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Protein

Myotubularin-related protein 10

Gene

MTMR10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).Curated

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166912-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 10
Gene namesi
Name:MTMR10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:25999. MTMR10.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000166912.
ENSG00000277086.
PharmGKBiPA128394676.

Polymorphism and mutation databases

BioMutaiMTMR10.
DMDMi215274131.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002843601 – 777Myotubularin-related protein 10Add BLAST777

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei607PhosphoserineCombined sources1
Modified residuei751PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NXD2.
PaxDbiQ9NXD2.
PeptideAtlasiQ9NXD2.
PRIDEiQ9NXD2.

PTM databases

DEPODiQ9NXD2.
iPTMnetiQ9NXD2.
PhosphoSitePlusiQ9NXD2.

Expressioni

Gene expression databases

BgeeiENSG00000166912.
CleanExiHS_MTMR10.
ExpressionAtlasiQ9NXD2. baseline and differential.
GenevisibleiQ9NXD2. HS.

Organism-specific databases

HPAiHPA006081.

Interactioni

Protein-protein interaction databases

BioGridi120240. 4 interactors.
IntActiQ9NXD2. 5 interactors.
MINTiMINT-1200677.
STRINGi9606.ENSP00000402537.

Structurei

3D structure databases

ProteinModelPortaliQ9NXD2.
SMRiQ9NXD2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini221 – 661Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST441

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi198 – 213Poly-GlyAdd BLAST16

Sequence similaritiesi

Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00860000133763.
HOGENOMiHOG000113684.
HOVERGENiHBG108154.
InParanoidiQ9NXD2.
KOiK18085.
OMAiGFITAFH.
OrthoDBiEOG091G0DYN.
PhylomeDBiQ9NXD2.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR030573. MTMR10.
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. 2 hits.
PTHR10807:SF39. PTHR10807:SF39. 2 hits.
PfamiPF12578. 3-PAP. 1 hit.
PF06602. Myotub-related. 2 hits.
[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: Q9NXD2-1) [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
MFSLKPPKPT FRSYLLPPPQ TDDKINSEPK IKKLEPVLLP GEIVVNEVNF
60 70 80 90 100
VRKCIATDTS QYDLWGKLIC SNFKISFITD DPMPLQKFHY RNLLLGEHDV
110 120 130 140 150
PLTCIEQIVT VNDHKRKQKV LGPNQKLKFN PTELIIYCKD FRIVRFRFDE
160 170 180 190 200
SGPESAKKVC LAIAHYSQPT DLQLLFAFEY VGKKYHNSAN KINGIPSGDG
210 220 230 240 250
GGGGGGGNGA GGGSSQKTPL FETYSDWDRE IKRTGASGWR VCSINEGYMI
260 270 280 290 300
STCLPEYIVV PSSLADQDLK IFSHSFVGRR MPLWCWSHSN GSALVRMALI
310 320 330 340 350
KDVLQQRKID QRICNAITKS HPQRSDVYKS DLDKTLPNIQ EVQAAFVKLK
360 370 380 390 400
QLCVNEPFEE TEEKWLSSLE NTRWLEYVRA FLKHSAELVY MLESKHLSVV
410 420 430 440 450
LQEEEGRDLS CCVASLVQVM LDPYFRTITG FQSLIQKEWV MAGYQFLDRC
460 470 480 490 500
NHLKRSEKES PLFLLFLDAT WQLLEQYPAA FEFSETYLAV LYDSTRISLF
510 520 530 540 550
GTFLFNSPHQ RVKQSTEFAI SKNIQLGDEK GLKFPSVWDW SLQFTAKDRT
560 570 580 590 600
LFHNPFYIGK STPCIQNGSV KSFKRTKKSY SSTLRGMPSA LKNGIISDQE
610 620 630 640 650
LLPRRNSLIL KPKPDPAQQT DSQNSDTEQY FREWFSKPAN LHGVILPRVS
660 670 680 690 700
GTHIKLWKLC YFRWVPEAQI SLGGSITAFH KLSLLADEVD VLSRMLRQQR
710 720 730 740 750
SGPLEACYGE LGQSRMYFNA SGPHHTDTSG TPEFLSSSFP FSPVGNLCRR
760 770
SILGTPLSKF LSGAKIWLST ETLANED
Length:777
Mass (Da):88,273
Last modified:November 25, 2008 - v3
Checksum:iB2160728E16E0A98
GO
Isoform 2 (identifier: Q9NXD2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-82: Missing.
     517-533: EFAISKNIQLGDEKGLK → VSRIKSCTKQDYFPSRV
     534-777: Missing.

Show »
Length:451
Mass (Da):51,620
Checksum:iDFA1407A1F7302F0
GO
Isoform 3 (identifier: Q9NXD2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-218: VCLAIAHYSQ...GAGGGSSQKT → QTKLMEFPQE...GEFVLLTRVT
     219-777: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:218
Mass (Da):25,184
Checksum:i31C6F2EEFAB20EEA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti342V → I in AL832603 (PubMed:17974005).Curated1
Sequence conflicti710E → G in AL832603 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047539648R → H.Corresponds to variant rs6493352dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0357741 – 82Missing in isoform 2. 1 PublicationAdd BLAST82
Alternative sequenceiVSP_024465159 – 218VCLAI…SSQKT → QTKLMEFPQEMEEEEEEEVM ELVVAAARKLHSLKLTRIGT EKSRGQVLPGGEFVLLTRVT in isoform 3. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_024466219 – 777Missing in isoform 3. 1 PublicationAdd BLAST559
Alternative sequenceiVSP_024467517 – 533EFAIS…EKGLK → VSRIKSCTKQDYFPSRV in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_024468534 – 777Missing in isoform 2. 1 PublicationAdd BLAST244

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000320 mRNA. Translation: BAA91083.1.
AL832603 mRNA. No translation available.
AC090829 Genomic DNA. No translation available.
BC063296 mRNA. No translation available.
CCDSiCCDS45204.1. [Q9NXD2-1]
RefSeqiNP_060232.2. NM_017762.2. [Q9NXD2-1]
UniGeneiHs.30141.

Genome annotation databases

EnsembliENST00000435680; ENSP00000402537; ENSG00000166912. [Q9NXD2-1]
ENST00000563714; ENSP00000457390; ENSG00000166912. [Q9NXD2-2]
ENST00000568604; ENSP00000457903; ENSG00000166912. [Q9NXD2-3]
ENST00000621195; ENSP00000484437; ENSG00000277086. [Q9NXD2-1]
GeneIDi54893.
KEGGihsa:54893.
UCSCiuc001zfj.3. human. [Q9NXD2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000320 mRNA. Translation: BAA91083.1.
AL832603 mRNA. No translation available.
AC090829 Genomic DNA. No translation available.
BC063296 mRNA. No translation available.
CCDSiCCDS45204.1. [Q9NXD2-1]
RefSeqiNP_060232.2. NM_017762.2. [Q9NXD2-1]
UniGeneiHs.30141.

3D structure databases

ProteinModelPortaliQ9NXD2.
SMRiQ9NXD2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120240. 4 interactors.
IntActiQ9NXD2. 5 interactors.
MINTiMINT-1200677.
STRINGi9606.ENSP00000402537.

PTM databases

DEPODiQ9NXD2.
iPTMnetiQ9NXD2.
PhosphoSitePlusiQ9NXD2.

Polymorphism and mutation databases

BioMutaiMTMR10.
DMDMi215274131.

Proteomic databases

EPDiQ9NXD2.
PaxDbiQ9NXD2.
PeptideAtlasiQ9NXD2.
PRIDEiQ9NXD2.

Protocols and materials databases

DNASUi54893.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000435680; ENSP00000402537; ENSG00000166912. [Q9NXD2-1]
ENST00000563714; ENSP00000457390; ENSG00000166912. [Q9NXD2-2]
ENST00000568604; ENSP00000457903; ENSG00000166912. [Q9NXD2-3]
ENST00000621195; ENSP00000484437; ENSG00000277086. [Q9NXD2-1]
GeneIDi54893.
KEGGihsa:54893.
UCSCiuc001zfj.3. human. [Q9NXD2-1]

Organism-specific databases

CTDi54893.
GeneCardsiMTMR10.
H-InvDBHIX0012069.
HGNCiHGNC:25999. MTMR10.
HPAiHPA006081.
neXtProtiNX_Q9NXD2.
OpenTargetsiENSG00000166912.
ENSG00000277086.
PharmGKBiPA128394676.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00860000133763.
HOGENOMiHOG000113684.
HOVERGENiHBG108154.
InParanoidiQ9NXD2.
KOiK18085.
OMAiGFITAFH.
OrthoDBiEOG091G0DYN.
PhylomeDBiQ9NXD2.
TreeFamiTF315197.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166912-MONOMER.

Miscellaneous databases

ChiTaRSiMTMR10. human.
GenomeRNAii54893.
PROiQ9NXD2.

Gene expression databases

BgeeiENSG00000166912.
CleanExiHS_MTMR10.
ExpressionAtlasiQ9NXD2. baseline and differential.
GenevisibleiQ9NXD2. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR030573. MTMR10.
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. 2 hits.
PTHR10807:SF39. PTHR10807:SF39. 2 hits.
PfamiPF12578. 3-PAP. 1 hit.
PF06602. Myotub-related. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 2 hits.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTMRA_HUMAN
AccessioniPrimary (citable) accession number: Q9NXD2
Secondary accession number(s): Q6P4Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 106 of the entry and version 3 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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.