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C12orf65

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GENERAL INFORMATION

Gene name

 C12orf65

Gene description

 Chromosome 12 open reading frame 65

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleus & cytosol. In addition localized to the mitochondria.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleus (approved), Cytosol (approved)

Additional location

 In addition localized to the Mitochondria (approved)

Single-cell variation

 Single-cell variation in protein expression observed.

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA057595
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleus & cytosol. In addition localized to the mitochondria.

Main location

 Nucleus (approved), Cytosol (approved)

Additional location

 Mitochondria (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA057595 A-431 Nucleus
Mitochondria Intensity
HPA057595 U-2 OS Cytosol
HPA057595 U-251 MG Nucleus
Cytosol

GENE INFORMATION

Gene name

 C12orf65 (HGNC Symbol)

Synonyms

 FLJ38663, SPG55

Description

 Chromosome 12 open reading frame 65 (HGNC Symbol)

Entrez gene 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]

Chromosome

 12

Cytoband

 q24.31

Chromosome location (bp)

 123232916 - 123257959

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130921 (version 83.38)

Entrez gene

 91574

UniProt

 Q9H3J6 (UniProt - Evidence at transcript level)

neXtProt

 NX_Q9H3J6

Antibodypedia

 C12orf65 antibodies

PROTEIN BROWSER
C12orf65-001
C12orf65-003
C12orf65-005
C12orf65-006
C12orf65-007
C12orf65-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
C12orf65-001
ENSP00000253233
ENST00000253233
Q9H3J6 [Direct mapping]
Probable peptide chain release factor C12orf65, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003747 [translation release factor activity]
GO:0004045 [aminoacyl-tRNA hydrolase activity]
GO:0005739 [mitochondrion]
GO:0005762 [mitochondrial large ribosomal subunit]
GO:0006415 [translational termination]
GO:0016150 [translation release factor activity, codon nonspecific]
GO:0043022 [ribosome binding]
GO:0070126 [mitochondrial translational termination]
GO:0072344 [rescue of stalled ribosome]
Show all
 166 aa
18.8 kDa 		No 0
C12orf65-003
ENSP00000444843
ENST00000543139
F5H4X5 [Direct mapping]
Probable peptide chain release factor C12orf65, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003747 [translation release factor activity]
GO:0006415 [translational termination]
Show all
 138 aa
15.4 kDa 		No 0
C12orf65-005
ENSP00000443072
ENST00000536130
F5H5V8 [Direct mapping]
Probable peptide chain release factor C12orf65, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 36 aa
4 kDa 		No 0
C12orf65-006
ENSP00000441796
ENST00000546132
F5GWJ6 [Direct mapping]
Probable peptide chain release factor C12orf65, mitochondrial
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003747 [translation release factor activity]
GO:0006415 [translational termination]
Show all
 96 aa
10.4 kDa 		No 0
C12orf65-007
ENSP00000391513
ENST00000429587
Q9H3J6 [Direct mapping]
Probable peptide chain release factor C12orf65, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003747 [translation release factor activity]
GO:0004045 [aminoacyl-tRNA hydrolase activity]
GO:0005739 [mitochondrion]
GO:0005762 [mitochondrial large ribosomal subunit]
GO:0006415 [translational termination]
GO:0016150 [translation release factor activity, codon nonspecific]
GO:0043022 [ribosome binding]
GO:0070126 [mitochondrial translational termination]
GO:0072344 [rescue of stalled ribosome]
Show all
 166 aa
18.8 kDa 		No 0
C12orf65-201
ENSP00000390647
ENST00000366329
Q9H3J6 [Direct mapping]
Probable peptide chain release factor C12orf65, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003747 [translation release factor activity]
GO:0004045 [aminoacyl-tRNA hydrolase activity]
GO:0005739 [mitochondrion]
GO:0005762 [mitochondrial large ribosomal subunit]
GO:0006415 [translational termination]
GO:0016150 [translation release factor activity, codon nonspecific]
GO:0043022 [ribosome binding]
GO:0070126 [mitochondrial translational termination]
GO:0072344 [rescue of stalled ribosome]
Show all
 166 aa
18.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.