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Entry version 125 (17 Jun 2020)
Sequence version 3 (05 Apr 2011)
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Protein

Mitochondrial coiled-coil domain protein 1

Gene

MCCD1

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 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:
Mitochondrial coiled-coil domain protein 1
<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:MCCD1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000204511.2

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20668 MCCD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609624 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P59942

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
401250

Open Targets

More...
OpenTargetsi
ENSG00000204511

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134913652

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P59942 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MCCD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
327478572

<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 – 24MitochondrionSequence analysisAdd BLAST24
<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_000002165725 – 119Mitochondrial coiled-coil domain protein 1Add BLAST95

Proteomic databases

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

More...
PaxDbi
P59942

PeptideAtlas

More...
PeptideAtlasi
P59942

PRoteomics IDEntifications database

More...
PRIDEi
P59942

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
57173

<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

Widely expressed. Expressed in adult and fetal liver, kidney and lung. Expressed in fetal brain. Weakly expressed in fetal spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204511 Expressed in adult mammalian kidney and 11 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P59942 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000204511 Tissue enriched (kidney)

<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%27">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
134995, 3 interactors

Protein interaction database and analysis system

More...
IntActi
P59942, 26 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000365362

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P59942 protein

<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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili62 – 116Sequence analysisAdd BLAST55

Keywords - Domaini

Coiled coil, Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410J49N Eukaryota
ENOG4111EDX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014268

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_2249255_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P59942

Identification of Orthologs from Complete Genome Data

More...
OMAi
GSWRCCS

Database of Orthologous Groups

More...
OrthoDBi
1564098at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P59942

TreeFam database of animal gene trees

More...
TreeFami
TF340465

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR031438 MCCD1

The PANTHER Classification System

More...
PANTHERi
PTHR37877 PTHR37877, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15707 MCCD1, 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>Sequencei

<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.

P59942-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVLPLPWLSR YHFLRLLLPS WSLAPQGSHG CCSQNPKASM EEQTSSRGNG
60 70 80 90 100
KMTSPPRGPG THRTAELARA EELLEQQLEL YQALLEGQEG AWEAQALVLK
110
IQKLKEQMRR HQESLGGGA
Length:119
Mass (Da):13,259
Last modified:April 5, 2011 - v3
<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:i0EA678C3DFC1C5AB
GO

Natural variant

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_01716142E → K1 PublicationCorresponds to variant dbSNP:rs2259435Ensembl.1
Natural variantiVAR_01716245S → N3 PublicationsCorresponds to variant dbSNP:rs3093983Ensembl.1
Natural variantiVAR_01716353T → M1 PublicationCorresponds to variant dbSNP:rs78957773Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
BN000141 mRNA Translation: CAD71139.1
BA000025 Genomic DNA No translation available.
AL663061 Genomic DNA No translation available.
AL662801 Genomic DNA No translation available.
BX248516 Genomic DNA No translation available.
BX682535 Genomic DNA No translation available.
CR753864 Genomic DNA No translation available.
CT009531 Genomic DNA No translation available.
BC132994 mRNA Translation: AAI32995.1
BC132996 mRNA Translation: AAI32997.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34396.1

NCBI Reference Sequences

More...
RefSeqi
NP_001011700.2, NM_001011700.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000376191; ENSP00000365362; ENSG00000204511
ENST00000383512; ENSP00000373004; ENSG00000206447
ENST00000421209; ENSP00000389666; ENSG00000226923
ENST00000422733; ENSP00000407020; ENSG00000226841
ENST00000424816; ENSP00000399197; ENSG00000225228
ENST00000430073; ENSP00000407581; ENSG00000228662
ENST00000443405; ENSP00000402555; ENSG00000238238
ENST00000452195; ENSP00000392250; ENSG00000231975

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
401250

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:401250

UCSC genome browser

More...
UCSCi
uc003ntp.2 human

Keywords - Coding sequence diversityi

Polymorphism

<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
BN000141 mRNA Translation: CAD71139.1
BA000025 Genomic DNA No translation available.
AL663061 Genomic DNA No translation available.
AL662801 Genomic DNA No translation available.
BX248516 Genomic DNA No translation available.
BX682535 Genomic DNA No translation available.
CR753864 Genomic DNA No translation available.
CT009531 Genomic DNA No translation available.
BC132994 mRNA Translation: AAI32995.1
BC132996 mRNA Translation: AAI32997.1
CCDSiCCDS34396.1
RefSeqiNP_001011700.2, NM_001011700.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi134995, 3 interactors
IntActiP59942, 26 interactors
STRINGi9606.ENSP00000365362

Polymorphism and mutation databases

BioMutaiMCCD1
DMDMi327478572

Proteomic databases

PaxDbiP59942
PeptideAtlasiP59942
PRIDEiP59942
ProteomicsDBi57173

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
48824 7 antibodies

Genome annotation databases

EnsembliENST00000376191; ENSP00000365362; ENSG00000204511
ENST00000383512; ENSP00000373004; ENSG00000206447
ENST00000421209; ENSP00000389666; ENSG00000226923
ENST00000422733; ENSP00000407020; ENSG00000226841
ENST00000424816; ENSP00000399197; ENSG00000225228
ENST00000430073; ENSP00000407581; ENSG00000228662
ENST00000443405; ENSP00000402555; ENSG00000238238
ENST00000452195; ENSP00000392250; ENSG00000231975
GeneIDi401250
KEGGihsa:401250
UCSCiuc003ntp.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
401250
DisGeNETi401250
EuPathDBiHostDB:ENSG00000204511.2

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MCCD1
HGNCiHGNC:20668 MCCD1
HPAiENSG00000204511 Tissue enriched (kidney)
MIMi609624 gene
neXtProtiNX_P59942
OpenTargetsiENSG00000204511
PharmGKBiPA134913652

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J49N Eukaryota
ENOG4111EDX LUCA
GeneTreeiENSGT00390000014268
HOGENOMiCLU_2249255_0_0_1
InParanoidiP59942
OMAiGSWRCCS
OrthoDBi1564098at2759
PhylomeDBiP59942
TreeFamiTF340465

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
401250 10 hits in 787 CRISPR screens

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

More...
GenomeRNAii
401250
PharosiP59942 Tdark

Protein Ontology

More...
PROi
PR:P59942
RNActiP59942 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204511 Expressed in adult mammalian kidney and 11 other tissues
ExpressionAtlasiP59942 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR031438 MCCD1
PANTHERiPTHR37877 PTHR37877, 1 hit
PfamiView protein in Pfam
PF15707 MCCD1, 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 nameiMCCD1_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: P59942
Secondary accession number(s): A2AB29
, A2RUP7, B0UZB2, Q7RTY2
<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, 2003
Last sequence update: April 5, 2011
Last modified: June 17, 2020
This is version 125 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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