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Protein

Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial

Gene

CHCHD10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.1 Publication

GO - Biological processi

  • ATP biosynthetic process Source: BHF-UCL
  • mitochondrion organization Source: UniProtKB
  • negative regulation of ATP citrate synthase activity Source: BHF-UCL
  • oxidative phosphorylation Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
Alternative name(s):
Protein N27C7-4
Gene namesi
Name:CHCHD10
Synonyms:C22orf16
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:15559. CHCHD10.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial intermembrane space Source: UniProtKB
  • mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)2 Publications
The disease is caused by mutations 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.
See also OMIM:615911
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341P → S in FTDALS2. 1 Publication
Corresponds to variant rs551521196 [ dbSNP | Ensembl ].
VAR_071805
Natural varianti59 – 591S → L in FTDALS2; results in disorganization of mitochondrial cristae. 1 Publication
Corresponds to variant rs587777574 [ dbSNP | Ensembl ].
VAR_071806
Spinal muscular atrophy, Jokela type (SMAJ)1 Publication
The disease is caused by mutations 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.
See also OMIM:615048
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661G → V in SMAJ. 1 Publication
Corresponds to variant rs730880031 [ dbSNP | Ensembl ].
VAR_073285
Myopathy, isolated mitochondrial, autosomal dominant (IMMD)1 Publication
The disease is caused by mutations 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.
See also OMIM:616209
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151R → S in IMMD; associated in cis with R-58 in a IMMD family; unknown pathological significance; does not affect mitochondrial structure and organization. 1 Publication
Corresponds to variant rs730880032 [ dbSNP | Ensembl ].
VAR_073283
Natural varianti58 – 581G → R in IMMD; associated in cis with S-15 in a IMMD family; causes mitochondrial fragmentation. 1 Publication
Corresponds to variant rs730880033 [ dbSNP | Ensembl ].
VAR_073284

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

MalaCardsiCHCHD10.
MIMi615048. phenotype.
615911. phenotype.
616209. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
275872. Frontotemporal dementia with motor neuron disease.
PharmGKBiPA162382225.

Polymorphism and mutation databases

BioMutaiCHCHD10.
DMDMi74731006.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1616MitochondrionSequence analysisAdd
BLAST
Chaini17 – 142126Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrialPRO_0000254038Add
BLAST

Proteomic databases

MaxQBiQ8WYQ3.
PaxDbiQ8WYQ3.
PeptideAtlasiQ8WYQ3.
PRIDEiQ8WYQ3.

PTM databases

PhosphoSiteiQ8WYQ3.

Expressioni

Tissue specificityi

Ubiquitously expressed. Higher expression is observed in heart and liver.1 Publication

Gene expression databases

BgeeiENSG00000250479.
CleanExiHS_CHCHD10.
ExpressionAtlasiQ8WYQ3. baseline and differential.
GenevisibleiQ8WYQ3. HS.

Organism-specific databases

HPAiHPA003440.

Interactioni

Protein-protein interaction databases

BioGridi134810. 31 interactions.
STRINGi9606.ENSP00000418428.

Structurei

3D structure databases

ProteinModelPortaliQ8WYQ3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini95 – 13541CHCHAdd
BLAST

Sequence similaritiesi

Contains 1 CHCH domain.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4090. Eukaryota.
ENOG41126E7. LUCA.
GeneTreeiENSGT00440000038159.
HOGENOMiHOG000194088.
HOVERGENiHBG059852.
InParanoidiQ8WYQ3.
PhylomeDBiQ8WYQ3.
TreeFamiTF318060.

Family and domain databases

InterProiIPR010625. CHCH.
[Graphical view]
PfamiPF06747. CHCH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8WYQ3-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:142
Mass (Da):14,149
Last modified:March 1, 2002 - v1
Checksum:iA3AA3894CBEC0137
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151R → S in IMMD; associated in cis with R-58 in a IMMD family; unknown pathological significance; does not affect mitochondrial structure and organization. 1 Publication
Corresponds to variant rs730880032 [ dbSNP | Ensembl ].
VAR_073283
Natural varianti34 – 341P → S in FTDALS2. 1 Publication
Corresponds to variant rs551521196 [ dbSNP | Ensembl ].
VAR_071805
Natural varianti58 – 581G → R in IMMD; associated in cis with S-15 in a IMMD family; causes mitochondrial fragmentation. 1 Publication
Corresponds to variant rs730880033 [ dbSNP | Ensembl ].
VAR_073284
Natural varianti59 – 591S → L in FTDALS2; results in disorganization of mitochondrial cristae. 1 Publication
Corresponds to variant rs587777574 [ dbSNP | Ensembl ].
VAR_071806
Natural varianti66 – 661G → V in SMAJ. 1 Publication
Corresponds to variant rs730880031 [ dbSNP | Ensembl ].
VAR_073285

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.
CCDSiCCDS13815.1.
RefSeqiNP_001288268.1. NM_001301339.1.
NP_998885.1. NM_213720.2.
UniGeneiHs.66915.

Genome annotation databases

EnsembliENST00000484558; ENSP00000418428; ENSG00000250479.
ENST00000629095; ENSP00000487006; ENSG00000273607.
GeneIDi400916.
KEGGihsa:400916.
UCSCiuc002zxw.4. human.

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.
CCDSiCCDS13815.1.
RefSeqiNP_001288268.1. NM_001301339.1.
NP_998885.1. NM_213720.2.
UniGeneiHs.66915.

3D structure databases

ProteinModelPortaliQ8WYQ3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi134810. 31 interactions.
STRINGi9606.ENSP00000418428.

PTM databases

PhosphoSiteiQ8WYQ3.

Polymorphism and mutation databases

BioMutaiCHCHD10.
DMDMi74731006.

Proteomic databases

MaxQBiQ8WYQ3.
PaxDbiQ8WYQ3.
PeptideAtlasiQ8WYQ3.
PRIDEiQ8WYQ3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000484558; ENSP00000418428; ENSG00000250479.
ENST00000629095; ENSP00000487006; ENSG00000273607.
GeneIDi400916.
KEGGihsa:400916.
UCSCiuc002zxw.4. human.

Organism-specific databases

CTDi400916.
GeneCardsiCHCHD10.
HGNCiHGNC:15559. CHCHD10.
HPAiHPA003440.
MalaCardsiCHCHD10.
MIMi615048. phenotype.
615903. gene.
615911. phenotype.
616209. phenotype.
neXtProtiNX_Q8WYQ3.
Orphaneti803. Amyotrophic lateral sclerosis.
275872. Frontotemporal dementia with motor neuron disease.
PharmGKBiPA162382225.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4090. Eukaryota.
ENOG41126E7. LUCA.
GeneTreeiENSGT00440000038159.
HOGENOMiHOG000194088.
HOVERGENiHBG059852.
InParanoidiQ8WYQ3.
PhylomeDBiQ8WYQ3.
TreeFamiTF318060.

Miscellaneous databases

ChiTaRSiCHCHD10. human.
GenomeRNAii400916.
PROiQ8WYQ3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000250479.
CleanExiHS_CHCHD10.
ExpressionAtlasiQ8WYQ3. baseline and differential.
GenevisibleiQ8WYQ3. HS.

Family and domain databases

InterProiIPR010625. CHCH.
[Graphical view]
PfamiPF06747. CHCH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCHC10_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 100 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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.