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Q96EF0

- MTMR8_HUMAN

UniProt

Q96EF0 - MTMR8_HUMAN

Protein

Myotubularin-related protein 8

Gene

MTMR8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    1. protein tyrosine phosphatase activity Source: InterPro

    Keywords - Molecular functioni

    Hydrolase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myotubularin-related protein 8 (EC:3.1.3.-)
    Gene namesi
    Name:MTMR8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:16825. MTMR8.

    Subcellular locationi

    Nucleus envelope 1 Publication

    GO - Cellular componenti

    1. nuclear envelope Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134942633.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 704704Myotubularin-related protein 8PRO_0000330034Add
    BLAST

    Proteomic databases

    PaxDbiQ96EF0.
    PRIDEiQ96EF0.

    PTM databases

    PhosphoSiteiQ96EF0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96EF0.
    BgeeiQ96EF0.
    CleanExiHS_MTMR8.
    GenevestigatoriQ96EF0.

    Interactioni

    Subunit structurei

    Interacts with MTMR9.1 Publication

    Protein-protein interaction databases

    BioGridi120753. 2 interactions.
    DIPiDIP-60046N.
    IntActiQ96EF0. 1 interaction.
    MINTiMINT-1484634.
    STRINGi9606.ENSP00000363985.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96EF0.
    SMRiQ96EF0. Positions 4-505.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini126 – 500375Myotubularin phosphatasePROSITE-ProRule annotationAdd
    BLAST

    Region

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

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili515 – 54127Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi338 – 3447Active site

    Sequence similaritiesi

    Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG322789.
    HOGENOMiHOG000210599.
    HOVERGENiHBG000220.
    InParanoidiQ96EF0.
    KOiK18083.
    OMAiFTMYGVL.
    OrthoDBiEOG71RXJC.
    PhylomeDBiQ96EF0.
    TreeFamiTF315197.

    Family and domain databases

    InterProiIPR010569. Myotubularin-like_Pase_dom.
    IPR029021. Prot-tyrosine_phosphatase-like.
    IPR016130. Tyr_Pase_AS.
    [Graphical view]
    PfamiPF06602. Myotub-related. 1 hit.
    [Graphical view]
    SUPFAMiSSF52799. SSF52799. 1 hit.
    PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
    PS00383. TYR_PHOSPHATASE_1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96EF0-1) [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

    MDHITVPKVE NVKLVDRYVS KKPANGILYL TATHLIYVEA SGAARKETWI    50
    ALHHIATVEK LPITSLGCPL TLRCKNFRVA HFVLDSDLVC HEVYISLLKL 100
    SQPALPEDLY AFSYNPKSSK EMRESGWKLI DPISDFGRMG IPNRNWTITD 150
    ANRNYEICST YPPEIVVPKS VTLGTVVGSS KFRSKERVPV LSYLYKENNA 200
    AICRCSQPLS GFYTRCVDDE LLLEAISQTN PGSQFMYVVD TRPKLNAMAN 250
    RAAGKGYENE DNYANIRFRF MGIENIHVMR SSLQKLLEVC ELKTPTMSEF 300
    LSGLESSGWL RHIKAIMDAG IFITKAVKVE KASVLVHCSD GWDRTAQVCS 350
    VASILLDPFY RTFKGLMILI EKEWISMGHK FSQRCGHLDG DSKEVSPIFT 400
    QFLDCIWQLM EQFPCAFEFN ENFLLEIHDH VFSCQFGNFL GNCQKDREDL 450
    RVYEKTHSVW PFLVQRKPDF RNPLYKGFTM YGVLNPSTVP YNIQFWCGMY 500
    NRFDKGLQPK QSMLESLLEI KKQRAMLETD VHELEKKLKV RDEPPEEICT 550
    CSQLGNILSQ HLGSPLTNPL GFMGINGDLN TLMENGTLSR EGGLRAQMDQ 600
    VKSQGADLHH NCCEIVGSLR AINISGDVGI SEAMGISGDM CTFEATGFSK 650
    DLGICGAMDI SEATGISGNL GISEARGFSG DMGILGDTGI SKASTKEADY 700
    SKHQ 704
    Length:704
    Mass (Da):78,919
    Last modified:December 1, 2001 - v1
    Checksum:i515BE817C9AEA961
    GO
    Isoform 2 (identifier: Q96EF0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         153-265: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:591
    Mass (Da):66,312
    Checksum:iD7E38C5FDAC096E9
    GO

    Sequence cautioni

    The sequence BAA90964.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301I → S in BAA90964. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti127 – 1271W → R in a breast cancer sample; somatic mutation. 1 Publication
    VAR_042688
    Natural varianti454 – 4541E → K in a breast cancer sample; somatic mutation. 1 Publication
    VAR_042689

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei153 – 265113Missing in isoform 2. 1 PublicationVSP_033007Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL356317, AL034408 Genomic DNA. Translation: CAI39933.1.
    AL356317, AL034408 Genomic DNA. Translation: CAI39934.1.
    AL034408 Genomic DNA. Translation: CAI43024.1.
    AL034408 Genomic DNA. Translation: CAI43025.1.
    CH471132 Genomic DNA. Translation: EAX05411.1.
    BC012399 mRNA. Translation: AAH12399.1.
    AK000133 mRNA. Translation: BAA90964.1. Different initiation.
    CCDSiCCDS14379.1. [Q96EF0-1]
    RefSeqiNP_060147.2. NM_017677.3. [Q96EF0-1]
    UniGeneiHs.442892.

    Genome annotation databases

    EnsembliENST00000374852; ENSP00000363985; ENSG00000102043. [Q96EF0-1]
    GeneIDi55613.
    KEGGihsa:55613.
    UCSCiuc004dvs.3. human. [Q96EF0-1]

    Polymorphism databases

    DMDMi74751838.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL356317 , AL034408 Genomic DNA. Translation: CAI39933.1 .
    AL356317 , AL034408 Genomic DNA. Translation: CAI39934.1 .
    AL034408 Genomic DNA. Translation: CAI43024.1 .
    AL034408 Genomic DNA. Translation: CAI43025.1 .
    CH471132 Genomic DNA. Translation: EAX05411.1 .
    BC012399 mRNA. Translation: AAH12399.1 .
    AK000133 mRNA. Translation: BAA90964.1 . Different initiation.
    CCDSi CCDS14379.1. [Q96EF0-1 ]
    RefSeqi NP_060147.2. NM_017677.3. [Q96EF0-1 ]
    UniGenei Hs.442892.

    3D structure databases

    ProteinModelPortali Q96EF0.
    SMRi Q96EF0. Positions 4-505.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120753. 2 interactions.
    DIPi DIP-60046N.
    IntActi Q96EF0. 1 interaction.
    MINTi MINT-1484634.
    STRINGi 9606.ENSP00000363985.

    PTM databases

    PhosphoSitei Q96EF0.

    Polymorphism databases

    DMDMi 74751838.

    Proteomic databases

    PaxDbi Q96EF0.
    PRIDEi Q96EF0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374852 ; ENSP00000363985 ; ENSG00000102043 . [Q96EF0-1 ]
    GeneIDi 55613.
    KEGGi hsa:55613.
    UCSCi uc004dvs.3. human. [Q96EF0-1 ]

    Organism-specific databases

    CTDi 55613.
    GeneCardsi GC0XM063445.
    HGNCi HGNC:16825. MTMR8.
    neXtProti NX_Q96EF0.
    PharmGKBi PA134942633.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG322789.
    HOGENOMi HOG000210599.
    HOVERGENi HBG000220.
    InParanoidi Q96EF0.
    KOi K18083.
    OMAi FTMYGVL.
    OrthoDBi EOG71RXJC.
    PhylomeDBi Q96EF0.
    TreeFami TF315197.

    Miscellaneous databases

    GenomeRNAii 55613.
    NextBioi 60188.
    PROi Q96EF0.

    Gene expression databases

    ArrayExpressi Q96EF0.
    Bgeei Q96EF0.
    CleanExi HS_MTMR8.
    Genevestigatori Q96EF0.

    Family and domain databases

    InterProi IPR010569. Myotubularin-like_Pase_dom.
    IPR029021. Prot-tyrosine_phosphatase-like.
    IPR016130. Tyr_Pase_AS.
    [Graphical view ]
    Pfami PF06602. Myotub-related. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52799. SSF52799. 1 hit.
    PROSITEi PS51339. PPASE_MYOTUBULARIN. 1 hit.
    PS00383. TYR_PHOSPHATASE_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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).
      Tissue: Ovary.
    4. "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] OF 85-704 (ISOFORM 2).
      Tissue: Colon.
    5. "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 MTMR9.
    6. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-127 AND LYS-454.

    Entry informationi

    Entry nameiMTMR8_HUMAN
    AccessioniPrimary (citable) accession number: Q96EF0
    Secondary accession number(s): Q5JT99, Q9NXP6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 29, 2008
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 108 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 X
      Human chromosome X: 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

    External Data

    Dasty 3