Homo sapiens Gene: C1QTNF5
Summary
InnateDB Gene IDBG-307775.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C1QTNF5
Gene Name C1q and tumor necrosis factor related protein 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000223953
Encoded Proteins
C1q and tumor necrosis factor related protein 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the a member of the C1q/tumor necrosis factor superfamily. The encoded protein may be a component of basement membranes and may play a role in cell adhesion. This gene is contained entirely within the 3' UTR of the membrane frizzled-related protein gene on chromosome 11q23 and both genes are expressed from a bicistronic transcript. Mutations in this gene have been associated with late-onset retinal degeneration.[provided by RefSeq, May 2010] This gene encodes a member of the frizzled-related proteins. The encoded protein may play a role in eye development, as mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic mRNA, which also encodes C1q and tumor necrosis factor related protein 5.[provided by RefSeq, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:119338942-119340883
Strand Reverse strand
Band q23.3
Transcripts
ENST00000525657
ENST00000528368 ENSP00000431140
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005581 collagen trimer
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9BXJ0
TrEMBL A0A024R3F8
UniProt Splice Variant
Entrez Gene 114902
UniGene Hs.632102
RefSeq NM_001278431 NM_015645
HUGO HGNC:14344
OMIM 608752
CCDS CCDS8420
HPRD 10575
IMGT
EMBL AF329841 AJ862823 AL110261 AY358383 BC029485 CH471065 EF444994
GenPept AAH29485 AAK17965 AAQ88749 ACA06014 CAB53702 CAH93522 EAW67481 EAW67482
RNA Seq Atlas 114902