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Reviewed, UniProtKB/Swiss-Prot Q08AH1 (ACSM1_HUMAN)

Last modified January 19, 2010. Version 34. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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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
    Middle-chain acyl-CoA synthetase 1
    Butyryl coenzyme A synthetase 1
    Butyrate--CoA ligase 1
    Lipoate-activating enzyme
Gene names
Name: ACSM1
Synonyms: BUCS1, LAE, MACS1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

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

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General annotation (Comments)

Function

Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C4 to C(11) 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 + an acid + 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.

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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.

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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

Natural variations

Alternative sequence205 – 577373Missing in isoform 2.
VSP_028391
Natural variant2721I → M: dbSNP rs16970511.
VAR_048238
Natural variant4791I → V: dbSNP rs8056709.
VAR_035245
Natural variant5151I → T: dbSNP rs16970453.
VAR_035246

Experimental info

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

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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.

Checksum: 6C7EAEA423A0D790
Show »

FASTA20423,538

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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: 11470804] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
+Additional computationally mapped references.

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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.
IPIIPI00059184.
IPI00867642.
RefSeqNP_443188.2.
UniGeneHs.306812

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ08AH1.

Proteomic databases

PRIDEQ08AH1.

Genome annotation databases

EnsemblENST00000307493; ENSP00000301956; ENSG00000166743; Homo sapiens. [Genome view]
GeneID116285.
KEGGhsa:116285.
NMPDRfig|9606.3.peg.11827.
UCSCuc002dhm.1. human.

Organism-specific databases

CTD116285.
GeneCardsGC16M020543.
HGNCHGNC:18049. ACSM1.
PharmGKBPA25468.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHBG547964.
HOVERGENQ08AH1.
InParanoidQ08AH1.
OMAMRTGIIF.
OrthoDBEOG9B8MZJ.
PhylomeDBQ08AH1.

Enzyme and pathway databases

BRENDA6.2.1.2. 247.
ReactomeREACT_13433. Biological oxidations.

Gene expression databases

ArrayExpressQ08AH1.
BgeeQ08AH1.
CleanExHS_ACSM1.
GenevestigatorQ08AH1.

Family and domain databases

InterProIPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
[Graphical view]
PROSITEPS00455. AMP_BINDING. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio79860.

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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: January 19, 2010
This is version 34 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents