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    PRR3 proline rich 3 [ Homo sapiens (human) ]

    Gene ID: 80742, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRR3provided by HGNC
    Official Full Name
    proline rich 3provided by HGNC
    Primary source
    HGNC:HGNC:21149
    See related
    Ensembl:ENSG00000204576 AllianceGenome:HGNC:21149
    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
    CAT56
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 9.9), brain (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRR3 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30556709..30563723)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30420885..30427899)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30524486..30531500)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30485727-30486226 Neighboring gene long intergenic non-protein coding RNA 2569 Neighboring gene G protein nucleolar 1 (putative) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30523544-30524109 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30524110-30524674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30524675-30525239 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30538839-30539400 Neighboring gene ATP binding cassette subfamily F member 1 Neighboring gene microRNA 877 Neighboring gene protein phosphatase 1 regulatory subunit 10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:30577096-30578295

    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. HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia. Paladini F, et al. Arthritis Res Ther, 2009. PMID 19912639, Free PMC Article
    2. GRAMD4 inhibits tumour metastasis by recruiting the E3 ligase ITCH to target TAK1 for degradation in hepatocellular carcinoma. Ge QY, et al. Clin Transl Med, 2021 Nov. PMID 34841685, Free PMC Article
    3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF, et al. PLoS Genet, 2009 Oct. PMID 19851445, Free PMC Article
    4. Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression. Xiao W, et al. Autophagy, 2022 Nov. PMID 35253629, Free PMC Article
    5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.
    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

    • MGC161733, MGC161735

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proline-rich protein 3
    Names
    MHC class I region proline-rich protein CAT56
    proline-rich polypeptide 3

    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_001077497.3 → NP_001070965.1  proline-rich protein 3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL662800
      Consensus CDS
      CCDS43441.1
      UniProtKB/TrEMBL
      B3KQA4
      Related
      ENSP00000365740.3, ENST00000376557.3
      Conserved Domains (1) summary
      pfam00642
      Location:136 → 160
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

    2. NM_025263.4 → NP_079539.2  proline-rich protein 3 isoform a

      See identical proteins and their annotated locations for NP_079539.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL662800
      Consensus CDS
      CCDS43440.1
      UniProtKB/Swiss-Prot
      A1A4H4, P79522, Q5RJB5, Q5STN6
      UniProtKB/TrEMBL
      A0A1U9X8D4, Q96QB9
      Related
      ENSP00000365744.4, ENST00000376560.8
      Conserved Domains (1) summary
      pfam00642
      Location:157 → 181
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30556709..30563723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419381.1 → XP_047275337.1  proline-rich protein 3 isoform X1

    2. XM_047419382.1 → XP_047275338.1  proline-rich protein 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2036429..2043443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329922.1 → XP_054185897.1  proline-rich protein 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1812533..1819547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330414.1 → XP_054186389.1  proline-rich protein 3 isoform X1

    2. XM_054330415.1 → XP_054186390.1  proline-rich protein 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1866938..1873952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330687.1 → XP_054186662.1  proline-rich protein 3 isoform X1

    2. XM_054330688.1 → XP_054186663.1  proline-rich protein 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1900755..1907769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330907.1 → XP_054186882.1  proline-rich protein 3 isoform X1

    2. XM_054330908.1 → XP_054186883.1  proline-rich protein 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1811794..1818808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331186.1 → XP_054187161.1  proline-rich protein 3 isoform X1

    2. XM_054331187.1 → XP_054187162.1  proline-rich protein 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1857464..1864478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331428.1 → XP_054187403.1  proline-rich protein 3 isoform X1

    2. XM_054331429.1 → XP_054187404.1  proline-rich protein 3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30420885..30427899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356480.1 → XP_054212455.1  proline-rich protein 3 isoform X1

    2. XM_054356481.1 → XP_054212456.1  proline-rich protein 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P79522.2 GenPept UniProtKB/Swiss-Prot:P79522

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