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    PUM3 pumilio RNA binding family member 3 [ Homo sapiens (human) ]

    Gene ID: 9933, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PUM3provided by HGNC
    Official Full Name
    pumilio RNA binding family member 3provided by HGNC
    Primary source
    HGNC:HGNC:29676
    See related
    Ensembl:ENSG00000080608 MIM:609960; AllianceGenome:HGNC:29676
    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
    PEN; HA-8; PUF6; XTP5; PUF-A; HLA-HA8; KIAA0020
    Summary
    Enables RNA binding activity. Predicted to be involved in regulation of translation. Located in chromosome; endoplasmic reticulum; and nuclear lumen. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in appendix (RPKM 13.1), lymph node (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PUM3 in Genome Data Viewer
    Location:
    9p24.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (2804152..2844095, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (2807740..2847894, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (2804152..2844095, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene very low density lipoprotein receptor Neighboring gene uncharacterized LOC105375957 Neighboring gene NANOG hESC enhancer GRCh37_chr9:2677398-2677906 Neighboring gene Sharpr-MPRA regulatory region 5035 Neighboring gene potassium voltage-gated channel modifier subfamily V member 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:2808488-2809363 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:2811115-2811988 Neighboring gene Sharpr-MPRA regulatory region 9529 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:2843124-2843685 Neighboring gene Sharpr-MPRA regulatory region 29 Neighboring gene G protein pathway suppressor 2 pseudogene 1 Neighboring gene ATP synthase peripheral stalk subunit d 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
    • 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. Phosphorylation of PUF-A/PUM3 on Y259 modulates PUF-A stability and cell proliferation. Lin HW, et al. PLoS One, 2021. PMID 34407138, Free PMC Article
    2. The immunogenicity of a new human minor histocompatibility antigen results from differential antigen processing. Brickner AG, et al. J Exp Med, 2001 Jan 15. PMID 11148223, Free PMC Article
    3. Feasibility of using genetic linkage analysis to identify the genes encoding T cell-defined minor histocompatibility antigens. Warren EH, et al. Tissue Antigens, 2002 Apr. PMID 12135428
    4. Minor histocompatibility antigens as determinants for graft-versus-host disease after allogeneic haematopoietic stem cell transplantation. Turpeinen H, et al. Int J Immunogenet, 2013 Dec. PMID 23480177
    5. A divergent Pumilio repeat protein family for pre-rRNA processing and mRNA localization. Qiu C, et al. Proc Natl Acad Sci U S A, 2014 Dec 30. PMID 25512524, Free PMC Article

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation of PUF-A/PUM3 on Y259 modulates PUF-A stability and cell proliferation.
      Title: Phosphorylation of PUF-A/PUM3 on Y259 modulates PUF-A stability and cell proliferation.
    2. Results indicate that mismatches in minor H antigens HA-8 (KIAA0020) and ACC-1 (BCL2A1) predisposed to chronic graft-versus-host disease (GvHD).
      Title: Minor histocompatibility antigens as determinants for graft-versus-host disease after allogeneic haematopoietic stem cell transplantation.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8749

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of protein ADP-ribosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pumilio homolog 3
    Names
    HBV X-transactivated gene 5 protein
    HBV XAg-transactivated protein 5
    minor histocompatibility antigen HA-8
    penguin homolog
    protein 5 transactivated by hepatitis B virus X antigen (HBxAg)

    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_014878.5 → NP_055693.4  pumilio homolog 3

      See identical proteins and their annotated locations for NP_055693.4

      Status: VALIDATED

      Source sequence(s)
      AL832239, AL832245, BC016137
      Consensus CDS
      CCDS6448.2
      UniProtKB/Swiss-Prot
      A8K804, Q15397, Q547G7, Q5SZY9, Q6IB47, Q96B27, Q96L78, Q96L79, Q96L80
      Related
      ENSP00000380982.2, ENST00000397885.3
      Conserved Domains (2) summary
      cl21719
      Location:162 → 403
      Pumilio; Pumilio-family RNA binding domain
      pfam08144
      Location:434 → 571
      CPL; CPL (NUC119) domain

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      2804152..2844095 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      2807740..2847894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031691.1: Suppressed sequence

      Description
      NM_001031691.1: This RefSeq was permanently suppressed because it is redundant with an existing reference sequence (NM_014878.4) for this locus.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15397.3 GenPept UniProtKB/Swiss-Prot:Q15397

    Gene LinkOut

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

    Chemical Information
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