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CHCHD3

GENERAL INFORMATION

Gene name

 CHCHD3

Gene description

 Coiled-coil-helix-coiled-coil-helix domain containing 3

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA042935
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 CHCHD3 (HGNC Symbol)

Synonyms

 FLJ20420, Mic19, MINOS3, PPP1R22

Description

 Coiled-coil-helix-coiled-coil-helix domain containing 3 (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Chromosome

 7

Cytoband

Chromosome location (bp)

 132784868 - 133082088

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000106554 (version 83.38)

Entrez gene

 54927

UniProt

 Q9NX63 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NX63

Antibodypedia

 CHCHD3 antibodies

PROTEIN BROWSER
CHCHD3-001
CHCHD3-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CHCHD3-001
ENSP00000262570
ENST00000262570
Q9NX63 [Direct mapping]
MICOS complex subunit MIC19
A4D1N4 [Target identity:100%; Query identity:100%]
Coiled-coil-helix-coiled-coil-helix domain containing 3; Coiled-coil-helix-coiled-coil-helix domain containing 3, isoform CRA_d
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0006351 [transcription, DNA-templated]
GO:0007007 [inner mitochondrial membrane organization]
GO:0008053 [mitochondrial fusion]
GO:0019902 [phosphatase binding]
GO:0032947 [protein complex scaffold]
GO:0042407 [cristae formation]
GO:0061617 [MICOS complex]
GO:0070062 [extracellular exosome]
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 227 aa
26.2 kDa 		No 0
CHCHD3-003
ENSP00000389297
ENST00000448878
C9JRZ6 [Direct mapping]
MICOS complex subunit MIC19
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005739 [mitochondrion]
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 232 aa
26.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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