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Q2TAK8 (MUM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
PWWP domain-containing protein MUM1
Alternative name(s):
Mutated melanoma-associated antigen 1
Short name=MUM-1
Protein expandere
Gene names
Name:MUM1
Synonyms:EXPAND1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length710 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6

Subunit structure

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). Ref.6 Ref.7

Subcellular location

Nucleus. Note: Recuited to DNA damage sites via its interaction with the BRCT domain of TP53BP1. Ref.6

Domain

The PWWP domain mediates the interaction with nucleosomes. Ref.6

Miscellaneous

Acts as an antigenic peptide recognized by cytolytic T-lymphocytes in a melanoma (Ref.3).

Sequence similarities

Belongs to the MUM1 family.

Contains 1 PWWP domain.

Sequence caution

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.

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA repair

Inferred from mutant phenotype Ref.6. Source: UniProtKB

chromatin organization

Inferred from mutant phenotype Ref.6. Source: UniProtKB

   Cellular_componentnucleus

Inferred from direct assay Ref.6. Source: UniProtKB

   Molecular_functionnucleosome binding

Inferred from direct assay Ref.6. Source: UniProtKB

protein binding

Inferred from physical interaction Ref.6. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q2TAK8-1)

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.
Isoform 2 (identifier: Q2TAK8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.
     69-71: SSL → MVS
Isoform 3 (identifier: Q2TAK8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     663-710: AIICAISAVD...LLEERNRRRR → CWEMRVRALD...CGGRGGLQDG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 710710PWWP domain-containing protein MUM1
PRO_0000295046

Regions

Domain411 – 47262PWWP
Compositional bias273 – 34977Pro-rich

Natural variations

Alternative sequence1 – 6868Missing in isoform 2.
VSP_026684
Alternative sequence69 – 713SSL → MVS in isoform 2.
VSP_026685
Alternative sequence663 – 71048AIICA…NRRRR → CWEMRVRALDPVRRRSRLLD PCAEMELLRSCQHQGVRTPS LLRAHRCFPASVGHHLCDLC GGRGGLQDG in isoform 3.
VSP_053986
Natural variant2191G → R. Ref.2 Ref.3
Corresponds to variant rs3826942 [ dbSNP | Ensembl ].
VAR_033195
Natural variant5511G → A.
Corresponds to variant rs34502536 [ dbSNP | Ensembl ].
VAR_033196

Experimental info

Sequence conflict5321K → R in BAB55357. Ref.4

Secondary structure

.................... 710
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 22, 2009. Version 3.
Checksum: 96D8A77FE814F6F8

FASTA71078,636
        10         20         30         40         50         60 
MADAKYVLCR WEKRLWPAKV LARTATSTKN KRRKEYFLAV QILSLEEKIK VKSTEVEILE 

        70         80         90        100        110        120 
KSQIEAIASS LASQNEVPAA PLEELAYRRS LRVALDVLSE GSIWSQESSA GTGRADRSLR 

       130        140        150        160        170        180 
GKPMEHVSSP CDSNSSSLPR GDVLGSSRPH RRRPCVQQSL SSSFTCEKDP ECKVDHKKGL 

       190        200        210        220        230        240 
RKSENPRGPL VLPAGGGAQD ESGSRIHHKN WTLASKRGGN SAQKASLCLN GSSLSEDDTE 

       250        260        270        280        290        300 
RDMGSKGGSW AAPSLPSGVR EDDPCANAEG HDPGLPLGSL TAPPAPEPSA CSEPGECPAK 

       310        320        330        340        350        360 
KRPRLDGSQR PPAVQLEPMA AGAAPSPGPG PGPRESVTPR STARLGPPPS HASADATRCL 

       370        380        390        400        410        420 
PCPDSQKLEK ECQSSEESMG SNSMRSILEE DEEDEEPPRV LLYHEPRSFE VGMLVWHKHK 

       430        440        450        460        470        480 
KYPFWPAVVK SVRQRDKKAS VLYIEGHMNP KMKGFTVSLK SLKHFDCKEK QTLLNQARED 

       490        500        510        520        530        540 
FNQDIGWCVS LITDYRVRLG CGSFAGSFLE YYAADISYPV RKSIQQDVLG TKLPQLSKGS 

       550        560        570        580        590        600 
PEEPVVGCPL GQRQPCRKML PDRSRAARDR ANQKLVEYIV KAKGAESHLR AILKSRKPSR 

       610        620        630        640        650        660 
WLQTFLSSSQ YVTCVETYLE DEGQLDLVVK YLQGVYQEVG AKVLQRTNGD RIRFILDVLL 

       670        680        690        700        710 
PEAIICAISA VDEVDYKTAE EKYIKGPSLS YREKEIFDNQ LLEERNRRRR 

« Hide

Isoform 2 [UniParc].

Checksum: 0597907377251AF8
Show »

FASTA64270,733
Isoform 3 [UniParc].

Checksum: B9C602EEE9C98BBD
Show »

FASTA73180,700

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI38946. I38945.
RefSeqNP_116242.2. NM_032853.3.
UniGeneHs.515016.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3PMIX-ray2.82A/B/C/D405-538[»]
ProteinModelPortalQ2TAK8.
SMRQ2TAK8. Positions 408-529.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124373. 5 interactions.
STRING9606.ENSP00000345789.

PTM databases

PhosphoSiteQ2TAK8.

Polymorphism databases

DMDM259016340.

Proteomic databases

MaxQBQ2TAK8.
PaxDbQ2TAK8.
PRIDEQ2TAK8.

Protocols and materials databases

DNASU84939.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311401; ENSP00000309135; ENSG00000160953. [Q2TAK8-2]
ENST00000415183; ENSP00000394925; ENSG00000160953.
GeneID84939.
KEGGhsa:84939.
UCSCuc002lsb.2. human. [Q2TAK8-2]

Organism-specific databases

CTD84939.
GeneCardsGC19P001285.
HGNCHGNC:29641. MUM1.
HPAHPA048063.
neXtProtNX_Q2TAK8.
PharmGKBPA164742142.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42307.
HOVERGENHBG054002.
InParanoidQ2TAK8.
OMAQAIGWCV.
OrthoDBEOG7BS494.
PhylomeDBQ2TAK8.

Gene expression databases

ArrayExpressQ2TAK8.
BgeeQ2TAK8.
CleanExHS_MUM1.
GenevestigatorQ2TAK8.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSMUM1. human.
EvolutionaryTraceQ2TAK8.
GenomeRNAi84939.
NextBio35481350.
PROQ2TAK8.

Entry information

Entry nameMUM1_HUMAN
AccessionPrimary (citable) accession number: Q2TAK8
Secondary accession number(s): A1L489 expand/collapse secondary AC list , B5ME02, B7ZLY8, J3KQD6, Q13109, Q5XKB9, Q8N2I4, Q96A67
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM