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Aliases for MUM1 Gene

Aliases for MUM1 Gene

  • Melanoma Associated Antigen (Mutated) 1 2 3
  • Mutated Melanoma-Associated Antigen 1 3 4
  • Protein Expandere 3 4
  • EXPAND1 3 4
  • MUM-1 3 4
  • PWWP Domain-Containing Protein MUM1 3
  • Melanoma Ubiquitous Mutated Protein 3
  • HSPC211 3

External Ids for MUM1 Gene

Previous GeneCards Identifiers for MUM1 Gene

  • GC00U914363
  • GC19P001307
  • GC19P001300
  • GC19P001285
  • GC19P001129

Summaries for MUM1 Gene

GeneCards Summary for MUM1 Gene

MUM1 (Melanoma Associated Antigen (Mutated) 1) is a Protein Coding gene. Diseases associated with MUM1 include nodular lymphocyte predominant hodgkin lymphoma and primary mediastinal large b-cell lymphoma. GO annotations related to this gene include nucleosome binding. An important paralog of this gene is MUM1L1.

UniProtKB/Swiss-Prot for MUM1 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUM1 Gene

Genomics for MUM1 Gene

Regulatory Elements for MUM1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MUM1 Gene

Start:
1,354,711 bp from pter
End:
1,378,431 bp from pter
Size:
23,721 bases
Orientation:
Plus strand

Genomic View for MUM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MUM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUM1 Gene

Proteins for MUM1 Gene

  • Protein details for MUM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TAK8-MUM1_HUMAN
    Recommended name:
    PWWP domain-containing protein MUM1
    Protein Accession:
    Q2TAK8
    Secondary Accessions:
    • A1L489
    • B5ME02
    • B7ZLY8
    • J3KQD6
    • Q13109
    • Q5XKB9
    • Q8N2I4
    • Q96A67

    Protein attributes for MUM1 Gene

    Size:
    710 amino acids
    Molecular mass:
    78636 Da
    Quaternary 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).
    Miscellaneous:
    • Acts as an antigenic peptide recognized by cytolytic T-lymphocytes in a melanoma.
    SequenceCaution:
    • Sequence=AAC50240.1; Type=Frameshift; Positions=4; Evidence={ECO:0000305}; Sequence=AAH08098.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI10875.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI44139.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB55357.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11493.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MUM1 Gene

    Alternative splice isoforms for MUM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUM1 Gene

Proteomics data for MUM1 Gene at MOPED

Post-translational modifications for MUM1 Gene

  • Ubiquitination at Lys642
  • Modification sites at PhosphoSitePlus

Other Protein References for MUM1 Gene

No data available for DME Specific Peptides for MUM1 Gene

Domains for MUM1 Gene

Protein Domains for MUM1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q2TAK8

UniProtKB/Swiss-Prot:

MUM1_HUMAN :
  • Q2TAK8
Domain:
  • The PWWP domain mediates the interaction with nucleosomes.
  • Contains 1 PWWP domain.
Family:
  • Belongs to the MUM1 family.
genes like me logo Genes that share domains with MUM1: view

No data available for Gene Families for MUM1 Gene

Function for MUM1 Gene

Molecular function for MUM1 Gene

GENATLAS Biochemistry: multiple myeloma oncogene 1,same as IRF4,overexpressed in myeloma with translocation t(6;14)(p25;q32)
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for MUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20347427
GO:0031491 nucleosome binding IDA 20347427
genes like me logo Genes that share ontologies with MUM1: view

Phenotypes for MUM1 Gene

GenomeRNAi human phenotypes for MUM1:
genes like me logo Genes that share phenotypes with MUM1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MUM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MUM1 Gene

Localization for MUM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUM1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUM1 Gene COMPARTMENTS Subcellular localization image for MUM1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20347427
genes like me logo Genes that share ontologies with MUM1: view

Pathways for MUM1 Gene

SuperPathways for MUM1 Gene

No Data Available

Interacting Proteins for MUM1 Gene

Selected Interacting proteins: Q2TAK8-MUM1_HUMAN for MUM1 Gene via UniProtKB I2D

Gene Ontology (GO) - Biological Process for MUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 20347427
GO:0006325 chromatin organization IMP 20347427
genes like me logo Genes that share ontologies with MUM1: view

No data available for Pathways by source for MUM1 Gene

Transcripts for MUM1 Gene

Unigene Clusters for MUM1 Gene

Melanoma associated antigen (mutated) 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MUM1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^
SP1:
SP2:
SP3:
SP4: - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: -
SP11:
SP12: -
SP13: - -
SP14:
SP15:

ExUns: 16 ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c
SP1:
SP2:
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12:
SP13:
SP14: -
SP15:

Relevant External Links for MUM1 Gene

GeneLoc Exon Structure for
MUM1
ECgene alternative splicing isoforms for
MUM1

Expression for MUM1 Gene

mRNA expression in normal human tissues for MUM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MUM1 Gene

SOURCE GeneReport for Unigene cluster for MUM1 Gene Hs.515016

genes like me logo Genes that share expressions with MUM1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MUM1 Gene

Orthologs for MUM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUM1 35
  • 98.92 (n)
  • 98.59 (a)
MUM1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MUM1 35
  • 72.16 (n)
  • 67.83 (a)
MUM1 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUM1 35
  • 75.75 (n)
  • 70 (a)
MUM1 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mum1 35
  • 67.97 (n)
  • 63.12 (a)
Mum1 16
Mum1 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 37 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mum1 35
  • 68 (n)
  • 63.8 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 33 (a)
OneToMany
MUM1 35
  • 57.03 (n)
  • 50.42 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2407 35
zebrafish
(Danio rerio)
Actinopterygii MUM1L1 36
  • 16 (a)
OneToMany
Species with no ortholog for MUM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MUM1 Gene

ENSEMBL:
Gene Tree for MUM1 (if available)
TreeFam:
Gene Tree for MUM1 (if available)

Paralogs for MUM1 Gene

Paralogs for MUM1 Gene

Selected SIMAP similar genes for MUM1 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with MUM1: view

Variants for MUM1 Gene

Sequence variations from dbSNP and Humsavar for MUM1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs266805 -- 1,376,724(+) TCCAT(A/G)CTTCT utr-variant-3-prime, nc-transcript-variant
rs713042 -- 1,357,083(+) CTCTC(C/T)CTAGA synonymous-codon, reference, nc-transcript-variant
rs1048909 -- 1,357,497(-) ACAGA(C/T)GTTTC intron-variant
rs2240241 -- 1,366,546(+) TTGTG(A/G)CCTCT intron-variant
rs2247675 -- 1,361,794(-) GACAG(A/G)GGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MUM1 Gene

Variant ID Type Subtype PubMed ID
nsv910292 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv1055e1 CNV Complex 17122850
dgv3575n71 CNV Loss 21882294
dgv3580n71 CNV Loss 21882294
dgv3583n71 CNV Loss 21882294
dgv3587n71 CNV Loss 21882294
dgv3588n71 CNV Loss 21882294
dgv3589n71 CNV Loss 21882294
dgv3595n71 CNV Loss 21882294
dgv3596n71 CNV Loss 21882294
nsv910476 CNV Loss 21882294
dgv3597n71 CNV Loss 21882294
esv32942 CNV Gain+Loss 17666407
dgv3598n71 CNV Loss 21882294
nsv7304 OTHER Inversion 18451855
nsv910488 CNV Loss 21882294
nsv910489 CNV Loss 21882294
nsv828373 CNV Gain 20364138
nsv910491 CNV Gain+Loss 21882294
esv2717841 CNV Deletion 23290073
esv2717842 CNV Deletion 23290073
nsv138487 CNV Loss 16902084
esv2717843 CNV Deletion 23290073
nsv910492 CNV Loss 21882294
dgv3599n71 CNV Loss 21882294
esv1153316 CNV Insertion 17803354
nsv910494 CNV Loss 21882294

Relevant External Links for MUM1 Gene

HapMap Linkage Disequilibrium report
MUM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUM1 Gene

Disorders for MUM1 Gene

(1) University of Copenhagen DISEASES for MUM1 Gene

genes like me logo Genes that share disorders with MUM1: view

No data available for UniProtKB/Swiss-Prot for MUM1 Gene

Publications for MUM1 Gene

  1. A mutated intron sequence codes for an antigenic peptide recognized by cytolytic T lymphocytes on a human melanoma. (PMID: 7644523) Coulie P.G. … Boon T. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 4
  2. Regulation of chromatin architecture by the PWWP domain-containing DNA damage-responsive factor EXPAND1/MUM1. (PMID: 20347427) Huen M.S. … Chen J. (Mol. Cell 2010) 2 3 4
  3. Structural and histone binding ability characterizations of human PWWP domains. (PMID: 21720545) Wu H. … Min J. (PLoS ONE 2011) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for MUM1 Gene

  • Addgene plasmids for MUM1

Sources for MUM1 Gene

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