• Gene id: 114902

Gene Summary

• Gene Symbol: C1QTNF5   Gene   UCSC   Ensembl
• Aliases: CTRP5, MFRP
• Gene name: C1q and TNF related 5
• Alternate names: complement C1q tumor necrosis factor-related protein 5, C1q TNF-alpha-related protein 5, C1q and tumor necrosis factor related protein 5, Membrane frizzled-related protein, myonectin,
• Gene location: 11q23.3 (119346704: 119338941)     Exons: 15     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by eith
• OMIM: 610123

Protein Summary

• Protein general information: Q9BXJ0  
  • Name: Complement C1q tumor necrosis factor related protein 5
  • Length: 243  
  • Mass: 25298
• Sequence:

  MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGRPGLPG
  PRGDPGPRGEAGPAGPTGPAGECSVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVTGKFTCQVPGV
  YYFAVHATVYRASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDS
  TFSGFLVYSDWHSSPVFA

• Structural information:
  • Protein Domains: (30..9-)
    (/note="Collagen-like-)
    (99..23-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR008983  
  • Prosite: PS50871
  • PDB: 4F3J 4NN0
  • PDBsum: 4F3J 4NN0
  • STRING: ENSP00000431140
• Other Databases: GeneCards:  C1QTNF5  Malacards:  C1QTNF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0042995	cell projection	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0048839	inner ear development	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030133	transport vesicle	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0009306	protein secretion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Late-onset retinal degeneration	KEGG:H01130
Late-onset retinal degeneration	KEGG:H01130
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq