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  2. THUMPD1 - THUMP domain containing 1 Gene

THUMPD1 - THUMP domain containing 1 Gene

Homo sapiens

Also known as Tan1; NEDSOA

Gene ID: 55623 | Gene type: protein coding

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

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

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