C12orf65 Gene
protein-coding GIFtS: 47
GCID: GC12P123717
|
|
chromosome 12 open reading frame 65
| |
Aliases
for C12orf65 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 12 Open Reading Frame 651 2 | | SPG551 2 | | COXPD72 5 | | FLJ386631 | | Probable Peptide Chain Release Factor C12orf65, Mitochondrial2 |
Export aliases for C12orf65 gene to outside databasesPrevious GC identifers: GC12P122283 GC12P120678 |
Summaries
for C12orf65 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for C12orf65:
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in themitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)resultin decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes andencepthalomyopathy. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2010)
UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6Function: May act as a codon-independent translation release factor that has lost all stop codon specificity anddirects the termination of translation in mitochondrion (By similarity)
|
Genomic Views
for C12orf65 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009755.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C12orf65 gene promoter:
FOXI1 HFH-3 GATA-3 FOXD3 GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for C12orf65
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf65 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31C12orf65 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P123717: view genomic region
(about GC identifiers)
Start:
|
123,717,463 bp from pter |
End:
|
123,742,506 bp from pter |
Size:
|
25,044 bases |
Orientation:
|
plus strand |
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Proteins
for C12orf65 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6 (See
protein sequence)Recommended Name: Probable peptide chain release factor C12orf65, mitochondrial precursor Size: 166 amino acids; 18828 Da
Subcellular location: Mitochondrion
Caution: In contrast to other members of the family, lacks the regions that come into close contact with the mRNA inthe ribosomal A-site and determine the STOP codon specificity, suggesting a loss of codon specificity for translationrelease factor activity
Secondary accessions: Q8WUC6Alternative splicing: 2 isoforms: Q9H3J6-1 Q9H3J6-2 Explore the universe of human proteins at neXtProt for C12orf65: NX_Q9H3J6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H3J6
C12orf65 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001137377.1 NP_001181924.1 NP_689482.1
ENSEMBL proteins: ENSP00000253233 ENSP00000443072 ENSP00000441796 ENSP00000444843 ENSP00000391513 ENSP00000390647
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
NAS | -- |
C12orf65 for ontologies About GeneDecksing
C12orf65 Antibody Products:
Assay Products for C12orf65: |
Protein
Domains /
Families
for C12orf65 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C12orf65 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H3J6ProtoNet protein and cluster: Q9H3J6 UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6Similarity: Belongs to the prokaryotic/mitochondrial release factor family |
Function
for C12orf65 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6Function: May act as a codon-independent translation release factor that has lost all stop codon specificity anddirects the termination of translation in mitochondrion (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf65 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf65 (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf65 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003747 | translation release factor activity |
IEA | -- |
C12orf65 for ontologies About GeneDecksing
|
Pathways & Interactions
for C12orf65 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C12orf65
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
4 Interacting proteins for C12orf65 (Q9H3J63 ENSP000002532334) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for C12orf65 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for C12orf65
Search CenterWatch for drugs/clinical trials and news about C12orf65 / CL065
|
Transcripts
for C12orf65 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for C12orf65 gene (3 alternative transcripts): NM_001143905.2 NM_001194995.1 NM_152269.4 Unigene Cluster for C12orf65: Chromosome 12 open reading frame 65 Hs.319128 [show with all ESTs]Unigene Representative Sequence: AK0959828 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000253233(uc001uen.3 uc001ueo.3) ENST00000538888 ENST00000425637
ENST00000536130 ENST00000546132 ENST00000543139 ENST00000429587 ENST00000366329(uc021rft.1 uc010tan.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf65 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf65 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): C12orf65 (NM_152269) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C12orf65 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf65 |
Additional cDNA sequence: AF061733.1 AK025908.1 AK095982.1 BC018145.1 BC062329.1 15 DOTS entries: DT.409940 DT.95163677 DT.121109031 DT.121108966 DT.91723902 DT.100024585 DT.100813359 DT.91965695 DT.100813360 DT.121108962 DT.91723890 DT.92452167 DT.95163678 DT.121108973 DT.91695275 24/151 AceView cDNA sequences (see all 151): AW007238 AI686673 AW630171 AI991987 AA693948 BF592978 AI262986 BM564488 CR612064 BE220427 AI745266 AA868983 BP870576 AI621052 BQ188813 BF109377 BU155948 AI656830 AI278155 AW613587 N89836 AI697566 AI097203 BQ277065
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf65 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | - | | | | | | |
| SP2: | | | | | | | - | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | | | - | | | | | | |
| SP4: | | | | | | | - | | - | | - | | - | | - | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C12orf65
|
Expression
for C12orf65 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| C12orf65 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTACTGCATA
About this image
See C12orf65 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf65
SOURCE GeneReport for Unigene cluster: Hs.319128
SABiosciences Custom PCR Arrays for C12orf65
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C12orf65
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C12orf65 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C12orf65 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf65 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf65 |
Orthologs
for C12orf65 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for C12orf65 gene from 6/22 species (see all 22) About this table
ENSEMBL Gene Tree for C12orf65 (if available)
TreeFam Gene Tree for C12orf65 (if available) |
Paralogs
for C12orf65 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C12orf65 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C12orf65 (123717463 - 123742506 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C12orf65
2 Indels: 71602 39938
Human Gene Mutation Database (HGMD): C12orf65
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C12orf65 |
|
Disorders
/ Diseases
for C12orf65 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
C12orf65 for disorders About GeneDecksing
OMIM gene information: 613541
OMIM disorders: 613559
UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6
Defects in C12orf65 are the cause of combined oxidative phosphorylation deficiency type 7 (COXPD7)[MIM:613559]. A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotordelay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness
8  diseases for C12orf65: About MalaCardscombined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 7 optic atrophy leigh disease
encephalomyopathy nystagmus ataxia malaria
1 disease from the University of Copenhagen DISEASES database for C12orf65:Optic atrophy Export disorders for C12orf65 gene to outside databases
|
Publications
for C12orf65 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for C12orf65 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C12orf65) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in C12orf65 in patients with encephalomyopa thy and a mitochondrial translation defect. (PubMed id 20598281)1, 2, 3 Antonicka H....Shoubridge E.A. (2010)
- A homozygous mutation of C12orf65 causes spastic parap legia with optic atrophy and neuropathy (SPG55). (PubMed id 23188110)1, 3 Shimazaki H....Nakano I. (2012)
- Evolution and diversification of the organellar releas e factor family. (PubMed id 22688947)1, 3 Duarte I....Huynen M. (2012)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)2 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
|
External Searches for C12orf65 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C12orf65 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C12orf65 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C12orf65 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for C12orf65 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C12orf65 gene:
Search GeneIP for patents involving C12orf65
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C12orf65 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C12orf65 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C12orf65 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf65 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C12orf65 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf65 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C12orf65 |
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 | | | C12orf65 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf65 |
|  |  |  | | | | Search ThermoFisher Antibodies for C12orf65 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf65 |
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