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PTCD3 pentatricopeptide repeat domain 3 [ Homo sapiens (human) ]

Gene ID: 55037, updated on 5-Sep-2021

Summary

Official Symbol
PTCD3provided by HGNC
Official Full Name
pentatricopeptide repeat domain 3provided by HGNC
Primary source
HGNC:HGNC:24717
See related
Ensembl:ENSG00000132300 MIM:614918
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
COXPD51; MRP-S39
Expression
Ubiquitous expression in testis (RPKM 14.7), heart (RPKM 11.3) and 25 other tissues See more
Orthologs
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Genomic context

See PTCD3 in Genome Data Viewer
Location:
2p11.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (86106235..86142157)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86333358..86369280)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374843 Neighboring gene CRISPRi-validated cis-regulatory element chr2.3134 Neighboring gene RNA polymerase I subunit A Neighboring gene conserved acetylation island sequence 34 enhancer Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene inner membrane mitochondrial protein Neighboring gene microRNA 4779 Neighboring gene mitochondrial ribosomal protein L35

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 51
MedGen: C5436703 OMIM: 619057 GeneReviews: Not available
Compare labs
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20758, DKFZp666K071

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables rRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ribosomal small subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ribosomal small subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in ribosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pentatricopeptide repeat domain-containing protein 3, mitochondrial
Names
28S ribosomal protein S39, mitochondrial
TRG-15
mitochondrial small ribosomal subunit protein mS39
pentatricopeptide repeat-containing protein 3, mitochondrial
transformation-related gene 15 protein

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_017952.6NP_060422.4  pentatricopeptide repeat domain-containing protein 3, mitochondrial precursor

    See identical proteins and their annotated locations for NP_060422.4

    Status: VALIDATED

    Source sequence(s)
    AC009309, BC011832, BQ574414, DA479719
    Consensus CDS
    CCDS33235.1
    UniProtKB/Swiss-Prot
    Q96EY7
    Related
    ENSP00000254630.7, ENST00000254630.12
    Conserved Domains (3) summary
    sd00004
    Location:258285
    PPR; PPR repeat [structural motif]
    pfam13812
    Location:319379
    PPR_3; Pentatricopeptide repeat domain
    pfam13041
    Location:254300
    PPR_2; PPR repeat family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    86106235..86142157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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