Description: Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. RefSeq Summary (NM_001855): This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]. 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 chr9:101,705,995-101,833,074 Size: 127,080 Total Exon Count: 42 Strand: + Coding Region Position: hg19 chr9:101,706,344-101,832,168 Size: 125,825 Coding Exon Count: 42
ID:COFA1_HUMAN DESCRIPTION: RecName: Full=Collagen alpha-1(XV) chain; Contains: RecName: Full=Endostatin; AltName: Full=Endostatin-XV; AltName: Full=Related to endostatin; AltName: Full=Restin; Flags: Precursor; FUNCTION: Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle. FUNCTION: Endostatin potently inhibits angiogenesis (By similarity). SUBUNIT: Trimer; disulfide-linked. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity). TISSUE SPECIFICITY: Expressed predominantly in internal organs such as adrenal gland, pancreas and kidney. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. PTM: O-glycosylated; with core 1 or possibly core 8 glycans. An N- terminal peptide contains chondroitin sulfate. SIMILARITY: Belongs to the multiplexin collagen family. SIMILARITY: Contains 4 collagen-like domains. SIMILARITY: Contains 1 laminin G-like domain.
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): COL15A1 CDC HuGE Published Literature: COL15A1 Positive Disease Associations: Thyrotropin Related Studies:
Thyrotropin Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
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.
ModBase Predicted Comparative 3D Structure on P39059
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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.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
