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UniProtKB - Q8WYQ3 (CHC10_HUMAN)
Protein
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
Gene
CHCHD10
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.
1 PublicationGO - Biological processi
- maintenance of protein location in nucleus Source: UniProtKB
- maintenance of synapse structure Source: UniProtKB
- mitochondrial nucleoid organization Source: UniProtKB
- mitochondria-nucleus signaling pathway Source: Ensembl
- mitochondrion organization Source: UniProtKB
- oxidative phosphorylation Source: BHF-UCL
- positive regulation of cristae formation Source: UniProtKB
- positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Source: UniProtKB
- positive regulation of mitochondrial transcription Source: UniProtKB
- protein-containing complex assembly Source: UniProtKB
- stabilization of membrane potential Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8WYQ3 |
Reactomei | R-HSA-1268020, Mitochondrial protein import |
SignaLinki | Q8WYQ3 |
Names & Taxonomyi
Protein namesi | Recommended name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrialAlternative name(s): Protein N27C7-4 |
Gene namesi | Name:CHCHD10 Synonyms:C22orf16 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15559, CHCHD10 |
MIMi | 615903, gene |
neXtProti | NX_Q8WYQ3 |
VEuPathDBi | HostDB:ENSG00000250479 |
Subcellular locationi
Mitochondrion
- Mitochondrion intermembrane space 1 Publication
Note: Enriched at the cristae junctions.1 Publication
Mitochondrion
- MICOS complex Source: UniProtKB
- mitochondrial intermembrane space Source: UniProtKB
- mitochondrion Source: BHF-UCL
Nucleus
- nucleus Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)2 Publications
The disease is caused by variants affecting the gene represented in this entry. The pathological events leading to disease involve fragmentation of the mitochondrial network, mitochondrial ultrastructural abnormalities including loss, disorganization and dilatation of cristae, and mitochondrial dysfunction associated with respiratory chain deficiency (PubMed:24934289).1 Publication
Disease descriptionA neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071805 | 34 | P → S in FTDALS2. 1 PublicationCorresponds to variant dbSNP:rs551521196EnsemblClinVar. | 1 | |
Natural variantiVAR_071806 | 59 | S → L in FTDALS2; results in disorganization of mitochondrial cristae. 1 PublicationCorresponds to variant dbSNP:rs587777574EnsemblClinVar. | 1 |
Spinal muscular atrophy, Jokela type (SMAJ)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073285 | 66 | G → V in SMAJ. 1 PublicationCorresponds to variant dbSNP:rs730880031EnsemblClinVar. | 1 |
Myopathy, isolated mitochondrial, autosomal dominant (IMMD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073283 | 15 | R → S in IMMD; associated in cis with R-58 in a IMMD family; unknown pathological significance; does not affect mitochondrial structure and organization. 1 PublicationCorresponds to variant dbSNP:rs730880032EnsemblClinVar. | 1 | |
Natural variantiVAR_073284 | 58 | G → R in IMMD; associated in cis with S-15 in a IMMD family; causes mitochondrial fragmentation. 1 PublicationCorresponds to variant dbSNP:rs730880033EnsemblClinVar. | 1 |
Keywords - Diseasei
Amyotrophic lateral sclerosis, Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 400916 |
GeneReviewsi | CHCHD10 |
MalaCardsi | CHCHD10 |
MIMi | 615048, phenotype 615911, phenotype 616209, phenotype |
OpenTargetsi | ENSG00000250479 |
Orphaneti | 803, Amyotrophic lateral sclerosis 457050, Autosomal dominant mitochondrial myopathy with exercise intolerance 275872, Frontotemporal dementia with motor neuron disease 276435, Lower motor neuron syndrome with late-adult onset |
PharmGKBi | PA162382225 |
Miscellaneous databases
Pharosi | Q8WYQ3, Tbio |
Genetic variation databases
BioMutai | CHCHD10 |
DMDMi | 74731006 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 16 | MitochondrionSequence analysisAdd BLAST | 16 | |
ChainiPRO_0000254038 | 17 – 142 | Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrialAdd BLAST | 126 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 102 ↔ 132 | PROSITE-ProRule annotation | ||
Disulfide bondi | 112 ↔ 122 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bondProteomic databases
EPDi | Q8WYQ3 |
jPOSTi | Q8WYQ3 |
MassIVEi | Q8WYQ3 |
MaxQBi | Q8WYQ3 |
PaxDbi | Q8WYQ3 |
PeptideAtlasi | Q8WYQ3 |
PRIDEi | Q8WYQ3 |
ProteomicsDBi | 75185 |
PTM databases
iPTMneti | Q8WYQ3 |
PhosphoSitePlusi | Q8WYQ3 |
Expressioni
Tissue specificityi
Ubiquitously expressed. Higher expression is observed in heart and liver.1 Publication
Gene expression databases
Bgeei | ENSG00000250479, Expressed in left ventricle myocardium and 210 other tissues |
ExpressionAtlasi | Q8WYQ3, baseline and differential |
Genevisiblei | Q8WYQ3, HS |
Organism-specific databases
HPAi | ENSG00000250479, Tissue enhanced (heart muscle, skeletal muscle) |
Interactioni
Binary interactionsi
Protein-protein interaction databases
BioGRIDi | 134810, 84 interactors |
IntActi | Q8WYQ3, 97 interactors |
STRINGi | 9606.ENSP00000418428 |
Miscellaneous databases
RNActi | Q8WYQ3, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q8WYQ3 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 99 – 140 | CHCHPROSITE-ProRule annotationAdd BLAST | 42 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 45 | DisorderedSequence analysisAdd BLAST | 45 | |
Regioni | 68 – 97 | DisorderedSequence analysisAdd BLAST | 30 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 102 – 112 | Cx9C motif 1PROSITE-ProRule annotationAdd BLAST | 11 | |
Motifi | 122 – 132 | Cx9C motif 2PROSITE-ProRule annotationAdd BLAST | 11 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 17 – 36 | Pro residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 71 – 86 | Polar residuesSequence analysisAdd BLAST | 16 |
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG4090, Eukaryota |
GeneTreei | ENSGT00940000161345 |
HOGENOMi | CLU_093520_2_2_1 |
InParanoidi | Q8WYQ3 |
OMAi | CKYSHGV |
OrthoDBi | 1611117at2759 |
PhylomeDBi | Q8WYQ3 |
TreeFami | TF318060 |
Family and domain databases
InterProi | View protein in InterPro IPR010625, CHCH |
Pfami | View protein in Pfam PF06747, CHCH, 1 hit |
PROSITEi | View protein in PROSITE PS51808, CHCH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q8WYQ3-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPRGSRSAAS RPASRPAAPS AHPPAHPPPS AAAPAPAPSG QPGLMAQMAT
60 70 80 90 100
TAAGVAVGSA VGHVMGSALT GAFSGGSSEP SQPAVQQAPT PAAPQPLQMG
110 120 130 140
PCAYEIRQFL DCSTTQSDLS LCEGFSEALK QCKYYHGLSS LP
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB5MBW9 | B5MBW9_HUMAN | Coiled-coil-helix-coiled-coil-helix... | CHCHD10 | 149 | Annotation score: | ||
E5RH03 | E5RH03_HUMAN | Coiled-coil-helix-coiled-coil-helix... | CHCHD10 | 55 | Annotation score: | ||
E5RGN4 | E5RGN4_HUMAN | Coiled-coil-helix-coiled-coil-helix... | CHCHD10 | 99 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073283 | 15 | R → S in IMMD; associated in cis with R-58 in a IMMD family; unknown pathological significance; does not affect mitochondrial structure and organization. 1 PublicationCorresponds to variant dbSNP:rs730880032EnsemblClinVar. | 1 | |
Natural variantiVAR_071805 | 34 | P → S in FTDALS2. 1 PublicationCorresponds to variant dbSNP:rs551521196EnsemblClinVar. | 1 | |
Natural variantiVAR_073284 | 58 | G → R in IMMD; associated in cis with S-15 in a IMMD family; causes mitochondrial fragmentation. 1 PublicationCorresponds to variant dbSNP:rs730880033EnsemblClinVar. | 1 | |
Natural variantiVAR_071806 | 59 | S → L in FTDALS2; results in disorganization of mitochondrial cristae. 1 PublicationCorresponds to variant dbSNP:rs587777574EnsemblClinVar. | 1 | |
Natural variantiVAR_073285 | 66 | G → V in SMAJ. 1 PublicationCorresponds to variant dbSNP:rs730880031EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB050774 Genomic DNA Translation: BAB83036.1 AK289560 mRNA Translation: BAF82249.1 CH471095 Genomic DNA Translation: EAW59602.1 BC065232 mRNA Translation: AAH65232.1 |
CCDSi | CCDS13815.1 |
RefSeqi | NP_001288268.1, NM_001301339.1 NP_998885.1, NM_213720.2 |
Genome annotation databases
Ensembli | ENST00000484558.3; ENSP00000418428.3; ENSG00000250479.9 ENST00000629095.1; ENSP00000487006.1; ENSG00000273607.3 |
GeneIDi | 400916 |
KEGGi | hsa:400916 |
MANE-Selecti | ENST00000484558.3; ENSP00000418428.3; NM_213720.3; NP_998885.1 |
UCSCi | uc002zxw.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB050774 Genomic DNA Translation: BAB83036.1 AK289560 mRNA Translation: BAF82249.1 CH471095 Genomic DNA Translation: EAW59602.1 BC065232 mRNA Translation: AAH65232.1 |
CCDSi | CCDS13815.1 |
RefSeqi | NP_001288268.1, NM_001301339.1 NP_998885.1, NM_213720.2 |
3D structure databases
AlphaFoldDBi | Q8WYQ3 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 134810, 84 interactors |
IntActi | Q8WYQ3, 97 interactors |
STRINGi | 9606.ENSP00000418428 |
PTM databases
iPTMneti | Q8WYQ3 |
PhosphoSitePlusi | Q8WYQ3 |
Genetic variation databases
BioMutai | CHCHD10 |
DMDMi | 74731006 |
Proteomic databases
EPDi | Q8WYQ3 |
jPOSTi | Q8WYQ3 |
MassIVEi | Q8WYQ3 |
MaxQBi | Q8WYQ3 |
PaxDbi | Q8WYQ3 |
PeptideAtlasi | Q8WYQ3 |
PRIDEi | Q8WYQ3 |
ProteomicsDBi | 75185 |
Protocols and materials databases
Antibodypediai | 48878, 105 antibodies from 20 providers |
DNASUi | 400916 |
Genome annotation databases
Ensembli | ENST00000484558.3; ENSP00000418428.3; ENSG00000250479.9 ENST00000629095.1; ENSP00000487006.1; ENSG00000273607.3 |
GeneIDi | 400916 |
KEGGi | hsa:400916 |
MANE-Selecti | ENST00000484558.3; ENSP00000418428.3; NM_213720.3; NP_998885.1 |
UCSCi | uc002zxw.4, human |
Organism-specific databases
CTDi | 400916 |
DisGeNETi | 400916 |
GeneCardsi | CHCHD10 |
GeneReviewsi | CHCHD10 |
HGNCi | HGNC:15559, CHCHD10 |
HPAi | ENSG00000250479, Tissue enhanced (heart muscle, skeletal muscle) |
MalaCardsi | CHCHD10 |
MIMi | 615048, phenotype 615903, gene 615911, phenotype 616209, phenotype |
neXtProti | NX_Q8WYQ3 |
OpenTargetsi | ENSG00000250479 |
Orphaneti | 803, Amyotrophic lateral sclerosis 457050, Autosomal dominant mitochondrial myopathy with exercise intolerance 275872, Frontotemporal dementia with motor neuron disease 276435, Lower motor neuron syndrome with late-adult onset |
PharmGKBi | PA162382225 |
VEuPathDBi | HostDB:ENSG00000250479 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4090, Eukaryota |
GeneTreei | ENSGT00940000161345 |
HOGENOMi | CLU_093520_2_2_1 |
InParanoidi | Q8WYQ3 |
OMAi | CKYSHGV |
OrthoDBi | 1611117at2759 |
PhylomeDBi | Q8WYQ3 |
TreeFami | TF318060 |
Enzyme and pathway databases
PathwayCommonsi | Q8WYQ3 |
Reactomei | R-HSA-1268020, Mitochondrial protein import |
SignaLinki | Q8WYQ3 |
Miscellaneous databases
BioGRID-ORCSi | 400916, 27 hits in 1075 CRISPR screens |
ChiTaRSi | CHCHD10, human |
GenomeRNAii | 400916 |
Pharosi | Q8WYQ3, Tbio |
PROi | PR:Q8WYQ3 |
RNActi | Q8WYQ3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000250479, Expressed in left ventricle myocardium and 210 other tissues |
ExpressionAtlasi | Q8WYQ3, baseline and differential |
Genevisiblei | Q8WYQ3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR010625, CHCH |
Pfami | View protein in Pfam PF06747, CHCH, 1 hit |
PROSITEi | View protein in PROSITE PS51808, CHCH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CHC10_HUMAN | |
Accessioni | Q8WYQ3Primary (citable) accession number: Q8WYQ3 Secondary accession number(s): A8K0J5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | March 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 134 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot