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

Gene ID: 9933, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in appendix (RPKM 13.1), lymph node (RPKM 11.9) and 25 other tissues See more
Orthologs
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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 (103) 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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