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Protein

Myotubularin-related protein 12

Gene

MTMR12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000150712-MONOMER.
BRENDAi3.1.3.64. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 12
Alternative name(s):
Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit
Short name:
3-PAP
Short name:
3-phosphatase adapter protein
Gene namesi
Name:MTMR12
Synonyms:KIAA1682, PIP3AP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:18191. MTMR12.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi54545.
OpenTargetsiENSG00000150712.
PharmGKBiPA128394670.

Polymorphism and mutation databases

BioMutaiMTMR12.
DMDMi166199459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003158251 – 747Myotubularin-related protein 12Add BLAST747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei564PhosphoserineCombined sources1
Modified residuei601PhosphoserineBy similarity1
Modified residuei716PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9C0I1.
MaxQBiQ9C0I1.
PaxDbiQ9C0I1.
PeptideAtlasiQ9C0I1.
PRIDEiQ9C0I1.

PTM databases

DEPODiQ9C0I1.
iPTMnetiQ9C0I1.
PhosphoSitePlusiQ9C0I1.

Expressioni

Tissue specificityi

Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung.1 Publication

Gene expression databases

BgeeiENSG00000150712.
CleanExiHS_MTMR12.
ExpressionAtlasiQ9C0I1. baseline and differential.
GenevisibleiQ9C0I1. HS.

Organism-specific databases

HPAiHPA051333.

Interactioni

Subunit structurei

Interacts with myotubularin MTM1 and myotubularin-related MTMR2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MTM1Q134964EBI-2829520,EBI-2864109

Protein-protein interaction databases

BioGridi120032. 7 interactors.
IntActiQ9C0I1. 5 interactors.
MINTiMINT-8216953.
STRINGi9606.ENSP00000371577.

Structurei

3D structure databases

ProteinModelPortaliQ9C0I1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini205 – 643Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST439

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni449 – 558Interaction with MTM11 PublicationAdd BLAST110

Sequence similaritiesi

Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00860000133763.
HOGENOMiHOG000113684.
HOVERGENiHBG108154.
InParanoidiQ9C0I1.
KOiK18085.
OMAiFTDEFEF.
OrthoDBiEOG091G0DYN.
PhylomeDBiQ9C0I1.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR030576. MTMR12.
IPR022587. MTMR12-like_C.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF37. PTHR10807:SF37. 1 hit.
PfamiPF12578. 3-PAP. 1 hit.
PF06602. Myotub-related. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 2 hits.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9C0I1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ
60 70 80 90 100
LLCEASTVLK YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK
110 120 130 140 150
NKVIGENDIT LHCVDQIYGV FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ
160 170 180 190 200
FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR LFLFSYATAA QNNTVTDPKN
210 220 230 240 250
HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP AYFVVPTPLP
260 270 280 290 300
EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI
310 320 330 340 350
YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD
360 370 380 390 400
IKWFSLLESS SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL
410 420 430 440 450
ISSLVQLMMD PHCRTRIGFQ SLIQKEWVMG GHCFLDRCNH LRQNDKEEVP
460 470 480 490 500
VFLLFLDCVW QLVHQHPPAF EFTETYLTVL SDSLYIPIFS TFFFNSPHQK
510 520 530 540 550
DTNMGREGQD TQSKPLNLLT VWDWSVQFEP KAQTLLKNPL YVEKPKLDKG
560 570 580 590 600
QRKGMRFKHQ RQLSLPLTQS KSSPKRGFFR EETDHLIKNL LGKRISKLIN
610 620 630 640 650
SSDELQDNFR EFYDSWHSKS TDYHGLLLPH IEGPEIKVWA QRYLRWIPEA
660 670 680 690 700
QILGGGQVAT LSKLLEMMEE VQSLQEKIDE RHHSQQAPQA EAPCLLRNSA
710 720 730 740
RLSSLFPFAL LQRHSSKPVL PTSGWKALGD EDDLAKREDE FVDLGDV
Length:747
Mass (Da):86,148
Last modified:January 15, 2008 - v2
Checksum:i1D11A678CC92F70B
GO
Isoform 2 (identifier: Q9C0I1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     505-558: Missing.

Show »
Length:693
Mass (Da):79,836
Checksum:i8B6CCEA525562479
GO
Isoform 3 (identifier: Q9C0I1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     449-558: Missing.

Show »
Length:637
Mass (Da):73,232
Checksum:iA8B29D0F41C44F7A
GO

Sequence cautioni

The sequence BAB21773 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti197D → V in BAA91195 (PubMed:14702039).Curated1
Sequence conflicti591L → M in AAK26171 (PubMed:11504939).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030721449 – 558Missing in isoform 3. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_030722505 – 558Missing in isoform 2. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028703 mRNA. Translation: AAK26171.1.
AB051469 mRNA. Translation: BAB21773.1. Different initiation.
AK000483 mRNA. Translation: BAA91195.1.
BC057393 mRNA. Translation: AAH57393.1.
AL833231 mRNA. Translation: CAH10604.1.
CCDSiCCDS34138.1. [Q9C0I1-1]
CCDS75230.1. [Q9C0I1-3]
CCDS77998.1. [Q9C0I1-2]
RefSeqiNP_001035536.1. NM_001040446.2. [Q9C0I1-1]
NP_001281272.1. NM_001294343.1. [Q9C0I1-2]
NP_001281273.1. NM_001294344.1. [Q9C0I1-3]
UniGeneiHs.481836.

Genome annotation databases

EnsembliENST00000264934; ENSP00000264934; ENSG00000150712. [Q9C0I1-3]
ENST00000280285; ENSP00000280285; ENSG00000150712. [Q9C0I1-2]
ENST00000382142; ENSP00000371577; ENSG00000150712. [Q9C0I1-1]
GeneIDi54545.
KEGGihsa:54545.
UCSCiuc003jhq.4. human. [Q9C0I1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028703 mRNA. Translation: AAK26171.1.
AB051469 mRNA. Translation: BAB21773.1. Different initiation.
AK000483 mRNA. Translation: BAA91195.1.
BC057393 mRNA. Translation: AAH57393.1.
AL833231 mRNA. Translation: CAH10604.1.
CCDSiCCDS34138.1. [Q9C0I1-1]
CCDS75230.1. [Q9C0I1-3]
CCDS77998.1. [Q9C0I1-2]
RefSeqiNP_001035536.1. NM_001040446.2. [Q9C0I1-1]
NP_001281272.1. NM_001294343.1. [Q9C0I1-2]
NP_001281273.1. NM_001294344.1. [Q9C0I1-3]
UniGeneiHs.481836.

3D structure databases

ProteinModelPortaliQ9C0I1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120032. 7 interactors.
IntActiQ9C0I1. 5 interactors.
MINTiMINT-8216953.
STRINGi9606.ENSP00000371577.

PTM databases

DEPODiQ9C0I1.
iPTMnetiQ9C0I1.
PhosphoSitePlusiQ9C0I1.

Polymorphism and mutation databases

BioMutaiMTMR12.
DMDMi166199459.

Proteomic databases

EPDiQ9C0I1.
MaxQBiQ9C0I1.
PaxDbiQ9C0I1.
PeptideAtlasiQ9C0I1.
PRIDEiQ9C0I1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264934; ENSP00000264934; ENSG00000150712. [Q9C0I1-3]
ENST00000280285; ENSP00000280285; ENSG00000150712. [Q9C0I1-2]
ENST00000382142; ENSP00000371577; ENSG00000150712. [Q9C0I1-1]
GeneIDi54545.
KEGGihsa:54545.
UCSCiuc003jhq.4. human. [Q9C0I1-1]

Organism-specific databases

CTDi54545.
DisGeNETi54545.
GeneCardsiMTMR12.
H-InvDBHIX0004786.
HGNCiHGNC:18191. MTMR12.
HPAiHPA051333.
MIMi606501. gene.
neXtProtiNX_Q9C0I1.
OpenTargetsiENSG00000150712.
PharmGKBiPA128394670.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00860000133763.
HOGENOMiHOG000113684.
HOVERGENiHBG108154.
InParanoidiQ9C0I1.
KOiK18085.
OMAiFTDEFEF.
OrthoDBiEOG091G0DYN.
PhylomeDBiQ9C0I1.
TreeFamiTF315197.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000150712-MONOMER.
BRENDAi3.1.3.64. 2681.

Miscellaneous databases

GenomeRNAii54545.
PROiQ9C0I1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150712.
CleanExiHS_MTMR12.
ExpressionAtlasiQ9C0I1. baseline and differential.
GenevisibleiQ9C0I1. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR030576. MTMR12.
IPR022587. MTMR12-like_C.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF37. PTHR10807:SF37. 1 hit.
PfamiPF12578. 3-PAP. 1 hit.
PF06602. Myotub-related. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 2 hits.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTMRC_HUMAN
AccessioniPrimary (citable) accession number: Q9C0I1
Secondary accession number(s): Q69YJ4
, Q6PFW3, Q96QU2, Q9NX27
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 30, 2016
This is version 100 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Lacks the phosphocysteine intermediate Cys active site in position 391 that is replaced by a Glu residue, preventing the hydrolase activity.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.