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Entry version 120 (18 Sep 2019)
Sequence version 3 (18 May 2010)
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Protein

Malonate--CoA ligase ACSF3, mitochondrial

Gene

ACSF3

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

Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21846720, PubMed:21841779). May have some preference toward very-long-chain substrates (PubMed:17762044).3 Publications

<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 describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=36.8 µM for malonate1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei457ATPBy similarity1
    Binding sitei471ATPBy similarity1
    Binding sitei563ATPBy similarity1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi202 – 210ATPBy similarity9

    <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

    <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
    Biological processFatty acid metabolism, Lipid metabolism
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000541

    <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:
    Malonate--CoA ligase ACSF3, mitochondrialCurated (EC:6.2.1.n31 Publication)
    Alternative name(s):
    Acyl-CoA synthetase family member 3
    <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:ACSF3Imported
    ORF Names:PSEC0197
    <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 16

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:27288 ACSF3

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    614245 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q4G176

    <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

    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

    Combined malonic and methylmalonic aciduria (CMAMMA)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.
    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_066504198M → R in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs387907121EnsemblClinVar.1
    Natural variantiVAR_066505243P → L in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs140986055EnsemblClinVar.1
    Natural variantiVAR_066506358T → I in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs387907120EnsemblClinVar.1
    Natural variantiVAR_066507359E → K in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs150487794EnsemblClinVar.1
    Natural variantiVAR_066508462K → T in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs1362504214Ensembl.1
    Natural variantiVAR_066509465 – 470Missing in CMAMMA. 1 Publication6
    Natural variantiVAR_066510471R → Q in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs387907119EnsemblClinVar.1
    Natural variantiVAR_066511471R → W in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs138680796EnsemblClinVar.1
    Natural variantiVAR_066512480G → S in CMAMMA. 1 Publication1
    Natural variantiVAR_066513558R → W in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs141090143EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi354R → A: Impairs malonyl-CoA synthase activity. 1 Publication1
    Mutagenesisi354R → L: Impairs malonyl-CoA synthase activity. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    197322

    MalaCards human disease database

    More...
    MalaCardsi
    ACSF3
    MIMi614265 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000176715

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

    More...
    Orphaneti
    289504 Combined malonic and methylmalonic acidemia

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA162375375

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q4G176

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ACSF3

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    296439438

    <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 – 83MitochondrionSequence analysisAdd BLAST83
    <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_000031580084 – 576Malonate--CoA ligase ACSF3, mitochondrialAdd BLAST493

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q4G176

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q4G176

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q4G176

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q4G176

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

    More...
    PaxDbi
    Q4G176

    PeptideAtlas

    More...
    PeptideAtlasi
    Q4G176

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q4G176

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    62157

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q4G176

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

    More...
    PhosphoSitePlusi
    Q4G176

    <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

    More...
    Bgeei
    ENSG00000176715 Expressed in 127 organ(s), highest expression level in mucosa of transverse colon

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q4G176 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q4G176 HS

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    128248, 18 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q4G176, 17 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000479130

    <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
    Q4G176

    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

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1176 Eukaryota
    COG0318 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000157000

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000229983

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q4G176

    KEGG Orthology (KO)

    More...
    KOi
    K18660

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    YKIPQVM

    Database of Orthologous Groups

    More...
    OrthoDBi
    533939at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q4G176

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF312995

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.40.50.12780, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR025110 AMP-bd_C
    IPR020845 AMP-binding_CS
    IPR000873 AMP-dep_Synth/Lig
    IPR042099 AMP-dep_Synthh-like_sf

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00501 AMP-binding, 1 hit
    PF13193 AMP-binding_C, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00455 AMP_BINDING, 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>. 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_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 11 potential isoforms that are computationally mapped.Show allAlign All

    Q4G176-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MLPHVVLTFR RLGCALASCR LAPARHRGSG LLHTAPVARS DRSAPVFTRA
    60 70 80 90 100
    LAFGDRIALV DQHGRHTYRE LYSRSLRLSQ EICRLCGCVG GDLREERVSF
    110 120 130 140 150
    LCANDASYVV AQWASWMSGG VAVPLYRKHP AAQLEYVICD SQSSVVLASQ
    160 170 180 190 200
    EYLELLSPVV RKLGVPLLPL TPAIYTGAVE EPAEVPVPEQ GWRNKGAMII
    210 220 230 240 250
    YTSGTTGRPK GVLSTHQNIR AVVTGLVHKW AWTKDDVILH VLPLHHVHGV
    260 270 280 290 300
    VNALLCPLWV GATCVMMPEF SPQQVWEKFL SSETPRINVF MAVPTIYTKL
    310 320 330 340 350
    MEYYDRHFTQ PHAQDFLRAV CEEKIRLMVS GSAALPLPVL EKWKNITGHT
    360 370 380 390 400
    LLERYGMTEI GMALSGPLTT AVRLPGSVGT PLPGVQVRIV SENPQREACS
    410 420 430 440 450
    YTIHAEGDER GTKVTPGFEE KEGELLVRGP SVFREYWNKP EETKSAFTLD
    460 470 480 490 500
    GWFKTGDTVV FKDGQYWIRG RTSVDIIKTG GYKVSALEVE WHLLAHPSIT
    510 520 530 540 550
    DVAVIGVPDM TWGQRVTAVV TLREGHSLSH RELKEWARNV LAPYAVPSEL
    560 570
    VLVEEIPRNQ MGKIDKKALI RHFHPS
    Length:576
    Mass (Da):64,130
    Last modified:May 18, 2010 - 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:i60F0D5020817EF70
    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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    F5H5A1F5H5A1_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    311Annotation 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>
    F5GX20F5GX20_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    237Annotation 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>
    F5H2G6F5H2G6_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    368Annotation 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>
    F5H755F5H755_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    235Annotation 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>
    F5H362F5H362_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    190Annotation 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>
    H0YGC7H0YGC7_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    183Annotation 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>
    H0YH37H0YH37_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    144Annotation 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>
    F5H3B2F5H3B2_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    105Annotation 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>
    H0YGJ0H0YGJ0_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    106Annotation 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>
    A0A3B3ISK9A0A3B3ISK9_HUMAN
    Malonate--CoA ligase ACSF3, mitocho...
    ACSF3
    646Annotation 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>
    There is more potential isoformShow all

    <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 AAH72391 differs from that shown. Aberrant splicing.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 conflicti148A → V in AAH28399 (PubMed:15489334).Curated1
    Sequence conflicti278K → E in BAC11654 (PubMed:16303743).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0383062L → P1 PublicationCorresponds to variant dbSNP:rs7188200EnsemblClinVar.1
    Natural variantiVAR_03830717A → P1 PublicationCorresponds to variant dbSNP:rs11547019EnsemblClinVar.1
    Natural variantiVAR_066504198M → R in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs387907121EnsemblClinVar.1
    Natural variantiVAR_066505243P → L in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs140986055EnsemblClinVar.1
    Natural variantiVAR_066506358T → I in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs387907120EnsemblClinVar.1
    Natural variantiVAR_066507359E → K in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs150487794EnsemblClinVar.1
    Natural variantiVAR_038308372V → M1 PublicationCorresponds to variant dbSNP:rs3743979Ensembl.1
    Natural variantiVAR_066508462K → T in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs1362504214Ensembl.1
    Natural variantiVAR_066509465 – 470Missing in CMAMMA. 1 Publication6
    Natural variantiVAR_066510471R → Q in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs387907119EnsemblClinVar.1
    Natural variantiVAR_066511471R → W in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs138680796EnsemblClinVar.1
    Natural variantiVAR_066512480G → S in CMAMMA. 1 Publication1
    Natural variantiVAR_066513558R → W in CMAMMA. 1 PublicationCorresponds to variant dbSNP:rs141090143EnsemblClinVar.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
    AK075499 mRNA Translation: BAC11654.1
    AK290963 mRNA Translation: BAF83652.1
    AC009113 Genomic DNA No translation available.
    AC135782 Genomic DNA No translation available.
    CH471184 Genomic DNA Translation: EAW66744.1
    BC028399 mRNA Translation: AAH28399.1
    BC072391 mRNA Translation: AAH72391.1 Sequence problems.

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS10974.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001120686.1, NM_001127214.3
    NP_001230208.1, NM_001243279.2
    NP_777577.2, NM_174917.4

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000317447; ENSP00000320646; ENSG00000176715
    ENST00000406948; ENSP00000384627; ENSG00000176715
    ENST00000614302; ENSP00000479130; ENSG00000176715

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    197322

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:197322

    UCSC genome browser

    More...
    UCSCi
    uc002fmp.5 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
    AK075499 mRNA Translation: BAC11654.1
    AK290963 mRNA Translation: BAF83652.1
    AC009113 Genomic DNA No translation available.
    AC135782 Genomic DNA No translation available.
    CH471184 Genomic DNA Translation: EAW66744.1
    BC028399 mRNA Translation: AAH28399.1
    BC072391 mRNA Translation: AAH72391.1 Sequence problems.
    CCDSiCCDS10974.1
    RefSeqiNP_001120686.1, NM_001127214.3
    NP_001230208.1, NM_001243279.2
    NP_777577.2, NM_174917.4

    3D structure databases

    SMRiQ4G176
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi128248, 18 interactors
    IntActiQ4G176, 17 interactors
    STRINGi9606.ENSP00000479130

    Chemistry databases

    SwissLipidsiSLP:000000541

    PTM databases

    iPTMnetiQ4G176
    PhosphoSitePlusiQ4G176

    Polymorphism and mutation databases

    BioMutaiACSF3
    DMDMi296439438

    Proteomic databases

    EPDiQ4G176
    jPOSTiQ4G176
    MassIVEiQ4G176
    MaxQBiQ4G176
    PaxDbiQ4G176
    PeptideAtlasiQ4G176
    PRIDEiQ4G176
    ProteomicsDBi62157

    Genome annotation databases

    EnsembliENST00000317447; ENSP00000320646; ENSG00000176715
    ENST00000406948; ENSP00000384627; ENSG00000176715
    ENST00000614302; ENSP00000479130; ENSG00000176715
    GeneIDi197322
    KEGGihsa:197322
    UCSCiuc002fmp.5 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    197322
    DisGeNETi197322

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ACSF3
    HGNCiHGNC:27288 ACSF3
    MalaCardsiACSF3
    MIMi614245 gene
    614265 phenotype
    neXtProtiNX_Q4G176
    OpenTargetsiENSG00000176715
    Orphaneti289504 Combined malonic and methylmalonic acidemia
    PharmGKBiPA162375375

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1176 Eukaryota
    COG0318 LUCA
    GeneTreeiENSGT00940000157000
    HOGENOMiHOG000229983
    InParanoidiQ4G176
    KOiK18660
    OMAiYKIPQVM
    OrthoDBi533939at2759
    PhylomeDBiQ4G176
    TreeFamiTF312995

    Enzyme and pathway databases

    ReactomeiR-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

    Miscellaneous databases

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

    More...
    ChiTaRSi
    ACSF3 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    ACSF3

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

    More...
    GenomeRNAii
    197322
    PharosiQ4G176

    Protein Ontology

    More...
    PROi
    PR:Q4G176

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000176715 Expressed in 127 organ(s), highest expression level in mucosa of transverse colon
    ExpressionAtlasiQ4G176 baseline and differential
    GenevisibleiQ4G176 HS

    Family and domain databases

    Gene3Di3.40.50.12780, 1 hit
    InterProiView protein in InterPro
    IPR025110 AMP-bd_C
    IPR020845 AMP-binding_CS
    IPR000873 AMP-dep_Synth/Lig
    IPR042099 AMP-dep_Synthh-like_sf
    PfamiView protein in Pfam
    PF00501 AMP-binding, 1 hit
    PF13193 AMP-binding_C, 1 hit
    PROSITEiView protein in PROSITE
    PS00455 AMP_BINDING, 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 nameiACSF3_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: Q4G176
    Secondary accession number(s): A8K4J8
    , C9JQL6, Q6INA0, Q8N2F7
    <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: January 15, 2008
    Last sequence update: May 18, 2010
    Last modified: September 18, 2019
    This is version 120 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. SIMILARITY comments
      Index of protein domains and families
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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