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UniProtKB - Q96CM8 (ACSF2_HUMAN)

Entry version 144 (29 Sep 2021)
Sequence version 2 (15 Jan 2008)
Previous versions | rss
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Protein

Medium-chain acyl-CoA ligase ACSF2, mitochondrial

Gene

ACSF2

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

Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (PubMed:17762044).

Has some preference toward medium-chain substrates (PubMed:17762044).

Plays a role in adipocyte differentiation (PubMed:16380219).

2 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

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 sitei493ATPBy similarity1
Binding sitei508ATPBy similarity1
Binding sitei599ATPBy 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 bindingi263 – 271ATPBy 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96CM8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-77289, Mitochondrial Fatty Acid Beta-Oxidation

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001145

<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:
Medium-chain acyl-CoA ligase ACSF2, mitochondrialCurated (EC:6.2.1.21 Publication)
<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:ACSF2Imported
ORF Names:UNQ493/PRO1009
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26101, ACSF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610465, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96CM8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000167107

<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

Keywords - Cellular componenti

Mitochondrion

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

Organism-specific databases

DisGeNET

More...DisGeNETi		80221

Open Targets

More...OpenTargetsi		ENSG00000167107

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162375338

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96CM8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACSF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		166198367

<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 – 41MitochondrionSequence analysisAdd BLAST41
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000031579342 – 615Medium-chain acyl-CoA ligase ACSF2, mitochondrialAdd BLAST574

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 residuei179N6-acetyllysineBy similarity1
Modified residuei182N6-acetyllysine; alternateBy similarity1
Modified residuei182N6-succinyllysine; alternateBy similarity1
Modified residuei340N6-acetyllysineBy similarity1
Modified residuei398N6-acetyllysineBy similarity1
Modified residuei478N6-succinyllysineBy similarity1
Modified residuei510N6-acetyllysineBy similarity1
Modified residuei544N6-acetyllysine; alternateBy similarity1
Modified residuei544N6-succinyllysine; alternateBy similarity1
Modified residuei570N6-acetyllysine; alternateBy similarity1
Modified residuei570N6-succinyllysine; alternateBy similarity1
Modified residuei599N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-5
CPTAC-6

Encyclopedia of Proteome Dynamics

More...EPDi		Q96CM8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96CM8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96CM8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96CM8

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

More...PaxDbi		Q96CM8

PeptideAtlas

More...PeptideAtlasi		Q96CM8

PRoteomics IDEntifications database

More...PRIDEi		Q96CM8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4067
4247
5184
76194 [Q96CM8-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q96CM8-1 [Q96CM8-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96CM8, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96CM8

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

More...PhosphoSitePlusi		Q96CM8

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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By PPARG.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000167107, Expressed in right adrenal gland and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96CM8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96CM8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000167107, Tissue enhanced (kidney)

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

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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123187, 52 interactors

Protein interaction database and analysis system

More...IntActi		Q96CM8, 34 interactors

Molecular INTeraction database

More...MINTi		Q96CM8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000401831

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96CM8, protein

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

3D structure databases

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

More...SMRi		Q96CM8

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

Belongs to the ATP-dependent AMP-binding enzyme family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1177, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156830

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000022_59_7_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96CM8

Identification of Orthologs from Complete Genome Data

More...OMAi		KQSDMKA

Database of Orthologous Groups

More...OrthoDBi		386992at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96CM8

TreeFam database of animal gene trees

More...TreeFami		TF313466

Family and domain databases

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

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>Sequences (4+)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 describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96CM8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAVYVGMLRL GRLCAGSSGV LGARAALSRS WQEARLQGVR FLSSREVDRM 
        60         70         80         90        100
VSTPIGGLSY VQGCTKKHLN SKTVGQCLET TAQRVPEREA LVVLHEDVRL 
       110        120        130        140        150
TFAQLKEEVD KAASGLLSIG LCKGDRLGMW GPNSYAWVLM QLATAQAGII 
       160        170        180        190        200
LVSVNPAYQA MELEYVLKKV GCKALVFPKQ FKTQQYYNVL KQICPEVENA 
       210        220        230        240        250
QPGALKSQRL PDLTTVISVD APLPGTLLLD EVVAAGSTRQ HLDQLQYNQQ 
       260        270        280        290        300
FLSCHDPINI QFTSGTTGSP KGATLSHYNI VNNSNILGER LKLHEKTPEQ 
       310        320        330        340        350
LRMILPNPLY HCLGSVAGTM MCLMYGATLI LASPIFNGKK ALEAISRERG 
       360        370        380        390        400
TFLYGTPTMF VDILNQPDFS SYDISTMCGG VIAGSPAPPE LIRAIINKIN 
       410        420        430        440        450
MKDLVVAYGT TENSPVTFAH FPEDTVEQKA ESVGRIMPHT EARIMNMEAG 
       460        470        480        490        500
TLAKLNTPGE LCIRGYCVML GYWGEPQKTE EAVDQDKWYW TGDVATMNEQ 
       510        520        530        540        550
GFCKIVGRSK DMIIRGGENI YPAELEDFFH THPKVQEVQV VGVKDDRMGE 
       560        570        580        590        600
EICACIRLKD GEETTVEEIK AFCKGKISHF KIPKYIVFVT NYPLTISGKI 
       610 
QKFKLREQME RHLNL
Length:615
Mass (Da):68,125
Last modified:January 15, 2008 - v2
<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:iA3356EEA7C14730B
GO
Isoform 2 (identifier: Q96CM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-43: S → SARGGMEAGRQRISVPSSFTASAAAH

Show »
Length:640
Mass (Da):70,623
Checksum:iDD1F4E5DEBDE9CE0
GO
Isoform 3 (identifier: Q96CM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-158: Missing.

Show »
Length:602
Mass (Da):66,798
Checksum:iCF7D0940C1611AC2
GO
Isoform 4 (identifier: Q96CM8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.

Show »
Length:455
Mass (Da):50,880
Checksum:i61FC83503081C5C9
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PF16E9PF16_HUMAN
Medium-chain acyl-CoA ligase ACSF2,...
ACSF2
572Annotation 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>
D6RF87D6RF87_HUMAN
Medium-chain acyl-CoA ligase ACSF2,...
ACSF2
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>
H0Y8N1H0Y8N1_HUMAN
Medium-chain acyl-CoA ligase ACSF2,...
ACSF2
104Annotation 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>
H0Y8Y5H0Y8Y5_HUMAN
Medium-chain acyl-CoA ligase ACSF2,...
ACSF2
85Annotation 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>
D6RF15D6RF15_HUMAN
Medium-chain acyl-CoA ligase ACSF2,...
ACSF2
54Annotation 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>
E7EN53E7EN53_HUMAN
Medium-chain acyl-CoA ligase ACSF2,...
ACSF2
45Annotation score:

Annotation score:1 out of 5

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_03830475G → V1 PublicationCorresponds to variant dbSNP:rs17856448Ensembl.1
Natural variantiVAR_038305316V → M. Corresponds to variant dbSNP:rs3744523Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0558031 – 160Missing in isoform 4. 1 PublicationAdd BLAST160
Alternative sequenceiVSP_05580443S → SARGGMEAGRQRISVPSSFT ASAAAH in isoform 2. 1 Publication1
Alternative sequenceiVSP_055805146 – 158Missing in isoform 3. 1 PublicationAdd BLAST13

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
AY358660 mRNA Translation: AAQ89023.1
AK024573 mRNA Translation: BAB14930.1
AK294205 mRNA Translation: BAG57517.1
AK295258 mRNA Translation: BAG58247.1
AK300625 mRNA Translation: BAG62317.1
AC004707 Genomic DNA No translation available.
AC021491 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94612.1
BC012053 mRNA Translation: AAH12053.1
BC014123 mRNA Translation: AAH14123.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11567.1 [Q96CM8-1]
CCDS74103.1 [Q96CM8-2]
CCDS74104.1 [Q96CM8-3]

NCBI Reference Sequences

More...RefSeqi		NP_001275897.1, NM_001288968.1 [Q96CM8-2]
NP_001275898.1, NM_001288969.1 [Q96CM8-3]
NP_001275899.1, NM_001288970.1
NP_001275900.1, NM_001288971.1 [Q96CM8-4]
NP_001275901.1, NM_001288972.1 [Q96CM8-4]
NP_079425.3, NM_025149.5 [Q96CM8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000300441; ENSP00000300441; ENSG00000167107 [Q96CM8-1]
ENST00000427954; ENSP00000401831; ENSG00000167107 [Q96CM8-2]
ENST00000502667; ENSP00000421884; ENSG00000167107 [Q96CM8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80221

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80221

UCSC genome browser

More...UCSCi		uc002iqu.4, human [Q96CM8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY358660 mRNA Translation: AAQ89023.1
AK024573 mRNA Translation: BAB14930.1
AK294205 mRNA Translation: BAG57517.1
AK295258 mRNA Translation: BAG58247.1
AK300625 mRNA Translation: BAG62317.1
AC004707 Genomic DNA No translation available.
AC021491 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94612.1
BC012053 mRNA Translation: AAH12053.1
BC014123 mRNA Translation: AAH14123.1
CCDSiCCDS11567.1 [Q96CM8-1]
CCDS74103.1 [Q96CM8-2]
CCDS74104.1 [Q96CM8-3]
RefSeqiNP_001275897.1, NM_001288968.1 [Q96CM8-2]
NP_001275898.1, NM_001288969.1 [Q96CM8-3]
NP_001275899.1, NM_001288970.1
NP_001275900.1, NM_001288971.1 [Q96CM8-4]
NP_001275901.1, NM_001288972.1 [Q96CM8-4]
NP_079425.3, NM_025149.5 [Q96CM8-1]

3D structure databases

SMRiQ96CM8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123187, 52 interactors
IntActiQ96CM8, 34 interactors
MINTiQ96CM8
STRINGi9606.ENSP00000401831

Chemistry databases

SwissLipidsiSLP:000001145

PTM databases

GlyGeniQ96CM8, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ96CM8
PhosphoSitePlusiQ96CM8

Genetic variation databases

BioMutaiACSF2
DMDMi166198367

Proteomic databases

CPTACiCPTAC-5
CPTAC-6
EPDiQ96CM8
jPOSTiQ96CM8
MassIVEiQ96CM8
MaxQBiQ96CM8
PaxDbiQ96CM8
PeptideAtlasiQ96CM8
PRIDEiQ96CM8
ProteomicsDBi4067
4247
5184
76194 [Q96CM8-1]
TopDownProteomicsiQ96CM8-1 [Q96CM8-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30532, 136 antibodies

The DNASU plasmid repository

More...DNASUi		80221

Genome annotation databases

EnsembliENST00000300441; ENSP00000300441; ENSG00000167107 [Q96CM8-1]
ENST00000427954; ENSP00000401831; ENSG00000167107 [Q96CM8-2]
ENST00000502667; ENSP00000421884; ENSG00000167107 [Q96CM8-3]
GeneIDi80221
KEGGihsa:80221
UCSCiuc002iqu.4, human [Q96CM8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80221
DisGeNETi80221

GeneCards: human genes, protein and diseases

More...GeneCardsi		ACSF2
HGNCiHGNC:26101, ACSF2
HPAiENSG00000167107, Tissue enhanced (kidney)
MIMi610465, gene
neXtProtiNX_Q96CM8
OpenTargetsiENSG00000167107
PharmGKBiPA162375338
VEuPathDBiHostDB:ENSG00000167107

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1177, Eukaryota
GeneTreeiENSGT00940000156830
HOGENOMiCLU_000022_59_7_1
InParanoidiQ96CM8
OMAiKQSDMKA
OrthoDBi386992at2759
PhylomeDBiQ96CM8
TreeFamiTF313466

Enzyme and pathway databases

PathwayCommonsiQ96CM8
ReactomeiR-HSA-77289, Mitochondrial Fatty Acid Beta-Oxidation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80221, 13 hits in 1017 CRISPR screens

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

More...ChiTaRSi		ACSF2, human

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

More...GenomeRNAii		80221
PharosiQ96CM8, Tbio

Protein Ontology

More...PROi		PR:Q96CM8
RNActiQ96CM8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000167107, Expressed in right adrenal gland and 201 other tissues
ExpressionAtlasiQ96CM8, baseline and differential
GenevisibleiQ96CM8, 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

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 nameiACSF2_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: Q96CM8
Secondary accession number(s): B4DFQ6
, B4DHT5, B4DUF5, Q9H7G2
<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: January 15, 2008
Last modified: September 29, 2021
This is version 144 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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