Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O95248

- MTMR5_HUMAN

UniProt

O95248 - MTMR5_HUMAN

Protein

Myotubularin-related protein 5

Gene

SBF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (11 Sep 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.2 Publications

    GO - Molecular functioni

    1. protein tyrosine/serine/threonine phosphatase activity Source: UniProtKB
    2. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. positive regulation of Rab GTPase activity Source: GOC
    3. protein dephosphorylation Source: UniProtKB
    4. spermatogenesis Source: Ensembl

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myotubularin-related protein 5
    Alternative name(s):
    SET-binding factor 1
    Short name:
    Sbf1
    Gene namesi
    Name:SBF1
    Synonyms:MTMR5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:10542. SBF1.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti417 – 4171M → V in CMT4B3. 1 Publication
    VAR_070046
    Natural varianti1564 – 15641T → A in CMT4B3. 1 Publication
    VAR_070047

    Keywords - Diseasei

    Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

    Organism-specific databases

    MIMi615284. phenotype.
    Orphaneti363981. Charcot-Marie-Tooth disease type 4B3.
    PharmGKBiPA34953.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18671867Myotubularin-related protein 5PRO_0000094938Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1137 – 11371Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO95248.
    PaxDbiO95248.
    PRIDEiO95248.

    PTM databases

    PhosphoSiteiO95248.

    Expressioni

    Gene expression databases

    ArrayExpressiO95248.
    BgeeiO95248.
    CleanExiHS_SBF1.
    GenevestigatoriO95248.

    Interactioni

    Subunit structurei

    Interacts with the SET domain of KMT2A/MLL1. Interacts with SUV39H1.2 Publications

    Protein-protein interaction databases

    BioGridi112212. 12 interactions.
    IntActiO95248. 5 interactions.
    MINTiMINT-7034529.
    STRINGi9606.ENSP00000375097.

    Structurei

    3D structure databases

    ProteinModelPortaliO95248.
    SMRiO95248. Positions 203-432, 1147-1251, 1318-1595, 1764-1865.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini18 – 8669UDENNAdd
    BLAST
    Domaini128 – 310183DENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini363 – 43270dDENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini880 – 96889GRAMAdd
    BLAST
    Domaini1120 – 1596477Myotubularin phosphatasePROSITE-ProRule annotationAdd
    BLAST
    Domaini1761 – 1865105PHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 dDENN domain.PROSITE-ProRule annotation
    Contains 1 DENN domain.PROSITE-ProRule annotation
    Contains 1 GRAM domain.Curated
    Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 1 uDENN domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG315534.
    HOVERGENiHBG052527.
    KOiK18061.
    OMAiSEWLIQI.
    OrthoDBiEOG747PKH.
    PhylomeDBiO95248.
    TreeFamiTF318583.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    InterProiIPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR004182. GRAM.
    IPR010569. Myotubularin-like_Pase_dom.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR029021. Prot-tyrosine_phosphatase-like.
    IPR022096. SBF2.
    IPR005113. uDENN_dom.
    [Graphical view]
    PfamiPF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF02893. GRAM. 1 hit.
    PF06602. Myotub-related. 1 hit.
    PF00169. PH. 1 hit.
    PF12335. SBF2. 1 hit.
    PF03456. uDENN. 1 hit.
    [Graphical view]
    SMARTiSM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00568. GRAM. 1 hit.
    SM00233. PH. 1 hit.
    SM00800. uDENN. 1 hit.
    [Graphical view]
    SUPFAMiSSF52799. SSF52799. 2 hits.
    PROSITEiPS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS51339. PPASE_MYOTUBULARIN. 1 hit.
    PS50946. UDENN. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95248-1) [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

    MARLADYFVL VAFGPHPRGS GEGQGQILQR FPEKDWEDNP FPQGIELFCQ     50
    PSGWQLCPER NPPTFFVAVL TDINSERHYC ACLTFWEPAE PSQETTRVED 100
    ATEREEEGDE GGQTHLSPTA PAPSAQLFAP KTLVLVSRLD HTEVFRNSLG 150
    LIYAIHVEGL NVCLENVIGN LLTCTVPLAG GSQRTISLGA GDRQVIQTPL 200
    ADSLPVSRCS VALLFRQLGI TNVLSLFCAA LTEHKVLFLS RSYQRLADAC 250
    RGLLALLFPL RYSFTYVPIL PAQLLEVLST PTPFIIGVNA AFQAETQELL 300
    DVIVADLDGG TVTIPECVHI PPLPEPLQSQ THSVLSMVLD PELELADLAF 350
    PPPTTSTSSL KMQDKELRAV FLRLFAQLLQ GYRWCLHVVR IHPEPVIRFH 400
    KAAFLGQRGL VEDDFLMKVL EGMAFAGFVS ERGVPYRPTD LFDELVAHEV 450
    ARMRADENHP QRVLRHVQEL AEQLYKNENP YPAVAMHKVQ RPGESSHLRR 500
    VPRPFPRLDE GTVQWIVDQA AAKMQGAPPA VKAERRTTVP SGPPMTAILE 550
    RCSGLHVNSA RRLEVVRNCI SYVFEGKMLE AKKLLPAVLR ALKGRAARRC 600
    LAQELHLHVQ QNRAVLDHQQ FDFVVRMMNC CLQDCTSLDE HGIAAALLPL 650
    VTAFCRKLSP GVTQFAYSCV QEHVVWSTPQ FWEAMFYGDV QTHIRALYLE 700
    PTEDLAPAQE VGEAPSQEDE RSALDVASEQ RRLWPTLSRE KQQELVQKEE 750
    STVFSQAIHY ANRMSYLLLP LDSSKSRLLR ERAGLGDLES ASNSLVTNSM 800
    AGSVAESYDT ESGFEDAETC DVAGAVVRFI NRFVDKVCTE SGVTSDHLKG 850
    LHVMVPDIVQ MHIETLEAVQ RESRRLPPIQ KPKLLRPRLL PGEECVLDGL 900
    RVYLLPDGRE EGAGGSAGGP ALLPAEGAVF LTTYRVIFTG MPTDPLVGEQ 950
    VVVRSFPVAA LTKEKRISVQ TPVDQLLQDG LQLRSCTFQL LKMAFDEEVG 1000
    SDSAELFRKQ LHKLRYPPDI RATFAFTLGS AHTPGRPPRV TKDKGPSLRT 1050
    LSRNLVKNAK KTIGRQHVTR KKYNPPSWEH RGQPPPEDQE DEISVSEELE 1100
    PSTLTPSSAL KPSDRMTMSS LVERACCRDY QRLGLGTLSS SLSRAKSEPF 1150
    RISPVNRMYA ICRSYPGLLI VPQSVQDNAL QRVSRCYRQN RFPVVCWRSG 1200
    RSKAVLLRSG GLHGKGVVGL FKAQNAPSPG QSQADSSSLE QEKYLQAVVS 1250
    SMPRYADASG RNTLSGFSSA HMGSHGKWGS VRTSGRSSGL GTDVGSRLAG 1300
    RDALAPPQAN GGPPDPGFLR PQRAALYILG DKAQLKGVRS DPLQQWELVP 1350
    IEVFEARQVK ASFKKLLKAC VPGCPAAEPS PASFLRSLED SEWLIQIHKL 1400
    LQVSVLVVEL LDSGSSVLVG LEDGWDITTQ VVSLVQLLSD PFYRTLEGFR 1450
    LLVEKEWLSF GHRFSHRGAH TLAGQSSGFT PVFLQFLDCV HQVHLQFPME 1500
    FEFSQFYLKF LGYHHVSRRF RTFLLDSDYE RIELGLLYEE KGERRGQVPC 1550
    RSVWEYVDRL SKRTPVFHNY MYAPEDAEVL RPYSNVSNLK VWDFYTEETL 1600
    AEGPPYDWEL AQGPPEPPEE ERSDGGAPQS RRRVVWPCYD SCPRAQPDAI 1650
    SRLLEELQRL ETELGQPAER WKDTWDRVKA AQRLEGRPDG RGTPSSLLVS 1700
    TAPHHRRSLG VYLQEGPVGS TLSLSLDSDQ SSGSTTSGSR QAARRSTSTL 1750
    YSQFQTAESE NRSYEGTLYK KGAFMKPWKA RWFVLDKTKH QLRYYDHRVD 1800
    TECKGVIDLA EVEAVAPGTP TMGAPKTVDE KAFFDVKTTR RVYNFCAQDV 1850
    PSAQQWVDRI QSCLSDA 1867
    Length:1,867
    Mass (Da):208,315
    Last modified:September 11, 2007 - v3
    Checksum:iAAC0E04B27E5BE33
    GO
    Isoform 4 (identifier: O95248-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1275-1275: H → HVPSPRARVTTLSNPMAASASRRTAPR

    Note: No experimental confirmation available.

    Show »
    Length:1,893
    Mass (Da):211,048
    Checksum:i36865405984F1AFA
    GO

    Sequence cautioni

    The sequence AAC39675.1 differs from that shown. Reason: Frameshift at positions 1603, 1627, 1631 and 1864.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti596 – 5961A → V in AAC39675. (PubMed:9537414)Curated
    Sequence conflicti1172 – 11721P → R in AAC39675. (PubMed:9537414)Curated
    Sequence conflicti1376 – 13761A → P in AAC78842. (PubMed:9736772)Curated
    Sequence conflicti1556 – 15561Y → H in AAC78842. (PubMed:9736772)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti417 – 4171M → V in CMT4B3. 1 Publication
    VAR_070046
    Natural varianti1564 – 15641T → A in CMT4B3. 1 Publication
    VAR_070047

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1275 – 12751H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4. 1 PublicationVSP_015158

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL096767 Genomic DNA. Translation: CAO03462.1.
    CH471138 Genomic DNA. Translation: EAW73536.1.
    BC009268 mRNA. Translation: AAH09268.2.
    BC087612 mRNA. Translation: AAH87612.1.
    U93181 mRNA. Translation: AAC39675.1. Frameshift.
    AF072929 mRNA. Translation: AAC78842.1.
    CCDSiCCDS14091.2. [O95248-4]
    RefSeqiNP_002963.2. NM_002972.2. [O95248-4]
    XP_005261992.1. XM_005261935.1. [O95248-1]
    UniGeneiHs.589924.

    Genome annotation databases

    EnsembliENST00000380817; ENSP00000370196; ENSG00000100241. [O95248-4]
    ENST00000390679; ENSP00000375097; ENSG00000100241. [O95248-1]
    GeneIDi6305.
    KEGGihsa:6305.
    UCSCiuc003blh.3. human. [O95248-4]
    uc011arx.2. human. [O95248-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL096767 Genomic DNA. Translation: CAO03462.1 .
    CH471138 Genomic DNA. Translation: EAW73536.1 .
    BC009268 mRNA. Translation: AAH09268.2 .
    BC087612 mRNA. Translation: AAH87612.1 .
    U93181 mRNA. Translation: AAC39675.1 . Frameshift.
    AF072929 mRNA. Translation: AAC78842.1 .
    CCDSi CCDS14091.2. [O95248-4 ]
    RefSeqi NP_002963.2. NM_002972.2. [O95248-4 ]
    XP_005261992.1. XM_005261935.1. [O95248-1 ]
    UniGenei Hs.589924.

    3D structure databases

    ProteinModelPortali O95248.
    SMRi O95248. Positions 203-432, 1147-1251, 1318-1595, 1764-1865.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112212. 12 interactions.
    IntActi O95248. 5 interactions.
    MINTi MINT-7034529.
    STRINGi 9606.ENSP00000375097.

    PTM databases

    PhosphoSitei O95248.

    Proteomic databases

    MaxQBi O95248.
    PaxDbi O95248.
    PRIDEi O95248.

    Protocols and materials databases

    DNASUi 6305.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380817 ; ENSP00000370196 ; ENSG00000100241 . [O95248-4 ]
    ENST00000390679 ; ENSP00000375097 ; ENSG00000100241 . [O95248-1 ]
    GeneIDi 6305.
    KEGGi hsa:6305.
    UCSCi uc003blh.3. human. [O95248-4 ]
    uc011arx.2. human. [O95248-1 ]

    Organism-specific databases

    CTDi 6305.
    GeneCardsi GC22M050885.
    GeneReviewsi SBF1.
    HGNCi HGNC:10542. SBF1.
    MIMi 603560. gene.
    615284. phenotype.
    neXtProti NX_O95248.
    Orphaneti 363981. Charcot-Marie-Tooth disease type 4B3.
    PharmGKBi PA34953.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315534.
    HOVERGENi HBG052527.
    KOi K18061.
    OMAi SEWLIQI.
    OrthoDBi EOG747PKH.
    PhylomeDBi O95248.
    TreeFami TF318583.

    Miscellaneous databases

    ChiTaRSi SBF1. human.
    GeneWikii SBF1.
    GenomeRNAii 6305.
    NextBioi 24479.
    PROi O95248.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95248.
    Bgeei O95248.
    CleanExi HS_SBF1.
    Genevestigatori O95248.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    InterProi IPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR004182. GRAM.
    IPR010569. Myotubularin-like_Pase_dom.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR029021. Prot-tyrosine_phosphatase-like.
    IPR022096. SBF2.
    IPR005113. uDENN_dom.
    [Graphical view ]
    Pfami PF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF02893. GRAM. 1 hit.
    PF06602. Myotub-related. 1 hit.
    PF00169. PH. 1 hit.
    PF12335. SBF2. 1 hit.
    PF03456. uDENN. 1 hit.
    [Graphical view ]
    SMARTi SM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00568. GRAM. 1 hit.
    SM00233. PH. 1 hit.
    SM00800. uDENN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52799. SSF52799. 2 hits.
    PROSITEi PS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS51339. PPASE_MYOTUBULARIN. 1 hit.
    PS50946. UDENN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [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 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 938-1866 (ISOFORM 1).
      Tissue: Muscle and Ovary.
    4. "Association of SET domain and myotubularin-related proteins modulates growth control."
      Cui X., De Vivo I., Slany R., Miyamoto A., Firestein R., Cleary M.L.
      Nat. Genet. 18:331-337(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 238-1867 (ISOFORM 1), FUNCTION, INTERACTION WITH KMT2A/MLL1, SUBCELLULAR LOCATION.
      Tissue: Lymphoblast.
    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 1362-1602.
    6. "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9."
      Firestein R., Cui X., Huie P., Cleary M.L.
      Mol. Cell. Biol. 20:4900-4909(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SUV39H1.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1137, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
      Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
      J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3."
      Nakhro K., Park J.M., Hong Y.B., Park J.H., Nam S.H., Yoon B.R., Yoo J.H., Koo H., Jung S.C., Kim H.L., Kim J.Y., Choi K.G., Choi B.O., Chung K.W.
      Neurology 81:165-173(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMT4B3 VAL-417 AND ALA-1564.

    Entry informationi

    Entry nameiMTMR5_HUMAN
    AccessioniPrimary (citable) accession number: O95248
    Secondary accession number(s): A6PVG9
    , O60228, Q5JXD8, Q5PPM2, Q96GR9, Q9UGB8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 134 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 22
      Human chromosome 22: 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

    External Data

    Dasty 3