GTSF1 (gametocyte specific factor 1)

Gene

• Entrez ID: 121355
• Gene name: Gametocyte specific factor 1
• Gene symbol: GTSF1
• Synonyms (NCBI Gene): Cue110, FAM112B
• Chromosome: 12
• Chromosome location: 12q13.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1038323	hsa-miR-1182	CLIP-seq
MIRT1038324	hsa-miR-1256	CLIP-seq
MIRT1038325	hsa-miR-3128	CLIP-seq
MIRT1038326	hsa-miR-4720-5p	CLIP-seq
MIRT1038327	hsa-miR-4799-3p	CLIP-seq
MIRT2442245	hsa-miR-132	CLIP-seq
MIRT2442246	hsa-miR-212	CLIP-seq
MIRT2442247	hsa-miR-3185	CLIP-seq
MIRT2442248	hsa-miR-4650-3p	CLIP-seq
MIRT2442249	hsa-miR-4709-5p	CLIP-seq
MIRT2543989	hsa-miR-218	CLIP-seq
MIRT2543990	hsa-miR-223	CLIP-seq
MIRT2543991	hsa-miR-3978	CLIP-seq
MIRT2543992	hsa-miR-4328	CLIP-seq
MIRT2543993	hsa-miR-4697-3p	CLIP-seq
MIRT2543994	hsa-miR-548t	CLIP-seq
MIRT2543995	hsa-miR-595	CLIP-seq
MIRT2543996	hsa-miR-636	CLIP-seq
MIRT2543997	hsa-miR-648	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	33789107
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071547	Component	PiP-body	IEA
GO:0140965	Process	Secondary piRNA processing	IEA
GO:0140991	Process	PiRNA-mediated gene silencing by mRNA destabilization	IEA

Other IDs

• MIM: 617484
• HGNC: 26565
• e!Ensembl: ENSG00000170627

Protein

• UniProt ID: Q8WW33
• Protein name: Gametocyte-specific factor 1 (Protein FAM112B)
• Protein function: Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05253	zf-U11-48K	14 → 38	U11-48K-like CHHC zinc finger	Domain
  PF05253	zf-U11-48K	48 → 72	U11-48K-like CHHC zinc finger	Domain

• Sequence:

  MEETYTDSLDPEKLLQCPYDKNHQIRACRFPYHLIKCRKNHPDVASKLATCPFNARHQVP
  RAEISHHISSCDDRSCIEQDVVNQTRSLRQETLAESTWQCPPCDEDWDKDLWEQTSTPFV
  WGTTHYSDNNSPASNIVTEHKNNLASGMRVPKSLPYVLPWKNNGNAQ

• Sequence length: 167

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Male infertility	Likely pathogenic; Pathogenic	rs761767389, rs2498504999	RCV004573412 RCV004573413	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cryptorchidism	Cryptorchidism	BEFREE	25791297		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	25791297	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	25791297	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28965123	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29435047		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	24850846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29435047		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	25779945	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29435047		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	25779945	Associate	★☆☆☆☆ Found in Text Mining only