U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MTPN myotrophin [ Homo sapiens (human) ]

Gene ID: 136319, updated on 2-Nov-2024

Summary

Official Symbol
MTPNprovided by HGNC
Official Full Name
myotrophinprovided by HGNC
Primary source
HGNC:HGNC:15667
See related
Ensembl:ENSG00000105887 MIM:606484; AllianceGenome:HGNC:15667
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
V-1; GCDP
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]
Expression
Ubiquitous expression in brain (RPKM 74.6), esophagus (RPKM 68.4) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MTPN in Genome Data Viewer
Location:
7q33
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (135926760..135977359, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (137233963..137284569, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (135611508..135662107, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:135418827-135419327 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:135429999-135431198 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:135437647-135438562 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:135438563-135439478 Neighboring gene uncharacterized LOC105375522 Neighboring gene family with sequence similarity 180 member A Neighboring gene ReSE screen-validated silencer GRCh37_chr7:135469316-135469498 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:135483822-135484042 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:135531289-135531441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18681 Neighboring gene uncharacterized LOC105375523 Neighboring gene RNA, U6 small nuclear 223, pseudogene Neighboring gene VISTA enhancer hs2077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18683 Neighboring gene MPRA-validated peak6752 silencer Neighboring gene MPRA-validated peak6754 silencer Neighboring gene MPRA-validated peak6755 silencer Neighboring gene MPRA-validated peak6756 silencer Neighboring gene MPRA-validated peak6757 silencer Neighboring gene MPRA-validated peak6758 silencer Neighboring gene TRPC6 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26722 Neighboring gene MPRA-validated peak6760 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:136083954-136084620 Neighboring gene ZP3 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ31098, FLJ99857

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in catecholamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellar granule cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cardiac muscle hypertrophy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell growth ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of macromolecule biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of barbed-end actin filament capping IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell size IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of striated muscle tissue development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of translation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of F-actin capping protein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myotrophin
Names
granule cell differentiation protein
protein V-1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_145808.4NP_665807.1  myotrophin

    See identical proteins and their annotated locations for NP_665807.1

    Status: REVIEWED

    Source sequence(s)
    AL834231, CB530008, DA325130
    Consensus CDS
    CCDS5842.1
    UniProtKB/Swiss-Prot
    P58546
    UniProtKB/TrEMBL
    Q69YG1
    Related
    ENSP00000376800.3, ENST00000393085.4
    Conserved Domains (2) summary
    sd00045
    Location:632
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:697
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    135926760..135977359 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    137233963..137284569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)