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Protein

Myotubularin-related protein 9

Gene

MTMR9

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

Functioni

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

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104643-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 9
Gene namesi
Name:MTMR9
Synonyms:C8orf9, MTMR8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:14596. MTMR9.

Subcellular locationi

  • Cytoplasm 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi66036.
OpenTargetsiENSG00000104643.
PharmGKBiPA37904.

Polymorphism and mutation databases

BioMutaiMTMR9.
DMDMi33112393.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949431 – 549Myotubularin-related protein 9Add BLAST549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei548PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96QG7.
MaxQBiQ96QG7.
PaxDbiQ96QG7.
PeptideAtlasiQ96QG7.
PRIDEiQ96QG7.

PTM databases

DEPODiQ96QG7.
iPTMnetiQ96QG7.
PhosphoSitePlusiQ96QG7.

Expressioni

Tissue specificityi

Expressed in many tissues.

Gene expression databases

BgeeiENSG00000104643.
CleanExiHS_MTMR8.
HS_MTMR9.
ExpressionAtlasiQ96QG7. baseline and differential.
GenevisibleiQ96QG7. HS.

Organism-specific databases

HPAiHPA070944.

Interactioni

Subunit structurei

Interacts with MTMR6, MTMR7 and MTMR8.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
EMILIN1Q9Y6C28EBI-744593,EBI-744586
EMILIN1Q9Y6C2-24EBI-744593,EBI-11748557
LNX1Q8TBB13EBI-744593,EBI-739832
MOSP005403EBI-744593,EBI-1757866
MTMR6Q9Y2178EBI-744593,EBI-766064
MTMR7Q9Y2169EBI-744593,EBI-10293003
NMIQ132875EBI-744593,EBI-372942
NMIQ8WTW23EBI-744593,EBI-10174268
VAC14Q08AM63EBI-744593,EBI-2107455

Protein-protein interaction databases

BioGridi122455. 20 interactors.
DIPiDIP-54283N.
IntActiQ96QG7. 17 interactors.
MINTiMINT-6942912.
STRINGi9606.ENSP00000221086.

Structurei

3D structure databases

ProteinModelPortaliQ96QG7.
SMRiQ96QG7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini123 – 498Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

Sequence similaritiesi

Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210599.
HOVERGENiHBG105875.
InParanoidiQ96QG7.
KOiK18084.
OMAiSCVVAQC.
OrthoDBiEOG091G04A6.
PhylomeDBiQ96QG7.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96QG7-1) [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
MEFAELIKTP RVDNVVLHRP FYPAVEGTLC LTGHHLILSS RQDNTEELWL
60 70 80 90 100
LHSNIDAIDK RFVGSLGTII IKCKDFRIIQ LDIPGMEECL NIASSIEALS
110 120 130 140 150
TLDSITLMYP FFYRPMFEVI EDGWHSFLPE QEFELYSSAT SEWRLSYVNK
160 170 180 190 200
EFAVCPSYPP IVTVPKSIDD EALRKVATFR HGGRFPVLSY YHKKNGMVIM
210 220 230 240 250
RSGQPLTGTN GRRCKEDEKL INATLRAGKR GYIIDTRSLN VAQQTRAKGG
260 270 280 290 300
GFEQEAHYPQ WRRIHKSIER YHILQESLIK LVEACNDQTH NMDRWLSKLE
310 320 330 340 350
ASNWLTHIKE ILTTACLAAQ CIDREGASIL IHGTEGTDST LQVTSLAQII
360 370 380 390 400
LEPRSRTIRG FEALIEREWL QAGHPFQQRC AQSAYCNTKQ KWEAPVFLLF
410 420 430 440 450
LDCVWQILRQ FPCSFEFNEN FLIMLFEHAY ASQFGTFLGN NESERCKLKL
460 470 480 490 500
QQKTMSLWSW VNQPSELSKF TNPLFEANNL VIWPSVAPQS LPLWEGIFLR
510 520 530 540
WNRSSKYLDE AYEEMVNIIE YNKELQAKVN ILRRQLAELE TEDGMQESP
Length:549
Mass (Da):63,462
Last modified:December 1, 2001 - v1
Checksum:i910F7D2907F9707E
GO
Isoform 2 (identifier: Q96QG7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: Missing.

Note: No experimental confirmation available.
Show »
Length:464
Mass (Da):53,796
Checksum:i8F537560CE0C03E3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti194K → R in BAA91170 (PubMed:14702039).Curated1
Sequence conflicti382Q → L in AAH22003 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0562091 – 85Missing in isoform 2. 1 PublicationAdd BLAST85

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ297823 mRNA. Translation: CAC51114.1.
AJ297824 Genomic DNA. Translation: CAC51115.1.
AK000444 mRNA. Translation: BAA91170.1.
AK294463 mRNA. Translation: BAH11777.1.
AF131216 Genomic DNA. No translation available.
BC022003 mRNA. Translation: AAH22003.1.
BC034990 mRNA. Translation: AAH34990.1.
BC093788 mRNA. Translation: AAH93788.1.
BC101623 mRNA. Translation: AAI01624.1.
CCDSiCCDS5979.1. [Q96QG7-1]
RefSeqiNP_056273.2. NM_015458.3. [Q96QG7-1]
UniGeneiHs.591395.

Genome annotation databases

EnsembliENST00000221086; ENSP00000221086; ENSG00000104643. [Q96QG7-1]
ENST00000526292; ENSP00000433239; ENSG00000104643. [Q96QG7-2]
GeneIDi66036.
KEGGihsa:66036.
UCSCiuc003wtm.4. human. [Q96QG7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ297823 mRNA. Translation: CAC51114.1.
AJ297824 Genomic DNA. Translation: CAC51115.1.
AK000444 mRNA. Translation: BAA91170.1.
AK294463 mRNA. Translation: BAH11777.1.
AF131216 Genomic DNA. No translation available.
BC022003 mRNA. Translation: AAH22003.1.
BC034990 mRNA. Translation: AAH34990.1.
BC093788 mRNA. Translation: AAH93788.1.
BC101623 mRNA. Translation: AAI01624.1.
CCDSiCCDS5979.1. [Q96QG7-1]
RefSeqiNP_056273.2. NM_015458.3. [Q96QG7-1]
UniGeneiHs.591395.

3D structure databases

ProteinModelPortaliQ96QG7.
SMRiQ96QG7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122455. 20 interactors.
DIPiDIP-54283N.
IntActiQ96QG7. 17 interactors.
MINTiMINT-6942912.
STRINGi9606.ENSP00000221086.

PTM databases

DEPODiQ96QG7.
iPTMnetiQ96QG7.
PhosphoSitePlusiQ96QG7.

Polymorphism and mutation databases

BioMutaiMTMR9.
DMDMi33112393.

Proteomic databases

EPDiQ96QG7.
MaxQBiQ96QG7.
PaxDbiQ96QG7.
PeptideAtlasiQ96QG7.
PRIDEiQ96QG7.

Protocols and materials databases

DNASUi66036.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221086; ENSP00000221086; ENSG00000104643. [Q96QG7-1]
ENST00000526292; ENSP00000433239; ENSG00000104643. [Q96QG7-2]
GeneIDi66036.
KEGGihsa:66036.
UCSCiuc003wtm.4. human. [Q96QG7-1]

Organism-specific databases

CTDi66036.
DisGeNETi66036.
GeneCardsiMTMR9.
H-InvDBHIX0025669.
HIX0034664.
HGNCiHGNC:14596. MTMR9.
HPAiHPA070944.
MIMi606260. gene.
neXtProtiNX_Q96QG7.
OpenTargetsiENSG00000104643.
PharmGKBiPA37904.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210599.
HOVERGENiHBG105875.
InParanoidiQ96QG7.
KOiK18084.
OMAiSCVVAQC.
OrthoDBiEOG091G04A6.
PhylomeDBiQ96QG7.
TreeFamiTF315197.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104643-MONOMER.

Miscellaneous databases

ChiTaRSiMTMR9. human.
GeneWikiiMTMR9.
GenomeRNAii66036.
PROiQ96QG7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104643.
CleanExiHS_MTMR8.
HS_MTMR9.
ExpressionAtlasiQ96QG7. baseline and differential.
GenevisibleiQ96QG7. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTMR9_HUMAN
AccessioniPrimary (citable) accession number: Q96QG7
Secondary accession number(s): B7Z291
, Q52LU3, Q8WW11, Q96QG6, Q9NX50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 126 of the entry and version 1 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 8
    Human chromosome 8: 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.