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PWWP3B PWWP domain containing 3B [ Homo sapiens (human) ]

Gene ID: 139221, updated on 28-Oct-2024

Summary

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Official Symbol
PWWP3Bprovided by HGNC
Official Full Name
PWWP domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:26583
See related
Ensembl:ENSG00000157502 AllianceGenome:HGNC:26583
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MUM1L1
Summary
This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Expression
Biased expression in ovary (RPKM 87.9), testis (RPKM 13.7) and 2 other tissues See more
Orthologs
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Genomic context

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See PWWP3B in Genome Data Viewer
Location:
Xq22.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (106168305..106208956)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (104600239..104640937)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (105412298..105452949)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene serpin family A member 7 Neighboring gene CTDSPL2 pseudogene 2 Neighboring gene CSGALNACT2 pseudogene 2 Neighboring gene nucleosome assembly protein 1 like 4 pseudogene 2

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. MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments. Zhang L, et al. Comb Chem High Throughput Screen, 2023. PMID 36856181
  2. A PWWP Domain of Histone-Lysine N-Methyltransferase NSD2 Binds to Dimethylated Lys-36 of Histone H3 and Regulates NSD2 Function at Chromatin. Sankaran SM, et al. J Biol Chem, 2016 Apr 15. PMID 26912663, Free PMC Article
  3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  4. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments.
    Title: MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments.
Submit: New GeneRIF Correction

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

  • FLJ33516, MGC129994, MGC129995

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
PWWP domain-containing DNA repair factor 3B
Names
MUM1 like 1
MUM1-like protein 1
PWWP domain-containing protein MUM1L1
melanoma associated antigen (mutated) 1-like 1
mutated melanoma-associated antigen 1-like protein 1

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.

Genomic

  1. NG_016639.2 RefSeqGene

    Range
    5001..45652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171020.2 → NP_001164491.1  PWWP domain-containing DNA repair factor 3B

    See identical proteins and their annotated locations for NP_001164491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA412505, BC109292, DA720504, DB445635, Z68289
    Consensus CDS
    CCDS55469.1
    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Related
    ENSP00000349699.2, ENST00000357175.6
    Conserved Domains (1) summary
    cd06080
    Location:390 → 469
    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_152423.5 → NP_689636.3  PWWP domain-containing DNA repair factor 3B

    See identical proteins and their annotated locations for NP_689636.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA412505, AK056478, BC031229, BC109292, CN369699, DA720504
    Consensus CDS
    CCDS55469.1
    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Related
    ENSP00000338641.2, ENST00000337685.6
    Conserved Domains (1) summary
    cd06080
    Location:390 → 469
    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 ...

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    106168305..106208956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441823.1 → XP_047297779.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  2. XM_017029269.2 → XP_016884758.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Conserved Domains (1) summary
    cd06080
    Location:390 → 469
    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. XM_047441822.1 → XP_047297778.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  4. XM_011530856.2 → XP_011529158.1  PWWP domain-containing DNA repair factor 3B isoform X1

    See identical proteins and their annotated locations for XP_011529158.1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Conserved Domains (1) summary
    cd06080
    Location:390 → 469
    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. XM_047441824.1 → XP_047297780.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  6. XM_047441825.1 → XP_047297781.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Related
    ENSP00000361632.1, ENST00000372552.1

  7. XM_024452334.2 → XP_024308102.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Conserved Domains (1) summary
    cd06080
    Location:390 → 469
    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 ...

  8. XM_011530857.2 → XP_011529159.1  PWWP domain-containing DNA repair factor 3B isoform X1

    See identical proteins and their annotated locations for XP_011529159.1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Conserved Domains (1) summary
    cd06080
    Location:390 → 469
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    104600239..104640937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326466.1 → XP_054182441.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  2. XM_054326464.1 → XP_054182439.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  3. XM_054326465.1 → XP_054182440.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  4. XM_054326463.1 → XP_054182438.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  5. XM_054326462.1 → XP_054182437.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  6. XM_054326460.1 → XP_054182435.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

  7. XM_054326461.1 → XP_054182436.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5H9M0.1 GenPept UniProtKB/Swiss-Prot:Q5H9M0

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