• Gene id: 11172

Gene Summary

• Gene Symbol: INSL6   Gene   UCSC   Ensembl
• Aliases: RIF1
• Gene name: insulin like 6
• Alternate names: insulin-like peptide INSL6, insulin-like peptide 5, insulin-like peptide 6, relaxin/insulin-like factor 1,
• Gene location: 9p24.1 (5185706: 4992408)     Exons: 3     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to intersti
• OMIM: 606414

Protein Summary

• Protein general information: Q9Y581  
  • Name: Insulin like peptide INSL6 (Insulin like peptide 6) (Relaxin/insulin like factor 1) [Cleaved into: Insulin like peptide INSL6 B chain; Insulin like peptide INSL6 A chain]
  • Length: 213  
  • Mass: 24,860
• Sequence:

  MPRLLRLSLLWLGLLLVRFSRELSDISSARKLCGRYLVKEIEKLCGHANWSQFRFEEETPFSRLIAQASEKVEAY
  SPYQFESPQTASPARGRGTNPVSTSWEEAVNSWEMQSLPEYKDKKGYSPLGKTREFSSSHNINVYIHENAKFQKK
  RRNKIKTLSNLFWGHHPQRKRRGYSEKCCLTGCTKEELSIACLPYIDFKRLKEKRSSLVTKIY

• Structural information:
  • Interpro: IPR016179  IPR017100  IPR036438  IPR022353  
  • Prosite: PS00262
  • STRING: ENSP00000371054
• Other Databases: GeneCards:  INSL6  Malacards:  INSL6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005179	hormone activity	NAS	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0005179	hormone activity	IEA	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005179	hormone activity	NAS	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0005179	hormone activity	NAS	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Ulcerative colitis	GAD: 19915573
Sperm motility	MIK: 25877373
Spermatogenesis defects	MIK: 21616179
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Required for the progression of spermatogenesis	MIK: 19520787
Sperm immotility	MIK: 25877373
Spermatogenic failure	MIK: 21616179
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21616179	Spermatogenic failure	R171H		498 (249 patients, 249 healthy controls)	Male infertility
25877373	Sperm immotility	c.2540A > G, c.104G > C, c.3167A > T, c.828C > G, c.262_263delCC, c.3835-3delT, c.7895C > T and c.81 + 61A > G)			Male infertility	CCDC39  CCDC40  DNAH5  DNAI1  RSPH1  AKAP3 and AKAP4
19520787	Required for the progression of spermatogenesis				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray