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    PRRT3 proline rich transmembrane protein 3 [ Homo sapiens (human) ]

    Gene ID: 285368, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRRT3provided by HGNC
    Official Full Name
    proline rich transmembrane protein 3provided by HGNC
    Primary source
    HGNC:HGNC:26591
    See related
    Ensembl:ENSG00000163704 MIM:619993; AllianceGenome:HGNC:26591
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 3.4), prostate (RPKM 1.2) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRRT3 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9945542..9952408, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9937528..9946480, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9987226..9994092, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 882, pseudogene Neighboring gene interleukin 17 receptor C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9970047-9970546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9980935-9981732 Neighboring gene cysteine rich with EGF like domains 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9987356-9988018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9988681-9989342 Neighboring gene 3p25 PRRT3 Alu-mediated recombination region Neighboring gene PRRT3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14052 Neighboring gene ER membrane protein complex subunit 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:10018113-10019312 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10028343-10028990 Neighboring gene EMC3 antisense RNA 1 Neighboring gene FANCD2 pseudogene 1 Neighboring gene CYCS pseudogene 10

    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. Cell Surface Proteomic Map of HIV Infection Reveals Antagonism of Amino Acid Metabolism by Vpu and Nef. Matheson NJ, et al. Cell Host Microbe, 2015 Oct 14. PMID 26439863, Free PMC Article
    2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article
    5. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of PRRT3 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33674, MGC33990, MGC105134

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    proline-rich transmembrane protein 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_001318871.2 → NP_001305800.1  proline-rich transmembrane protein 3 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, lacks a portion of the 3' coding region and its 3' terminal exon extends past a known splice site, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC018809, AY358158, BM544786
      Consensus CDS
      CCDS82732.1
      UniProtKB/Swiss-Prot
      Q5FWE3
      Related
      ENSP00000404512.2, ENST00000411976.2
      Conserved Domains (1) summary
      PHA03247
      Location:31 → 392
      PHA03247; large tegument protein UL36; Provisional

    2. NM_207351.5 → NP_997234.3  proline-rich transmembrane protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_997234.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC018809, AK090993, BC040508, BC089447, BM544786
      Consensus CDS
      CCDS43049.1
      UniProtKB/Swiss-Prot
      Q49AD0, Q5FWE3, Q6UXY6, Q8NBC9
      Related
      ENSP00000392511.1, ENST00000412055.6
      Conserved Domains (1) summary
      PHA03247
      Location:84 → 468
      PHA03247; large tegument protein UL36; Provisional

    RNA

    1. NR_134900.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018809, BC089447, BM544786

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9945542..9952408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533628.3 → XP_011531930.1  proline-rich transmembrane protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011531930.1

      UniProtKB/Swiss-Prot
      Q49AD0, Q5FWE3, Q6UXY6, Q8NBC9
      Conserved Domains (1) summary
      PHA03247
      Location:84 → 468
      PHA03247; large tegument protein UL36; Provisional

    2. XM_011533629.3 → XP_011531931.1  proline-rich transmembrane protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011531931.1

      UniProtKB/Swiss-Prot
      Q49AD0, Q5FWE3, Q6UXY6, Q8NBC9
      Conserved Domains (1) summary
      PHA03247
      Location:84 → 468
      PHA03247; large tegument protein UL36; Provisional

    3. XM_047448027.1 → XP_047303983.1  proline-rich transmembrane protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q49AD0, Q5FWE3, Q6UXY6, Q8NBC9

    RNA

    1. XR_007095665.1 RNA Sequence

    2. XR_007095666.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9937528..9946480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346335.1 → XP_054202310.1  proline-rich transmembrane protein 3 isoform X1

    2. XM_054346336.1 → XP_054202311.1  proline-rich transmembrane protein 3 isoform X1

    RNA

    1. XR_008486704.1 RNA Sequence

    2. XR_008486705.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5FWE3.3 GenPept UniProtKB/Swiss-Prot:Q5FWE3

    Gene LinkOut

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

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