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Protein

Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

Gene

MCCC1

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

Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-leucine degradation

This protein is involved in step 2 of the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Isovaleryl-CoA dehydrogenase, mitochondrial (IVD)
  2. Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1), Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2)
  3. Methylglutaconyl-CoA hydratase, mitochondrial (AUH)
This subpathway is part of the pathway L-leucine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA, the pathway L-leucine degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei163ATPBy similarity1
Binding sitei247ATPBy similarity1
Binding sitei282ATPBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei339By similarity1

<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 - Molecular functioni

GO - Biological processi

  • biotin metabolic process Source: Reactome
  • leucine catabolic process Source: ParkinsonsUK-UCL
  • protein heterooligomerization Source: ParkinsonsUK-UCL

<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>Keywordsi

Molecular functionLigase
LigandATP-binding, Biotin, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000078070-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
R-HSA-70895 Branched-chain amino acid catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00363;UER00861

<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_and_taxonomy_section">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:
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (EC:6.4.1.4)
Short name:
MCCase subunit alpha
Alternative name(s):
3-methylcrotonyl-CoA carboxylase 1
3-methylcrotonyl-CoA carboxylase biotin-containing subunit
3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:MCCC1
Synonyms:MCCA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000078070.11

Human Gene Nomenclature Database

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HGNCi
HGNC:6936 MCCC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609010 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96RQ3

<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; Source: COMPARTMENTS

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

3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
See also OMIM:210200
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_07248646G → E in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs199517715EnsemblClinVar.1
Natural variantiVAR_07248756N → K in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs1057520695Ensembl.1
Natural variantiVAR_07248865M → L in MCC1D. 1 Publication1
Natural variantiVAR_07728479Y → C in MCC1D. 1 Publication1
Natural variantiVAR_077285120S → F in MCC1D. 1 Publication1
Natural variantiVAR_072489123Q → H in MCC1D. 1 Publication1
Natural variantiVAR_072490125I → M in MCC1D. 1 Publication1
Natural variantiVAR_077286130G → S in MCC1D; clinically asymptomatic form. 1 PublicationCorresponds to variant dbSNP:rs202197951EnsemblClinVar.1
Natural variantiVAR_072491134E → K in MCC1D. 2 Publications1
Natural variantiVAR_072492160M → R in MCC1D. 1 Publication1
Natural variantiVAR_072493180G → V in MCC1D. 1 Publication1
Natural variantiVAR_072494187S → P in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs757362635EnsemblClinVar.1
Natural variantiVAR_077287209G → V in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs186209189Ensembl.1
Natural variantiVAR_072495232R → W in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs727504004EnsemblClinVar.1
Natural variantiVAR_072496268A → D in MCC1D. 1 Publication1
Natural variantiVAR_067197276C → R in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs773433541Ensembl.1
Natural variantiVAR_067198281R → Q in MCC1D. 3 PublicationsCorresponds to variant dbSNP:rs754437245EnsemblClinVar.1
Natural variantiVAR_072497288E → G in MCC1D; shows no residual activity. 2 PublicationsCorresponds to variant dbSNP:rs746500530EnsemblClinVar.1
Natural variantiVAR_012785289A → V in MCC1D; mild form. 2 PublicationsCorresponds to variant dbSNP:rs1326114075Ensembl.1
Natural variantiVAR_072498291A → V in MCC1D; associated with a reduction of wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs201041864EnsemblClinVar.1
Natural variantiVAR_012786325M → R in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs119103212EnsemblClinVar.1
Natural variantiVAR_077288366E → K in MCC1D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201386261Ensembl.1
Natural variantiVAR_072499372Q → P in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs755328329Ensembl.1
Natural variantiVAR_072500379G → D in MCC1D. 1 Publication1
Natural variantiVAR_072501379G → S in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs887877405Ensembl.1
Natural variantiVAR_072502380H → P in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs794727036EnsemblClinVar.1
Natural variantiVAR_077289383E → K in MCC1D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1333357031Ensembl.1
Natural variantiVAR_012787385R → S in MCC1D; severe form. 6 PublicationsCorresponds to variant dbSNP:rs119103213EnsemblClinVar.1
Natural variantiVAR_072503434I → M in MCC1D; shows some wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs376289130Ensembl.1
Natural variantiVAR_012788437L → P in MCC1D; severe form. 1 PublicationCorresponds to variant dbSNP:rs119103215EnsemblClinVar.1
Natural variantiVAR_072504439V → M in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs398124352EnsemblClinVar.1
Natural variantiVAR_077290444R → H in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs768785753Ensembl.1
Natural variantiVAR_072505460I → M in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs119103218EnsemblClinVar.1
Natural variantiVAR_012790532D → H in MCC1D; severe form. 2 PublicationsCorresponds to variant dbSNP:rs119103214EnsemblClinVar.1
Natural variantiVAR_012791535S → F in MCC1D; asymptomatic form. 2 PublicationsCorresponds to variant dbSNP:rs119103216EnsemblClinVar.1
Natural variantiVAR_072506566 – 567Missing in MCC1D. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
56922

MalaCards human disease database

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MalaCardsi
MCCC1
MIMi210200 phenotype

Open Targets

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OpenTargetsi
ENSG00000078070

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

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Orphaneti
6 3-methylcrotonyl-CoA carboxylase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30680

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00121 Biotin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MCCC1

Domain mapping of disease mutations (DMDM)

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DMDMi
108861983

<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 – 41Mitochondrion1 PublicationAdd BLAST41
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000283342 – 725Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrialAdd BLAST684

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei237N6-acetyllysineBy similarity1
Modified residuei494N6-acetyllysineBy similarity1
Modified residuei581N6-acetyllysine; alternateBy similarity1
Modified residuei581N6-succinyllysine; alternateBy similarity1
Modified residuei681N6-biotinyllysinePROSITE-ProRule annotationBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylated.By similarity

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96RQ3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96RQ3

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

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PaxDbi
Q96RQ3

PeptideAtlas

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PeptideAtlasi
Q96RQ3

PRoteomics IDEntifications database

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PRIDEi
Q96RQ3

ProteomicsDB human proteome resource

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ProteomicsDBi
78003

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96RQ3

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

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PhosphoSitePlusi
Q96RQ3

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q96RQ3

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000078070 Expressed in 218 organ(s), highest expression level in body of pancreas

CleanEx database of gene expression profiles

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CleanExi
HS_MCCC1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96RQ3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96RQ3 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA008310

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits (PubMed:17360195). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705).2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121249, 36 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96RQ3

Protein interaction database and analysis system

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IntActi
Q96RQ3, 12 interactors

Molecular INTeraction database

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MINTi
Q96RQ3

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265594

<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

Secondary structure

1725
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96RQ3

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

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SMRi
Q96RQ3

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q96RQ3

<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_and_domains_section">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>Domaini48 – 494Biotin carboxylationAdd BLAST447
Domaini167 – 364ATP-graspPROSITE-ProRule annotationAdd BLAST198
Domaini643 – 715Biotinyl-bindingPROSITE-ProRule annotationAdd BLAST73

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0238 Eukaryota
COG4770 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156941

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000008989

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000555

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96RQ3

KEGG Orthology (KO)

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KOi
K01968

Identification of Orthologs from Complete Genome Data

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OMAi
NVHTNFI

Database of Orthologous Groups

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OrthoDBi
EOG091G06RG

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96RQ3

TreeFam database of animal gene trees

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TreeFami
TF105650

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1490.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011761 ATP-grasp
IPR013815 ATP_grasp_subdomain_1
IPR005481 BC-like_N
IPR001882 Biotin_BS
IPR011764 Biotin_carboxylation_dom
IPR005482 Biotin_COase_C
IPR000089 Biotin_lipoyl
IPR005479 CbamoylP_synth_lsu-like_ATP-bd
IPR016185 PreATP-grasp_dom_sf
IPR011054 Rudment_hybrid_motif
IPR011053 Single_hybrid_motif

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02785 Biotin_carb_C, 1 hit
PF00289 Biotin_carb_N, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02786 CPSase_L_D2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00878 Biotin_carb_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51230 SSF51230, 1 hit
SSF51246 SSF51246, 1 hit
SSF52440 SSF52440, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50975 ATP_GRASP, 1 hit
PS50979 BC, 1 hit
PS00188 BIOTIN, 1 hit
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00867 CPSASE_2, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 8 potential isoforms that are computationally mapped.Show allAlign All

Q96RQ3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAASAVSVL LVAAERNRWH RLPSLLLPPR TWVWRQRTMK YTTATGRNIT
60 70 80 90 100
KVLIANRGEI ACRVMRTAKK LGVQTVAVYS EADRNSMHVD MADEAYSIGP
110 120 130 140 150
APSQQSYLSM EKIIQVAKTS AAQAIHPGCG FLSENMEFAE LCKQEGIIFI
160 170 180 190 200
GPPPSAIRDM GIKSTSKSIM AAAGVPVVEG YHGEDQSDQC LKEHARRIGY
210 220 230 240 250
PVMIKAVRGG GGKGMRIVRS EQEFQEQLES ARREAKKSFN DDAMLIEKFV
260 270 280 290 300
DTPRHVEVQV FGDHHGNAVY LFERDCSVQR RHQKIIEEAP APGIKSEVRK
310 320 330 340 350
KLGEAAVRAA KAVNYVGAGT VEFIMDSKHN FCFMEMNTRL QVEHPVTEMI
360 370 380 390 400
TGTDLVEWQL RIAAGEKIPL SQEEITLQGH AFEARIYAED PSNNFMPVAG
410 420 430 440 450
PLVHLSTPRA DPSTRIETGV RQGDEVSVHY DPMIAKLVVW AADRQAALTK
460 470 480 490 500
LRYSLRQYNI VGLHTNIDFL LNLSGHPEFE AGNVHTDFIP QHHKQLLLSR
510 520 530 540 550
KAAAKESLCQ AALGLILKEK AMTDTFTLQA HDQFSPFSSS SGRRLNISYT
560 570 580 590 600
RNMTLKDGKN NVAIAVTYNH DGSYSMQIED KTFQVLGNLY SEGDCTYLKC
610 620 630 640 650
SVNGVASKAK LIILENTIYL FSKEGSIEID IPVPKYLSSV SSQETQGGPL
660 670 680 690 700
APMTGTIEKV FVKAGDKVKA GDSLMVMIAM KMEHTIKSPK DGTVKKVFYR
710 720
EGAQANRHTP LVEFEEEESD KRESE
Length:725
Mass (Da):80,473
Last modified:May 30, 2006 - 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:iB84AD23806035A40
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHF7E9PHF7_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
616Annotation 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>
F5GYT8F5GYT8_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
575Annotation 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>
E9PG35E9PG35_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
598Annotation 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>
G5E9X5G5E9X5_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1 hCG_1811721
434Annotation 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>
F8WDI3F8WDI3_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
112Annotation 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>
F8WF46F8WF46_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
56Annotation 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>
F2Z3E2F2Z3E2_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
47Annotation 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>
F2Z2Z7F2Z2Z7_HUMAN
Methylcrotonoyl-CoA carboxylase sub...
MCCC1
61Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD92974 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti469F → L in AAK67986 (PubMed:11406611).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07248646G → E in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs199517715EnsemblClinVar.1
Natural variantiVAR_07248756N → K in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs1057520695Ensembl.1
Natural variantiVAR_07248865M → L in MCC1D. 1 Publication1
Natural variantiVAR_07728479Y → C in MCC1D. 1 Publication1
Natural variantiVAR_077285120S → F in MCC1D. 1 Publication1
Natural variantiVAR_072489123Q → H in MCC1D. 1 Publication1
Natural variantiVAR_072490125I → M in MCC1D. 1 Publication1
Natural variantiVAR_077286130G → S in MCC1D; clinically asymptomatic form. 1 PublicationCorresponds to variant dbSNP:rs202197951EnsemblClinVar.1
Natural variantiVAR_072491134E → K in MCC1D. 2 Publications1
Natural variantiVAR_072492160M → R in MCC1D. 1 Publication1
Natural variantiVAR_072493180G → V in MCC1D. 1 Publication1
Natural variantiVAR_072494187S → P in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs757362635EnsemblClinVar.1
Natural variantiVAR_077287209G → V in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs186209189Ensembl.1
Natural variantiVAR_072495232R → W in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs727504004EnsemblClinVar.1
Natural variantiVAR_072496268A → D in MCC1D. 1 Publication1
Natural variantiVAR_067197276C → R in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs773433541Ensembl.1
Natural variantiVAR_067198281R → Q in MCC1D. 3 PublicationsCorresponds to variant dbSNP:rs754437245EnsemblClinVar.1
Natural variantiVAR_072497288E → G in MCC1D; shows no residual activity. 2 PublicationsCorresponds to variant dbSNP:rs746500530EnsemblClinVar.1
Natural variantiVAR_012785289A → V in MCC1D; mild form. 2 PublicationsCorresponds to variant dbSNP:rs1326114075Ensembl.1
Natural variantiVAR_072498291A → V in MCC1D; associated with a reduction of wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs201041864EnsemblClinVar.1
Natural variantiVAR_012786325M → R in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs119103212EnsemblClinVar.1
Natural variantiVAR_077288366E → K in MCC1D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201386261Ensembl.1
Natural variantiVAR_072499372Q → P in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs755328329Ensembl.1
Natural variantiVAR_072500379G → D in MCC1D. 1 Publication1
Natural variantiVAR_072501379G → S in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs887877405Ensembl.1
Natural variantiVAR_072502380H → P in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs794727036EnsemblClinVar.1
Natural variantiVAR_077289383E → K in MCC1D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1333357031Ensembl.1
Natural variantiVAR_012787385R → S in MCC1D; severe form. 6 PublicationsCorresponds to variant dbSNP:rs119103213EnsemblClinVar.1
Natural variantiVAR_072503434I → M in MCC1D; shows some wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs376289130Ensembl.1
Natural variantiVAR_012788437L → P in MCC1D; severe form. 1 PublicationCorresponds to variant dbSNP:rs119103215EnsemblClinVar.1
Natural variantiVAR_072504439V → M in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs398124352EnsemblClinVar.1
Natural variantiVAR_077290444R → H in MCC1D. 1 PublicationCorresponds to variant dbSNP:rs768785753Ensembl.1
Natural variantiVAR_072505460I → M in MCC1D. 2 PublicationsCorresponds to variant dbSNP:rs119103218EnsemblClinVar.1
Natural variantiVAR_012789464H → P5 PublicationsCorresponds to variant dbSNP:rs2270968EnsemblClinVar.1
Natural variantiVAR_012790532D → H in MCC1D; severe form. 2 PublicationsCorresponds to variant dbSNP:rs119103214EnsemblClinVar.1
Natural variantiVAR_012791535S → F in MCC1D; asymptomatic form. 2 PublicationsCorresponds to variant dbSNP:rs119103216EnsemblClinVar.1
Natural variantiVAR_038631560N → T. Corresponds to variant dbSNP:rs35219417Ensembl.1
Natural variantiVAR_072506566 – 567Missing in MCC1D. 1 Publication2
Natural variantiVAR_079752632P → S1 PublicationCorresponds to variant dbSNP:rs142867987EnsemblClinVar.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
AF310972 mRNA Translation: AAG53095.1
AB029826 mRNA Translation: BAA99407.1
AF297332 mRNA Translation: AAK67986.1
AF310339 mRNA Translation: AAG50245.1
AK023051 mRNA Translation: BAB14377.1
AB209737 mRNA Translation: BAD92974.1 Different initiation.
BC004214 mRNA Translation: AAH04214.1
BC004187 mRNA Translation: AAH04187.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3241.1

NCBI Reference Sequences

More...
RefSeqi
NP_001280202.1, NM_001293273.1
NP_064551.3, NM_020166.4

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.47649

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265594; ENSP00000265594; ENSG00000078070

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
56922

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56922

UCSC genome browser

More...
UCSCi
uc003fle.4 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
AF310972 mRNA Translation: AAG53095.1
AB029826 mRNA Translation: BAA99407.1
AF297332 mRNA Translation: AAK67986.1
AF310339 mRNA Translation: AAG50245.1
AK023051 mRNA Translation: BAB14377.1
AB209737 mRNA Translation: BAD92974.1 Different initiation.
BC004214 mRNA Translation: AAH04214.1
BC004187 mRNA Translation: AAH04187.1
CCDSiCCDS3241.1
RefSeqiNP_001280202.1, NM_001293273.1
NP_064551.3, NM_020166.4
UniGeneiHs.47649

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EJMNMR-A640-725[»]
ProteinModelPortaliQ96RQ3
SMRiQ96RQ3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121249, 36 interactors
CORUMiQ96RQ3
IntActiQ96RQ3, 12 interactors
MINTiQ96RQ3
STRINGi9606.ENSP00000265594

Chemistry databases

DrugBankiDB00121 Biotin

PTM databases

iPTMnetiQ96RQ3
PhosphoSitePlusiQ96RQ3
SwissPalmiQ96RQ3

Polymorphism and mutation databases

BioMutaiMCCC1
DMDMi108861983

Proteomic databases

EPDiQ96RQ3
MaxQBiQ96RQ3
PaxDbiQ96RQ3
PeptideAtlasiQ96RQ3
PRIDEiQ96RQ3
ProteomicsDBi78003

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265594; ENSP00000265594; ENSG00000078070
GeneIDi56922
KEGGihsa:56922
UCSCiuc003fle.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56922
DisGeNETi56922
EuPathDBiHostDB:ENSG00000078070.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MCCC1
HGNCiHGNC:6936 MCCC1
HPAiHPA008310
MalaCardsiMCCC1
MIMi210200 phenotype
609010 gene
neXtProtiNX_Q96RQ3
OpenTargetsiENSG00000078070
Orphaneti6 3-methylcrotonyl-CoA carboxylase deficiency
PharmGKBiPA30680

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0238 Eukaryota
COG4770 LUCA
GeneTreeiENSGT00940000156941
HOGENOMiHOG000008989
HOVERGENiHBG000555
InParanoidiQ96RQ3
KOiK01968
OMAiNVHTNFI
OrthoDBiEOG091G06RG
PhylomeDBiQ96RQ3
TreeFamiTF105650

Enzyme and pathway databases

UniPathwayi
UPA00363;UER00861

BioCyciMetaCyc:ENSG00000078070-MONOMER
ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
R-HSA-70895 Branched-chain amino acid catabolism

Miscellaneous databases

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

More...
ChiTaRSi
MCCC1 human
EvolutionaryTraceiQ96RQ3

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

More...
GenomeRNAii
56922

Protein Ontology

More...
PROi
PR:Q96RQ3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000078070 Expressed in 218 organ(s), highest expression level in body of pancreas
CleanExiHS_MCCC1
ExpressionAtlasiQ96RQ3 baseline and differential
GenevisibleiQ96RQ3 HS

Family and domain databases

Gene3Di3.30.1490.20, 1 hit
InterProiView protein in InterPro
IPR011761 ATP-grasp
IPR013815 ATP_grasp_subdomain_1
IPR005481 BC-like_N
IPR001882 Biotin_BS
IPR011764 Biotin_carboxylation_dom
IPR005482 Biotin_COase_C
IPR000089 Biotin_lipoyl
IPR005479 CbamoylP_synth_lsu-like_ATP-bd
IPR016185 PreATP-grasp_dom_sf
IPR011054 Rudment_hybrid_motif
IPR011053 Single_hybrid_motif
PfamiView protein in Pfam
PF02785 Biotin_carb_C, 1 hit
PF00289 Biotin_carb_N, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02786 CPSase_L_D2, 1 hit
SMARTiView protein in SMART
SM00878 Biotin_carb_C, 1 hit
SUPFAMiSSF51230 SSF51230, 1 hit
SSF51246 SSF51246, 1 hit
SSF52440 SSF52440, 1 hit
PROSITEiView protein in PROSITE
PS50975 ATP_GRASP, 1 hit
PS50979 BC, 1 hit
PS00188 BIOTIN, 1 hit
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00867 CPSASE_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiMCCA_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: Q96RQ3
Secondary accession number(s): Q59ES4, Q9H959, Q9NS97
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: May 30, 2006
Last modified: December 5, 2018
This is version 194 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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