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MTPN myotrophin [ Homo sapiens (human) ]

Gene ID: 136319, updated on 6-Sep-2017
Official Symbol
MTPNprovided by HGNC
Official Full Name
myotrophinprovided by HGNC
Primary source
HGNC:HGNC:15667
See related
Ensembl:ENSG00000105887 MIM:606484; Vega:OTTHUMG00000155627
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]
Orthologs
Location:
7q33
Exon count:
4
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (135926755..135977456, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (135611503..135662204, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986851 Neighboring gene uncharacterized LOC105375522 Neighboring gene family with sequence similarity 180 member A Neighboring gene uncharacterized LOC105375523 Neighboring gene RNA, U6 small nuclear 223, pseudogene Neighboring gene leucine zipper protein 6 Neighboring gene zona pellucida glycoprotein 3 (sperm receptor) pseudogene

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ31098, FLJ99857

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
catecholamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
cell growth IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebellar granule cell differentiation IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac muscle hypertrophy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of macromolecule biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of barbed-end actin filament capping IDA
Inferred from Direct Assay
more info
PubMed 
regulation of striated muscle tissue development NAS
Non-traceable Author Statement
more info
PubMed 
regulation of translation NAS
Non-traceable Author Statement
more info
PubMed 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
F-actin capping protein complex IDA
Inferred from Direct Assay
more info
PubMed 
axon IEA
Inferred from Electronic Annotation
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myotrophin
Names
granule cell differentiation protein
protein V-1

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_145808.3NP_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, OTTHUMP00000208354, ENST00000393085.3, OTTHUMT00000340921
    Conserved Domains (2) summary
    cd00204
    Location:6117
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:632
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

    Range
    135926755..135977456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    135545252..135596008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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