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Q2TAK8

- MUM1_HUMAN

UniProt

Q2TAK8 - MUM1_HUMAN

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Protein

PWWP domain-containing protein MUM1

Gene
MUM1, EXPAND1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

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.

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.
Contains 1 PWWP domain.

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.

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. VSP_026684Add
BLAST
Alternative sequencei69 – 713SSL → MVS in isoform 2. VSP_026685
Alternative sequencei663 – 71048AIICA…NRRRR → CWEMRVRALDPVRRRSRLLD PCAEMELLRSCQHQGVRTPS LLRAHRCFPASVGHHLCDLC GGRGGLQDG in isoform 3. VSP_053986Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti532 – 5321K → R in BAB55357. 1 Publication

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

« Hide 'large scale' publications
  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: June 11, 2014
This is version 70 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

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