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Protein

Probable peptide chain release factor C12orf65, mitochondrial

Gene

C12orf65

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).By similarity

Miscellaneous

Knockdown of C12orf65 in Hela cells results in increased ROS production and apoptosis, leading to inhibition of cell proliferation.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processProtein biosynthesis

Names & Taxonomyi

Protein namesi
Recommended name:
Probable peptide chain release factor C12orf65, mitochondrial
Gene namesi
ORF Names:My030
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000130921.7.
HGNCiHGNC:26784. C12orf65.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 7 (COXPD7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.
See also OMIM:613559
Spastic paraplegia 55, autosomal recessive (SPG55)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.
See also OMIM:615035

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration, Primary mitochondrial disease

Organism-specific databases

DisGeNETi91574.
MalaCardsiC12orf65.
MIMi613559. phenotype.
615035. phenotype.
OpenTargetsiENSG00000130921.
Orphaneti320375. Autosomal recessive spastic paraplegia type 55.
1239. Behr syndrome.
254930. Combined oxidative phosphorylation defect type 7.
PharmGKBiPA162377963.

Polymorphism and mutation databases

BioMutaiC12orf65.
DMDMi74733574.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 35MitochondrionSequence analysisAdd BLAST35
ChainiPRO_000031183536 – 166Probable peptide chain release factor C12orf65, mitochondrialAdd BLAST131

Proteomic databases

MaxQBiQ9H3J6.
PaxDbiQ9H3J6.
PeptideAtlasiQ9H3J6.
PRIDEiQ9H3J6.
TopDownProteomicsiQ9H3J6-1. [Q9H3J6-1]

PTM databases

iPTMnetiQ9H3J6.
PhosphoSitePlusiQ9H3J6.

Expressioni

Gene expression databases

BgeeiENSG00000130921.
CleanExiHS_C12orf65.
ExpressionAtlasiQ9H3J6. baseline and differential.
GenevisibleiQ9H3J6. HS.

Organism-specific databases

HPAiHPA038194.
HPA057595.

Interactioni

Protein-protein interaction databases

BioGridi124847. 3 interactors.
IntActiQ9H3J6. 1 interactor.
STRINGi9606.ENSP00000253233.

Structurei

3D structure databases

ProteinModelPortaliQ9H3J6.
SMRiQ9H3J6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni57 – 121GGQ domainBy similarityAdd BLAST65

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili127 – 160Sequence analysisAdd BLAST34

Domaini

The GGQ domain may interact with the peptidyltransferase center (PTC) of the large ribosomal subunit to trigger peptidyl-tRNA hydrolysis.1 Publication

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transit peptide

Phylogenomic databases

eggNOGiKOG2726. Eukaryota.
COG0216. LUCA.
GeneTreeiENSGT00390000012759.
HOGENOMiHOG000217812.
HOVERGENiHBG094928.
InParanoidiQ9H3J6.
OMAiYNGENSL.
OrthoDBiEOG091G0YON.
PhylomeDBiQ9H3J6.
TreeFamiTF323274.

Family and domain databases

InterProiView protein in InterPro
IPR000352. Pep_chain_release_fac_I_II.
PfamiView protein in Pfam
PF00472. RF-1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H3J6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSTVGLFHFP TPLTRICPAP WGLRLWEKLT LLSPGIAVTP VQMAGKKDYP
60 70 80 90 100
ALLSLDENEL EEQFVKGHGP GGQATNKTSN CVVLKHIPSG IVVKCHQTRS
110 120 130 140 150
VDQNRKLARK ILQEKVDVFY NGENSPVHKE KREAAKKKQE RKKRAKETLE
160
KKKLLKELWE SSKKVH
Length:166
Mass (Da):18,828
Last modified:March 1, 2001 - v1
Checksum:iCB9B74E0CC7E920C
GO
Isoform 2 (identifier: Q9H3J6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-119: CHQTRSVDQNRKLARKILQEKVDVF → VDHRRPLRGEAPPKGSTASRDFSQV
     120-166: Missing.

Show »
Length:119
Mass (Da):12,923
Checksum:i6D372CA39B233171
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037325134A → T. Corresponds to variant dbSNP:rs1045496Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02960295 – 119CHQTR…KVDVF → VDHRRPLRGEAPPKGSTASR DFSQV in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_029603120 – 166Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF061733 mRNA. Translation: AAG43144.1.
AK095982 mRNA. Translation: BAC04665.1.
CH471054 Genomic DNA. Translation: EAW98395.1.
CH471054 Genomic DNA. Translation: EAW98396.1.
BC018145 mRNA. Translation: AAH18145.1.
BC020885 mRNA. Translation: AAH20885.1.
BC062329 mRNA. Translation: AAH62329.1.
CCDSiCCDS9244.1. [Q9H3J6-1]
RefSeqiNP_001137377.1. NM_001143905.2. [Q9H3J6-1]
NP_001181924.1. NM_001194995.1. [Q9H3J6-1]
NP_689482.1. NM_152269.4. [Q9H3J6-1]
XP_005253687.1. XM_005253630.4. [Q9H3J6-1]
XP_011537282.1. XM_011538980.2. [Q9H3J6-1]
UniGeneiHs.319128.

Genome annotation databases

EnsembliENST00000253233; ENSP00000253233; ENSG00000130921. [Q9H3J6-1]
ENST00000366329; ENSP00000390647; ENSG00000130921. [Q9H3J6-1]
ENST00000429587; ENSP00000391513; ENSG00000130921. [Q9H3J6-1]
GeneIDi91574.
KEGGihsa:91574.
UCSCiuc001uen.4. human. [Q9H3J6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCL065_HUMAN
AccessioniPrimary (citable) accession number: Q9H3J6
Secondary accession number(s): Q8WUC6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2001
Last modified: September 27, 2017
This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

In contrast to other members of the family, lacks the regions that come into close contact with the mRNA in the ribosomal A-site and determine the STOP codon specificity, suggesting a loss of codon specificity for translation release factor activity.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families