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    PWWP3A PWWP domain containing 3A, DNA repair factor [ Homo sapiens (human) ]

    Gene ID: 84939, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PWWP3Aprovided by HGNC
    Official Full Name
    PWWP domain containing 3A, DNA repair factorprovided by HGNC
    Primary source
    HGNC:HGNC:29641
    See related
    Ensembl:ENSG00000160953 AllianceGenome:HGNC:29641
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MUM1; MUM-1; EXPAND1; HSPC211
    Summary
    Enables nucleosome binding activity. Involved in DNA repair and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 16.2), brain (RPKM 11.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1354959..1378429)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1324929..1348426)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1354958..1378428)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1284956-1285456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1285457-1285957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1287962-1288548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1291327-1292207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1293760-1294329 Neighboring gene ephrin A2 Neighboring gene ribosomal protein S15 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9700 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:1324501-1325014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:1325015-1325526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1354759-1355644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1361729-1362399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1368468-1368968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1368969-1369469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1380436-1380936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9705 Neighboring gene tRNA-Phe (anticodon GAA) 1-6 Neighboring gene tRNA-Asn (anticodon GTT) 2-6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A mutated intron sequence codes for an antigenic peptide recognized by cytolytic T lymphocytes on a human melanoma. Coulie PG, et al. Proc Natl Acad Sci U S A, 1995 Aug 15. PMID 7644523, Free PMC Article
    2. Regulation of chromatin architecture by the PWWP domain-containing DNA damage-responsive factor EXPAND1/MUM1. Huen MS, et al. Mol Cell, 2010 Mar 26. PMID 20347427, Free PMC Article
    3. Structural and histone binding ability characterizations of human PWWP domains. Wu H, et al. PLoS One, 2011. PMID 21720545, Free PMC Article
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    5. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14868, FLJ22283, MGC131891, MGC163315

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PWWP domain-containing DNA repair factor 3A
    Names
    PWWP domain-containing protein MUM1
    melanoma associated antigen (mutated) 1
    melanoma ubiquitous mutated protein
    mutated melanoma-associated antigen 1
    protein expandere

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001369789.1 → NP_001356718.1  PWWP domain-containing DNA repair factor 3A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate coding exon compared to variant 4. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC004623, AC005329
      Consensus CDS
      CCDS12062.2
      UniProtKB/Swiss-Prot
      A1L489, B5ME02, B7ZLY8, J3KQD6, Q13109, Q2TAK8, Q5XKB9, Q8N2I4, Q96A67
      UniProtKB/TrEMBL
      J3KNX4
      Related
      ENSP00000467287.4, ENST00000591337.7
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    2. NM_001369790.1 → NP_001356719.1  PWWP domain-containing DNA repair factor 3A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (a).
      Source sequence(s)
      AC004623, AC005329
      UniProtKB/TrEMBL
      J3KNX4
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    3. NM_001369792.1 → NP_001356721.1  PWWP domain-containing DNA repair factor 3A isoform d

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329
      UniProtKB/TrEMBL
      J3KNX4
      Conserved Domains (1) summary
      cd06080
      Location:341 → 420
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    4. NM_001369793.1 → NP_001356722.1  PWWP domain-containing DNA repair factor 3A isoform e

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329
      UniProtKB/TrEMBL
      J3KNX4
      Conserved Domains (1) summary
      cd06080
      Location:286 → 365
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    5. NM_001369794.1 → NP_001356723.1  PWWP domain-containing DNA repair factor 3A isoform f

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    6. NM_001369795.1 → NP_001356724.1  PWWP domain-containing DNA repair factor 3A isoform g

      Status: VALIDATED

      Source sequence(s)
      AC004623

    7. NM_001369796.1 → NP_001356725.1  PWWP domain-containing DNA repair factor 3A isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 11, encodes isoform h.
      Source sequence(s)
      AC004623
      Consensus CDS
      CCDS92480.1
      UniProtKB/TrEMBL
      K7ES53

    8. NM_001369797.1 → NP_001356726.1  PWWP domain-containing DNA repair factor 3A isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variant 10, encodes isoform h.
      Source sequence(s)
      AC004623
      Consensus CDS
      CCDS92480.1
      UniProtKB/TrEMBL
      K7ES53
      Related
      ENSP00000468557.2, ENST00000588810.6

    9. NM_001382408.1 → NP_001369337.1  PWWP domain-containing DNA repair factor 3A isoform i

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329
      UniProtKB/TrEMBL
      J3KNX4
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    10. NM_001382409.1 → NP_001369338.1  PWWP domain-containing DNA repair factor 3A isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variant 16, encodes isoform j.
      Source sequence(s)
      AC004623, AC005329
      UniProtKB/TrEMBL
      J3KNX4
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    11. NM_001382410.1 → NP_001369339.1  PWWP domain-containing DNA repair factor 3A isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variant 15, encodes isoform j.
      Source sequence(s)
      AC004623, AC005329
      UniProtKB/TrEMBL
      J3KNX4
      Related
      ENSP00000394925.3, ENST00000415183.7
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    12. NM_032853.5 → NP_116242.3  PWWP domain-containing DNA repair factor 3A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate coding exon compared to variant 4. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC004623, AC005329
      Consensus CDS
      CCDS12062.2
      UniProtKB/Swiss-Prot
      A1L489, B5ME02, B7ZLY8, J3KQD6, Q13109, Q2TAK8, Q5XKB9, Q8N2I4, Q96A67
      UniProtKB/TrEMBL
      J3KNX4
      Related
      ENSP00000498656.1, ENST00000652273.1
      Conserved Domains (1) summary
      cd06080
      Location:409 → 488
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    RNA

    1. NR_024247.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon and lacks another alternate exon compared to variant 4. This variant is represented as non-coding because it would be a nonsense-mediated mRNA (NMD) candidate when the supported translation start codon is used, compared to variant 4.
      Source sequence(s)
      AC004623, AC005329

    2. NR_163148.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004623, BX340943
      Related
      ENST00000590866.2

    3. NR_163149.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004623

    4. NR_168275.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004623

    5. NR_168276.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329

    6. NR_168277.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329

    7. NR_168278.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004623, AC005329

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1354959..1378429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1324929..1348426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032220.1: Suppressed sequence

      Description
      NM_032220.1: This RefSeq was removed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TAK8.3 GenPept UniProtKB/Swiss-Prot:Q2TAK8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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