Human Gene COL19A1 (uc003pfc.1)
  Description: Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.
RefSeq Summary (NM_001858): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr6:70,576,448-70,922,157 Size: 345,710 Total Exon Count: 51 Strand: +
Coding Region
   Position: hg19 chr6:70,589,460-70,916,978 Size: 327,519 Coding Exon Count: 50 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:70,576,448-70,922,157)mRNA (may differ from genome)Protein (1142 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COJA1_HUMAN
DESCRIPTION: RecName: Full=Collagen alpha-1(XIX) chain; AltName: Full=Collagen alpha-1(Y) chain; Flags: Precursor;
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.
SUBUNIT: Oligomer; disulfide-linked.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
TISSUE SPECIFICITY: Localized to vascular, neuronal, mesenchymal, and some epithelial basement membrane zones in umbilical cord.
DOMAIN: The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
SIMILARITY: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
SIMILARITY: Contains 11 collagen-like domains.
SIMILARITY: Contains 1 laminin G-like domain.
SEQUENCE CAUTION: Sequence=CAC12699.3; Type=Erroneous gene model prediction; Sequence=CAI42319.2; Type=Erroneous gene model prediction; Sequence=CAI42496.2; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COL19A1
CDC HuGE Published Literature: COL19A1
Positive Disease Associations: Glucose , monocyte chemoattractant protein 1 (66-77)
Related Studies:
  1. Glucose
    , , . [PubMed 0]
  2. monocyte chemoattractant protein 1 (66-77)
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.67 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 10.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.80117-0.323 Picture PostScript Text
3' UTR -1249.725179-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008160 - Collagen
IPR008985 - ConA-like_lec_gl_sf
IPR001791 - Laminin_G

Pfam Domains:
PF01391 - Collagen triple helix repeat (20 copies)

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases

ModBase Predicted Comparative 3D Structure on Q14993
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0030674 protein binding, bridging

Biological Process:
GO:0001501 skeletal system development
GO:0007155 cell adhesion
GO:0007275 multicellular organism development
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0030154 cell differentiation
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  D38163 - Homo sapiens mRNA for a1(XIX) collagen chain, complete cds.
AK310621 - Homo sapiens cDNA, FLJ17663.
BC113362 - Homo sapiens collagen, type XIX, alpha 1, mRNA (cDNA clone MGC:141922 IMAGE:8322414), complete cds.
BC113364 - Homo sapiens collagen, type XIX, alpha 1, mRNA (cDNA clone MGC:141924 IMAGE:8322416), complete cds.
M63597 - Human fibril-associated collagen (HY-67) mRNA, partial cds.
L12347 - Homo sapiens collagen chain mRNA, 3' end.
U09279 - Human type XIX collagen (COL19A1) mRNA, partial cds.
BC070177 - Homo sapiens cDNA clone IMAGE:4557931, partial cds.
AK309023 - Homo sapiens cDNA, FLJ99064.
JD052448 - Sequence 33472 from Patent EP1572962.
JD108433 - Sequence 89457 from Patent EP1572962.
JD379277 - Sequence 360301 from Patent EP1572962.
JD283221 - Sequence 264245 from Patent EP1572962.
JD201850 - Sequence 182874 from Patent EP1572962.
JD565817 - Sequence 546841 from Patent EP1572962.
JD436796 - Sequence 417820 from Patent EP1572962.
JD359961 - Sequence 340985 from Patent EP1572962.
JD042770 - Sequence 23794 from Patent EP1572962.
JD307808 - Sequence 288832 from Patent EP1572962.
JD065114 - Sequence 46138 from Patent EP1572962.
JD098162 - Sequence 79186 from Patent EP1572962.
JD197256 - Sequence 178280 from Patent EP1572962.
JD381276 - Sequence 362300 from Patent EP1572962.
JD488987 - Sequence 470011 from Patent EP1572962.
JD303313 - Sequence 284337 from Patent EP1572962.
JD289857 - Sequence 270881 from Patent EP1572962.
JD327898 - Sequence 308922 from Patent EP1572962.
JD131768 - Sequence 112792 from Patent EP1572962.
JD198273 - Sequence 179297 from Patent EP1572962.
JD303675 - Sequence 284699 from Patent EP1572962.
JD171220 - Sequence 152244 from Patent EP1572962.
JD292523 - Sequence 273547 from Patent EP1572962.
JD551048 - Sequence 532072 from Patent EP1572962.
JD053721 - Sequence 34745 from Patent EP1572962.
JD369306 - Sequence 350330 from Patent EP1572962.
JD258042 - Sequence 239066 from Patent EP1572962.
JD049579 - Sequence 30603 from Patent EP1572962.
JD039505 - Sequence 20529 from Patent EP1572962.
JD081711 - Sequence 62735 from Patent EP1572962.
JD284661 - Sequence 265685 from Patent EP1572962.
JD473518 - Sequence 454542 from Patent EP1572962.
JD323888 - Sequence 304912 from Patent EP1572962.
JD245409 - Sequence 226433 from Patent EP1572962.
JD342683 - Sequence 323707 from Patent EP1572962.
JD510705 - Sequence 491729 from Patent EP1572962.
JD410170 - Sequence 391194 from Patent EP1572962.
JD502904 - Sequence 483928 from Patent EP1572962.
JD093169 - Sequence 74193 from Patent EP1572962.
JD557762 - Sequence 538786 from Patent EP1572962.
JD171352 - Sequence 152376 from Patent EP1572962.
JD454362 - Sequence 435386 from Patent EP1572962.
JD492167 - Sequence 473191 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14993 (Reactome details) participates in the following event(s):

R-HSA-8944233 Association of procollagen type XIX
R-HSA-2002460 P4HB binds Collagen chains
R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides
R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen
R-HSA-8948219 PLOD3 binds Lysyl hydroxylated collagen propeptides
R-HSA-8948228 COLGALT1,COLGALT2 bind Lysyl hydroxylated collagen propeptides
R-HSA-2022073 Procollagen triple helix formation
R-HSA-1981104 Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines
R-HSA-1981120 Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2.
R-HSA-1981128 Galactosylation of collagen propeptide hydroxylysines by PLOD3
R-HSA-1981157 Glucosylation of collagen propeptide hydroxylysines
R-HSA-8948216 Collagen chain trimerization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-1442490 Collagen degradation
R-HSA-1474290 Collagen formation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: COJA1_HUMAN, NM_001858, NP_001849, Q00559, Q05850, Q12885, Q13676, Q14993, Q14DH1, Q5JUF0, Q5T424, Q9H572, Q9NPZ2, Q9NQP2
UCSC ID: uc003pfc.1
RefSeq Accession: NM_001858
Protein: Q14993 (aka COJA1_HUMAN or CA1I_HUMAN)
CCDS: CCDS4970.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001858.4
exon count: 51CDS single in 3' UTR: no RNA size: 8725
ORF size: 3429CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 6727.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.