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Gene : COL27A1 Homo sapiens
Name  ? collagen type XXVII alpha 1 chain Cytological Location  9q32
Brief Description  collagen type XXVII alpha 1 chain
Description  This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
  • synonyms:
  • OTTHUMG00000020537,
  • MGC11337,
  • AB058773,
  • COL27A1,
  • KIAA1870,
  • uc011lxl.3,
  • HGNC:22986,
  • collagen type XXVII alpha 1,
  • collagen, type XXVII, alpha 1,
  • STLS,
  • NM_032888,
  • FLJ11895
  • identifiers:
  • 85301,
  • ENSG00000196739,
  • COL27A1

Genome feature

Region: gene ? Length: 158241  
Location: 9:114154271-114312511 Cyto location: 9q32


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Lists
This Gene is in one list:
PL_BHF_UCL_cardiovascGenes (4103)

Uni Prot Comments Displayer

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Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

10 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

10 Pathways

500 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results





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