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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
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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)

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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