Regulatory Elements for COL19A1 Gene

Genomic Location for COL19A1 Gene

Start:
69,866,556 bp from pter
End:
70,212,454 bp from pter
Size:
345,899 bases
Orientation:
Plus strand

Genomic View for COL19A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL19A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL19A1 Gene

Proteins for COL19A1 Gene

  • Protein details for COL19A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14993-COJA1_HUMAN
    Recommended name:
    Collagen alpha-1(XIX) chain
    Protein Accession:
    Q14993
    Secondary Accessions:
    • Q00559
    • Q05850
    • Q12885
    • Q13676
    • Q14DH1
    • Q5JUF0
    • Q5T424
    • Q9H572
    • Q9NPZ2
    • Q9NQP2

    Protein attributes for COL19A1 Gene

    Size:
    1142 amino acids
    Molecular mass:
    115221 Da
    Quaternary structure:
    • Oligomer; disulfide-linked.
    SequenceCaution:
    • Sequence=CAC12699.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42319.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42496.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for COL19A1 Gene

Proteomics data for COL19A1 Gene at MOPED

Post-translational modifications for COL19A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
  • Glycosylation at Ser272 and Ser273
  • Modification sites at PhosphoSitePlus

Other Protein References for COL19A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL19A1 Gene

Domains for COL19A1 Gene

Gene Families for COL19A1 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL19A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14993

UniProtKB/Swiss-Prot:

COJA1_HUMAN :
  • Q14993
Domain:
  • The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
  • Contains 11 collagen-like domains.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
genes like me logo Genes that share domains with COL19A1: view

Function for COL19A1 Gene

Molecular function for COL19A1 Gene

GENATLAS Biochemistry: collagen,type XIX,alpha 1,fibril associated collagen with interrupted triple helices (FACIT),expressed in cartilage
UniProtKB/Swiss-Prot Function: May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle.

Gene Ontology (GO) - Molecular Function for COL19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 1639419
GO:0030674 protein binding, bridging NAS 1639419
genes like me logo Genes that share ontologies with COL19A1: view
genes like me logo Genes that share phenotypes with COL19A1: view

Animal Models for COL19A1 Gene

MGI Knock Outs for COL19A1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for COL19A1 Gene

Localization for COL19A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL19A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL19A1 Gene COMPARTMENTS Subcellular localization image for COL19A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
mitochondrion 3
cytosol 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix NAS 1639419
GO:0005581 collagen trimer NAS 7775380
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL19A1: view

Pathways for COL19A1 Gene

genes like me logo Genes that share pathways with COL19A1: view

Interacting Proteins for COL19A1 Gene

Gene Ontology (GO) - Biological Process for COL19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9143499
GO:0007155 cell adhesion NAS 7775380
GO:0007519 skeletal muscle tissue development IEA --
GO:0016337 single organismal cell-cell adhesion NAS 1639419
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with COL19A1: view

Transcripts for COL19A1 Gene

mRNA/cDNA for COL19A1 Gene

(16) Selected AceView cDNA sequences:
(8) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL19A1 Gene

Collagen, type XIX, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL19A1 Gene

No ASD Table

Relevant External Links for COL19A1 Gene

GeneLoc Exon Structure for
COL19A1
ECgene alternative splicing isoforms for
COL19A1

Expression for COL19A1 Gene

mRNA expression in normal human tissues for COL19A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL19A1 Gene

This gene is overexpressed in Bladder (5.2) and Brain - Cerebellum (4.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for COL19A1 Gene

SOURCE GeneReport for Unigene cluster for COL19A1 Gene Hs.444842

mRNA Expression by UniProt/SwissProt for COL19A1 Gene

Q14993-COJA1_HUMAN
Tissue specificity: Localized to vascular, neuronal, mesenchymal, and some epithelial basement membrane zones in umbilical cord.
genes like me logo Genes that share expressions with COL19A1: view

Orthologs for COL19A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL19A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL19A1 35
  • 99.62 (n)
  • 99.39 (a)
COL19A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL19A1 35
  • 87.05 (n)
  • 85.34 (a)
COL19A1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL19A1 35
  • 90.23 (n)
  • 88.94 (a)
COL19A1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col19a1 35
  • 85.89 (n)
  • 83.54 (a)
Col19a1 16
Col19a1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL19A1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL19A1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col19a1 35
  • 84.37 (n)
  • 82.83 (a)
chicken
(Gallus gallus)
Aves COL19A1 35
  • 71.99 (n)
  • 68.22 (a)
COL19A1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL19A1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col19a1 35
  • 63.82 (n)
  • 60.73 (a)
zebrafish
(Danio rerio)
Actinopterygii col19a1 36
  • 38 (a)
OneToMany
col19a1 36
  • 57 (a)
OneToMany
COL19A1 (3 of 3) 36
  • 40 (a)
OneToMany
Species with no ortholog for COL19A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL19A1 Gene

ENSEMBL:
Gene Tree for COL19A1 (if available)
TreeFam:
Gene Tree for COL19A1 (if available)

Paralogs for COL19A1 Gene

genes like me logo Genes that share paralogs with COL19A1: view

Variants for COL19A1 Gene

Sequence variations from dbSNP and Humsavar for COL19A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1736 -- 70,207,294(+) GACTT(A/G)GTTCC utr-variant-3-prime
rs181873 -- 69,925,231(-) aagac(C/T)taaac intron-variant
rs513631 -- 70,196,698(-) ATCTG(C/T)CAAGG intron-variant
rs514586 -- 70,191,380(-) tggaa(C/T)aagat intron-variant
rs515597 -- 70,191,226(-) aaact(C/T)gtaat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL19A1 Gene

Variant ID Type Subtype PubMed ID
nsv886140 CNV Gain 21882294
nsv830682 CNV Loss 17160897
nsv886141 CNV Loss 21882294
esv2658033 CNV Deletion 23128226
nsv463151 CNV Loss 19166990
nsv470832 CNV Loss 18288195
nsv511895 CNV Loss 21212237
esv2732254 CNV Deletion 23290073
esv2663730 CNV Deletion 23128226
nsv525985 CNV Loss 19592680
nsv886142 CNV Gain 21882294
nsv830683 CNV Gain 17160897
nsv819361 CNV Loss 19587683
nsv507337 CNV Insertion 20534489
esv6420 CNV Gain 19470904

Relevant External Links for COL19A1 Gene

HapMap Linkage Disequilibrium report
COL19A1
Human Gene Mutation Database (HGMD)
COL19A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL19A1 Gene

Disorders for COL19A1 Gene

Relevant External Links for COL19A1

Genetic Association Database (GAD)
COL19A1
Human Genome Epidemiology (HuGE) Navigator
COL19A1
genes like me logo Genes that share disorders with COL19A1: view

No data available for UniProtKB/Swiss-Prot for COL19A1 Gene

Publications for COL19A1 Gene

  1. Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13. (PMID: 9143499) Gerecke D.R. … Burgeson R.E. (Genomics 1997) 2 3 23
  2. Structure of the human type XIX collagen (COL19A1) gene, which suggests it has arisen from an ancestor gene of the FACIT family. (PMID: 9344653) Khaleduzzaman M. … Yoshioka H. (Genomics 1997) 3 4 23
  3. Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain. (PMID: 7916703) Myers J.C. … Dion A.S. (Gene 1993) 2 3 4
  4. The triple-helical region of human type XIX collagen consists of multiple collagenous subdomains and exhibits limited sequence homology to alpha 1(XVI). (PMID: 8034603) Myers J.C. … Dion A.S. (J. Biol. Chem. 1994) 3 4
  5. Synteny between the loci for a novel FACIT-like collagen locus (D6S228E) and alpha 1 (IX) collagen (COL9A1) on 6q12-q14 in humans. (PMID: 1639419) Yoshioka H. … Gordon M.K. (Genomics 1992) 3 4

Products for COL19A1 Gene

Sources for COL19A1 Gene

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