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

Gene ID: 139221, updated on 17-Jun-2019

Summary

Official Symbol
PWWP3Bprovided by HGNC
Official Full Name
PWWP domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:26583
See related
Ensembl:ENSG00000157502
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

Genomic context

See PWWP3B in Genome Data Viewer
Location:
Xq22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (106168278..106208961)
105 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 CTD small phosphatase like 2 pseudogene Neighboring gene chondroitin sulfate N-acetylgalactosaminyltransferase 2 pseudogene Neighboring gene uncharacterized LOC105373306 Neighboring gene nucleosome assembly protein 1 like 4 pseudogene 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33516, MGC129994, MGC129995

General protein information

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)

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_001171020.2NP_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
    Q5H9M0
    Related
    ENSP00000349699.2, ENST00000357175.6
    Conserved Domains (1) summary
    cd06080
    Location:390469
    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_152423.4NP_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
    Q5H9M0
    Related
    ENSP00000338641.2, ENST00000337685.6
    Conserved Domains (1) summary
    cd06080
    Location:390469
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    106168278..106208961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530857.1XP_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
    Q5H9M0
    Conserved Domains (1) summary
    cd06080
    Location:390469
    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. XM_017029269.1XP_016884758.1  PWWP domain-containing DNA repair factor 3B isoform X1

    UniProtKB/Swiss-Prot
    Q5H9M0
    Conserved Domains (1) summary
    cd06080
    Location:390469
    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_011530856.1XP_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
    Q5H9M0
    Conserved Domains (1) summary
    cd06080
    Location:390469
    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. XM_024452334.1XP_024308102.1  PWWP domain-containing DNA repair factor 3B isoform X1

    Conserved Domains (1) summary
    cd06080
    Location:390469
    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_005262077.2XP_005262134.1  PWWP domain-containing DNA repair factor 3B isoform X1

    See identical proteins and their annotated locations for XP_005262134.1

    UniProtKB/Swiss-Prot
    Q5H9M0
    Related
    ENSP00000361632.1, ENST00000372552.1
    Conserved Domains (1) summary
    cd06080
    Location:390469
    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 ...
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