Gene Gene information from NCBI Gene database.
Entrez ID 55623
Gene name THUMP domain 1 NAT10 acetyltransferase adaptor
Gene symbol THUMPD1
Synonyms (NCBI Gene)
NEDSOATan1
Chromosome 16
Chromosome location 16p12.3
miRNA miRNA information provided by mirtarbase database.
804
miRTarBase ID miRNA Experiments Reference
MIRT025618 hsa-miR-10a-5p Sequencing 20371350
MIRT049931 hsa-miR-30a-5p CLASH 23622248
MIRT049811 hsa-miR-92a-3p CLASH 23622248
MIRT025618 hsa-miR-10a-5p CLASH 23622248
MIRT047484 hsa-miR-10b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 25653167, 28514442, 33961781
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616662 23807 ENSG00000066654
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NXG2
Protein name THUMP domain-containing protein 1
Protein function Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation modifying cytidine to N4-acetylcytidine (ac4C) (PubMed:25653167, PubMed:35196516).
PDB 2DIR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02926 THUMP 111 254 THUMP domain Domain
Sequence
MAAPAQQTTQPGGGKRKGKAQYVLAKRARRCDAGGPRQLEPGLQGILITCNMNERKCVEE
AYSLLNEYGDDMYGPEKFTDKDQQPSGSEGEDDDAEAALKKEVGDIKASTEMRLRRFQSV
ESGANNVVFIRTLGIEPEKLVHHILQDMYKTKKKKTRVILRMLPISGTCKAFLEDMKKYA
ETFLEPWFKAPNKGTFQIVYKSRNNSHVNREEVIRELAGIVCTLNSENKVDLTNPQYTVV
VEIIKAVCCLSVVK
DYMLFRKYNLQEVVKSPKDPSQLNSKQGNGKEAKLESADKSDQNNT
AEGKNNQQVPENTEELGQTKPTSNPQVVNEGGAKPELASQATEGSKSNENDFS
Sequence length 353
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    rRNA modification in the nucleus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder Pathogenic; Likely pathogenic rs2152417882, rs1470272788, rs2152419456, rs2152417926, rs151261045, rs772419789, rs2152417708 RCV001807782
RCV001807784
RCV001807785
RCV001807786
RCV001807787
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with speech delay and variable ocular anomalies Pathogenic; Likely pathogenic rs2152417882, rs2152419456, rs772419789, rs2152417708, rs2549312956 RCV002274212
RCV002274214
RCV002274215
RCV002274216
RCV003479923
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 8642313
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 35196516 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28076326
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34762107 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34762107 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 11314036
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 35196516 Associate
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 11078798
★☆☆☆☆
Found in Text Mining only
Facial Dysmorphism with Multiple Malformations Facial dysmorphism syndrome Pubtator 35196516 Associate
★☆☆☆☆
Found in Text Mining only
Hearing Loss Hearing loss Pubtator 35196516 Associate
★☆☆☆☆
Found in Text Mining only