• Gene id: 114897

Gene Summary

• Gene Symbol: C1QTNF1   Gene   UCSC   Ensembl
• Aliases: CTRP1, GIP, ZSIG37
• Gene name: C1q and TNF related 1
• Alternate names: complement C1q tumor necrosis factor-related protein 1, C1q and tumor necrosis factor related protein 1, G protein coupled receptor interacting protein, g protein-coupled receptor-interacting protein,
• Gene location: 17q25.3 (79022933: 79049787)     Exons: 9     NC_000017.11
• OMIM: 616148

Protein Summary

• Protein general information: Q9BXJ1  
  • Name: Complement C1q tumor necrosis factor related protein 1 (G protein coupled receptor interacting protein) (GIP)
  • Length: 281  
  • Mass: 31743
• Sequence:

  MGSRGQGLLLAYCLLLAFASGLVLSRVPHVQGEQQEWEGTEELPSPPDHAERAEEQHEKYRPSQDQGLPASRCLR
  CCDPGTSMYPATAVPQINITILKGEKGDRGDRGLQGKYGKTGSAGARGHTGPKGQKGSMGAPGERCKSHYAAFSV
  GRKKPMHSNHYYQTVIFDTEFVNLYDHFNMFTGKFYCYVPGLYFFSLNVHTWNQKETYLHIMKNEEEVVILFAQV
  GDRSIMQSQSLMLELREQDQVWVRLYKGERENAIFSEELDTYITFSGYLVKHATEP

• Structural information:
  • Protein Domains: (99..14-)
    (/note="Collagen-like-)
    (141..28-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR008983  
  • Prosite: PS50871
  • STRING: ENSP00000340864
• Other Databases: GeneCards:  C1QTNF1  Malacards:  C1QTNF1

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005515	protein binding	IPI	molecular function
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:2000860	positive regulation of aldosterone secretion	IDA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0090331	negative regulation of platelet aggregation	IDA	biological process
GO:0010544	negative regulation of platelet activation	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005518	collagen binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq