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Q2TAK8

- MUM1_HUMAN

UniProt

Q2TAK8 - MUM1_HUMAN

Protein

PWWP domain-containing protein MUM1

Gene

MUM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 71 (01 Oct 2014)
      Sequence version 3 (22 Sep 2009)
      Previous versions | rss
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    Functioni

    Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage.1 Publication

    GO - Molecular functioni

    1. nucleosome binding Source: UniProtKB
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. chromatin organization Source: UniProtKB
    2. DNA repair Source: UniProtKB

    Keywords - Biological processi

    DNA damage, DNA repair

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    PWWP domain-containing protein MUM1
    Alternative name(s):
    Mutated melanoma-associated antigen 1
    Short name:
    MUM-1
    Protein expandere
    Gene namesi
    Name:MUM1
    Synonyms:EXPAND1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:29641. MUM1.

    Subcellular locationi

    Nucleus 1 Publication
    Note: Recuited to DNA damage sites via its interaction with the BRCT domain of TP53BP1.

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164742142.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 710710PWWP domain-containing protein MUM1PRO_0000295046Add
    BLAST

    Proteomic databases

    MaxQBiQ2TAK8.
    PaxDbiQ2TAK8.
    PRIDEiQ2TAK8.

    PTM databases

    PhosphoSiteiQ2TAK8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ2TAK8.
    BgeeiQ2TAK8.
    CleanExiHS_MUM1.
    GenevestigatoriQ2TAK8.

    Organism-specific databases

    HPAiHPA048063.

    Interactioni

    Subunit structurei

    Interacts with TP53BP1 (via BRCT domain); the interaction is not dependent on its phosphorylation status. Binds nucleosomes. Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3) (in vitro).2 Publications

    Protein-protein interaction databases

    BioGridi124373. 5 interactions.
    STRINGi9606.ENSP00000345789.

    Structurei

    Secondary structure

    1
    710
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi414 – 4174
    Beta strandi425 – 4339
    Helixi434 – 4363
    Beta strandi438 – 4436
    Beta strandi455 – 4584
    Helixi459 – 4613
    Helixi470 – 4778
    Turni478 – 4803
    Helixi482 – 50019
    Helixi508 – 5136
    Helixi518 – 52710

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3PMIX-ray2.82A/B/C/D405-538[»]
    ProteinModelPortaliQ2TAK8.
    SMRiQ2TAK8. Positions 408-529.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ2TAK8.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini411 – 47262PWWPAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi273 – 34977Pro-richAdd
    BLAST

    Domaini

    The PWWP domain mediates the interaction with nucleosomes.1 Publication

    Sequence similaritiesi

    Belongs to the MUM1 family.Curated
    Contains 1 PWWP domain.Curated

    Phylogenomic databases

    eggNOGiNOG42307.
    HOVERGENiHBG054002.
    InParanoidiQ2TAK8.
    OMAiQAIGWCV.
    OrthoDBiEOG7BS494.
    PhylomeDBiQ2TAK8.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q2TAK8-1) [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

    MADAKYVLCR WEKRLWPAKV LARTATSTKN KRRKEYFLAV QILSLEEKIK    50
    VKSTEVEILE KSQIEAIASS LASQNEVPAA PLEELAYRRS LRVALDVLSE 100
    GSIWSQESSA GTGRADRSLR GKPMEHVSSP CDSNSSSLPR GDVLGSSRPH 150
    RRRPCVQQSL SSSFTCEKDP ECKVDHKKGL RKSENPRGPL VLPAGGGAQD 200
    ESGSRIHHKN WTLASKRGGN SAQKASLCLN GSSLSEDDTE RDMGSKGGSW 250
    AAPSLPSGVR EDDPCANAEG HDPGLPLGSL TAPPAPEPSA CSEPGECPAK 300
    KRPRLDGSQR PPAVQLEPMA AGAAPSPGPG PGPRESVTPR STARLGPPPS 350
    HASADATRCL PCPDSQKLEK ECQSSEESMG SNSMRSILEE DEEDEEPPRV 400
    LLYHEPRSFE VGMLVWHKHK KYPFWPAVVK SVRQRDKKAS VLYIEGHMNP 450
    KMKGFTVSLK SLKHFDCKEK QTLLNQARED FNQDIGWCVS LITDYRVRLG 500
    CGSFAGSFLE YYAADISYPV RKSIQQDVLG TKLPQLSKGS PEEPVVGCPL 550
    GQRQPCRKML PDRSRAARDR ANQKLVEYIV KAKGAESHLR AILKSRKPSR 600
    WLQTFLSSSQ YVTCVETYLE DEGQLDLVVK YLQGVYQEVG AKVLQRTNGD 650
    RIRFILDVLL PEAIICAISA VDEVDYKTAE EKYIKGPSLS YREKEIFDNQ 700
    LLEERNRRRR 710
    Length:710
    Mass (Da):78,636
    Last modified:September 22, 2009 - v3
    Checksum:i96D8A77FE814F6F8
    GO
    Isoform 2 (identifier: Q2TAK8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-68: Missing.
         69-71: SSL → MVS

    Show »
    Length:642
    Mass (Da):70,733
    Checksum:i0597907377251AF8
    GO
    Isoform 3 (identifier: Q2TAK8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         663-710: AIICAISAVD...LLEERNRRRR → CWEMRVRALD...CGGRGGLQDG

    Note: No experimental confirmation available.

    Show »
    Length:731
    Mass (Da):80,700
    Checksum:iB9C602EEE9C98BBD
    GO

    Sequence cautioni

    The sequence AAC50240.1 differs from that shown. Reason: Frameshift at position 4.
    The sequence AAH08098.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI10875.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAI44139.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB55357.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAC11493.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti532 – 5321K → R in BAB55357. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti219 – 2191G → R.2 Publications
    Corresponds to variant rs3826942 [ dbSNP | Ensembl ].
    VAR_033195
    Natural varianti551 – 5511G → A.
    Corresponds to variant rs34502536 [ dbSNP | Ensembl ].
    VAR_033196

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6868Missing in isoform 2. 1 PublicationVSP_026684Add
    BLAST
    Alternative sequencei69 – 713SSL → MVS in isoform 2. 1 PublicationVSP_026685
    Alternative sequencei663 – 71048AIICA…NRRRR → CWEMRVRALDPVRRRSRLLD PCAEMELLRSCQHQGVRTPS LLRAHRCFPASVGHHLCDLC GGRGGLQDG in isoform 3. 1 PublicationVSP_053986Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U20897 mRNA. Translation: AAC50240.1. Frameshift.
    AC004258 Genomic DNA. No translation available.
    AC004623 Genomic DNA. No translation available.
    AC005329 Genomic DNA. No translation available.
    AC005330 Genomic DNA. No translation available.
    BC008098 mRNA. Translation: AAH08098.1. Different initiation.
    BC082987 mRNA. Translation: AAH82987.1.
    BC110874 mRNA. Translation: AAI10875.1. Different initiation.
    BC130443 mRNA. Translation: AAI30444.1.
    BC144138 mRNA. Translation: AAI44139.1. Different initiation.
    AK027774 mRNA. Translation: BAB55357.1. Different initiation.
    AK075241 mRNA. Translation: BAC11493.1. Different initiation.
    PIRiI38945. I38946.
    RefSeqiNP_116242.2. NM_032853.3.
    UniGeneiHs.515016.

    Genome annotation databases

    EnsembliENST00000311401; ENSP00000309135; ENSG00000160953. [Q2TAK8-2]
    ENST00000415183; ENSP00000394925; ENSG00000160953.
    GeneIDi84939.
    KEGGihsa:84939.
    UCSCiuc002lsb.2. human. [Q2TAK8-2]

    Polymorphism databases

    DMDMi259016340.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U20897 mRNA. Translation: AAC50240.1 . Frameshift.
    AC004258 Genomic DNA. No translation available.
    AC004623 Genomic DNA. No translation available.
    AC005329 Genomic DNA. No translation available.
    AC005330 Genomic DNA. No translation available.
    BC008098 mRNA. Translation: AAH08098.1 . Different initiation.
    BC082987 mRNA. Translation: AAH82987.1 .
    BC110874 mRNA. Translation: AAI10875.1 . Different initiation.
    BC130443 mRNA. Translation: AAI30444.1 .
    BC144138 mRNA. Translation: AAI44139.1 . Different initiation.
    AK027774 mRNA. Translation: BAB55357.1 . Different initiation.
    AK075241 mRNA. Translation: BAC11493.1 . Different initiation.
    PIRi I38945. I38946.
    RefSeqi NP_116242.2. NM_032853.3.
    UniGenei Hs.515016.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3PMI X-ray 2.82 A/B/C/D 405-538 [» ]
    ProteinModelPortali Q2TAK8.
    SMRi Q2TAK8. Positions 408-529.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124373. 5 interactions.
    STRINGi 9606.ENSP00000345789.

    PTM databases

    PhosphoSitei Q2TAK8.

    Polymorphism databases

    DMDMi 259016340.

    Proteomic databases

    MaxQBi Q2TAK8.
    PaxDbi Q2TAK8.
    PRIDEi Q2TAK8.

    Protocols and materials databases

    DNASUi 84939.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311401 ; ENSP00000309135 ; ENSG00000160953 . [Q2TAK8-2 ]
    ENST00000415183 ; ENSP00000394925 ; ENSG00000160953 .
    GeneIDi 84939.
    KEGGi hsa:84939.
    UCSCi uc002lsb.2. human. [Q2TAK8-2 ]

    Organism-specific databases

    CTDi 84939.
    GeneCardsi GC19P001285.
    HGNCi HGNC:29641. MUM1.
    HPAi HPA048063.
    neXtProti NX_Q2TAK8.
    PharmGKBi PA164742142.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42307.
    HOVERGENi HBG054002.
    InParanoidi Q2TAK8.
    OMAi QAIGWCV.
    OrthoDBi EOG7BS494.
    PhylomeDBi Q2TAK8.

    Miscellaneous databases

    ChiTaRSi MUM1. human.
    EvolutionaryTracei Q2TAK8.
    GenomeRNAii 84939.
    NextBioi 35481350.
    PROi Q2TAK8.

    Gene expression databases

    ArrayExpressi Q2TAK8.
    Bgeei Q2TAK8.
    CleanExi HS_MUM1.
    Genevestigatori Q2TAK8.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1; 2 AND 3), VARIANT ARG-219.
      Tissue: Brain and PNS.
    3. "A mutated intron sequence codes for an antigenic peptide recognized by cytolytic T lymphocytes on a human melanoma."
      Coulie P.G., Lehmann F., Lethe B., Herman J., Lurquin C., Andrawiss M., Boon T.
      Proc. Natl. Acad. Sci. U.S.A. 92:7976-7980(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-411, VARIANT ARG-219.
      Tissue: Melanoma.
    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 421-710 (ISOFORMS 1/2).
      Tissue: Placenta and Thyroid.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "Regulation of chromatin architecture by the PWWP domain-containing DNA damage-responsive factor EXPAND1/MUM1."
      Huen M.S., Huang J., Leung J.W., Sy S.M., Leung K.M., Ching Y.P., Tsao S.W., Chen J.
      Mol. Cell 37:854-864(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION, DOMAIN PWWP, INTERACTION WITH TP53BP1 AND NUCLEOSOMES.
    7. "Structural and histone binding ability characterizations of human PWWP domains."
      Wu H., Zeng H., Lam R., Tempel W., Amaya M.F., Xu C., Dombrovski L., Qiu W., Wang Y., Min J.
      PLoS ONE 6:E18919-E18919(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.82 ANGSTROMS) OF 405-538, INTERACTION WITH TRIMETHYLATED HISTONE H3.

    Entry informationi

    Entry nameiMUM1_HUMAN
    AccessioniPrimary (citable) accession number: Q2TAK8
    Secondary accession number(s): A1L489
    , B5ME02, B7ZLY8, J3KQD6, Q13109, Q5XKB9, Q8N2I4, Q96A67
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: September 22, 2009
    Last modified: October 1, 2014
    This is version 71 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

    Miscellaneous

    Acts as an antigenic peptide recognized by cytolytic T-lymphocytes in a melanoma.1 Publication

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3