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PTCD1 pentatricopeptide repeat domain 1 [ Homo sapiens (human) ]

Gene ID: 26024, updated on 12-May-2019

Summary

Official Symbol
PTCD1provided by HGNC
Official Full Name
pentatricopeptide repeat domain 1provided by HGNC
Primary source
HGNC:HGNC:22198
See related
Ensembl:ENSG00000106246 MIM:614774
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in testis (RPKM 5.8), bone marrow (RPKM 4.7) and 25 other tissues See more
Orthologs

Genomic context

See PTCD1 in Genome Data Viewer
Location:
7q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (99416739..99438839, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99014362..99045811, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene actin related protein 2/3 complex subunit 1A Neighboring gene actin related protein 2/3 complex subunit 1B Neighboring gene PDGFA associated protein 1 Neighboring gene ATP5MF-PTCD1 readthrough Neighboring gene BUD31 homolog Neighboring gene SAP domain containing ribonucleoprotein pseudogene Neighboring gene cleavage and polyadenylation specific factor 4 Neighboring gene ATP synthase membrane subunit f

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ATP5MF-PTCD1

Readthrough gene: ATP5MF-PTCD1, Included gene: ATP5MF

Homology

Clone Names

  • KIAA0632

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
tRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA 3'-end processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pentatricopeptide repeat-containing protein 1, mitochondrial

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.

Genomic

  1. NG_042827.1 RefSeqGene

    Range
    5001..27101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015545.3NP_056360.2  pentatricopeptide repeat-containing protein 1, mitochondrial

    See identical proteins and their annotated locations for NP_056360.2

    Status: REVIEWED

    Source sequence(s)
    AB014532, DA770648
    Consensus CDS
    CCDS34691.1
    UniProtKB/Swiss-Prot
    O75127
    UniProtKB/TrEMBL
    A4D273
    Related
    ENSP00000292478.4, ENST00000292478.8
    Conserved Domains (3) summary
    TIGR00756
    Location:176208
    PPR; pentatricopeptide repeat domain (PPR motif)
    sd00004
    Location:176202
    PPR; PPR repeat [structural motif]
    pfam13041
    Location:553596
    PPR_2; PPR repeat family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    99416739..99438839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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