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PRR3 proline rich 3 [ Homo sapiens (human) ]

Gene ID: 80742, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 9.9), brain (RPKM 7.4) and 25 other tissues See more
Orthologs
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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
  • 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)

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

Gene LinkOut

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