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Protein

Myotubularin-related protein 7

Gene

MTMR7

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

Functioni

Phosphatase that acts on lipids with a phosphoinositol headgroup.Curated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei338 – 3381Phosphocysteine intermediatePROSITE-ProRule annotation
Binding sitei384 – 3841SubstrateBy similarity

GO - Molecular functioni

  • phosphatidylinositol phosphate phosphatase activity Source: InterPro
  • protein tyrosine phosphatase activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

ReactomeiR-HSA-1660517. Synthesis of PIPs at the late endosome membrane.

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

HGNCiHGNC:7454. MTMR7.

Subcellular locationi

  • Cytoplasm 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31257.

Polymorphism and mutation databases

BioMutaiMTMR7.
DMDMi296439297.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 660660Myotubularin-related protein 7PRO_0000094940Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei578 – 5781PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y216.
PRIDEiQ9Y216.

PTM databases

DEPODiQ9Y216.
iPTMnetiQ9Y216.
PhosphoSiteiQ9Y216.

Expressioni

Tissue specificityi

Expressed specifically in brain.

Gene expression databases

BgeeiQ9Y216.
CleanExiHS_MTMR7.
ExpressionAtlasiQ9Y216. baseline and differential.
GenevisibleiQ9Y216. HS.

Organism-specific databases

HPAiHPA004915.

Interactioni

Subunit structurei

Interacts with MTMR6, MTMR8 and MTMR9.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MTMR9Q96QG75EBI-10293003,EBI-744593

Protein-protein interaction databases

BioGridi114559. 9 interactions.
IntActiQ9Y216. 1 interaction.
STRINGi9606.ENSP00000180173.

Structurei

3D structure databases

ProteinModelPortaliQ9Y216.
SMRiQ9Y216. Positions 23-507.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini126 – 504379Myotubularin phosphatasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni250 – 2534Substrate bindingBy similarity
Regioni275 – 2762Substrate bindingBy similarity
Regioni338 – 3447Substrate bindingBy similarity

Sequence similaritiesi

Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210599.
HOVERGENiHBG000220.
InParanoidiQ9Y216.
KOiK18083.
OMAiCFSFNPM.
OrthoDBiEOG71RXJC.
PhylomeDBiQ9Y216.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR030572. MTMR7.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
IPR003595. Tyr_Pase_cat.
IPR000387. TYR_PHOSPHATASE_dom.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF35. PTHR10807:SF35. 1 hit.
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00404. PTPc_motif. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
PS50056. TYR_PHOSPHATASE_2. 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: 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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti241 – 2411T → A in CAH18096 (PubMed:17974005).Curated
Sequence conflicti470 – 4701Y → N in AAC77820 (PubMed:15489334).Curated
Sequence conflicti473 – 4731P → L in AAC77820 (PubMed:15489334).Curated
Sequence conflicti486 – 4861L → F in AAC77820 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441P → A.3 Publications
Corresponds to variant rs7388581 [ dbSNP | Ensembl ].
VAR_059779
Natural varianti559 – 5591Q → H.1 Publication
Corresponds to variant rs3764796 [ dbSNP | Ensembl ].
VAR_057144

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei541 – 57737RLEKI…NSIAN → VRHTCFVNLFSVLIS in isoform 2. 1 PublicationVSP_017000Add
BLAST
Alternative sequencei578 – 66083Missing in isoform 2. 1 PublicationVSP_017001Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9Y216.
SMRiQ9Y216. Positions 23-507.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114559. 9 interactions.
IntActiQ9Y216. 1 interaction.
STRINGi9606.ENSP00000180173.

PTM databases

DEPODiQ9Y216.
iPTMnetiQ9Y216.
PhosphoSiteiQ9Y216.

Polymorphism and mutation databases

BioMutaiMTMR7.
DMDMi296439297.

Proteomic databases

PaxDbiQ9Y216.
PRIDEiQ9Y216.

Protocols and materials databases

DNASUi9108.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9108.
GeneCardsiMTMR7.
H-InvDBHIX0034249.
HGNCiHGNC:7454. MTMR7.
HPAiHPA004915.
MIMi603562. gene.
neXtProtiNX_Q9Y216.
PharmGKBiPA31257.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210599.
HOVERGENiHBG000220.
InParanoidiQ9Y216.
KOiK18083.
OMAiCFSFNPM.
OrthoDBiEOG71RXJC.
PhylomeDBiQ9Y216.
TreeFamiTF315197.

Enzyme and pathway databases

ReactomeiR-HSA-1660517. Synthesis of PIPs at the late endosome membrane.

Miscellaneous databases

ChiTaRSiMTMR7. human.
GenomeRNAii9108.
NextBioi34141.
PROiQ9Y216.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y216.
CleanExiHS_MTMR7.
ExpressionAtlasiQ9Y216. baseline and differential.
GenevisibleiQ9Y216. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR030572. MTMR7.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
IPR003595. Tyr_Pase_cat.
IPR000387. TYR_PHOSPHATASE_dom.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF35. PTHR10807:SF35. 1 hit.
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00404. PTPc_motif. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
PS50056. TYR_PHOSPHATASE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ALA-44 AND HIS-559.
    Tissue: Amygdala.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-44.
    Tissue: Amygdala.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-44.
  5. "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human."
    Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L.
    Hum. Mol. Genet. 7:1703-1712(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 165-577 (ISOFORM 2).
  6. "Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions."
    Lorenzo O., Urbe S., Clague M.J.
    J. Cell Sci. 119:2953-2959(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MTMR6; MTMR8 AND MTMR9.

Entry informationi

Entry nameiMTMR7_HUMAN
AccessioniPrimary (citable) accession number: Q9Y216
Secondary accession number(s): A1L4K9, B4DG87, Q68DX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 135 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 8
    Human chromosome 8: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.