1. Gene
  2. MTPN - myotrophin Gene

MTPN - myotrophin Gene

Homo sapiens

Also known as V-1; GCDP

Gene ID: 136319 | Gene type: protein coding

About MTPN

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:135,926,760-135,977,359 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 74.6), esophagus (RPKM 68.4) and 24 other tissues.

Summary

The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]

MTPN Products(1)

mRNA Protein Name
NM_145808.4 NP_665807.1 myotrophin
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of cardiac muscle hypertrophy IMP
IMP: Inferred from mutant phenotype
10329199 GOA
involved in regulation of barbed-end actin filament capping IDA
IDA: Inferred from direct assay
16895918 GOA
involved in regulation of cell size IDA
IDA: Inferred from direct assay
10329199 GOA
Cellular Component GO Annotation Evidence Reference Source
part of F-actin capping protein complex IDA
IDA: Inferred from direct assay
16895918 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

MTPN Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (7 - 97)

  • 0
  • 100
  • 118 a.a.
Protein Preferred Names Protein Names

myotrophin

granule cell differentiation protein

Related Diseases

Diseases Alias
Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Lujo Hemorrhagic Fever

Zambian Hemorrhagic Fever

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Bos taurus MTPN VGNC VGNC:50020
Felis catus MTPN VGNC VGNC:63658
Macaca mulatta MTPN VGNC VGNC:74962
Rattus norvegicus MTPN RGD RGD:619806
Canis familiaris MTPN VGNC VGNC:51815
Mus musculus MTPN MGD MGI:99445