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
Not yet available
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