1. Gene
  2. NPAT - nuclear protein, coactivator of histone transcription Gene

NPAT - nuclear protein, coactivator of histone transcription Gene

Homo sapiens

Also known as E14; p220; E14/NPAT

Gene ID: 4863 | Gene type: protein coding

About NPAT

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,157,215-108,222,638 (from NCBI)

This gene has 6 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in lymph node (RPKM 6.0), spleen (RPKM 3.9) and 25 other tissues.

Summary

Enables protein C-terminus binding activity; transcription coactivator activity; and transcription corepressor activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of transcription involved in G1/S transition of mitotic cell cycle. Located in Cajal body; Gemini of coiled bodies; and cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

NPAT Products(2)

mRNA Protein Name
NM_001321307.1 NP_001308236.1 protein NPAT isoform 1
NM_002519.3 NP_002510.2 protein NPAT isoform 2
Protein Preferred Names Protein Names

protein NPAT

nuclear protein of the ATM locus

Related Diseases

Diseases Alias
Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Nasal Cavity Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Nasal Cavity

Squamous Cell Carcinoma Of The Nasal Cavity

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

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
Canis familiaris NPAT VGNC VGNC:50638
Mus musculus NPAT MGD MGI:107605
Felis catus NPAT VGNC VGNC:68527
Bos taurus NPAT VGNC VGNC:50617
Rattus norvegicus NPAT RGD RGD:1311947
Macaca mulatta NPAT VGNC VGNC:75379