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Protein

Myotubularin-related protein 12

Gene

MTMR12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Caution

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

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

BRENDAi3.1.3.64 2681
ReactomeiR-HSA-1660516 Synthesis of PIPs at the early endosome membrane

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

EuPathDBiHostDB:ENSG00000150712.10
HGNCiHGNC:18191 MTMR12
MIMi606501 gene
neXtProtiNX_Q9C0I1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi80050
80051 [Q9C0I1-2]
80052 [Q9C0I1-3]

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 Expressed in 205 organ(s), highest expression level in adipose tissue
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, 24 interactors
IntActiQ9C0I1, 5 interactors
MINTiQ9C0I1
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

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00920000149050
HOGENOMiHOG000113684
HOVERGENiHBG108154
InParanoidiQ9C0I1
KOiK18085
OMAiSDKDKMF
OrthoDBiEOG091G0DYN
PhylomeDBiQ9C0I1
TreeFamiTF315197

Family and domain databases

InterProiView protein in InterPro
IPR030576 MTMR12
IPR022587 MTMR12-like_C
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR029021 Prot-tyrosine_phosphatase-like
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF37 PTHR10807:SF37, 1 hit
PfamiView protein in Pfam
PF12578 3-PAP, 1 hit
PF06602 Myotub-related, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RHK0D6RHK0_HUMAN
Myotubularin-related protein 12
MTMR12
38Annotation score:
D6RE76D6RE76_HUMAN
Myotubularin-related protein 12
MTMR12
39Annotation score:

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

Similar proteinsi

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, 24 interactors
IntActiQ9C0I1, 5 interactors
MINTiQ9C0I1
STRINGi9606.ENSP00000371577

PTM databases

DEPODiQ9C0I1
iPTMnetiQ9C0I1
PhosphoSitePlusiQ9C0I1

Polymorphism and mutation databases

BioMutaiMTMR12
DMDMi166199459

Proteomic databases

EPDiQ9C0I1
MaxQBiQ9C0I1
PaxDbiQ9C0I1
PeptideAtlasiQ9C0I1
PRIDEiQ9C0I1
ProteomicsDBi80050
80051 [Q9C0I1-2]
80052 [Q9C0I1-3]

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
EuPathDBiHostDB:ENSG00000150712.10
GeneCardsiMTMR12
H-InvDBiHIX0004786
HGNCiHGNC:18191 MTMR12
HPAiHPA051333
MIMi606501 gene
neXtProtiNX_Q9C0I1
OpenTargetsiENSG00000150712
PharmGKBiPA128394670
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00920000149050
HOGENOMiHOG000113684
HOVERGENiHBG108154
InParanoidiQ9C0I1
KOiK18085
OMAiSDKDKMF
OrthoDBiEOG091G0DYN
PhylomeDBiQ9C0I1
TreeFamiTF315197

Enzyme and pathway databases

BRENDAi3.1.3.64 2681
ReactomeiR-HSA-1660516 Synthesis of PIPs at the early endosome membrane

Miscellaneous databases

ChiTaRSiMTMR12 human
GenomeRNAii54545
PROiPR:Q9C0I1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150712 Expressed in 205 organ(s), highest expression level in adipose tissue
CleanExiHS_MTMR12
ExpressionAtlasiQ9C0I1 baseline and differential
GenevisibleiQ9C0I1 HS

Family and domain databases

InterProiView protein in InterPro
IPR030576 MTMR12
IPR022587 MTMR12-like_C
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR029021 Prot-tyrosine_phosphatase-like
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF37 PTHR10807:SF37, 1 hit
PfamiView protein in Pfam
PF12578 3-PAP, 1 hit
PF06602 Myotub-related, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMTMRC_HUMAN
AccessioniPrimary (citable) accession number: Q9C0I1
Secondary accession number(s): Q69YJ4
, Q6PFW3, Q96QU2, Q9NX27
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 7, 2018
This is version 114 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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