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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14508	THUMPD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.