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Protein

PWWP domain-containing protein MUM1

Gene

MUM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • nucleosome binding Source: UniProtKB

GO - Biological processi

  • chromatin organization Source: UniProtKB
  • 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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:29641. MUM1.

Subcellular locationi

  • Nucleus 1 Publication

  • Note: Recruited to DNA damage sites via its interaction with the BRCT domain of TP53BP1.

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84939.
PharmGKBiPA164742142.

Polymorphism and mutation databases

BioMutaiMUM1.
DMDMi259016340.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002950461 – 710PWWP domain-containing protein MUM1Add BLAST710

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei161PhosphoserineBy similarity1
Modified residuei374PhosphoserineBy similarity1
Modified residuei375PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ2TAK8.
MaxQBiQ2TAK8.
PaxDbiQ2TAK8.
PeptideAtlasiQ2TAK8.
PRIDEiQ2TAK8.

PTM databases

iPTMnetiQ2TAK8.
PhosphoSitePlusiQ2TAK8.

Expressioni

Gene expression databases

BgeeiENSG00000160953.
CleanExiHS_MUM1.
ExpressionAtlasiQ2TAK8. baseline and differential.
GenevisibleiQ2TAK8. HS.

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

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP55D3DR373EBI-10239402,EBI-10173536
GOPCQ9HD263EBI-10239402,EBI-349832

Protein-protein interaction databases

BioGridi124373. 13 interactors.
IntActiQ2TAK8. 3 interactors.
STRINGi9606.ENSP00000345789.

Structurei

Secondary structure

1710
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi414 – 417Combined sources4
Beta strandi425 – 433Combined sources9
Helixi434 – 436Combined sources3
Beta strandi438 – 443Combined sources6
Beta strandi455 – 458Combined sources4
Helixi459 – 461Combined sources3
Helixi470 – 477Combined sources8
Turni478 – 480Combined sources3
Helixi482 – 500Combined sources19
Helixi508 – 513Combined sources6
Helixi518 – 527Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3PMIX-ray2.82A/B/C/D405-538[»]
ProteinModelPortaliQ2TAK8.
SMRiQ2TAK8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ2TAK8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini411 – 472PWWPAdd BLAST62

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi273 – 349Pro-richAdd BLAST77

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

eggNOGiENOG410IKQG. Eukaryota.
ENOG4111FZN. LUCA.
HOGENOMiHOG000232141.
HOVERGENiHBG054002.
InParanoidiQ2TAK8.
OMAiFDQAIGW.
PhylomeDBiQ2TAK8.

Family and domain databases

InterProiIPR033368. MUM1.
[Graphical view]
PANTHERiPTHR31333:SF4. PTHR31333:SF4. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MADAKYVLCR WEKRLWPAKV LARTATSTKN KRRKEYFLAV QILSLEEKIK
60 70 80 90 100
VKSTEVEILE KSQIEAIASS LASQNEVPAA PLEELAYRRS LRVALDVLSE
110 120 130 140 150
GSIWSQESSA GTGRADRSLR GKPMEHVSSP CDSNSSSLPR GDVLGSSRPH
160 170 180 190 200
RRRPCVQQSL SSSFTCEKDP ECKVDHKKGL RKSENPRGPL VLPAGGGAQD
210 220 230 240 250
ESGSRIHHKN WTLASKRGGN SAQKASLCLN GSSLSEDDTE RDMGSKGGSW
260 270 280 290 300
AAPSLPSGVR EDDPCANAEG HDPGLPLGSL TAPPAPEPSA CSEPGECPAK
310 320 330 340 350
KRPRLDGSQR PPAVQLEPMA AGAAPSPGPG PGPRESVTPR STARLGPPPS
360 370 380 390 400
HASADATRCL PCPDSQKLEK ECQSSEESMG SNSMRSILEE DEEDEEPPRV
410 420 430 440 450
LLYHEPRSFE VGMLVWHKHK KYPFWPAVVK SVRQRDKKAS VLYIEGHMNP
460 470 480 490 500
KMKGFTVSLK SLKHFDCKEK QTLLNQARED FNQDIGWCVS LITDYRVRLG
510 520 530 540 550
CGSFAGSFLE YYAADISYPV RKSIQQDVLG TKLPQLSKGS PEEPVVGCPL
560 570 580 590 600
GQRQPCRKML PDRSRAARDR ANQKLVEYIV KAKGAESHLR AILKSRKPSR
610 620 630 640 650
WLQTFLSSSQ YVTCVETYLE DEGQLDLVVK YLQGVYQEVG AKVLQRTNGD
660 670 680 690 700
RIRFILDVLL PEAIICAISA VDEVDYKTAE EKYIKGPSLS YREKEIFDNQ
710
LLEERNRRRR
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 differs from that shown. Reason: Frameshift at position 4.Curated
The sequence AAH08098 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI10875 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI44139 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB55357 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC11493 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti532K → R in BAB55357 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033195219G → R.2 PublicationsCorresponds to variant rs3826942dbSNPEnsembl.1
Natural variantiVAR_033196551G → A.Corresponds to variant rs34502536dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0266841 – 68Missing in isoform 2. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_02668569 – 71SSL → MVS in isoform 2. 1 Publication3
Alternative sequenceiVSP_053986663 – 710AIICA…NRRRR → CWEMRVRALDPVRRRSRLLD PCAEMELLRSCQHQGVRTPS LLRAHRCFPASVGHHLCDLC GGRGGLQDG in isoform 3. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_011526687.1. XM_011528385.2. [Q2TAK8-2]
UniGeneiHs.515016.

Genome annotation databases

EnsembliENST00000311401; ENSP00000309135; ENSG00000160953.
ENST00000415183; ENSP00000394925; ENSG00000160953.
GeneIDi84939.
KEGGihsa:84939.
UCSCiuc060qzk.1. human. [Q2TAK8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_011526687.1. XM_011528385.2. [Q2TAK8-2]
UniGeneiHs.515016.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3PMIX-ray2.82A/B/C/D405-538[»]
ProteinModelPortaliQ2TAK8.
SMRiQ2TAK8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124373. 13 interactors.
IntActiQ2TAK8. 3 interactors.
STRINGi9606.ENSP00000345789.

PTM databases

iPTMnetiQ2TAK8.
PhosphoSitePlusiQ2TAK8.

Polymorphism and mutation databases

BioMutaiMUM1.
DMDMi259016340.

Proteomic databases

EPDiQ2TAK8.
MaxQBiQ2TAK8.
PaxDbiQ2TAK8.
PeptideAtlasiQ2TAK8.
PRIDEiQ2TAK8.

Protocols and materials databases

DNASUi84939.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311401; ENSP00000309135; ENSG00000160953.
ENST00000415183; ENSP00000394925; ENSG00000160953.
GeneIDi84939.
KEGGihsa:84939.
UCSCiuc060qzk.1. human. [Q2TAK8-1]

Organism-specific databases

CTDi84939.
DisGeNETi84939.
GeneCardsiMUM1.
HGNCiHGNC:29641. MUM1.
HPAiHPA048063.
neXtProtiNX_Q2TAK8.
PharmGKBiPA164742142.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKQG. Eukaryota.
ENOG4111FZN. LUCA.
HOGENOMiHOG000232141.
HOVERGENiHBG054002.
InParanoidiQ2TAK8.
OMAiFDQAIGW.
PhylomeDBiQ2TAK8.

Miscellaneous databases

ChiTaRSiMUM1. human.
EvolutionaryTraceiQ2TAK8.
GenomeRNAii84939.
PROiQ2TAK8.

Gene expression databases

BgeeiENSG00000160953.
CleanExiHS_MUM1.
ExpressionAtlasiQ2TAK8. baseline and differential.
GenevisibleiQ2TAK8. HS.

Family and domain databases

InterProiIPR033368. MUM1.
[Graphical view]
PANTHERiPTHR31333:SF4. PTHR31333:SF4. 1 hit.
ProtoNetiSearch...

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: November 2, 2016
This is version 93 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.