FATE1 (fetal and adult testis expressed 1)

Gene

• Entrez ID: 89885
• Gene name: Fetal and adult testis expressed 1
• Gene symbol: FATE1
• Synonyms (NCBI Gene): CT43, FATE
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2227289	hsa-miR-1910	CLIP-seq
MIRT2227290	hsa-miR-4691-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 22458338, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	12865919
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	26567849
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12865919, 26567849
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IBA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	12865919
GO:0051562	Process	Negative regulation of mitochondrial calcium ion concentration	IBA
GO:0051562	Process	Negative regulation of mitochondrial calcium ion concentration	IDA	12865919

Other IDs

• MIM: 300450
• HGNC: 24683
• e!Ensembl: ENSG00000147378

Protein

• UniProt ID: Q969F0
• Protein name: Fetal and adult testis-expressed transcript protein (Cancer/testis antigen 43) (CT43) (Tumor antigen BJ-HCC-2)
• Protein function: Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis (PubMed:27402544
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05644	Miff	13 → 183	Mitochondrial and peroxisomal fission factor Mff	Family

• Tissue specificity: TISSUE SPECIFICITY: Testis-specific in fetus (aged from 6 to 11 weeks). In adult, expressed predominantly in testis, with some expression in lung, heart, kidney, adrenal gland and whole brain (PubMed:11694338). Highly expressed in certain types of cancer
• Sequence:

  MAGGPPNTKAEMEMSLAEELNHGRQGENQEHLVIAEMMELGSRSRGASQKKQKLEQKAAG
  SASAKRVWNMTATRPKKMGSQLPKPRMLRESGHGDAHLQEYAGNFQGIRFHYDRNPGTDA
  VAQTSLEEFNVLEMEVMRRQLYAVNRRLRALEEQGATWRHRETLIIAVLVSASIANLWLW
  MNQ

• Sequence length: 183

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	27402544		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	27402544	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27402544		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	27402544		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36059531	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31036566		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	22989008		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	15580283		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30954952		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27402544		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	16288097		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30954952		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	31036566	Associate	★☆☆☆☆ Found in Text Mining only