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PET117 PET117 cytochrome c oxidase chaperone [ Homo sapiens (human) ]

Gene ID: 100303755, updated on 13-May-2022

Summary

Official Symbol
PET117provided by HGNC
Official Full Name
PET117 cytochrome c oxidase chaperoneprovided by HGNC
Primary source
HGNC:HGNC:40045
See related
Ensembl:ENSG00000232838 MIM:614771; AllianceGenome:HGNC:40045
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
CSRP2BP; MC4DN19
Summary
Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in cytochrome-c oxidase deficiency disease. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 11.7), stomach (RPKM 11.1) and 25 other tissues See more
Orthologs
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Genomic context

See PET117 in Genome Data Viewer
Location:
20p11.23
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (18137863..18143169)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (18188733..18194026)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (18118507..18123813)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L15 pseudogene 1 Neighboring gene RNA, U7 small nuclear 137 pseudogene Neighboring gene lysine acetyltransferase 14 Neighboring gene GGCT pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 14, pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in mitochondrial cytochrome c oxidase assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
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 

General protein information

Preferred Names
protein PET117 homolog, mitochondrial
Names
PET117 homolog
alternative protein CSRP2BP

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_001164811.2NP_001158283.1  protein PET117 homolog, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001158283.1

    Status: VALIDATED

    Source sequence(s)
    AY358666, BI601826, BM984163
    Consensus CDS
    CCDS54450.1
    UniProtKB/Swiss-Prot
    Q6UWS5
    UniProtKB/TrEMBL
    L0R6F6
    Related
    ENSP00000397881.2, ENST00000432901.4
    Conserved Domains (1) summary
    pfam15786
    Location:568
    PET117; PET assembly of cytochrome c oxidase, mitochondrial

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    18137863..18143169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    18188733..18194026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)