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Aliases for MUM1 Gene

Aliases for MUM1 Gene

  • Melanoma Associated Antigen (Mutated) 1 2 3 5
  • 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 Melanoma. Among its related pathways are DNA Damage. Gene Ontology (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.

Additional gene information for MUM1 Gene

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

Genomics for MUM1 Gene

GeneHancer (GH) Regulatory Elements for MUM1 Gene

Promoters and enhancers for MUM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I001353 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.3 +0.6 607 2.9 PKNOX1 ATF1 ARID4B FEZF1 DMAP1 ZNF2 YY1 POLR2B GLIS2 E2F8 MUM1 RPS15P9 EFNA2 C19orf24 GC19P001362
GH19I001382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 94.3 +29.3 29315 2.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NDUFS7 PIR43938 PIR60227 TRF-GAA1-6 TRN-GTT2-6 CIRBP SF3A2 TMEM259 MUM1 TCF3
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 42 -97.9 -97852 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I001437 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.3 +84.8 84772 4.3 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC RPS15 ENSG00000268798 SF3A2 TCF3 TMEM259 LOC100288123 PTBP1 DAZAP1 MED16 ENSG00000267317
GH19I001019 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 25.6 -333.5 -333504 4.4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 TMEM259 GC19P001025 RNU6-2 TCF3 LOC100288123 DAZAP1 GRIN3B PTBP1 CIRBP MED16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MUM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUM1 gene promoter:

Genomic Locations for MUM1 Gene

Genomic Locations for MUM1 Gene
chr19:1,354,711-1,378,431
(GRCh38/hg38)
Size:
23,721 bases
Orientation:
Plus strand
chr19:1,285,890-1,378,430
(GRCh37/hg19)

Genomic View for MUM1 Gene

Genes around MUM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for MUM1 Gene

No data available for DME Specific Peptides for MUM1 Gene

Domains & Families for MUM1 Gene

Gene Families for MUM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MUM1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q2TAK8

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for MUM1 Gene

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,IEA 20347427
genes like me logo Genes that share ontologies with MUM1: view
genes like me logo Genes that share phenotypes with MUM1: view

Clone Products

  • Addgene plasmids for MUM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUM1 Gene

Localization for MUM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUM1 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUM1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20347427
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MUM1: view

Pathways & Interactions for MUM1 Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with MUM1: view

Pathways by source for MUM1 Gene

1 Cell Signaling Technology pathway for MUM1 Gene

Interacting Proteins for MUM1 Gene

Gene Ontology (GO) - Biological Process for MUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP,IEA 20347427
GO:0006325 chromatin organization IEA,IMP 20347427
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with MUM1: view

No data available for SIGNOR curated interactions for MUM1 Gene

Drugs & Compounds for MUM1 Gene

No Compound Related Data Available

Transcripts for MUM1 Gene

Unigene Clusters for MUM1 Gene

Melanoma associated antigen (mutated) 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for MUM1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MUM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MUM1 Gene

This gene is overexpressed in Heart (26.0), Fetal Brain (14.7), Testis (10.9), and Fetal testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MUM1 Gene



Protein tissue co-expression partners for MUM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MUM1 Gene:

MUM1

SOURCE GeneReport for Unigene cluster for MUM1 Gene:

Hs.515016

Evidence on tissue expression from TISSUES for MUM1 Gene

  • Nervous system(4.7)
  • Thyroid gland(4.2)
genes like me logo Genes that share expression patterns with MUM1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.92 (n)
dog
(Canis familiaris)
Mammalia MUM1 33 34
  • 75.75 (n)
cow
(Bos Taurus)
Mammalia MUM1 33 34
  • 72.16 (n)
rat
(Rattus norvegicus)
Mammalia Mum1 33
  • 68 (n)
mouse
(Mus musculus)
Mammalia Mum1 33 16 34
  • 67.97 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves MUM1 33
  • 57.03 (n)
-- 34
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2407 33
zebrafish
(Danio rerio)
Actinopterygii MUM1L1 34
  • 16 (a)
OneToMany
Species where no ortholog for MUM1 was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs1000005371 -- 1,357,903(+) C/G intron_variant
rs1000158184 -- 1,359,132(+) C/G intron_variant
rs1000266374 -- 1,367,587(+) C/T intron_variant
rs1000291983 -- 1,375,628(+) TTATAT/T genic_downstream_transcript_variant, intron_variant
rs1000298729 -- 1,370,105(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv1153316 CNV insertion 17803354
esv2717841 CNV deletion 23290073
esv2717842 CNV deletion 23290073
esv2717843 CNV deletion 23290073
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643389 CNV gain 21293372
esv3643395 CNV loss 21293372
esv3643396 CNV gain 21293372
nsv1055164 CNV gain 25217958
nsv1138646 CNV deletion 24896259
nsv138487 CNV deletion 16902084
nsv578278 CNV loss 21841781
nsv7304 OTHER inversion 18451855
nsv828373 CNV gain 20364138
nsv953942 CNV deletion 24416366

Variation tolerance for MUM1 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUM1

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

Disorders for MUM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MUM1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search MUM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUM1

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

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

Publications for MUM1 Gene

  1. Regulation of chromatin architecture by the PWWP domain-containing DNA damage-responsive factor EXPAND1/MUM1. (PMID: 20347427) Huen MS … Chen J (Molecular cell 2010) 2 3 4 58
  2. A mutated intron sequence codes for an antigenic peptide recognized by cytolytic T lymphocytes on a human melanoma. (PMID: 7644523) Coulie PG … Boon T (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 58
  3. Structural and histone binding ability characterizations of human PWWP domains. (PMID: 21720545) Wu H … Min J (PloS one 2011) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MUM1 Gene

  • Addgene plasmids for MUM1

Sources for MUM1 Gene

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