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Protein

Acyl-CoA synthetase family member 3, 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. May have some preference toward very-long-chain substrates.2 Publications

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 sitei457ATPBy similarity1
Binding sitei471ATPBy similarity1
Binding sitei563ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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:
Acyl-CoA synthetase family member 3, mitochondrial (EC:6.2.1.-)
<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:ACSF3
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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000176715.15

Human Gene Nomenclature Database

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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; 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.
See also OMIM:614265
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 Publication1
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

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

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 – 576Acyl-CoA synthetase family member 3, mitochondrialAdd BLAST493

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q4G176

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q4G176

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

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PaxDbi
Q4G176

PeptideAtlas

More...
PeptideAtlasi
Q4G176

PRoteomics IDEntifications database

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PRIDEi
Q4G176

ProteomicsDB human proteome resource

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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

CleanEx database of gene expression profiles

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CleanExi
HS_ACSF3

ExpressionAtlas, Differential and Baseline Expression

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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)

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BioGridi
128248, 17 interactors

Protein interaction database and analysis system

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IntActi
Q4G176, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000320646

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q4G176

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

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SMRi
Q4G176

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...

<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

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eggNOGi
KOG1176 Eukaryota
COG0318 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157000

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000229983

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG100430

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q4G176

KEGG Orthology (KO)

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KOi
K18660

Identification of Orthologs from Complete Genome Data

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OMAi
VGMAISC

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0427

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4G176

TreeFam database of animal gene trees

More...
TreeFami
TF312995

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR025110 AMP-bd_C
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig

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>.<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 10 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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H5A1F5H5A1_HUMAN
Acyl-CoA synthetase family member 3...
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
Acyl-CoA synthetase family member 3...
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
Acyl-CoA synthetase family member 3...
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
Acyl-CoA synthetase family member 3...
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>
H0YGC7H0YGC7_HUMAN
Acyl-CoA synthetase family member 3...
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
Acyl-CoA synthetase family member 3...
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>
F5H362F5H362_HUMAN
Acyl-CoA synthetase family member 3...
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>
F5H3B2F5H3B2_HUMAN
Acyl-CoA synthetase family member 3...
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
Acyl-CoA synthetase family member 3...
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>
H3BTS0H3BTS0_HUMAN
Acyl-CoA synthetase family member 3...
ACSF3
28Annotation 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 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 Publication1
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

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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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.461727
Hs.720526

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

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GeneIDi
197322

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:197322

UCSC genome browser

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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
UniGeneiHs.461727
Hs.720526

3D structure databases

ProteinModelPortaliQ4G176
SMRiQ4G176
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128248, 17 interactors
IntActiQ4G176, 9 interactors
STRINGi9606.ENSP00000320646

Chemistry databases

SwissLipidsiSLP:000000541

PTM databases

iPTMnetiQ4G176
PhosphoSitePlusiQ4G176

Polymorphism and mutation databases

BioMutaiACSF3
DMDMi296439438

Proteomic databases

EPDiQ4G176
MaxQBiQ4G176
PaxDbiQ4G176
PeptideAtlasiQ4G176
PRIDEiQ4G176
ProteomicsDBi62157

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
197322
DisGeNETi197322
EuPathDBiHostDB:ENSG00000176715.15

GeneCards: human genes, protein and diseases

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GeneCardsi
ACSF3

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0013347
HGNCiHGNC:27288 ACSF3
MalaCardsiACSF3
MIMi614245 gene
614265 phenotype
neXtProtiNX_Q4G176
OpenTargetsiENSG00000176715
Orphaneti289504 Combined malonic and methylmalonic acidemia
PharmGKBiPA162375375

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1176 Eukaryota
COG0318 LUCA
GeneTreeiENSGT00940000157000
HOGENOMiHOG000229983
HOVERGENiHBG100430
InParanoidiQ4G176
KOiK18660
OMAiVGMAISC
OrthoDBiEOG091G0427
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

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ChiTaRSi
ACSF3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACSF3

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

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GenomeRNAii
197322

Protein Ontology

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PROi
PR:Q4G176

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000176715 Expressed in 127 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_ACSF3
ExpressionAtlasiQ4G176 baseline and differential
GenevisibleiQ4G176 HS

Family and domain databases

InterProiView protein in InterPro
IPR025110 AMP-bd_C
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig
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

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ProtoNeti
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<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: December 5, 2018
This is version 114 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or 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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