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

Gene ID: 84939, updated on 2-Nov-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, Nov 2024]
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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See PWWP3A in Genome Data Viewer
Location:
19p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1354959..1378429)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1324929..1348426)
RS_2024_09 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 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 (22) 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_2024_08

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

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Chemical Information
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