Human Gene COL13A1 (uc010qjf.2)
  Description: Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 21, mRNA.
RefSeq Summary (NM_080798): This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr10:71,561,644-71,718,904 Size: 157,261 Total Exon Count: 35 Strand: +
Coding Region
   Position: hg19 chr10:71,562,180-71,718,457 Size: 156,278 Coding Exon Count: 35 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:71,561,644-71,718,904)mRNA (may differ from genome)Protein (645 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  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): COL13A1
CDC HuGE Published Literature: COL13A1
Positive Disease Associations: Cholesterol, LDL , Hip , Nonalcoholic Fatty Liver Disease
Related Studies:
  1. Cholesterol, LDL
    , , . [PubMed 0]
  2. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  3. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: COL13A1
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 19* (919), col13a1-related congenital myasthenic syndrome* (500), postsynaptic congenital myasthenic syndromes* (143), presynaptic congenital myasthenic syndromes* (124), congenital myasthenic syndrome (8), brittle cornea syndrome 2 (7)
* = 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: 34.24 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 136.39 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 -190.70536-0.356 Picture PostScript Text
3' UTR -104.74447-0.234 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
  Pfam Domains:
PF01391 - Collagen triple helix repeat (20 copies)

ModBase Predicted Comparative 3D Structure on Q5TAT6-10
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  BC139913 - Homo sapiens cDNA clone IMAGE:40147712.
AJ293624 - Homo sapiens mRNA for type XIII collagen (COLXIIIA1 gene).
BC136385 - Homo sapiens collagen, type XIII, alpha 1, mRNA (cDNA clone MGC:167995 IMAGE:9020372), complete cds.
M59217 - Human collagen type XIII alpha-1 mRNA, complete cds.
M33653 - Human (clones HT-[125,133]) alpha-2 type IV collagen (COL4A2) mRNA, complete cds.
M15524 - Human collagen type IV mRNA.
JD210503 - Sequence 191527 from Patent EP1572962.
JD430631 - Sequence 411655 from Patent EP1572962.
JD425776 - Sequence 406800 from Patent EP1572962.
JD555613 - Sequence 536637 from Patent EP1572962.
AK124476 - Homo sapiens cDNA FLJ42485 fis, clone BRACE2032329.
JD434631 - Sequence 415655 from Patent EP1572962.
JD059424 - Sequence 40448 from Patent EP1572962.

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

Protein Q5TAT6 (Reactome details) participates in the following event(s):

R-HSA-8944261 Association of procollagen type XIII
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-2484965 Collagen type XIII binds Integrin alpha1beta1
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-216083 Integrin cell surface interactions
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: NM_080798, NP_542988, Q5TAT6-10
UCSC ID: uc010qjf.2
RefSeq Accession: NM_080798
Protein: Q5TAT6-10, splice isoform of Q5TAT6 CCDS: CCDS44427.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COL13A1:
cms (Congenital Myasthenic Syndromes Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_080798.3
exon count: 35CDS single in 3' UTR: no RNA size: 2921
ORF size: 1938CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3578.00frame shift in genome: no % Coverage: 99.97
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: 1
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.