Q53FZ2 (ACSM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Acyl-coenzyme A synthetase ACSM3, mitochondrial
EC=6.2.1.2

Alternative name(s):
Acyl-CoA synthetase medium-chain family member 3
Butyrate--CoA ligase 3
Butyryl-coenzyme A synthetase 3
Middle-chain acyl-CoA synthetase 3
Protein SA homolog

Gene names

Name:	ACSM3
Synonyms:	SAH

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	586 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein 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) By similarity.
Catalytic activity	ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
Cofactor	Magnesium By similarity.
Subcellular location	Mitochondrion matrix By similarity.
Sequence similarities	Belongs to the ATP-dependent AMP-binding enzyme family.
Caution	It is uncertain whether Met-1 or Met-9 is the initiator.
Sequence caution	The sequence AAC31667.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA03853.1 differs from that shown. Reason: Erroneous initiation. The sequence CAA56369.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Fatty acid metabolism Lipid metabolism
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Ligase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol homeostasis Non-traceable author statement PubMed 15361761. Source: BHF-UCL fatty acid biosynthetic process Inferred from electronic annotation. Source: Compara regulation of blood pressure Non-traceable author statement Ref.1. Source: UniProtKB
Cellular_component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW butyrate-CoA ligase activity Inferred from electronic annotation. Source: EC 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: Q53FZ2-1)

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: Q53FZ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     409-438: IVDVNGNVLPPGQEGDIGIQVLPNRPFGLF → VCTSPSRRMFNNPICTLPTYRLPPYKLSLL
     439-586: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 27	27	Mitochondrion Potential
	Chain	28 – 586	559	Acyl-coenzyme A synthetase ACSM3, mitochondrial		PRO_0000306097
Regions
	Nucleotide binding	235 – 243	9	ATP By similarity
	Nucleotide binding	374 – 379	6	ATP By similarity
Sites
	Binding site	461	1	ATP By similarity
	Binding site	476	1	ATP By similarity
	Binding site	572	1	ATP By similarity
Natural variations
	Alternative sequence	409 – 438	30	IVDVN…PFGLF → VCTSPSRRMFNNPICTLPTY RLPPYKLSLL in isoform 2.		VSP_028395
	Alternative sequence	439 – 586	148	Missing in isoform 2.		VSP_028396
	Natural variant	100	1	L → P. Corresponds to variant rs5713 [ dbSNP | Ensembl ].		VAR_035249
	Natural variant	270	1	D → H. Corresponds to variant rs13306603 [ dbSNP | Ensembl ].		VAR_048239
	Natural variant	308	1	P → T. Corresponds to variant rs7196188 [ dbSNP | Ensembl ].		VAR_035250
	Natural variant	367	1	K → N. Ref.4 Ref.7 Corresponds to variant rs5716 [ dbSNP | Ensembl ].		VAR_035251
Experimental info
	Sequence conflict	132	1	E → R in BAA03853. Ref.1
	Sequence conflict	237	1	G → A in BAA03853. Ref.1
	Sequence conflict	245	1	T → S in BAA03853. Ref.1
	Sequence conflict	407	1	V → D in BAD96859. Ref.4
	Sequence conflict	463	1	G → A in BAA03853. Ref.1
	Sequence conflict	569	1	I → V in BAA03853. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 2, 2007. Version 2. Checksum: 329967C751F11F1D	FASTA	586	66,153
	10 20 30 40 50 60 MLARVTRKML RHAKCFQRLA IFGSVRALHK DNRTATPQNF SNYESMKQDF KLGIPEYFNF 70 80 90 100 110 120 AKDVLDQWTD KEKAGKKPSN PAFWWINRNG EEMRWSFEEL GSLSRKFANI LSEACSLQRG 130 140 150 160 170 180 DRVILILPRV PEWWLANVAC LRTGTVLIPG TTQLTQKDIL YRLQSSKANC IITNDVLAPA 190 200 210 220 230 240 VDAVASKCEN LHSKLIVSEN SREGWGNLKE LMKHASDSHT CVKTKHNEIM AIFFTSGTSG 250 260 270 280 290 300 YPKMTAHTHS SFGLGLSVNG RFWLDLTPSD VMWNTSDTGW AKSAWSSVFS PWIQGACVFT 310 320 330 340 350 360 HHLPRFEPTS ILQTLSKYPI TVFCSAPTVY RMLVQNDITS YKFKSLKHCV SAGEPITPDV 370 380 390 400 410 420 TEKWRNKTGL DIYEGYGQTE TVLICGNFKG MKIKPGSMGK PSPAFDVKIV DVNGNVLPPG 430 440 450 460 470 480 QEGDIGIQVL PNRPFGLFTH YVDNPSKTAS TLRGNFYITG DRGYMDKDGY FWFVARADDV 490 500 510 520 530 540 ILSSGYRIGP FEVENALNEH PSVAESAVVS SPDPIRGEVV KAFVVLNPDY KSHDQEQLIK 550 560 570 580 EIQEHVKKTT APYKYPRKVE FIQELPKTIS GKTKRNELRK KEWKTI
	Isoform 2 [UniParc]. Checksum: A94538369727118F	FASTA	438	49,485
	10 20 30 40 50 60 MLARVTRKML RHAKCFQRLA IFGSVRALHK DNRTATPQNF SNYESMKQDF KLGIPEYFNF 70 80 90 100 110 120 AKDVLDQWTD KEKAGKKPSN PAFWWINRNG EEMRWSFEEL GSLSRKFANI LSEACSLQRG 130 140 150 160 170 180 DRVILILPRV PEWWLANVAC LRTGTVLIPG TTQLTQKDIL YRLQSSKANC IITNDVLAPA 190 200 210 220 230 240 VDAVASKCEN LHSKLIVSEN SREGWGNLKE LMKHASDSHT CVKTKHNEIM AIFFTSGTSG 250 260 270 280 290 300 YPKMTAHTHS SFGLGLSVNG RFWLDLTPSD VMWNTSDTGW AKSAWSSVFS PWIQGACVFT 310 320 330 340 350 360 HHLPRFEPTS ILQTLSKYPI TVFCSAPTVY RMLVQNDITS YKFKSLKHCV SAGEPITPDV 370 380 390 400 410 420 TEKWRNKTGL DIYEGYGQTE TVLICGNFKG MKIKPGSMGK PSPAFDVKVC TSPSRRMFNN 430 PICTLPTYRL PPYKLSLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human SA gene locus as a candidate locus for essential hypertension." Iwai N., Ohmichi N., Hanai K., Nakamura Y., Kinoshita M. Hypertension 23:375-380(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Liver.
[2]	"Evaluation of the SA locus in human hypertension." Nabika T., Bonnardeaux A., James M., Julier C., Jeunemaitre X., Corvol P., Lathrop M., Soubrier F. Hypertension 25:6-13(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), LACK OF INVOLVEMENT IN HEREDITARY HYPERTENSION.
[3]	"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-367. Tissue: Kidney.
[5]	"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] (ISOFORM 2). Tissue: Skin.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]	"SAH gene variants are associated with obesity-related hypertension in Caucasians: the PEGASE Study." Telgmann R., Brand E., Nicaud V., Hagedorn C., Beining K., Schoenfelder J., Brink-Spalink V., Schmidt-Petersen K., Matanis T., Vischer P., Nofer J.-R., Hasenkamp S., Plouin P.-F., Drouet L., Cambien F., Paul M., Tiret L., Brand-Herrmann S.-M. J. Hypertens. 25:557-564(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ASN-367.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D16350 mRNA. Translation: BAA03853.1. Different initiation. X80062 mRNA. Translation: CAA56369.1. Different initiation. AC004381 Genomic DNA. Translation: AAC31667.1. Different initiation. AK223139 mRNA. Translation: BAD96859.1. BC002790 mRNA. Translation: AAH02790.3.
IPI	IPI00297635. IPI00402513.
PIR	I54401. S69913.
RefSeq	NP_005613.2. NM_005622.3. NP_973729.1. NM_202000.2.
UniGene	Hs.706754.
3D structure databases
HSSP	HSSP built from PDB template 1LCI based on UniProtKB P08659.
ProteinModelPortal	Q53FZ2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q53FZ2. 1 interaction.
STRING	9606.ENSP00000289416.
PTM databases
PhosphoSite	Q53FZ2.
Polymorphism databases
DMDM	158706483.
Proteomic databases
PaxDb	Q53FZ2.
PRIDE	Q53FZ2.
Protocols and materials databases
DNASU	6296.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000289416; ENSP00000289416; ENSG00000005187. ENST00000440284; ENSP00000394565; ENSG00000005187.
GeneID	6296.
KEGG	hsa:6296.
UCSC	uc002dhq.3. human. uc002dhr.3. human.
Organism-specific databases
CTD	6296.
GeneCards	GC16P020683.
H-InvDB	HIX0079728. HIX0079834.
HGNC	HGNC:10522. ACSM3.
HPA	HPA041013.
MIM	145505. gene.
neXtProt	NX_Q53FZ2.
PharmGKB	PA34930.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0365.
HOGENOM	HOG000229982.
HOVERGEN	HBG053031.
InParanoid	Q53FZ2.
KO	K01896.
OMA	FKLGIPE.
OrthoDB	EOG4ZPDTX.
PhylomeDB	Q53FZ2.
Gene expression databases
ArrayExpress	Q53FZ2.
Bgee	Q53FZ2.
CleanEx	HS_ACSM3.
Genevestigator	Q53FZ2.
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
ChiTaRS	ACSM3. human.
GenomeRNAi	6296.
NextBio	24443.
SOURCE	Search...

Entry information

Entry name

ACSM3_HUMAN

Accession

Primary (citable) accession number: Q53FZ2
Secondary accession number(s): O60363 , Q13732, Q15425, Q7KYM6, Q9BUA2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	October 2, 2007
Last modified:	May 1, 2013
This is version 74 of the entry and version 2 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.