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Aliases for MTPN Gene

Aliases for MTPN Gene

  • Myotrophin 2 3 3 5
  • Granule Cell Differentiation Protein 2 3
  • Protein V-1 3 4
  • GCDP 3
  • V-1 3

External Ids for MTPN Gene

Previous GeneCards Identifiers for MTPN Gene

  • GC07U990334
  • GC07M133953
  • GC07M135013
  • GC07M135027
  • GC07M135068
  • GC07M135262
  • GC07M135613

Summaries for MTPN Gene

Entrez Gene Summary for MTPN Gene

  • 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]

GeneCards Summary for MTPN Gene

MTPN (Myotrophin) is a Protein Coding gene. Diseases associated with MTPN include Muscle Hypertrophy.

UniProtKB/Swiss-Prot for MTPN Gene

  • Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.

Gene Wiki entry for MTPN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTPN Gene

Genomics for MTPN Gene

Regulatory Elements for MTPN Gene

Enhancers for MTPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G135942 1.2 ENCODE dbSUPER 19.6 +34.2 34233 2.0 PKNOX1 ATF1 ARNT E2F7 TCF12 PAF1 NCOA1 JUNB TBX21 SMARCB1 MTPN RNU6-223P GC07M135928
GH07G135938 0.9 dbSUPER 19.5 +38.6 38558 1.5 PKNOX1 CBX3 ATF1 TBL1XR1 ARNT CHAMP1 TCF12 ELK1 GATA2 EGR1 MTPN GC07M135928 RNU6-223P
GH07G135979 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.4 -4.2 -4207 4.9 HDGF PKNOX1 CREB3L1 ARNT FEZF1 ZNF2 ZNF766 CBX5 FOS JUNB RNU6-1154P MTPN CNOT4 LUZP6 LOC105375523
GH07G135940 0.9 dbSUPER 16.7 +36.4 36371 1.6 ARNT TCF12 EGR1 CAVIN1 ZBTB2 ZBTB11 ZEB2 HDAC8 ZNF592 POLR2H MTPN GC07M135928 RNU6-223P
GH07G135970 1.7 Ensembl ENCODE dbSUPER 8.4 +3.1 3062 7.6 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MTPN LUZP6 RNU6-223P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTPN on UCSC Golden Path with GeneCards custom track

Promoters for MTPN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218652 456 2001 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 SP3 NFYC

Genomic Location for MTPN Gene

Chromosome:
7
Start:
135,926,755 bp from pter
End:
135,977,456 bp from pter
Size:
50,702 bases
Orientation:
Minus strand

Genomic View for MTPN Gene

Genes around MTPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTPN Gene

Proteins for MTPN Gene

  • Protein details for MTPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58546-MTPN_HUMAN
    Recommended name:
    Myotrophin
    Protein Accession:
    P58546

    Protein attributes for MTPN Gene

    Size:
    118 amino acids
    Molecular mass:
    12895 Da
    Quaternary structure:
    • Interacts with RELA (By similarity). Interacts with the heterodimer formed by CAPZA1 and CAPZB.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the MPD6 protein from a non-overlapping reading frame. MPD6 belongs to a group of cryptic antigens without conventional genomic structure. It is encoded by a cryptic open reading frame located in the 3-untranslated region of MTPN.

    Three dimensional structures from OCA and Proteopedia for MTPN Gene

neXtProt entry for MTPN Gene

Post-translational modifications for MTPN Gene

  • Ubiquitination at posLast=44 and Lys11
  • Modification sites at PhosphoSitePlus

Other Protein References for MTPN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MTPN Gene

Domains & Families for MTPN Gene

Gene Families for MTPN Gene

Protein Domains for MTPN Gene

Suggested Antigen Peptide Sequences for MTPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58546

UniProtKB/Swiss-Prot:

MTPN_HUMAN :
  • Belongs to the myotrophin family.
Family:
  • Belongs to the myotrophin family.
genes like me logo Genes that share domains with MTPN: view

Function for MTPN Gene

Molecular function for MTPN Gene

UniProtKB/Swiss-Prot Function:
Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.
UniProtKB/Swiss-Prot Induction:
Up-regulated in heart left ventricle of patients with severe coronary artery disease and history of myocardial ischemia. Up-regulated in heart left ventricle of patients with dilated cardiomyopathy.

Gene Ontology (GO) - Molecular Function for MTPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with MTPN: view
genes like me logo Genes that share phenotypes with MTPN: view

Animal Model Products

miRNA for MTPN Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MTPN

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTPN Gene

Localization for MTPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTPN Gene

Cytoplasm. Nucleus. Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTPN gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for MTPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS,IEA --
GO:0008290 F-actin capping protein complex IDA 16895918
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with MTPN: view

Pathways & Interactions for MTPN Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation NAS 12031792
GO:0006584 catecholamine metabolic process IEA --
GO:0010557 positive regulation of macromolecule biosynthetic process IEA,ISS --
GO:0010613 positive regulation of cardiac muscle hypertrophy IMP 10329199
GO:0016049 cell growth IDA 10329199
genes like me logo Genes that share ontologies with MTPN: view

No data available for Pathways by source and SIGNOR curated interactions for MTPN Gene

Drugs & Compounds for MTPN Gene

(2) Drugs for MTPN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MTPN: view

Transcripts for MTPN Gene

mRNA/cDNA for MTPN Gene

Unigene Clusters for MTPN Gene

Myotrophin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MTPN

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTPN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: - -

Relevant External Links for MTPN Gene

GeneLoc Exon Structure for
MTPN
ECgene alternative splicing isoforms for
MTPN

Expression for MTPN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTPN Gene

Protein differential expression in normal tissues from HIPED for MTPN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTPN Gene



Protein tissue co-expression partners for MTPN Gene

NURSA nuclear receptor signaling pathways regulating expression of MTPN Gene:

MTPN

SOURCE GeneReport for Unigene cluster for MTPN Gene:

Hs.602015

mRNA Expression by UniProt/SwissProt for MTPN Gene:

P58546-MTPN_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MTPN Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Skin(3)
  • Heart(2.7)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with MTPN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTPN Gene

Orthologs for MTPN Gene

This gene was present in the common ancestor of animals.

Orthologs for MTPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTPN 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mtpn 34 16 35
  • 97.46 (n)
rat
(Rattus norvegicus)
Mammalia Mtpn 34
  • 96.89 (n)
dog
(Canis familiaris)
Mammalia MTPN 34 35
  • 96.05 (n)
cow
(Bos Taurus)
Mammalia MTPN 34 35
  • 94.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTPN 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTPN 34 35
  • 90.68 (n)
lizard
(Anolis carolinensis)
Reptilia MTPN 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtpn 34
  • 74.29 (n)
MGC76285 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5094 34
zebrafish
(Danio rerio)
Actinopterygii mtpn 34 35
  • 72.88 (n)
wufa10f07 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7923 34
fruit fly
(Drosophila melanogaster)
Insecta CG31715 34 35
  • 60.63 (n)
CG7423 35
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C43H6.3 34 35
  • 51.99 (n)
Species where no ortholog for MTPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTPN Gene

ENSEMBL:
Gene Tree for MTPN (if available)
TreeFam:
Gene Tree for MTPN (if available)

Paralogs for MTPN Gene

No data available for Paralogs for MTPN Gene

Variants for MTPN Gene

Sequence variations from dbSNP and Humsavar for MTPN Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000031670 -- 135,977,455(+) ACTAG(-/TGCGCA)TGCGC utr-variant-5-prime
rs1000104844 -- 135,977,363(+) TTCCG(C/G)TTCAC utr-variant-5-prime
rs1000132480 -- 135,964,943(+) CCAGC(A/G)TGCTG intron-variant
rs1000209192 -- 135,960,240(+) AAAGG(A/G)GATGT intron-variant
rs1000230659 -- 135,971,935(+) CTGCA(A/G)GCTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTPN Gene

Variant ID Type Subtype PubMed ID
nsv824314 CNV loss 20364138
nsv949952 CNV duplication 24416366

Variation tolerance for MTPN Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTPN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTPN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTPN Gene

Disorders for MTPN Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTPN Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
muscle hypertrophy
  • myostatin-related muscle hypertrophy
- elite association - COSMIC cancer census association via MalaCards
Search MTPN in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTPN

Genetic Association Database (GAD)
MTPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTPN
genes like me logo Genes that share disorders with MTPN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTPN Gene

Publications for MTPN Gene

  1. Assignment of myotrophin to human chromosome band 7q33-->q35 by in situ hybridization. (PMID: 11474205) Mitra S. … Sen S. (Cytogenet. Cell Genet. 2001) 2 3 22 64
  2. cDNA sequence and characterization of the gene that encodes human myotrophin/V-1 protein, a mediator of cardiac hypertrophy. (PMID: 10329199) Anderson K.M. … Chabot-Fletcher M. (J. Mol. Cell. Cardiol. 1999) 3 4 22 64
  3. Binding of myotrophin/V-1 to actin-capping protein: implications for how capping protein binds to the filament barbed end. (PMID: 16895918) Bhattacharya N. … Cooper J.A. (J. Biol. Chem. 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for MTPN Gene

Sources for MTPN Gene

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