Q08AH1 (ACSM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	577 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Fatty acid metabolism Lipid metabolism
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Ligand	ATP-binding GTP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Ligase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	benzoate 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: Compara fatty acid oxidation Non-traceable author statement Ref.1. Source: UniProtKB xenobiotic metabolic process Traceable author statement. Source: Reactome
Cellular_component	mitochondrial matrix Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	ATP 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: Compara 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 31	31	Mitochondrion By similarity
	Chain	32 – 577	546	Acyl-coenzyme A synthetase ACSM1, mitochondrial		PRO_0000306091
Regions
	Nucleotide binding	226 – 234	9	ATP By similarity
Sites
	Binding site	452	1	ATP By similarity
	Binding site	467	1	ATP By similarity
	Binding site	563	1	ATP By similarity
Natural variations
	Alternative sequence	205 – 577	373	Missing in isoform 2.		VSP_028391
	Natural variant	272	1	I → M. Corresponds to variant rs16970511 [ dbSNP | Ensembl ].		VAR_048238
	Natural variant	479	1	I → V. Corresponds to variant rs8056709 [ dbSNP | Ensembl ].		VAR_035245
	Natural variant	515	1	I → T. Corresponds to variant rs16970453 [ dbSNP | Ensembl ].		VAR_035246
Experimental info
	Sequence conflict	549	1	K → N in BAB64535. Ref.1
	Sequence conflict	549	1	K → N in BAB68363. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2006. Version 1. Checksum: 380BF4B8944B0E34	FASTA	577	65,273
	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
	Isoform 2 [UniParc]. Checksum: 6C7EAEA423A0D790	FASTA	204	23,538
	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 SLKTKLLVSD HSREGWLDFR SLVK

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00059184. IPI00867642.
RefSeq	NP_443188.2. NM_052956.2.
UniGene	Hs.306812.
3D structure databases
ProteinModelPortal	Q08AH1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q08AH1. 1 interaction.
STRING	9606.ENSP00000301956.
PTM databases
PhosphoSite	Q08AH1.
Polymorphism databases
DMDM	121940002.
Proteomic databases
PaxDb	Q08AH1.
PRIDE	Q08AH1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307493; ENSP00000301956; ENSG00000166743. ENST00000519745; ENSP00000428650; ENSG00000166743. ENST00000520010; ENSP00000428047; ENSG00000166743.
GeneID	116285.
KEGG	hsa:116285.
UCSC	uc002dhm.1. human.
Organism-specific databases
CTD	116285.
GeneCards	GC16M020634.
H-InvDB	HIX0012861. HIX0022577.
HGNC	HGNC:18049. ACSM1.
HPA	HPA046291.
MIM	614357. gene.
neXtProt	NX_Q08AH1.
PharmGKB	PA25468.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0365.
HOGENOM	HOG000229982.
HOVERGEN	HBG053031.
InParanoid	Q08AH1.
KO	K01896.
OMA	CFPRDAR.
OrthoDB	EOG40ZQXB.
PhylomeDB	Q08AH1.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q08AH1.
Bgee	Q08AH1.
CleanEx	HS_ACSM1.
Genevestigator	Q08AH1.
Family and domain databases
InterPro	IPR020845. AMP-binding_CS. IPR000873. AMP-dep_Synth/Lig. IPR025110. DUF4009. [Graphical view]
Pfam	PF00501. AMP-binding. 1 hit. PF13193. DUF4009. 1 hit. [Graphical view]
PROSITE	PS00455. AMP_BINDING. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	116285.
NextBio	79860.
SOURCE	Search...

Entry information

Entry name

ACSM1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 59 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.