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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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein 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

HGNCiHGNC:26784. C12orf65.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial large ribosomal subunit Source: GO_Central
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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

Organism-specific databases

MalaCardsiC12orf65.
MIMi613559. phenotype.
615035. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3535MitochondrionSequence analysisAdd
BLAST
Chaini36 – 166131Probable peptide chain release factor C12orf65, mitochondrialPRO_0000311835Add
BLAST

Proteomic databases

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

PTM databases

PhosphoSiteiQ9H3J6.

Expressioni

Gene expression databases

BgeeiQ9H3J6.
CleanExiHS_C12orf65.
ExpressionAtlasiQ9H3J6. baseline and differential.
GenevisibleiQ9H3J6. HS.

Organism-specific databases

HPAiHPA038194.

Interactioni

Protein-protein interaction databases

BioGridi124847. 3 interactions.
IntActiQ9H3J6. 1 interaction.
STRINGi9606.ENSP00000253233.

Structurei

3D structure databases

ProteinModelPortaliQ9H3J6.
SMRiQ9H3J6. Positions 21-121.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni57 – 12165GGQ domainBy similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili127 – 16034Sequence analysisAdd
BLAST

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.
OrthoDBiEOG76QFKC.
PhylomeDBiQ9H3J6.
TreeFamiTF323274.

Family and domain databases

Gene3Di3.30.160.20. 1 hit.
InterProiIPR014720. dsRBD_dom.
IPR000352. Pep_chain_release_fac_I_II.
[Graphical view]
PfamiPF00472. RF-1. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti134 – 1341A → T.
Corresponds to variant rs1045496 [ dbSNP | Ensembl ].
VAR_037325

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei95 – 11925CHQTR…KVDVF → VDHRRPLRGEAPPKGSTASR DFSQV in isoform 2. 1 PublicationVSP_029602Add
BLAST
Alternative sequencei120 – 16647Missing in isoform 2. 1 PublicationVSP_029603Add
BLAST

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_005253630.3. [Q9H3J6-1]
XP_011537282.1. XM_011538980.1. [Q9H3J6-1]
XP_011537283.1. XM_011538981.1. [Q9H3J6-1]
XP_011537284.1. XM_011538982.1. [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

Cross-referencesi

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_005253630.3. [Q9H3J6-1]
XP_011537282.1. XM_011538980.1. [Q9H3J6-1]
XP_011537283.1. XM_011538981.1. [Q9H3J6-1]
XP_011537284.1. XM_011538982.1. [Q9H3J6-1]
UniGeneiHs.319128.

3D structure databases

ProteinModelPortaliQ9H3J6.
SMRiQ9H3J6. Positions 21-121.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124847. 3 interactions.
IntActiQ9H3J6. 1 interaction.
STRINGi9606.ENSP00000253233.

PTM databases

PhosphoSiteiQ9H3J6.

Polymorphism and mutation databases

BioMutaiC12orf65.
DMDMi74733574.

Proteomic databases

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

Protocols and materials databases

DNASUi91574.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi91574.
GeneCardsiC12orf65.
HGNCiHGNC:26784. C12orf65.
HPAiHPA038194.
MalaCardsiC12orf65.
MIMi613541. gene.
613559. phenotype.
615035. phenotype.
neXtProtiNX_Q9H3J6.
Orphaneti320375. Autosomal recessive spastic paraplegia type 55.
1239. Behr syndrome.
254930. Combined oxidative phosphorylation defect type 7.
PharmGKBiPA162377963.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2726. Eukaryota.
COG0216. LUCA.
GeneTreeiENSGT00390000012759.
HOGENOMiHOG000217812.
HOVERGENiHBG094928.
InParanoidiQ9H3J6.
OMAiYNGENSL.
OrthoDBiEOG76QFKC.
PhylomeDBiQ9H3J6.
TreeFamiTF323274.

Miscellaneous databases

ChiTaRSiC12orf65. human.
GenomeRNAii91574.
NextBioi77303.
PROiQ9H3J6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H3J6.
CleanExiHS_C12orf65.
ExpressionAtlasiQ9H3J6. baseline and differential.
GenevisibleiQ9H3J6. HS.

Family and domain databases

Gene3Di3.30.160.20. 1 hit.
InterProiIPR014720. dsRBD_dom.
IPR000352. Pep_chain_release_fac_I_II.
[Graphical view]
PfamiPF00472. RF-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Mao Y.M., Xie Y., Ying K.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Blood, Colon and Testis.
  5. Cited for: INVOLVEMENT IN COXPD7.
  6. "A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome."
    Richter R., Rorbach J., Pajak A., Smith P.M., Wessels H.J., Huynen M.A., Smeitink J.A., Lightowlers R.N., Chrzanowska-Lightowlers Z.M.
    EMBO J. 29:1116-1125(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  7. Cited for: INVOLVEMENT IN SPG55.
  8. "Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65."
    Kogure H., Hikawa Y., Hagihara M., Tochio N., Koshiba S., Inoue Y., Guntert P., Kigawa T., Yokoyama S., Nameki N.
    Proteins 80:2629-2642(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: KNOCKDOWN.

Entry informationi

Entry nameiCL065_HUMAN
AccessioniPrimary (citable) accession number: Q9H3J6
Secondary accession number(s): Q8WUC6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2001
Last modified: March 16, 2016
This is version 108 of the entry and version 1 of the sequence. [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

Miscellaneous

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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.