MTMR12
Myotubularin-related protein 12
Also known as: 3-PAP, 3PAP, FLJ20476, KIAA1682, MTMRC_HUMAN, PIP3AP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C0I1
- Gene
- MTMR12
- Ensembl
- ENSG00000150712
- Chromosome
- 5
- Canonical length
- 747 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
747 residues, UniProt reviewed canonical sequence.
>Q9C0I1|MTMR12
1 MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ LLCEASTVLK
61 YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK NKVIGENDIT LHCVDQIYGV
121 FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR
181 LFLFSYATAA QNNTVTDPKN HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP
241 AYFVVPTPLP EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI
301 YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD IKWFSLLESS
361 SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL ISSLVQLMMD PHCRTRIGFQ
421 SLIQKEWVMG GHCFLDRCNH LRQNDKEEVP VFLLFLDCVW QLVHQHPPAF EFTETYLTVL
481 SDSLYIPIFS TFFFNSPHQK DTNMGREGQD TQSKPLNLLT VWDWSVQFEP KAQTLLKNPL
541 YVEKPKLDKG QRKGMRFKHQ RQLSLPLTQS KSSPKRGFFR EETDHLIKNL LGKRISKLIN
601 SSDELQDNFR EFYDSWHSKS TDYHGLLLPH IEGPEIKVWA QRYLRWIPEA QILGGGQVAT
661 LSKLLEMMEE VQSLQEKIDE RHHSQQAPQA EAPCLLRNSA RLSSLFPFAL LQRHSSKPVL
721 PTSGWKALGD EDDLAKREDE FVDLGDVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MTMR12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 23 nTPM
- parathyroid gland: 20 nTPM
- fallopian tube: 20 nTPM
- testis: 18 nTPM
- adipose tissue: 17 nTPM
- lymph node: 16 nTPM
Single-cell type
- megakaryocytes: 210 nCPM
- lacrimal acinar cells: 155 nCPM
- endometrial ciliated cells: 148 nCPM
- salivary acinar cells: 142 nCPM
- pancreatic duct cells: 134 nCPM
- mucous neck cells: 132 nCPM
Immune cell
- basophil: 7.5 nTPM
- intermediate monocyte: 4.7 nTPM
- eosinophil: 3.1 nTPM
- gdT-cell: 3.1 nTPM
- neutrophil: 3 nTPM
- plasmacytoid DC: 2.9 nTPM
Brain region
- cerebral cortex: 34 nTPM
- basal ganglia: 28 nTPM
- amygdala: 27 nTPM
- hippocampal formation: 27 nTPM
- white matter: 26 nTPM
- cerebellum: 24 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.3
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Myotubularin-like, phosphatase domain
- PH-like domain superfamily
- Myotubularin-related 12-like C-terminal domain
- Protein-tyrosine phosphatase-like
- Myotubularin
- Myotubularin-like phosphatase domain
- Myotubularin-associated protein
- Myotubularin-related protein 12, protein tyrosine phosphatase-like pseudophosphatase domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MTMR12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MTMR12 as an antibody target. Whether an autoantibody or antibody against MTMR12 could matter depends on whether native MTMR12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MTMR12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MTMR12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...