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Atlas / Gene / FATE1

FATE1

gene
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Also known as FATECT43

Summary

FATE1 (fetal and adult testis expressed 1, HGNC:24683) is a protein-coding gene on chromosome Xq28, encoding Fetal and adult testis-expressed transcript protein (Q969F0). Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling.

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 cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation.

Source: NCBI Gene 89885 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 51 total
  • MANE Select transcript: NM_033085

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24683
Approved symbolFATE1
Namefetal and adult testis expressed 1
LocationXq28
Locus typegene with protein product
StatusApproved
AliasesFATE, CT43
Ensembl geneENSG00000147378
Ensembl biotypeprotein_coding
OMIM300450
Entrez89885

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000370350, ENST00000417321, ENST00000940339, ENST00000940340

RefSeq mRNA: 1 — MANE Select: NM_033085 NM_033085

CCDS: CCDS14700

Canonical transcript exons

ENST00000370350 — 5 exons

ExonStartEnd
ENSE00000979764151717272151717399
ENSE00000979765151721395151721501
ENSE00000979767151722628151723194
ENSE00001834754151716035151716225
ENSE00003462397151721903151721981

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2850 / max 239.0750, expressed in 5 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1979940.26964
1979950.01543

Top tissues by expression

236 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right testisUBERON:000453499.25gold quality
left testisUBERON:000453399.09gold quality
testisUBERON:000047397.79gold quality
adult organismUBERON:000702393.43gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047392.07gold quality
pancreatic ductal cellCL:000207982.98silver quality
adrenal tissueUBERON:001830374.11gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099171.15gold quality
epithelial cell of pancreasCL:000008368.57gold quality
apex of heartUBERON:000209865.41gold quality
ileal mucosaUBERON:000033164.97silver quality
deltoidUBERON:000147664.63silver quality
epithelium of nasopharynxUBERON:000195164.20gold quality
myocardiumUBERON:000234962.18gold quality
tendon of biceps brachiiUBERON:000818861.21gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451161.07gold quality
biceps brachiiUBERON:000150761.02gold quality
quadriceps femorisUBERON:000137760.69gold quality
esophagus squamous epitheliumUBERON:000692059.46gold quality
oral cavityUBERON:000016759.44gold quality
parotid glandUBERON:000183159.42gold quality
vastus lateralisUBERON:000137959.37gold quality
skin of hipUBERON:000155458.50silver quality
skeletal muscle tissue of biceps brachiiUBERON:000450258.16gold quality
gingival epitheliumUBERON:000194957.70gold quality
nasal cavity epitheliumUBERON:000538457.20gold quality
skeletal muscle tissueUBERON:000113456.72silver quality
medial globus pallidusUBERON:000247756.60gold quality
mucosa of sigmoid colonUBERON:000499356.40gold quality
deciduaUBERON:000245055.87gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-134144yes3978.63
E-GEOD-124263yes843.59
E-ANND-3no1.63

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT3A, NR5A1, STAT4

miRNA regulators (miRDB)

21 targeting FATE1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-132199.8465.301811
HSA-MIR-4756-5P99.8464.981809
HSA-MIR-473999.8465.251832
HSA-MIR-7106-5P99.5367.473574
HSA-MIR-671-5P99.5267.111277
HSA-MIR-889-5P99.4168.751025
HSA-MIR-6828-5P99.3169.211433
HSA-MIR-472199.2666.05818
HSA-MIR-6852-5P99.1766.692073
HSA-MIR-312599.1468.492269
HSA-MIR-391698.9968.042155
HSA-MIR-6859-5P98.9968.072049
HSA-MIR-315498.9466.551455
HSA-MIR-219A-1-3P98.9167.87639
HSA-MIR-58398.7167.441791
HSA-MIR-4700-5P98.6367.431915
HSA-MIR-317998.2265.901445
HSA-MIR-3192-5P96.9865.761926
HSA-MIR-656-5P96.8267.67372

Literature-anchored findings (GeneRIF, showing 4)

  • This study has shown that only 1.4% of infertile men have mutations in the FATE gene, and that some of these mutations do not singly cause infertility. (PMID:12811541)
  • FATE1 is a key survival factor in multiple oncogenic backgrounds. FATE1 prevents the accumulation of the stress-sensing BH3-only protein, BCL-2-Interacting Killer (BIK), thereby permitting viability in the presence of toxic stimuli. (PMID:26567849)
  • In patients with ACC, FATE1 expression in their tumor is inversely correlated with their overall survival. the ER-mitochondria uncoupling activity of FATE1 is harnessed by cancer cells to escape apoptotic death and resist the action of chemotherapeutic drugs. (PMID:27402544)
  • Study reports that EWSR1-FLI1 directly activates the anomalous expression of FATE1 in Ewing sarcoma. FATE1 is essential for Ewing sarcoma survival through the destabilization of BNIP3L, a poorly characterized BH3-only protein that is toxic to Ewing sarcoma cells. (PMID:31036566)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusFate1ENSMUSG00000053593
rattus_norvegicusENSRNOG00000066670

Protein

Protein identifiers

Fetal and adult testis-expressed transcript protein — Q969F0 (reviewed: Q969F0)

Alternative names: Cancer/testis antigen 43, Tumor antigen BJ-HCC-2

All UniProt accessions (2): Q969F0, H7C1I5

UniProt curated annotations — full annotation on UniProt →

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. May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling.

Subunit / interactions. Interacts with BIK and RNF183. Interacts with IMMT/MIC60and EMD.

Subcellular location. Mitochondrion. Mitochondrion outer membrane. Endoplasmic reticulum membrane.

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. Highly expressed in certain types of cancer tissues such as hepatocellular carcinoma, colon and gastric cancer. Weakly expressed in normal pancreas.

RefSeq proteins (1): NP_149076* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR039153FATE1Family
IPR039433Mff-like_domDomain

Pfam: PF05644

UniProt features (7 total): sequence variant 3, chain 1, transmembrane region 1, region of interest 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q969F0-F164.370.18

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

PositionPhenotype
151impairs association with mitochondria.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GOBP_MITOCHONDRIAL_CALCIUM_ION_HOMEOSTASIS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOCC_ORGANELLE_MEMBRANE_CONTACT_SITE, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING, GOCC_ORGANELLE_ENVELOPE, chrXq28, GOCC_MITOCHONDRIA_ASSOCIATED_ENDOPLASMIC_RETICULUM_MEMBRANE_CONTACT_SITE, GSE10500_ARTHRITIC_SYNOVIAL_FLUID_VS_HEALTHY_MACROPHAGE_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_24H_ACT_CD4_TCELL_UP, GSE12484_HEALTHY_VS_PERIDONTITIS_NEUTROPHILS_UP

GO Biological Process (4): apoptotic process (GO:0006915), negative regulation of apoptotic process (GO:0043066), negative regulation of mitochondrial calcium ion concentration (GO:0051562), regulation of apoptotic process (GO:0042981)

GO Molecular Function (3): ubiquitin protein ligase binding (GO:0031625), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (7): mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), mitochondria-associated endoplasmic reticulum membrane contact site (GO:0044233), cytoplasm (GO:0005737), mitochondrion (GO:0005739), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
apoptotic process2
cytoplasm2
intracellular membrane-bounded organelle2
cellular anatomical structure2
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
regulation of apoptotic process1
negative regulation of programmed cell death1
mitochondrial calcium ion homeostasis1
regulation of programmed cell death1
ubiquitin-like protein ligase binding1
protein binding1
binding1
mitochondrial membrane1
organelle outer membrane1
endomembrane system1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
organelle membrane contact site1
intracellular anatomical structure1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FATE1EMDP50402807
FATE1RNF183Q96D59747
FATE1PROSER2Q86WR7659
FATE1FMR1NBQ8N0W7507
FATE1SPANXCQ9NY87506
FATE1SPANXDQ9BXN6506
FATE1ZNF165P49910478
FATE1CD180Q99467476
FATE1CAV1Q03135462
FATE1CCDC110Q8TBZ0447
FATE1XAGE1BQ9HD64447
FATE1CAGE1Q8TC20434
FATE1YJU2BP13994406
FATE1MYCP01106404
FATE1PACS2Q86VP3390

IntAct

432 interactions, top by confidence:

ABTypeScore
EMDFATE1psi-mi:“MI:0915”(physical association)0.850
FATE1BIKpsi-mi:“MI:0915”(physical association)0.830
CCDC70FATE1psi-mi:“MI:0915”(physical association)0.780
FATE1NRG4psi-mi:“MI:0915”(physical association)0.780
INPP5KFATE1psi-mi:“MI:0915”(physical association)0.780
FATE1CCDC70psi-mi:“MI:0915”(physical association)0.780
NRG4FATE1psi-mi:“MI:0915”(physical association)0.780
FATE1INPP5Kpsi-mi:“MI:0915”(physical association)0.780
CD79AFATE1psi-mi:“MI:0915”(physical association)0.720
SLC7A1FATE1psi-mi:“MI:0915”(physical association)0.720
FATE1BNIP2psi-mi:“MI:0915”(physical association)0.720
FATE1BNIP3psi-mi:“MI:0915”(physical association)0.720
FATE1PRRG2psi-mi:“MI:0915”(physical association)0.720
FATE1BCL2L2psi-mi:“MI:0915”(physical association)0.720
FATE1KASH5psi-mi:“MI:0915”(physical association)0.720
FATE1SEC22Apsi-mi:“MI:0915”(physical association)0.720
FATE1SEC22Cpsi-mi:“MI:0915”(physical association)0.720

BioGRID (150): FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid), FATE1 (Two-hybrid)

ESM2 similar proteins: A0A0P0WFC8, A1L1K1, A2APA5, A2ARM1, A2AVJ5, A5A777, A5WV69, A7YY97, D1FP57, D3ZR35, E9Q942, H3BTG2, O15482, O82259, P14232, P59773, Q08176, Q14CH0, Q2KHT9, Q2KIK3, Q2T9Z2, Q39162, Q39237, Q498C7, Q4V9P3, Q5E9R0, Q5EB20, Q5FVH8, Q5RA87, Q5XIC3, Q6GPM0, Q6MZQ0, Q6P566, Q6P995, Q751Y8, Q7L3B6, Q8AWD1, Q8BQP9, Q8CEK7, Q8N0W7

Diamond homologs: Q3ZCD8, Q4KM98, Q503U3, Q5R795, Q6DD53, Q6GQI8, Q6PCP5, Q7SZQ4, Q969F0, Q9GZY8, Q8CEK7, Q95LA0, Q95LB4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

51 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance31
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

830 predictions. Top by Δscore:

VariantEffectΔscore
X:151716219:A:AGdonor_gain1.0000
X:151716222:GCAG:Gdonor_gain1.0000
X:151716224:AGGT:Adonor_loss1.0000
X:151716226:G:GAdonor_loss1.0000
X:151716226:G:GGdonor_gain1.0000
X:151721393:AG:Aacceptor_gain1.0000
X:151721393:AGG:Aacceptor_gain1.0000
X:151721394:GG:Gacceptor_gain1.0000
X:151721394:GGG:Gacceptor_gain1.0000
X:151721480:GCA:Gdonor_gain1.0000
X:151721901:A:AGacceptor_gain1.0000
X:151721902:G:GTacceptor_gain1.0000
X:151721902:GC:Gacceptor_gain1.0000
X:151721902:GCA:Gacceptor_gain1.0000
X:151721902:GCAA:Gacceptor_gain1.0000
X:151721902:GCAAC:Gacceptor_gain1.0000
X:151721904:A:AGacceptor_gain1.0000
X:151721905:A:Gacceptor_gain1.0000
X:151721964:G:GTdonor_gain1.0000
X:151721977:GACAG:Gdonor_gain1.0000
X:151721982:G:GGdonor_gain1.0000
X:151722563:T:TAacceptor_gain1.0000
X:151722627:GCT:Gacceptor_gain1.0000
X:151722627:GCTGT:Gacceptor_gain1.0000
X:151717270:A:AGacceptor_gain0.9900
X:151717271:G:GGacceptor_gain0.9900
X:151717271:GA:Gacceptor_gain0.9900
X:151717271:GAA:Gacceptor_gain0.9900
X:151717271:GAAAT:Gacceptor_gain0.9900
X:151717398:TGG:Tdonor_loss0.9900

AlphaMissense

1190 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
X:151722724:A:CS173R0.977
X:151722726:C:AS173R0.977
X:151722726:C:GS173R0.977
X:151722629:T:CL141P0.942
X:151722722:C:AA172D0.937
X:151722650:T:CL148P0.936
X:151722739:T:AW178R0.926
X:151722739:T:CW178R0.926
X:151722731:C:AA175D0.922
X:151722647:G:CR147P0.896
X:151722707:C:AA167D0.896
X:151722662:A:TE152V0.890
X:151722737:T:CL177P0.884
X:151722716:T:AV170E0.883
X:151722735:C:AN176K0.874
X:151722735:C:GN176K0.874
X:151722713:T:GL169R0.870
X:151722743:T:CL179P0.865
X:151721959:A:TE133V0.863
X:151722710:T:AV168E0.859
X:151722728:T:AI174N0.858
X:151721980:A:CQ140P0.850
X:151722659:T:CL151P0.846
X:151722655:G:CA150P0.840
X:151722663:G:CE152D0.839
X:151722663:G:TE152D0.839
X:151722721:G:CA172P0.835
X:151722745:T:AW180R0.833
X:151722745:T:CW180R0.833
X:151722692:A:TE162V0.827

dbSNP variants (sampled 300 via entrez): RS1000098596 (X:151719180 G>A), RS1000566062 (X:151716767 C>T), RS1001411260 (X:151720117 G>A), RS1002080607 (X:151717494 C>A,T), RS1002290591 (X:151718413 A>G), RS1002492191 (X:151717968 C>G), RS1003697297 (X:151719464 C>T), RS1003745136 (X:151719967 A>G), RS1003813022 (X:151718219 G>A), RS1003906009 (X:151718602 T>C), RS1004798714 (X:151716365 T>C), RS1004934329 (X:151716718 C>A,T), RS1005797727 (X:151715730 C>G), RS1006161214 (X:151715431 G>T), RS1006219046 (X:151722489 C>T)

Disease associations

OMIM: gene MIM:300450 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST008887_8Systemising1.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0010221systemising measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
sotorasibaffects cotreatment, increases expression1
sodium arseniteincreases expression1
CGP 52608affects binding, increases reaction1
trametinibaffects cotreatment, increases expression1
NVP-BKM120affects cotreatment, increases expression1
Decitabineincreases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Valproic Aciddecreases methylation1
Aflatoxin B1increases methylation1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot