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C12orf65 chromosome 12 open reading frame 65 [ Homo sapiens (human) ]

Gene ID: 91574, updated on 9-Dec-2018

Summary

Official Symbol
C12orf65provided by HGNC
Official Full Name
chromosome 12 open reading frame 65provided by HGNC
Primary source
HGNC:HGNC:26784
See related
Ensembl:ENSG00000130921 MIM:613541
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
Also known as
SPG55; COXPD7
Summary
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in ovary (RPKM 3.7), testis (RPKM 3.5) and 25 other tissues See more
Orthologs

Genomic context

See C12orf65 in Genome Data Viewer
Location:
12q24.31
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (123233297..123257959)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123717844..123742651)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene microRNA 4304 Neighboring gene PITPNM2 antisense RNA 1 Neighboring gene M-phase phosphoprotein 9 Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 375

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 7
MedGen: C3150801 OMIM: 613559 GeneReviews: Not available
Compare labs
Spastic paraplegia 55, autosomal recessive
MedGen: C3539506 OMIM: 615035 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38663

Gene Ontology Provided by GOA

Function Evidence Code Pubs
translation release factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
translational termination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
probable peptide chain release factor C12orf65, 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_027517.1 RefSeqGene

    Range
    5001..29663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143905.2NP_001137377.1  probable peptide chain release factor C12orf65, mitochondrial

    See identical proteins and their annotated locations for NP_001137377.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC068768, AC073857, BI850864
    Consensus CDS
    CCDS9244.1
    UniProtKB/Swiss-Prot
    Q9H3J6
    Related
    ENSP00000391513.2, ENST00000429587.2
    Conserved Domains (1) summary
    pfam00472
    Location:53116
    RF-1; RF-1 domain
  2. NM_001194995.1NP_001181924.1  probable peptide chain release factor C12orf65, mitochondrial

    See identical proteins and their annotated locations for NP_001181924.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC068768, AC073857
    Consensus CDS
    CCDS9244.1
    UniProtKB/Swiss-Prot
    Q9H3J6
    Related
    ENSP00000390647.1, ENST00000366329.6
    Conserved Domains (1) summary
    pfam00472
    Location:53116
    RF-1; RF-1 domain
  3. NM_152269.4NP_689482.1  probable peptide chain release factor C12orf65, mitochondrial

    See identical proteins and their annotated locations for NP_689482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses the 5'-most alternate exon. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC068768, BU507560
    Consensus CDS
    CCDS9244.1
    UniProtKB/Swiss-Prot
    Q9H3J6
    Related
    ENSP00000253233.1, ENST00000253233.5
    Conserved Domains (1) summary
    pfam00472
    Location:53116
    RF-1; RF-1 domain

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_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    123233297..123257959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253630.4XP_005253687.1  probable peptide chain release factor C12orf65, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005253687.1

    UniProtKB/Swiss-Prot
    Q9H3J6
    Conserved Domains (1) summary
    pfam00472
    Location:53116
    RF-1; RF-1 domain
  2. XM_024449273.1XP_024305041.1  probable peptide chain release factor C12orf65, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam00472
    Location:53116
    RF-1; RF-1 domain
  3. XM_011538980.3XP_011537282.1  probable peptide chain release factor C12orf65, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011537282.1

    UniProtKB/Swiss-Prot
    Q9H3J6
    Conserved Domains (1) summary
    pfam00472
    Location:53116
    RF-1; RF-1 domain
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