Reviewed, UniProtKB/Swiss-Prot Q6NUN0 (ACSM5_HUMAN)

Names and origin

Protein names

Recommended name:
    Acyl-coenzyme A synthetase ACSM5, mitochondrial
    EC=6.2.1.2

Gene names

Name:	ACSM5
Synonyms:	MACS3

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	579 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 C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) By similarity.
Catalytic activity	ATP + an acid + CoA = AMP + diphosphate + an acyl-CoA.
Cofactor	Magnesium or manganese By similarity.
Subcellular location	Mitochondrion matrix By similarity.
Tissue specificity	Detected in kidney and liver. Ref.3
Sequence similarities	Belongs to the ATP-dependent AMP-binding enzyme family.
Sequence caution	The sequence BAA91273.1 differs from that shown. Reason: Frameshift at position 560.

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
Gene Ontology (GO)
Biological process	fatty acid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW GTP binding Inferred from electronic annotation. Source: UniProtKB-KW butyrate-CoA ligase activity Inferred from electronic annotation. Source: EC magnesium 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: Q6NUN0-1)

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: Q6NUN0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     209-579: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 26	26	Mitochondrion Potential
	Chain	27 – 579	553	Acyl-coenzyme A synthetase ACSM5, mitochondrial		PRO_0000306101
Regions
	Nucleotide binding	230 – 238	9	ATP By similarity
	Nucleotide binding	368 – 373	6	ATP By similarity
Sites
	Binding site	455	1	ATP By similarity
	Binding site	470	1	ATP By similarity
	Binding site	566	1	ATP By similarity
Natural variations
	Alternative sequence	209 – 579	371	Missing in isoform 2.		VSP_028398
	Natural variant	65	1	R → Q: dbSNP rs9928053.		VAR_055495
	Natural variant	159	1	Q → H		VAR_035252
	Natural variant	182	1	E → K: dbSNP rs7192210.		VAR_055496
	Natural variant	352	1	P → R: dbSNP rs8062344. Ref.3		VAR_035253
	Natural variant	360	1	H → R: dbSNP rs12931877. Ref.3		VAR_035254
	Natural variant	533	1	T → M: dbSNP rs56308819. Ref.3		VAR_035255
Experimental info
	Sequence conflict	142	1	M → V in AAH16703. Ref.2
	Sequence conflict	231 – 234	4	SGTT → KREPP in BAA91273. Ref.1
	Sequence conflict	502	1	A → V in BAA91273. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 8C3C2CD53CF0053A	FASTA	579	64,732
	10 20 30 40 50 60 MRPWLRHLVL QALRNSRAFC GSHGKPAPLP VPQKIVATWE AISLGRQLVP EYFNFAHDVL 70 80 90 100 110 120 DVWSRLEEAG HRPPNPAFWW VNGTGAEIKW SFEELGKQSR KAANVLGGAC GLQPGDRMML 130 140 150 160 170 180 VLPRLPEWWL VSVACMRTGT VMIPGVTQLT EKDLKYRLQA SRAKSIITSD SLAPRVDAIS 190 200 210 220 230 240 AECPSLQTKL LVSDSSRPGW LNFRELLREA STEHNCMRTK SRDPLAIYFT SGTTGAPKMV 250 260 270 280 290 300 EHSQSSYGLG FVASGRRWVA LTESDIFWNT TDTGWVKAAW TLFSAWPNGS CIFVHELPRV 310 320 330 340 350 360 DAKVILNTLS KFPITTLCCV PTIFRLLVQE DLTRYQFQSL RHCLTGGEAL NPDVREKWKH 370 380 390 400 410 420 QTGVELYEGY GQSETVVICA NPKGMKIKSG SMGKASPPYD VQIVDDEGNV LPPGEEGNVA 430 440 450 460 470 480 VRIRPTRPFC FFNCYLDNPE KTAASEQGDF YITGDRARMD KDGYFWFMGR NDDVINSSSY 490 500 510 520 530 540 RIGPVEVESA LAEHPAVLES AAVSSPDPIR GEVVKAFIVL TPAYSSHDPE ALTRELQEHV 550 560 570 KRVTAPYKYP RKVAFVSELP KTVSGKIQRS KLRSQEWGK
	Isoform 2. Checksum: 5C29746BE07D3E30	FASTA	208	23,320
	10 20 30 40 50 60 MRPWLRHLVL QALRNSRAFC GSHGKPAPLP VPQKIVATWE AISLGRQLVP EYFNFAHDVL 70 80 90 100 110 120 DVWSRLEEAG HRPPNPAFWW VNGTGAEIKW SFEELGKQSR KAANVLGGAC GLQPGDRMML 130 140 150 160 170 180 VLPRLPEWWL VSVACMRTGT VMIPGVTQLT EKDLKYRLQA SRAKSIITSD SLAPRVDAIS 190 200 AECPSLQTKL LVSDSSRPGW LNFRELLR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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). Tissue: Brain and Kidney.
[3]	"An acyl-CoA synthetase gene family in chromosome 16p12 may contribute to multiple risk factors." Iwai N., Mannami T., Tomoike H., Ono K., Iwanaga Y. Hypertension 41:1041-1046(2003) [PubMed: 12654705] [Abstract] Cited for: VARIANTS HIS-159; ARG-352; ARG-360 AND MET-533, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK000588 mRNA. Translation: BAA91273.1. Frameshift. BC013753 mRNA. Translation: AAH13753.1. BC016703 mRNA. Translation: AAH16703.1. BC068516 mRNA. Translation: AAH68516.1.
IPI	IPI00477605. IPI00639980.
RefSeq	NP_060358.2.
UniGene	Hs.659606
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q6NUN0.
Genome annotation databases
Ensembl	ENST00000331849; ENSP00000327916; ENSG00000183549; Homo sapiens. [Genome view]
GeneID	54988.
KEGG	hsa:54988.
UCSC	uc002dhd.1. human. uc002dhe.1. human.
Organism-specific databases
CTD	54988.
GeneCards	GC16P020329.
HGNC	HGNC:26060. ACSM5.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q6NUN0.
HOVERGEN	Q6NUN0.
Enzyme and pathway databases
BRENDA	6.2.1.2. 247.
Gene expression databases
ArrayExpress	Q6NUN0.
Bgee	Q6NUN0.
CleanEx	HS_ACSM5.
Genevestigator	Q6NUN0.
Family and domain databases
InterPro	IPR000873. AMP-dep_Synth/Lig. [Graphical view]
Pfam	PF00501. AMP-binding. 1 hit. [Graphical view]
PROSITE	PS00455. AMP_BINDING. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	58283.

Entry information

Entry name

ACSM5_HUMAN

Accession

Primary (citable) accession number: Q6NUN0
Secondary accession number(s): Q96AV1, Q96CX8, Q9NWV3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	July 5, 2004
Last modified:	November 3, 2009
This is version 45 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.