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Q86WG5

- MTMRD_HUMAN

UniProt

Q86WG5 - MTMRD_HUMAN

Protein

Myotubularin-related protein 13

Gene

SBF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Functioni

    Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.1 Publication

    GO - Molecular functioni

    1. phosphatase activity Source: InterPro
    2. phosphatase regulator activity Source: Ensembl
    3. phosphatidylinositol binding Source: Ensembl
    4. protein binding Source: UniProtKB
    5. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

    GO - Biological processi

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

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myotubularin-related protein 13
    Alternative name(s):
    SET-binding factor 2
    Gene namesi
    Name:SBF2
    Synonyms:CMT4B2, KIAA1766, MTMR13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:2135. SBF2.

    Subcellular locationi

    Cytoplasm 1 Publication. Membrane 1 Publication; Peripheral membrane protein 1 Publication
    Note: Associated with membranes.

    GO - Cellular componenti

    1. membrane Source: UniProtKB
    2. vacuolar membrane Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: 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 CMT4.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Charcot-Marie-Tooth disease, Neurodegeneration, Neuropathy

    Organism-specific databases

    MIMi604563. phenotype.
    Orphaneti99956. Charcot-Marie-Tooth disease type 4B2.
    PharmGKBiPA26649.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18491849Myotubularin-related protein 13PRO_0000094945Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1127 – 11271Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ86WG5.
    PaxDbiQ86WG5.
    PRIDEiQ86WG5.

    PTM databases

    PhosphoSiteiQ86WG5.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed in spinal cord.1 Publication

    Gene expression databases

    ArrayExpressiQ86WG5.
    BgeeiQ86WG5.
    GenevestigatoriQ86WG5.

    Organism-specific databases

    HPAiHPA050933.

    Interactioni

    Subunit structurei

    Interacts with MTMR2.1 Publication

    Protein-protein interaction databases

    BioGridi123597. 3 interactions.
    IntActiQ86WG5. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86WG5.
    SMRiQ86WG5. Positions 27-420, 1136-1584, 1746-1847.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini18 – 8669UDENNAdd
    BLAST
    Domaini116 – 298183DENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini351 – 42070dDENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini871 – 95787GRAMAdd
    BLAST
    Domaini1108 – 1584477Myotubularin phosphatasePROSITE-ProRule annotationAdd
    BLAST
    Domaini1743 – 1847105PHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1630 – 168354Interaction with MTMR2Add
    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.
    InParanoidiQ86WG5.
    KOiK18061.
    OMAiNRAILDH.
    OrthoDBiEOG747PKH.
    PhylomeDBiQ86WG5.
    TreeFamiTF318583.

    Family and domain databases

    Gene3Di2.30.29.30. 2 hits.
    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: Q86WG5-1) [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

    MARLADYFIV VGYDHEKPGS GEGLGKIIQR FPQKDWDDTP FPQGIELFCQ     50
    PGGWQLSRER KQPTFFVVVL TDIDSDRHYC SCLTFYEAEI NLQGTKKEEI 100
    EGEAKVSGLI QPAEVFAPKS LVLVSRLYYP EIFRACLGLI YTVYVDSLNV 150
    SLESLIANLC ACLVPAAGGS QKLFSLGAGD RQLIQTPLHD SLPITGTSVA 200
    LLFQQLGIQN VLSLFCAVLT ENKVLFHSAS FQRLSDACRA LESLMFPLKY 250
    SYPYIPILPA QLLEVLSSPT PFIIGVHSVF KTDVHELLDV IIADLDGGTI 300
    KIPECIHLSS LPEPLLHQTQ SALSLILHPD LEVADHAFPP PRTALSHSKM 350
    LDKEVRAVFL RLFAQLFQGY RSCLQLIRIH AEPVIHFHKT AFLGQRGLVE 400
    NDFLTKVLSG MAFAGFVSER GPPYRSCDLF DELVAFEVER IKVEENNPVK 450
    MIKHVRELAE QLFKNENPNP HMAFQKVPRP TEGSHLRVHI LPFPEINEAR 500
    VQELIQENVA KNQNAPPATR IEKKCVVPAG PPVVSIMDKV TTVFNSAQRL 550
    EVVRNCISFI FENKILETEK TLPAALRALK GKAARQCLTD ELGLHVQQNR 600
    AILDHQQFDY IIRMMNCTLQ DCSSLEEYNI AAALLPLTSA FYRKLAPGVS 650
    QFAYTCVQDH PIWTNQQFWE TTFYNAVQEQ VRSLYLSAKE DNHAPHLKQK 700
    DKLPDDHYQE KTAMDLAAEQ LRLWPTLSKS TQQELVQHEE STVFSQAIHF 750
    ANLMVNLLVP LDTSKNKLLR TSAPGDWESG SNSIVTNSIA GSVAESYDTE 800
    SGFEDSENTD IANSVVRFIT RFIDKVCTES GVTQDHIKSL HCMIPGIVAM 850
    HIETLEAVHR ESRRLPPIQK PKILRPALLP GEEIVCEGLR VLLDPDGREE 900
    ATGGLLGGPQ LLPAEGALFL TTYRILFRGT PHDQLVGEQT VVRSFPIASI 950
    TKEKKITMQN QLQQNMQEGL QITSASFQLI KVAFDEEVSP EVVEIFKKQL 1000
    MKFRYPQSIF STFAFAAGQT TPQIILPKQK EKNTSFRTFS KTIVKGAKRA 1050
    GKMTIGRQYL LKKKTGTIVE ERVNRPGWNE DDDVSVSDES ELPTSTTLKA 1100
    SEKSTMEQLV EKACFRDYQR LGLGTISGSS SRSRPEYFRI TASNRMYSLC 1150
    RSYPGLLVVP QAVQDSSLPR VARCYRHNRL PVVCWKNSRS GTLLLRSGGF 1200
    HGKGVVGLFK SQNSPQAAPT SSLESSSSIE QEKYLQALLN AVSVHQKLRG 1250
    NSTLTVRPAF ALSPGVWASL RSSTRLISSP TSFIDVGARL AGKDHSASFS 1300
    NSSYLQNQLL KRQAALYIFG EKSQLRNFKV EFALNCEFVP VEFHEIRQVK 1350
    ASFKKLMRAC IPSTIPTDSE VTFLKALGDS EWFPQLHRIM QLAVVVSEVL 1400
    ENGSSVLVCL EEGWDITAQV TSLVQLLSDP FYRTLEGFQM LVEKEWLSFG 1450
    HKFSQRSSLT LNCQGSGFAP VFLQFLDCVH QVHNQYPTEF EFNLYYLKFL 1500
    AFHYVSNRFK TFLLDSDYER LEHGTLFDDK GEKHAKKGVC IWECIDRMHK 1550
    RSPIFFNYLY SPLEIEALKP NVNVSSLKKW DYYIEETLST GPSYDWMMLT 1600
    PKHFPSEDSD LAGEAGPRSQ RRTVWPCYDD VSCTQPDALT SLFSEIEKLE 1650
    HKLNQAPEKW QQLWERVTVD LKEEPRTDRS QRHLSRSPGI VSTNLPSYQK 1700
    RSLLHLPDSS MGEEQNSSIS PSNGVERRAA TLYSQYTSKN DENRSFEGTL 1750
    YKRGALLKGW KPRWFVLDVT KHQLRYYDSG EDTSCKGHID LAEVEMVIPA 1800
    GPSMGAPKHT SDKAFFDLKT SKRVYNFCAQ DGQSAQQWMD KIQSCISDA 1849
    Length:1,849
    Mass (Da):208,464
    Last modified:June 1, 2003 - v1
    Checksum:i9EDBA3E3AC05DD3E
    GO
    Isoform 3 (identifier: Q86WG5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1152-1152: S → R
         1153-1849: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,152
    Mass (Da):129,344
    Checksum:iAE52CCAFC9E5C70F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1586 – 15861E → G in CAH18167. (PubMed:17974005)Curated
    Sequence conflicti1665 – 16651E → V in CAH18167. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti303 – 3031P → L.
    Corresponds to variant rs16907355 [ dbSNP | Ensembl ].
    VAR_051766
    Natural varianti679 – 6791E → K.
    Corresponds to variant rs7102464 [ dbSNP | Ensembl ].
    VAR_051767
    Natural varianti1216 – 12161Q → E.1 Publication
    Corresponds to variant rs12574508 [ dbSNP | Ensembl ].
    VAR_051768

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1152 – 11521S → R in isoform 3. 1 PublicationVSP_017157
    Alternative sequencei1153 – 1849697Missing in isoform 3. 1 PublicationVSP_017158Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY234241 mRNA. Translation: AAO62733.1.
    BC011143 mRNA. Translation: AAH11143.1.
    BC043389 mRNA. Translation: AAH43389.1.
    BC053867 mRNA. Translation: AAH53867.1.
    BC063656 mRNA. Translation: AAH63656.1.
    BC101466 mRNA. Translation: AAI01467.1.
    AB051553 mRNA. Translation: BAB21857.1.
    BX538184 mRNA. Translation: CAD98056.1.
    CR749312 mRNA. Translation: CAH18167.1.
    CCDSiCCDS31427.1. [Q86WG5-1]
    RefSeqiNP_112224.1. NM_030962.3. [Q86WG5-1]
    UniGeneiHs.577252.

    Genome annotation databases

    EnsembliENST00000256190; ENSP00000256190; ENSG00000133812. [Q86WG5-1]
    GeneIDi81846.
    KEGGihsa:81846.
    UCSCiuc001mib.2. human. [Q86WG5-1]
    uc001mif.3. human. [Q86WG5-3]

    Polymorphism databases

    DMDMi74750502.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Inherited peripheral neuropathies mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY234241 mRNA. Translation: AAO62733.1 .
    BC011143 mRNA. Translation: AAH11143.1 .
    BC043389 mRNA. Translation: AAH43389.1 .
    BC053867 mRNA. Translation: AAH53867.1 .
    BC063656 mRNA. Translation: AAH63656.1 .
    BC101466 mRNA. Translation: AAI01467.1 .
    AB051553 mRNA. Translation: BAB21857.1 .
    BX538184 mRNA. Translation: CAD98056.1 .
    CR749312 mRNA. Translation: CAH18167.1 .
    CCDSi CCDS31427.1. [Q86WG5-1 ]
    RefSeqi NP_112224.1. NM_030962.3. [Q86WG5-1 ]
    UniGenei Hs.577252.

    3D structure databases

    ProteinModelPortali Q86WG5.
    SMRi Q86WG5. Positions 27-420, 1136-1584, 1746-1847.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123597. 3 interactions.
    IntActi Q86WG5. 1 interaction.

    PTM databases

    PhosphoSitei Q86WG5.

    Polymorphism databases

    DMDMi 74750502.

    Proteomic databases

    MaxQBi Q86WG5.
    PaxDbi Q86WG5.
    PRIDEi Q86WG5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000256190 ; ENSP00000256190 ; ENSG00000133812 . [Q86WG5-1 ]
    GeneIDi 81846.
    KEGGi hsa:81846.
    UCSCi uc001mib.2. human. [Q86WG5-1 ]
    uc001mif.3. human. [Q86WG5-3 ]

    Organism-specific databases

    CTDi 81846.
    GeneCardsi GC11M009800.
    GeneReviewsi SBF2.
    HGNCi HGNC:2135. SBF2.
    HPAi HPA050933.
    MIMi 604563. phenotype.
    607697. gene.
    neXtProti NX_Q86WG5.
    Orphaneti 99956. Charcot-Marie-Tooth disease type 4B2.
    PharmGKBi PA26649.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315534.
    HOVERGENi HBG052527.
    InParanoidi Q86WG5.
    KOi K18061.
    OMAi NRAILDH.
    OrthoDBi EOG747PKH.
    PhylomeDBi Q86WG5.
    TreeFami TF318583.

    Miscellaneous databases

    ChiTaRSi SBF2. human.
    GeneWikii SBF2.
    GenomeRNAii 81846.
    NextBioi 72146.
    PROi Q86WG5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86WG5.
    Bgeei Q86WG5.
    Genevestigatori Q86WG5.

    Family and domain databases

    Gene3Di 2.30.29.30. 2 hits.
    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. "Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15."
      Senderek J., Bergmann C., Weber S., Ketelsen U.-P., Schorle H., Rudnik-Schoeneborn S., Buettner R., Buchheim E., Zerres K.
      Hum. Mol. Genet. 12:349-356(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN CMT4B2, TISSUE SPECIFICITY.
      Tissue: Sciatic nerve.
    2. "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 GLU-1216.
      Tissue: Brain, Cervix, Duodenum and Placenta.
    3. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
      DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-1152 (ISOFORM 3).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1849 (ISOFORM 1).
      Tissue: Fetal brain and Liver.
    5. "Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma."
      Azzedine H., Bolino A., Taieb T., Birouk N., Di Duca M., Bouhouche A., Benamou S., Mrabet A., Hammadouche T., Chkili T., Gouider R., Ravazzolo R., Brice A., Laporte J., LeGuern E.
      Am. J. Hum. Genet. 72:1141-1153(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CMT4B2.
    6. Cited for: INVOLVEMENT IN CMT4B2.
    7. Cited for: INVOLVEMENT IN CMT4B2.
    8. "The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease."
      Robinson F.L., Dixon J.E.
      J. Biol. Chem. 280:31699-31707(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MTMR2, SUBCELLULAR LOCATION.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "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.
    11. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1127, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiMTMRD_HUMAN
    AccessioniPrimary (citable) accession number: Q86WG5
    Secondary accession number(s): Q3MJF0
    , Q68DQ3, Q6P459, Q6PJD1, Q7Z325, Q7Z621, Q86VE2, Q96FE2, Q9C097
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 7, 2006
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 99 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 11
      Human chromosome 11: 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