Q2TAK8 (MUM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	710 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Ref.6
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 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 process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Inferred from mutant phenotype Ref.6. Source: UniProtKB chromatin organization Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	nucleus Inferred from direct assay Ref.6. Source: UniProtKB
Molecular_function	nucleosome binding Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 710

710

PWWP domain-containing protein MUM1

PRO_0000295046

Regions

Domain

411 – 472

62

PWWP

Compositional bias

273 – 349

77

Pro-rich

Natural variations

Alternative sequence

1 – 68

68

Missing in isoform 2.

VSP_026684

Alternative sequence

69 – 71

3

SSL → MVS in isoform 2.

VSP_026685

Natural variant

219

1

G → R. Ref.2 Ref.3
Corresponds to variant rs3826942 [ dbSNP | Ensembl ].

VAR_033195

Natural variant

551

1

G → A.
Corresponds to variant rs34502536 [ dbSNP | Ensembl ].

VAR_033196

Experimental info

Sequence conflict

532

1

K → R in BAB55357. Ref.4

Secondary structure

1

.

.

.

.

.

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.

.

.

.

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.

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710

Helix Strand Turn

Details...

Beta strand

414 – 417

4

Beta strand

425 – 433

9

Helix

434 – 436

3

Beta strand

438 – 443

6

Beta strand

455 – 458

4

Helix

459 – 461

3

Helix

470 – 477

8

Turn

478 – 480

3

Helix

482 – 500

19

Helix

508 – 513

6

Helix

518 – 527

10

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 22, 2009. Version 3. Checksum: 96D8A77FE814F6F8	FASTA	710	78,636
	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
	Isoform 2 [UniParc]. Checksum: 0597907377251AF8	FASTA	642	70,733
	10 20 30 40 50 60 MVSASQNEVP AAPLEELAYR RSLRVALDVL SEGSIWSQES SAGTGRADRS LRGKPMEHVS 70 80 90 100 110 120 SPCDSNSSSL PRGDVLGSSR PHRRRPCVQQ SLSSSFTCEK DPECKVDHKK GLRKSENPRG 130 140 150 160 170 180 PLVLPAGGGA QDESGSRIHH KNWTLASKRG GNSAQKASLC LNGSSLSEDD TERDMGSKGG 190 200 210 220 230 240 SWAAPSLPSG VREDDPCANA EGHDPGLPLG SLTAPPAPEP SACSEPGECP AKKRPRLDGS 250 260 270 280 290 300 QRPPAVQLEP MAAGAAPSPG PGPGPRESVT PRSTARLGPP PSHASADATR CLPCPDSQKL 310 320 330 340 350 360 EKECQSSEES MGSNSMRSIL EEDEEDEEPP RVLLYHEPRS FEVGMLVWHK HKKYPFWPAV 370 380 390 400 410 420 VKSVRQRDKK ASVLYIEGHM NPKMKGFTVS LKSLKHFDCK EKQTLLNQAR EDFNQDIGWC 430 440 450 460 470 480 VSLITDYRVR LGCGSFAGSF LEYYAADISY PVRKSIQQDV LGTKLPQLSK GSPEEPVVGC 490 500 510 520 530 540 PLGQRQPCRK MLPDRSRAAR DRANQKLVEY IVKAKGAESH LRAILKSRKP SRWLQTFLSS 550 560 570 580 590 600 SQYVTCVETY LEDEGQLDLV VKYLQGVYQE VGAKVLQRTN GDRIRFILDV LLPEAIICAI 610 620 630 640 SAVDEVDYKT AEEKYIKGPS LSYREKEIFD NQLLEERNRR RR

References

	« Hide 'large scale' referencesShow '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. , 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 AND 2), 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]	"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]	"The crystal structure of PWWP domain of human mutated melanoma-associated antigen 1." Structural genomics consortium (SGC) Submitted (DEC-2010) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.82 ANGSTROMS) OF 405-538.
+	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.
AK027774 mRNA. Translation: BAB55357.1. Different initiation.
AK075241 mRNA. Translation: BAC11493.1. Different initiation.

IPI

IPI00383594.
IPI00479698.

PIR

I38946. I38945.

RefSeq

NP_116242.2. NM_032853.3.

UniGene

Hs.515016.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3PMI	X-ray	2.82	A/B/C/D	405-538	[»]

ProteinModelPortal

Q2TAK8.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000345789.

PTM databases

PhosphoSite

Q2TAK8.

Polymorphism databases

DMDM

259016340.

Proteomic databases

PaxDb

Q2TAK8.

PRIDE

Q2TAK8.

Protocols and materials databases

DNASU

84939.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000311401; ENSP00000309135; ENSG00000160953.

GeneID

84939.

KEGG

hsa:84939.

UCSC

uc002lrz.2. human.
uc002lsb.2. human.

Organism-specific databases

CTD

84939.

GeneCards

GC19P001285.

HGNC

HGNC:29641. MUM1.

HPA

HPA048063.

neXtProt

NX_Q2TAK8.

PharmGKB

PA164742142.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG42307.

HOVERGEN

HBG054002.

InParanoid

Q2TAK8.

OrthoDB

EOG4P5K8K.

Gene expression databases

Bgee

Q2TAK8.

CleanEx

HS_MUM1.

Genevestigator

Q2TAK8.

Family and domain databases

InterPro

IPR000313. PWWP.
[Graphical view]

Pfam

PF00855. PWWP. 1 hit.
[Graphical view]

PROSITE

PS50812. PWWP. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

MUM1. human.

EvolutionaryTrace

Q2TAK8.

GenomeRNAi

84939.

NextBio

75398.

Entry information

Entry name

MUM1_HUMAN

Accession

Primary (citable) accession number: Q2TAK8
Secondary accession number(s): A1L489 , B5ME02, Q13109, Q5XKB9, Q8N2I4, Q96A67

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	September 22, 2009
Last modified:	May 1, 2013
This is version 58 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.