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MTMR12 myotubularin related protein 12 [ Homo sapiens (human) ]

Gene ID: 54545, updated on 8-Jul-2021

Summary

Official Symbol
MTMR12provided by HGNC
Official Full Name
myotubularin related protein 12provided by HGNC
Primary source
HGNC:HGNC:18191
See related
Ensembl:ENSG00000150712 MIM:606501
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
3-PAP; PIP3AP
Summary
Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Expression
Ubiquitous expression in testis (RPKM 14.2), lung (RPKM 9.9) and 25 other tissues See more
Orthologs
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Genomic context

See MTMR12 in Genome Data Viewer
Location:
5p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (32227007..32312939, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (32227113..32313045, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene golgi phosphoprotein 3 Neighboring gene MTMR12 eExon liver enhancer Neighboring gene ribosomal protein L27 pseudogene 10 Neighboring gene RNA, U6 small nuclear 1079, pseudogene Neighboring gene RNA, U6 small nuclear 378, pseudogene Neighboring gene zinc finger RNA binding protein Neighboring gene microRNA 579 Neighboring gene transmembrane protein 183A pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatase regulator activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in toxin transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcomere IEA
Inferred from Electronic Annotation
more info
 
located_in sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myotubularin-related protein 12
Names
3-phosphatase adapter protein
3-phosphatase adapter subunit
inactive phosphatidylinositol 3-phosphatase 12
phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit
phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit
phosphatidylinositol-3-phosphate associated protein

NCBI Reference Sequences (RefSeq)

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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_001040446.3NP_001035536.1  myotubularin-related protein 12 isoform 1

    See identical proteins and their annotated locations for NP_001035536.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC025181, AY028703, BC057393
    Consensus CDS
    CCDS34138.1
    UniProtKB/Swiss-Prot
    Q9C0I1
    Related
    ENSP00000371577.3, ENST00000382142.8
    Conserved Domains (3) summary
    pfam12578
    Location:563686
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:26202
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:228496
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
  2. NM_001294343.2NP_001281272.1  myotubularin-related protein 12 isoform 1

    See identical proteins and their annotated locations for NP_001281272.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC025181, BC057393, DB483084
    Consensus CDS
    CCDS77998.1
    UniProtKB/Swiss-Prot
    Q9C0I1
    Related
    ENSP00000280285.5, ENST00000280285.9
    Conserved Domains (3) summary
    pfam12578
    Location:509632
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:26202
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:228496
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
  3. NM_001294344.2NP_001281273.1  myotubularin-related protein 12 isoform 3

    See identical proteins and their annotated locations for NP_001281273.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC025181, AK000483, BC057393
    Consensus CDS
    CCDS75230.1
    UniProtKB/Swiss-Prot
    Q9C0I1
    Related
    ENSP00000264934.5, ENST00000264934.5
    Conserved Domains (3) summary
    pfam12578
    Location:453576
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:26202
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:228454
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    32227007..32312939 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_019061.2: Suppressed sequence

    Description
    NM_019061.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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