Human Gene COL14A1 (uc010mde.1)
  Description: Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.
RefSeq Summary (NM_021110): This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Transcript (Including UTRs)
   Position: hg19 chr8:121,209,030-121,228,729 Size: 19,700 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr8:121,216,037-121,228,729 Size: 12,693 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:121,209,030-121,228,729)mRNA (may differ from genome)Protein (257 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkHGNC
LynxMalacardsMGIPubMedTreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: H0YBB2_HUMAN
DESCRIPTION: SubName: Full=Collagen alpha-1(XIV) chain; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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): COL14A1
CDC HuGE Published Literature: COL14A1
Positive Disease Associations: Coronary Artery Disease
Related Studies:
  1. Coronary Artery Disease
    , , . [PubMed 0]
  2. Coronary Artery Disease
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: COL14A1
Diseases sorted by gene-association score: keratoderma, palmoplantar, punctate type ia* (247), punctate palmoplantar keratoderma (18), collagenous colitis (11), peliosis hepatis (9), supraglottis cancer (6), odontogenic myxoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 138.05 RPKM in Artery - Aorta
Total median expression: 722.45 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 -64.50245-0.263 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
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR002035 - VWF_A

Pfam Domains:
PF00041 - Fibronectin type III domain

SCOP Domains:
49265 - Fibronectin type III

ModBase Predicted Comparative 3D Structure on H0YBB2
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC036192 - Homo sapiens collagen, type XIV, alpha 1, mRNA (cDNA clone IMAGE:4838609), complete cds.
AK293080 - Homo sapiens cDNA FLJ77224 partial cds, highly similar to Homo sapiens collagen, type XIV, alpha 1 (undulin) (COL14A1), mRNA.
AK311498 - Homo sapiens cDNA, FLJ18540.
AK307716 - Homo sapiens cDNA, FLJ97664.
BC140893 - Homo sapiens collagen, type XIV, alpha 1, mRNA (cDNA clone MGC:176570 IMAGE:9021761), complete cds.
M64108 - Human udulin 1 mRNA, 3' end.
Y11709 - H.sapiens mRNA for extracellular matrix protein collagen type XIV, N-terminus.
M64109 - Human udulin 2 mRNA, 3' end.
JD149141 - Sequence 130165 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: H0YBB2, H0YBB2_HUMAN, M64109
UCSC ID: uc010mde.1
RefSeq Accession: NM_021110
Protein: H0YBB2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: M64109.1
exon count: 7CDS single in 3' UTR: no RNA size: 1399
ORF size: 771CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1421.00frame shift in genome: no % Coverage: 71.91
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.