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Protein

Myotubularin-related protein 9

Gene

MTMR9

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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol

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

EuPathDBiHostDB:ENSG00000104643.9
HGNCiHGNC:14596 MTMR9
MIMi606260 gene
neXtProtiNX_Q96QG7

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

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
ProteomicsDBi77877

PTM databases

DEPODiQ96QG7
iPTMnetiQ96QG7
PhosphoSitePlusiQ96QG7

Expressioni

Tissue specificityi

Expressed in many tissues.

Gene expression databases

BgeeiENSG00000104643 Expressed in 238 organ(s), highest expression level in endothelial cell
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122455, 33 interactors
DIPiDIP-54283N
IntActiQ96QG7, 22 interactors
MINTiQ96QG7
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

Phylogenomic databases

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

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
PANTHERiPTHR10807 PTHR10807, 1 hit
PfamiView protein in Pfam
PF06602 Myotub-related, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PR67E9PR67_HUMAN
Myotubularin-related protein 9
MTMR9
101Annotation score:

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

Similar proteinsi

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, 33 interactors
DIPiDIP-54283N
IntActiQ96QG7, 22 interactors
MINTiQ96QG7
STRINGi9606.ENSP00000221086

PTM databases

DEPODiQ96QG7
iPTMnetiQ96QG7
PhosphoSitePlusiQ96QG7

Polymorphism and mutation databases

BioMutaiMTMR9
DMDMi33112393

Proteomic databases

EPDiQ96QG7
MaxQBiQ96QG7
PaxDbiQ96QG7
PeptideAtlasiQ96QG7
PRIDEiQ96QG7
ProteomicsDBi77877

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
EuPathDBiHostDB:ENSG00000104643.9
GeneCardsiMTMR9
H-InvDBiHIX0025669
HIX0034664
HGNCiHGNC:14596 MTMR9
HPAiHPA070944
MIMi606260 gene
neXtProtiNX_Q96QG7
OpenTargetsiENSG00000104643
PharmGKBiPA37904
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol

Miscellaneous databases

ChiTaRSiMTMR9 human
GeneWikiiMTMR9
GenomeRNAii66036
PROiPR:Q96QG7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104643 Expressed in 238 organ(s), highest expression level in endothelial cell
CleanExiHS_MTMR8
HS_MTMR9
ExpressionAtlasiQ96QG7 baseline and differential
GenevisibleiQ96QG7 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
PANTHERiPTHR10807 PTHR10807, 1 hit
PfamiView protein in Pfam
PF06602 Myotub-related, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMTMR9_HUMAN
AccessioniPrimary (citable) accession number: Q96QG7
Secondary accession number(s): B7Z291
, Q52LU3, Q8WW11, Q96QG6, Q9NX50
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 142 of the entry and version 1 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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