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UniProtKB - Q8WYQ3 (CHC10_HUMAN)

Entry version 128 (02 Dec 2020)
Sequence version 1 (01 Mar 2002)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WYQ3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1268020, Mitochondrial protein import

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
Alternative name(s):
Protein N27C7-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CHCHD10
Synonyms:C22orf16
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000250479.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:15559, CHCHD10

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615903, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WYQ3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07180534P → S in FTDALS2. 1 PublicationCorresponds to variant dbSNP:rs551521196EnsemblClinVar.1
Natural variantiVAR_07180659S → 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 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07328566G → V in SMAJ. 1 PublicationCorresponds to variant dbSNP:rs730880031EnsemblClinVar.1
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07328315R → 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_07328458G → 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 mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		400916

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CHCHD10

MalaCards human disease database

More...MalaCardsi		CHCHD10
MIMi615048, phenotype
615911, phenotype
616209, phenotype

Open Targets

More...OpenTargetsi		ENSG00000250479

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162382225

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WYQ3, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHCHD10

Domain mapping of disease mutations (DMDM)

More...DMDMi		74731006

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 16MitochondrionSequence analysisAdd BLAST16
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000025403817 – 142Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrialAdd BLAST126

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi102 ↔ 132PROSITE-ProRule annotation
Disulfide bondi112 ↔ 122PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WYQ3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WYQ3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WYQ3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WYQ3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8WYQ3

PeptideAtlas

More...PeptideAtlasi		Q8WYQ3

PRoteomics IDEntifications database

More...PRIDEi		Q8WYQ3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75185

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WYQ3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8WYQ3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000250479, Expressed in left ventricle myocardium and 209 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WYQ3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WYQ3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000250479, Tissue enhanced (heart muscle, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		134810, 74 interactors

Protein interaction database and analysis system

More...IntActi		Q8WYQ3, 97 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000418428

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WYQ3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8WYQ3

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini99 – 140CHCHPROSITE-ProRule annotationAdd BLAST42

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi102 – 112Cx9C motif 1PROSITE-ProRule annotationAdd BLAST11
Motifi122 – 132Cx9C motif 2PROSITE-ProRule annotationAdd BLAST11

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4090, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161345

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_093520_2_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WYQ3

Database of Orthologous Groups

More...OrthoDBi		1611117at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WYQ3

TreeFam database of animal gene trees

More...TreeFami		TF318060

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010625, CHCH

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06747, CHCH, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51808, CHCH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA3AA3894CBEC0137
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MBW9B5MBW9_HUMAN
Coiled-coil-helix-coiled-coil-helix...
CHCHD10
149Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RH03E5RH03_HUMAN
Coiled-coil-helix-coiled-coil-helix...
CHCHD10
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RGN4E5RGN4_HUMAN
Coiled-coil-helix-coiled-coil-helix...
CHCHD10
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07328315R → 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_07180534P → S in FTDALS2. 1 PublicationCorresponds to variant dbSNP:rs551521196EnsemblClinVar.1
Natural variantiVAR_07328458G → 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_07180659S → L in FTDALS2; results in disorganization of mitochondrial cristae. 1 PublicationCorresponds to variant dbSNP:rs587777574EnsemblClinVar.1
Natural variantiVAR_07328566G → V in SMAJ. 1 PublicationCorresponds to variant dbSNP:rs730880031EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13815.1

NCBI Reference Sequences

More...RefSeqi		NP_001288268.1, NM_001301339.1
NP_998885.1, NM_213720.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000484558; ENSP00000418428; ENSG00000250479
ENST00000629095; ENSP00000487006; ENSG00000273607

Database of genes from NCBI RefSeq genomes

More...GeneIDi		400916

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:400916

UCSC genome browser

More...UCSCi		uc002zxw.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiQ8WYQ3
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi134810, 74 interactors
IntActiQ8WYQ3, 97 interactors
STRINGi9606.ENSP00000418428

PTM databases

iPTMnetiQ8WYQ3
PhosphoSitePlusiQ8WYQ3

Polymorphism and mutation databases

BioMutaiCHCHD10
DMDMi74731006

Proteomic databases

EPDiQ8WYQ3
jPOSTiQ8WYQ3
MassIVEiQ8WYQ3
MaxQBiQ8WYQ3
PaxDbiQ8WYQ3
PeptideAtlasiQ8WYQ3
PRIDEiQ8WYQ3
ProteomicsDBi75185

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		48878, 101 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		400916
DisGeNETi400916
EuPathDBiHostDB:ENSG00000250479.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHCHD10
GeneReviewsiCHCHD10
HGNCiHGNC:15559, CHCHD10
HPAiENSG00000250479, Tissue enhanced (heart muscle, skeletal muscle)
MalaCardsiCHCHD10
MIMi615048, phenotype
615903, gene
615911, phenotype
616209, phenotype
neXtProtiNX_Q8WYQ3
OpenTargetsiENSG00000250479
Orphaneti803, 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
PharmGKBiPA162382225

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4090, Eukaryota
GeneTreeiENSGT00940000161345
HOGENOMiCLU_093520_2_2_1
InParanoidiQ8WYQ3
OrthoDBi1611117at2759
PhylomeDBiQ8WYQ3
TreeFamiTF318060

Enzyme and pathway databases

PathwayCommonsiQ8WYQ3
ReactomeiR-HSA-1268020, Mitochondrial protein import

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		400916, 14 hits in 841 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CHCHD10, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		400916
PharosiQ8WYQ3, Tbio

Protein Ontology

More...PROi		PR:Q8WYQ3
RNActiQ8WYQ3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000250479, Expressed in left ventricle myocardium and 209 other tissues
ExpressionAtlasiQ8WYQ3, baseline and differential
GenevisibleiQ8WYQ3, HS

Family and domain databases

InterProiView protein in InterPro
IPR010625, CHCH
PfamiView protein in Pfam
PF06747, CHCH, 1 hit
PROSITEiView protein in PROSITE
PS51808, CHCH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCHC10_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WYQ3
Secondary accession number(s): A8K0J5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 1, 2002
Last modified: December 2, 2020
This is version 128 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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