PTCD3 pentatricopeptide repeat domain 3 [Homo sapiens] - Gene

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Summary

Official Symbol: PTCD3provided by HGNC
Official Full Name: pentatricopeptide repeat domain 3provided by HGNC
Primary source: HGNC:24717
Locus tag: TRG15
See related: Ensembl:ENSG00000132300; HPRD:08631; Vega:OTTHUMG00000153168
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: FLJ20758; DKFZp666K071

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Genomic context

Location :: 2p11.2

Sequence :: Chromosome: 2; NC_000002.11 (86333305..86369280)

See PTCD3 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
lowering PTCD3 in 143B osteosarcoma cells decreased mitochondrial protein synthesis, mitochondrial respiration and the activity of Complexes III and IV, suggesting that PTCD3 has a role in mitochondrial translation
Title: Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation.
PTCD3 associates with the small subunit of the mitochondrial ribosome and is required for efficient translation.
Title: Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Pentatricopeptide repeat domain 3	P18848	ATF4	HPRD	PubMed
Pentatricopeptide repeat domain 3	Q01629	IFITM2	HPRD	PubMed
Pentatricopeptide repeat domain 3	Q9Y383	LUC7L2	HPRD	PubMed
Pentatricopeptide repeat domain 3	P62380	TBPL1	HPRD	PubMed
BioGRID:120366	BioGRID:106958	ATF4	BioGRID	PubMed	Two-hybrid
BioGRID:120366	BioGRID:109268	H2AFX	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120366	BioGRID:114593	HGS	BioGRID	PubMed	Reconstituted Complex
BioGRID:120366	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120366	BioGRID:119646	LUC7L2	BioGRID	PubMed	Two-hybrid
BioGRID:120366	BioGRID:114180	RFXANK	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120366	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120366	BioGRID:204613	Ybx1	BioGRID	PubMed	Affinity Capture-MS

Component	Evidence Code	Pubs
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: pentatricopeptide repeat-containing protein 3, mitochondrial

Names: pentatricopeptide repeat-containing protein 3, mitochondrial; TRG-15; transformation-related gene 15 protein

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NCBI Reference Sequences (RefSeq)

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)

NM_017952.5 → NP_060422.4 pentatricopeptide repeat-containing protein 3, mitochondrial precursor

Status: VALIDATED

Source sequence(s)

AC009309, BC011832, BQ574414, DA479719

Consensus CDS

CCDS33235.1

UniProtKB/Swiss-Prot

Q96EY7

Related

ENSP00000254630, OTTHUMP00000203254, ENST00000254630, OTTHUMT00000329854

Conserved Domains (2) summary

pfam13041
Location:254 – 300
Blast Score: 115

PPR_2; PPR repeat family

cl03252
Location:332 – 367
Blast Score: 81

PPR; PPR repeat

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

86333305..86369280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

86230802..86266770

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009309.4 (78417..114359)	None
genomic	CH471053.2	EAW99464.1
		EAW99465.1
		EAW99466.1
mRNA	AK000765.1	BAA91370.1
mRNA	AK293962.1	BAG57334.1
mRNA	AK315676.1	BAG38041.1
mRNA	AL832520.1	CAH56345.1
mRNA	AW004698.1	None
mRNA	AY277598.1	AAQ18037.1
mRNA	BC001758.1	AAH01758.3
mRNA	BC011832.2	AAH11832.3
mRNA	BE670168.1	None
mRNA	BI825315.1	None
mRNA	BM682009.1	None
mRNA	BM729078.1	None
mRNA	BM792175.1	None
mRNA	BM930217.1	None
mRNA	BQ071234.1	None
mRNA	BQ574414.1	None
mRNA	BQ883563.1	None
mRNA	BU631567.1	None
mRNA	CA776493.1	None
mRNA	CB163660.1	None
mRNA	DA479719.1	None
mRNA	N71834.1	None