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Q08AH1 (ACSM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acyl-coenzyme A synthetase ACSM1, mitochondrial

EC=6.2.1.2
Alternative name(s):
Acyl-CoA synthetase medium-chain family member 1
Butyrate--CoA ligase 1
Butyryl-coenzyme A synthetase 1
Lipoate-activating enzyme
Middle-chain acyl-CoA synthetase 1
Gene names
Name:ACSM1
Synonyms:BUCS1, LAE, MACS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length577 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C4 to C11 and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase By similarity.

Catalytic activity

ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.

GTP + lipoate = diphosphate + lipoyl-GMP.

Cofactor

Magnesium By similarity.

Subunit structure

Monomer By similarity.

Subcellular location

Mitochondrion matrix By similarity.

Sequence similarities

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

Ontologies

Keywords
   Biological processFatty acid metabolism
Lipid metabolism
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransit peptide
   LigandATP-binding
GTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionLigase
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbenzoate metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

butyrate metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

cholesterol homeostasis

Non-traceable author statement PubMed 15361761. Source: BHF-UCL

energy derivation by oxidation of organic compounds

Non-traceable author statement Ref.1. Source: UniProtKB

fatty acid biosynthetic process

Inferred from electronic annotation. Source: Ensembl

fatty acid oxidation

Non-traceable author statement Ref.1. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentblood microparticle

Inferred from direct assay PubMed 22516433. Source: UniProt

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

mitochondrial matrix

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

GTP binding

Inferred from electronic annotation. Source: UniProtKB-KW

acyl-CoA ligase activity

Inferred from direct assay Ref.1. Source: UniProtKB

butyrate-CoA ligase activity

Inferred from direct assay Ref.1. Source: UniProtKB

fatty acid ligase activity

Inferred from electronic annotation. Source: Ensembl

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q08AH1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q08AH1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     205-577: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3131Mitochondrion By similarity
Chain32 – 577546Acyl-coenzyme A synthetase ACSM1, mitochondrial
PRO_0000306091

Regions

Nucleotide binding226 – 2349ATP By similarity

Sites

Binding site4521ATP By similarity
Binding site4671ATP By similarity
Binding site5631ATP By similarity

Amino acid modifications

Modified residue851N6-succinyllysine By similarity
Modified residue1461N6-acetyllysine; alternate By similarity
Modified residue1461N6-succinyllysine; alternate By similarity
Modified residue1831N6-succinyllysine By similarity
Modified residue2041N6-acetyllysine; alternate By similarity
Modified residue2041N6-succinyllysine; alternate By similarity
Modified residue2141N6-acetyllysine By similarity
Modified residue2371N6-succinyllysine By similarity
Modified residue3561N6-acetyllysine; alternate By similarity
Modified residue3561N6-succinyllysine; alternate By similarity
Modified residue3911N6-acetyllysine; alternate By similarity
Modified residue3911N6-succinyllysine; alternate By similarity
Modified residue5311N6-acetyllysine By similarity
Modified residue5381N6-acetyllysine; alternate By similarity
Modified residue5381N6-succinyllysine; alternate By similarity
Modified residue5491N6-acetyllysine By similarity

Natural variations

Alternative sequence205 – 577373Missing in isoform 2.
VSP_028391
Natural variant2721I → M.
Corresponds to variant rs16970511 [ dbSNP | Ensembl ].
VAR_048238
Natural variant4791I → V.
Corresponds to variant rs8056709 [ dbSNP | Ensembl ].
VAR_035245
Natural variant5151I → T.
Corresponds to variant rs16970453 [ dbSNP | Ensembl ].
VAR_035246

Experimental info

Sequence conflict5491K → N in BAB64535. Ref.1
Sequence conflict5491K → N in BAB68363. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 31, 2006. Version 1.
Checksum: 380BF4B8944B0E34

FASTA57765,273
        10         20         30         40         50         60 
MQWLMRFRTL WGIHKSFHNI HPAPSQLRCR SLSEFGAPRW NDYEVPEEFN FASYVLDYWA 

        70         80         90        100        110        120 
QKEKEGKRGP NPAFWWVNGQ GDEVKWSFRE MGDLTRRVAN VFTQTCGLQQ GDHLALMLPR 

       130        140        150        160        170        180 
VPEWWLVAVG CMRTGIIFIP ATILLKAKDI LYRLQLSKAK GIVTIDALAS EVDSIASQCP 

       190        200        210        220        230        240 
SLKTKLLVSD HSREGWLDFR SLVKSASPEH TCVKSKTLDP MVIFFTSGTT GFPKMAKHSH 

       250        260        270        280        290        300 
GLALQPSFPG SRKLRSLKTS DVSWCLSDSG WIVATIWTLV EPWTAGCTVF IHHLPQFDTK 

       310        320        330        340        350        360 
VIIQTLLKYP INHFWGVSSI YRMILQQDFT SIRFPALEHC YTGGEVVLPK DQEEWKRRTG 

       370        380        390        400        410        420 
LLLYENYGQS ETGLICATYW GMKIKPGFMG KATPPYDVQV IDDKGSILPP NTEGNIGIRI 

       430        440        450        460        470        480 
KPVRPVSLFM CYEGDPEKTA KVECGDFYNT GDRGKMDEEG YICFLGRSDD IINASGYRIG 

       490        500        510        520        530        540 
PAEVESALVE HPAVAESAVV GSPDPIRGEV VKAFIVLTPQ FLSHDKDQLT KELQQHVKSV 

       550        560        570 
TAPYKYPRKV EFVSELPKTI TGKIERKELR KKETGQM 

« Hide

Isoform 2 [UniParc].

Checksum: 6C7EAEA423A0D790
Show »

FASTA20423,538

References

« Hide 'large scale' references
[1]"Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product."
Fujino T., Takei Y.A., Sone H., Ioka R.X., Kamataki A., Magoori K., Takahashi S., Sakai J., Yamamoto T.T.
J. Biol. Chem. 276:35961-35966(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB059429 mRNA. Translation: BAB64535.1.
AB062503 Genomic DNA. Translation: BAB68363.1.
BC125177 mRNA. Translation: AAI25178.1.
BC125178 mRNA. Translation: AAI25179.1.
RefSeqNP_443188.2. NM_052956.2.
XP_005255141.1. XM_005255084.1.
UniGeneHs.306812.

3D structure databases

ProteinModelPortalQ08AH1.
SMRQ08AH1. Positions 44-573.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ08AH1. 1 interaction.
STRING9606.ENSP00000301956.

PTM databases

PhosphoSiteQ08AH1.

Polymorphism databases

DMDM121940002.

Proteomic databases

PaxDbQ08AH1.
PRIDEQ08AH1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307493; ENSP00000301956; ENSG00000166743. [Q08AH1-1]
ENST00000519745; ENSP00000428650; ENSG00000166743. [Q08AH1-2]
ENST00000520010; ENSP00000428047; ENSG00000166743. [Q08AH1-1]
GeneID116285.
KEGGhsa:116285.
UCSCuc002dhm.1. human. [Q08AH1-1]

Organism-specific databases

CTD116285.
GeneCardsGC16M020634.
H-InvDBHIX0012861.
HIX0022577.
HGNCHGNC:18049. ACSM1.
HPAHPA046291.
MIM614357. gene.
neXtProtNX_Q08AH1.
PharmGKBPA25468.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0365.
HOGENOMHOG000229982.
HOVERGENHBG053031.
InParanoidQ08AH1.
KOK01896.
OMAHIYISAA.
OrthoDBEOG7D85VZ.
PhylomeDBQ08AH1.
TreeFamTF354287.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ08AH1.
BgeeQ08AH1.
CleanExHS_ACSM1.
GenevestigatorQ08AH1.

Family and domain databases

InterProIPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view]
PROSITEPS00455. AMP_BINDING. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi116285.
NextBio79860.
PROQ08AH1.
SOURCESearch...

Entry information

Entry nameACSM1_HUMAN
AccessionPrimary (citable) accession number: Q08AH1
Secondary accession number(s): Q08AH2, Q96A20
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 31, 2006
Last modified: April 16, 2014
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM