Aliases for PWWP3A Gene

Aliases for PWWP3A Gene

  • PWWP Domain Containing 3A, DNA Repair Factor 2 3 5
  • PWWP Domain-Containing DNA Repair Factor 3A 3 4
  • Melanoma Associated Antigen (Mutated) 1 2 3
  • Mutated Melanoma-Associated Antigen 1 3 4
  • PWWP Domain-Containing Protein MUM1 3 4
  • Protein Expandere 3 4
  • EXPAND1 3 4
  • MUM-1 3 4
  • MUM1 3 4
  • Melanoma Ubiquitous Mutated Protein 3
  • HSPC211 3

External Ids for PWWP3A Gene

Previous HGNC Symbols for PWWP3A Gene

  • MUM1

Previous GeneCards Identifiers for PWWP3A Gene

  • GC19P001355

Summaries for PWWP3A Gene

GeneCards Summary for PWWP3A Gene

PWWP3A (PWWP Domain Containing 3A, DNA Repair Factor) is a Protein Coding gene. Diseases associated with PWWP3A include Melanoma. Among its related pathways are DNA Damage. An important paralog of this gene is PWWP3B.

UniProtKB/Swiss-Prot Summary for PWWP3A 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 PWWP3A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PWWP3A Gene

Genomics for PWWP3A Gene

GeneHancer (GH) Regulatory Elements for PWWP3A Gene

Promoters and enhancers for PWWP3A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PWWP3A on UCSC Golden Path with GeneCards custom track

Genomic Locations for PWWP3A Gene

Genomic Locations for PWWP3A 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)
Size:
92,541 bases
Orientation:
Plus strand

Genomic View for PWWP3A Gene

Genes around PWWP3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PWWP3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PWWP3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PWWP3A Gene

Proteins for PWWP3A Gene

  • Protein details for PWWP3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TAK8-PWP3A_HUMAN
    Recommended name:
    PWWP domain-containing DNA repair factor 3A
    Protein Accession:
    Q2TAK8
    Secondary Accessions:
    • A1L489
    • B5ME02
    • B7ZLY8
    • J3KQD6
    • Q13109
    • Q5XKB9
    • Q8N2I4
    • Q96A67

    Protein attributes for PWWP3A 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; Evidence={ECO:0000305}; Sequence=AAH08098.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI10875.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAI44139.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55357.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11493.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PWWP3A Gene

    Alternative splice isoforms for PWWP3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PWWP3A Gene

Post-translational modifications for PWWP3A Gene

  • Ubiquitination at Lys642
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PWWP3A Gene

Domains & Families for PWWP3A Gene

Gene Families for PWWP3A Gene

Protein Domains for PWWP3A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PWWP3A Gene

GenScript: Design optimal peptide antigens:
  • Melanoma ubiquitous mutated protein (Q13108_HUMAN)
  • Melanoma ubiquitous mutated protein (Q13110_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2TAK8

UniProtKB/Swiss-Prot:

PWP3A_HUMAN :
  • The PWWP domain mediates the interaction with nucleosomes.
  • Belongs to the PWWP3A family.
Domain:
  • The PWWP domain mediates the interaction with nucleosomes.
Family:
  • Belongs to the PWWP3A family.
genes like me logo Genes that share domains with PWWP3A: view

Function for PWWP3A Gene

Molecular function for PWWP3A Gene

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 PWWP3A Gene

Gene Ontology (GO) - Molecular Function for PWWP3A 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 PWWP3A: view
genes like me logo Genes that share phenotypes with PWWP3A: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PWWP3A Gene

Localization for PWWP3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PWWP3A Gene

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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PWWP3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20347427
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PWWP3A: view

No data available for Subcellular locations from COMPARTMENTS for PWWP3A Gene

Pathways & Interactions for PWWP3A Gene

PathCards logo

SuperPathways for PWWP3A Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with PWWP3A: view

Pathways by source for PWWP3A Gene

1 Cell Signaling Technology pathway for PWWP3A Gene

Gene Ontology (GO) - Biological Process for PWWP3A 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 PWWP3A: view

No data available for SIGNOR curated interactions for PWWP3A Gene

Drugs & Compounds for PWWP3A Gene

No Compound Related Data Available

Transcripts for PWWP3A Gene

mRNA/cDNA for PWWP3A Gene

11 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for PWWP3A Gene

No ASD Table

Relevant External Links for PWWP3A Gene

GeneLoc Exon Structure for
PWWP3A

Expression for PWWP3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for PWWP3A Gene:

Hs.515016
genes like me logo Genes that share expression patterns with PWWP3A: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PWWP3A Gene

Orthologs for PWWP3A Gene

This gene was present in the common ancestor of chordates.

Orthologs for PWWP3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUM1 31 30
  • 98.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MUM1 31 30
  • 75.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MUM1 31 30
  • 72.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mum1 30
  • 68 (n)
mouse
(Mus musculus)
Mammalia Mum1 31 30
  • 67.97 (n)
OneToOne
Pwwp3a 17
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves MUM1 30
  • 57.03 (n)
-- 31
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2407 30
zebrafish
(Danio rerio)
Actinopterygii MUM1L1 31
  • 16 (a)
OneToMany
Species where no ortholog for PWWP3A 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 PWWP3A Gene

ENSEMBL:
Gene Tree for PWWP3A (if available)
TreeFam:
Gene Tree for PWWP3A (if available)

Paralogs for PWWP3A Gene

Paralogs for PWWP3A Gene

genes like me logo Genes that share paralogs with PWWP3A: view

Variants for PWWP3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PWWP3A Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
718373 Benign: not provided 1,369,259(+) T/C INTRON_VARIANT
730725 Likely Benign: not provided 1,360,512(+) T/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
789850 Benign: not provided 1,360,744(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs34502536 - p.Gly551Ala
rs3826942 - p.Gly219Arg

Additional dbSNP identifiers (rs#s) for PWWP3A Gene

Additional Variant Information for PWWP3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PWWP3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for PWWP3A Gene

Disorders for PWWP3A Gene

MalaCards: The human disease database

(1) MalaCards diseases for PWWP3A Gene - From: GeneCards

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PWWP3A

genes like me logo Genes that share disorders with PWWP3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PWWP3A Gene

Publications for PWWP3A 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 54
  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 54
  3. Structural and histone binding ability characterizations of human PWWP domains. (PMID: 21720545) Wu H … Min J (PloS one 2011) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3 54

Products for PWWP3A Gene

Sources for PWWP3A Gene