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Aliases for COL19A1 Gene

Aliases for COL19A1 Gene

  • Collagen Type XIX Alpha 1 2 3
  • Collagen, Type XIX, Alpha 1 2 3 5
  • Collagen Alpha-1(Y) Chain 3 4
  • Collagen XIX, Alpha-1 Polypeptide 3
  • A1 Chain Of Type XIX Collagen 3
  • Collagen Alpha 1 (Y) Chain 3
  • COL9A1L 3
  • D6S228E 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 Phospholipase-C Pathway. 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

Enhancers for COL19A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COL19A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL19A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL19A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL19A1 Gene

Chromosome:
6
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

Genes around COL19A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL19A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Ser 272
  • Modification sites at PhosphoSitePlus

Other Protein References for COL19A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL19A1 Gene

Domains & Families for COL19A1 Gene

Gene Families for COL19A1 Gene

Suggested Antigen Peptide Sequences for COL19A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14993

UniProtKB/Swiss-Prot:

COJA1_HUMAN :
  • The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
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.
genes like me logo Genes that share phenotypes with COL19A1: view

Animal Models for COL19A1 Gene

MGI Knock Outs for COL19A1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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
endoplasmic reticulum 5
extracellular 5
mitochondrion 3
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for COL19A1 Gene

Pathways & Interactions 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:0016337 single organismal cell-cell adhesion NAS 1639419
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization IEA,NAS 1639419
genes like me logo Genes that share ontologies with COL19A1: view

No data available for SIGNOR curated interactions for COL19A1 Gene

Drugs & Compounds for COL19A1 Gene

No Compound Related Data Available

Transcripts for COL19A1 Gene

mRNA/cDNA for COL19A1 Gene

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 (x5.2) and Brain - Cerebellum (x4.5).

Protein differential expression in normal tissues from HIPED for COL19A1 Gene

This gene is overexpressed in Lung (57.5) and Heart (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COL19A1: view

Protein tissue co-expression partners for COL19A1 Gene

Primer Products

Orthologs for COL19A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL19A1 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia COL19A1 35
  • 99.62 (n)
  • 99.39 (a)
COL19A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col19a1 35
  • 84.37 (n)
  • 82.83 (a)
oppossum
(Monodelphis domestica)
Mammalia COL19A1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL19A1 36
  • 74 (a)
OneToOne
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
rs2273426 - 70,023,655(-) CCAGA(C/G)CTGGA reference, missense
VAR_035746 A breast cancer sample
VAR_035747 A breast cancer sample
rs13204209 -, - 70,141,897(+) GGGAG(A/G)ACCTG reference, missense
rs1016197 -- 69,960,084(-) TAACA(A/C/T)GTTAA 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

Variation tolerance for COL19A1 Gene

Residual Variation Intolerance Score: 94.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.69; 91.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL19A1 Gene

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL19A1

No disorders were found for COL19A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COL19A1 Gene

Publications for COL19A1 Gene

  1. 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 67
  2. 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
  3. 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 23
  4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3
  5. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3

Products for COL19A1 Gene

Sources for COL19A1 Gene

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