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Protein

Myotubularin-related protein 7

Gene

MTMR7

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

Functioni

Phosphatase that acts on lipids with a phosphoinositol headgroup.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei338Phosphocysteine intermediatePROSITE-ProRule annotation1
Binding sitei384SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

ReactomeiR-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 7 (EC:3.1.3.-)
Gene namesi
Name:MTMR7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000003987.13
HGNCiHGNC:7454 MTMR7
MIMi603562 gene
neXtProtiNX_Q9Y216

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

DisGeNETi9108
OpenTargetsiENSG00000003987
PharmGKBiPA31257

Polymorphism and mutation databases

BioMutaiMTMR7
DMDMi296439297

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949401 – 660Myotubularin-related protein 7Add BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei578PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y216
PaxDbiQ9Y216
PeptideAtlasiQ9Y216
PRIDEiQ9Y216

PTM databases

DEPODiQ9Y216
iPTMnetiQ9Y216
PhosphoSitePlusiQ9Y216

Expressioni

Tissue specificityi

Expressed specifically in brain.

Gene expression databases

BgeeiENSG00000003987
CleanExiHS_MTMR7
ExpressionAtlasiQ9Y216 baseline and differential
GenevisibleiQ9Y216 HS

Interactioni

Subunit structurei

Interacts with MTMR6, MTMR8 and MTMR9.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MTMR9Q96QG79EBI-10293003,EBI-744593

Protein-protein interaction databases

BioGridi114559, 41 interactors
IntActiQ9Y216, 2 interactors
STRINGi9606.ENSP00000180173

Structurei

3D structure databases

ProteinModelPortaliQ9Y216
SMRiQ9Y216
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini126 – 504Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST379

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni250 – 253Substrate bindingBy similarity4
Regioni275 – 276Substrate bindingBy similarity2
Regioni338 – 344Substrate bindingBy similarity7

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00760000118832
HOGENOMiHOG000210599
HOVERGENiHBG000220
InParanoidiQ9Y216
KOiK18083
OMAiRCKNFQI
OrthoDBiEOG091G02LA
PhylomeDBiQ9Y216
TreeFamiTF315197

Family and domain databases

CDDicd13344 PH-GRAM_MTMR7, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030572 MTMR7
IPR036003 MTMR7_PH-GRAM
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
IPR000387 TYR_PHOSPHATASE_dom
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF35 PTHR10807:SF35, 1 hit
PfamiView protein in Pfam
PF06602 Myotub-related, 1 hit
SMARTiView protein in SMART
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
PS00383 TYR_PHOSPHATASE_1, 1 hit
PS50056 TYR_PHOSPHATASE_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9Y216-1) [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
MEHIRTPKVE NVRLVDRVSP KKAALGTLYL TATHVIFVEN SPDPRKETWI
60 70 80 90 100
LHSQISTIEK QATTATGCPL LIRCKNFQII QLIIPQERDC HDVYISLIRL
110 120 130 140 150
ARPVKYEELY CFSFNPMLDK EEREQGWVLI DLSEEYTRMG LPNHYWQLSD
160 170 180 190 200
VNRDYRVCDS YPTELYVPKS ATAHIIVGSS KFRSRRRFPV LSYYYKDNHA
210 220 230 240 250
SICRSSQPLS GFSARCLEDE QMLQAIRKAN PGSDFVYVVD TRPKLNAMAN
260 270 280 290 300
RAAGKGYENE DNYSNIKFQF IGIENIHVMR NSLQKMLEVC ELKSPSMSDF
310 320 330 340 350
LWGLENSGWL RHIKAIMDAG IFIAKAVSEE GASVLVHCSD GWDRTAQVCS
360 370 380 390 400
VASLLLDPHY RTLKGFMVLI EKDWISFGHK FNHRYGNLDG DPKEISPVID
410 420 430 440 450
QFIECVWQLM EQFPCAFEFN ERFLIHIQHH IYSCQFGNFL CNSQKERREL
460 470 480 490 500
KIQERTYSLW AHLWKNRADY LNPLFRADHS QTQGTLHLPT TPCNFMYKFW
510 520 530 540 550
SGMYNRFEKG MQPRQSVTDY LMAVKEETQQ LEEELEALEE RLEKIQKVQL
560 570 580 590 600
NCTKVKSKQS EPSKHSGFST SDNSIANTPQ DYSGNMKSFP SRSPSQGDED
610 620 630 640 650
SALILTQDNL KSSDPDLSAN SDQESGVEDL SCRSPSGGEH APSEDSGKDR
660
DSDEAVFLTA
Length:660
Mass (Da):75,833
Last modified:May 18, 2010 - v3
Checksum:i05374B19BB500580
GO
Isoform 2 (identifier: Q9Y216-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-577: RLEKIQKVQLNCTKVKSKQSEPSKHSGFSTSDNSIAN → VRHTCFVNLFSVLIS
     578-660: Missing.

Show »
Length:555
Mass (Da):64,702
Checksum:iBA62261413CA0483
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti241T → A in CAH18096 (PubMed:17974005).Curated1
Sequence conflicti470Y → N in AAC77820 (PubMed:15489334).Curated1
Sequence conflicti473P → L in AAC77820 (PubMed:15489334).Curated1
Sequence conflicti486L → F in AAC77820 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05977944P → A3 PublicationsCorresponds to variant dbSNP:rs7388581Ensembl.1
Natural variantiVAR_057144559Q → H1 PublicationCorresponds to variant dbSNP:rs3764796Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017000541 – 577RLEKI…NSIAN → VRHTCFVNLFSVLIS in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_017001578 – 660Missing in isoform 2. 1 PublicationAdd BLAST83

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294468 mRNA Translation: BAG57698.1
CR749240 mRNA Translation: CAH18096.1
AC124074 Genomic DNA No translation available.
BC130577 mRNA Translation: AAI30578.1
BC130579 mRNA Translation: AAI30580.1
AF073482 mRNA Translation: AAC77820.1
CCDSiCCDS34851.1 [Q9Y216-1]
RefSeqiNP_004677.3, NM_004686.4 [Q9Y216-1]
UniGeneiHs.625674

Genome annotation databases

EnsembliENST00000180173; ENSP00000180173; ENSG00000003987 [Q9Y216-1]
ENST00000521857; ENSP00000429733; ENSG00000003987 [Q9Y216-2]
GeneIDi9108
KEGGihsa:9108
UCSCiuc003wxm.4 human [Q9Y216-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMTMR7_HUMAN
AccessioniPrimary (citable) accession number: Q9Y216
Secondary accession number(s): A1L4K9, B4DG87, Q68DX4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 18, 2010
Last modified: March 28, 2018
This is version 151 of the entry and version 3 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
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Main funding by: National Institutes of Health