THUMPD1 - THUMP domain containing 1 Gene

Also Known as Tan1; NEDSOA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55623

About THUMPD1

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,733,664-20,741,818 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues and is associated with 1 phenotype. Ubiquitous expression in prostate (RPKM 15.3), endometrium (RPKM 11.9) and 25 other tissues.

Summary

Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

THUMPD1 Products (2)

mRNA Protein Name
NM_001304550.2 NP_001291479.1 THUMP domain-containing protein 1
NM_017736.5 NP_060206.2 THUMP domain-containing protein 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25653167 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

THUMPD1 Protein Structure

THUMP

THUMP: THUMP domain (121 - 253)

  • 0
  • 100
  • 200
  • 300
  • 353 a.a.
Protein Preferred Names Protein Names

THUMP domain-containing protein 1

THUMPD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
THUMPD1 Q9NXG2 NAT10 Homo sapiens Q9H0A0 28514442
Intra
THUMPD1 Q9NXG2 NAT10 Homo sapiens Q9H0A0 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
  • NEDSOA

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Theileriasis
  • Theileriosis

  • Infection By Theileria

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus THUMPD1 MGD MGI:2444479
Rattus norvegicus THUMPD1 RGD RGD:1308854
Bos taurus THUMPD1 VGNC VGNC:35853
Macaca mulatta THUMPD1 VGNC VGNC:99610
Canis familiaris THUMPD1 VGNC VGNC:47360
Others THUMPD1 NCBI