• Gene id: 121355

Gene Summary

• Gene Symbol: GTSF1   Gene   UCSC   Ensembl
• Aliases: FAM112B
• Gene name: gametocyte specific factor 1
• Alternate names: gametocyte-specific factor 1, family with sequence similarity 112, member B,
• Gene location: 12q13.13 (54473601: 54455951)     Exons: 11     NC_000012.12
• OMIM: 617484

Protein Summary

• Protein general information: Q8WW33  
  • Name: Gametocyte specific factor 1 (Protein FAM112B)
  • Length: 167  
  • Mass: 19,266
• Sequence:

  MEETYTDSLDPEKLLQCPYDKNHQIRACRFPYHLIKCRKNHPDVASKLATCPFNARHQVPRAEISHHISSCDDRS
  CIEQDVVNQTRSLRQETLAESTWQCPPCDEDWDKDLWEQTSTPFVWGTTHYSDNNSPASNIVTEHKNNLASGMRV
  PKSLPYVLPWKNNGNAQ

• Structural information:
  • Interpro: IPR007917  IPR022776  IPR036236  
  • Prosite: PS51800
  • STRING: ENSP00000304185
• Other Databases: GeneCards:  GTSF1  Malacards:  GTSF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function

Diseases

Associated diseases	References
Male factor infertility	MIK: 25791297
Cryptorchidism	MIK: 25791297
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism, Male infertility	MIK: 25791297
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 23869807
Sertoli cell only syndrome	MIK: 23869807
Required for spermatogenesis and involved in retrotransposon suppression in male germ cells	MIK: 19735653
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25791297	Cryptorchidism, Male infertility				Male infertility	GTSF1 L1 and PIWIL4
19735653	Required for spermatogenesis and involved in retrotransposon suppression in male germ cells				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R