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

Gene ID: 84939, updated on 23-Nov-2021

Summary

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
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
Expression
Broad expression in testis (RPKM 16.2), brain (RPKM 11.8) and 24 other tissues See more
Orthologs
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Genomic context

See PWWP3A in Genome Data Viewer
Location:
19p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1354959..1378429)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1354958..1378428)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ephrin A2 Neighboring gene ribosomal protein S15 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 14028 Neighboring gene tRNA-Phe (anticodon GAA) 1-6 Neighboring gene tRNA-Asn (anticodon GTT) 2-6

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001369789.1NP_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
    Related
    ENSP00000467287.4, ENST00000591337.7
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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_001369790.1NP_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
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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_001369792.1NP_001356721.1  PWWP domain-containing DNA repair factor 3A isoform d

    Status: VALIDATED

    Source sequence(s)
    AC004623, AC005329
    Conserved Domains (1) summary
    cd06080
    Location:341420
    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_001369793.1NP_001356722.1  PWWP domain-containing DNA repair factor 3A isoform e

    Status: VALIDATED

    Source sequence(s)
    AC004623, AC005329
    Conserved Domains (1) summary
    cd06080
    Location:286365
    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_001369794.1NP_001356723.1  PWWP domain-containing DNA repair factor 3A isoform f

    Status: VALIDATED

    Source sequence(s)
    AC004623, AC005329
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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_001369795.1NP_001356724.1  PWWP domain-containing DNA repair factor 3A isoform g

    Status: VALIDATED

    Source sequence(s)
    AC004623
  7. NM_001369796.1NP_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
  8. NM_001369797.1NP_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
    Related
    ENSP00000468557.2, ENST00000588810.6
  9. NM_001382408.1NP_001369337.1  PWWP domain-containing DNA repair factor 3A isoform i

    Status: VALIDATED

    Source sequence(s)
    AC004623, AC005329
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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_001382409.1NP_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
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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_001382410.1NP_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
    Related
    ENSP00000394925.3, ENST00000415183.7
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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_032853.5NP_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
    CCDS12062.1
    Related
    ENSP00000498656.1, ENST00000652273.1
    Conserved Domains (1) summary
    cd06080
    Location:409488
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1354959..1378429
    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.
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