Reviewed, UniProtKB/Swiss-Prot Q6P461 (ACSM6_HUMAN)

Names and origin

Protein names

Recommended name:
    Acyl-coenzyme A synthetase ACSM6, mitochondrial
    EC=6.2.1.2

Gene names

Name:	ACSM6
Synonyms:	C10orf129

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	480 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)

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 Potential.
Sequence similarities	Belongs to the ATP-dependent AMP-binding enzyme family.
Sequence caution	The sequence CAH72344.1 differs from that shown. Reason: Erroneous gene model prediction.

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	mitochondrion 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 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6P461-1)

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: Q6P461-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.
     332-341: SYRFKSLKQC → RVYSVPLPKQ
     342-480: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q6P461-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-90: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 21	21	Mitochondrion Potential
	Chain	22 – 480	459	Acyl-coenzyme A synthetase ACSM6, mitochondrial		PRO_0000337112
Regions
	Nucleotide binding	226 – 234	9	ATP By similarity
	Nucleotide binding	366 – 371	6	ATP By similarity
Sites
	Binding site	453	1	ATP By similarity
	Binding site	468	1	ATP By similarity
Natural variations
	Alternative sequence	1 – 155	155	Missing in isoform 2.		VSP_033908
	Alternative sequence	1 – 90	90	Missing in isoform 3.		VSP_033909
	Alternative sequence	332 – 341	10	SYRFKSLKQC → RVYSVPLPKQ in isoform 2.		VSP_033910
	Alternative sequence	342 – 480	139	Missing in isoform 2.		VSP_033911
	Natural variant	227	1	K → R: dbSNP rs7090248.		VAR_043606

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 20, 2008. Version 2. Checksum: 06ED25FE5020DF16	FASTA	480	53,497
	10 20 30 40 50 60 MLGRFQPFSL VRSFRLGFGA CCYPNQKCAT QTIRPPDSRS LVQAVSQNFN FAKDVLDQWS 70 80 90 100 110 120 QLEKDGLRGP YPALWKVSAK GEEDKWSFER MTQLSKKAAS ILSDTCALSH GDRLMIILPP 130 140 150 160 170 180 TPEAYWICLA CVRLGITFVP GSPQLTAKKI RYQLRMSKAQ CIVANEAMAP VVNSAVSDCP 190 200 210 220 230 240 TLKTKLLVSD KSYDGWLDFK KLIQVAPPKQ TYMRTKSQDP MAIFFTKGTT GAPKMVEYSQ 250 260 270 280 290 300 YGLGMGFSQA SRRWMDLQPT DVLWSLGDAF GGSLSLSAVL GTWFQGACVF LCHMPTFCPE 310 320 330 340 350 360 TVLNVLSRFP ITTLSANPEM YQELLQHKCF TSYRFKSLKQ CVAAGGPISP GVIEDWKRIT 370 380 390 400 410 420 KLDIYEGYGQ TETGLLCATS KTIKLKPSSL GKPLPPYIVQ IVDENSNLLP PGEEGNIAIR 430 440 450 460 470 480 IKLNQPASLY CPHMVSWEEY ASARGHMLYL TGDRGIMDED GYFWWSGRVD DVANALGQRL
	Isoform 2. Checksum: 93323F48E79B68D7	FASTA	186	20,652
	10 20 30 40 50 60 MSKAQCIVAN EAMAPVVNSA VSDCPTLKTK LLVSDKSYDG WLDFKKLIQV APPKQTYMRT 70 80 90 100 110 120 KSQDPMAIFF TKGTTGAPKM VEYSQYGLGM GFSQASRRWM DLQPTDVLWS LGDAFGGSLS 130 140 150 160 170 180 LSAVLGTWFQ GACVFLCHMP TFCPETVLNV LSRFPITTLS ANPEMYQELL QHKCFTRVYS VPLPKQ
	Isoform 3. Checksum: BA4EF16C5A221042	FASTA	390	43,183
	10 20 30 40 50 60 MTQLSKKAAS ILSDTCALSH GDRLMIILPP TPEAYWICLA CVRLGITFVP GSPQLTAKKI 70 80 90 100 110 120 RYQLRMSKAQ CIVANEAMAP VVNSAVSDCP TLKTKLLVSD KSYDGWLDFK KLIQVAPPKQ 130 140 150 160 170 180 TYMRTKSQDP MAIFFTKGTT GAPKMVEYSQ YGLGMGFSQA SRRWMDLQPT DVLWSLGDAF 190 200 210 220 230 240 GGSLSLSAVL GTWFQGACVF LCHMPTFCPE TVLNVLSRFP ITTLSANPEM YQELLQHKCF 250 260 270 280 290 300 TSYRFKSLKQ CVAAGGPISP GVIEDWKRIT KLDIYEGYGQ TETGLLCATS KTIKLKPSSL 310 320 330 340 350 360 GKPLPPYIVQ IVDENSNLLP PGEEGNIAIR IKLNQPASLY CPHMVSWEEY ASARGHMLYL 370 380 390 TGDRGIMDED GYFWWSGRVD DVANALGQRL

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 2). Tissue: Thymus.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-415 (ISOFORM 3). Tissue: Skin.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK126134 mRNA. Translation: BAC86458.1. AL157834 Genomic DNA. Translation: CAH72344.1. Sequence problems. BC063654 mRNA. Translation: AAH63654.1. BC104210 mRNA. Translation: AAI04211.1. Different initiation. BC104211 mRNA. Translation: AAI04212.1. Different initiation. BC112988 mRNA. Translation: AAI12989.1. Different initiation.
IPI	IPI00789910. IPI00884359. IPI00893318.
RefSeq	NP_997204.2.
UniGene	Hs.134229
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENST00000327739; ENSP00000328491; ENSG00000173124; Homo sapiens. [Genome view] ENST00000341686; ENSP00000340296; ENSG00000173124; Homo sapiens. [Genome view] ENST00000394005; ENSP00000377573; ENSG00000173124; Homo sapiens. [Genome view] ENST00000404473; ENSP00000384922; ENSG00000173124; Homo sapiens. [Genome view] ENST00000430183; ENSP00000400368; ENSG00000173124; Homo sapiens. [Genome view]
GeneID	142827.
KEGG	hsa:142827.
UCSC	uc001kkd.1. human. uc001kke.1. human.
Organism-specific databases
CTD	142827.
GeneCards	GC10P096943.
HGNC	HGNC:31665. C10orf129.
PharmGKB	PA134905303.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q6P461.
Gene expression databases
ArrayExpress	Q6P461.
Bgee	Q6P461.
CleanEx	HS_C10orf129.
Genevestigator	Q6P461.
Family and domain databases
InterPro	IPR000873. AMP-dep_Synth/Lig. [Graphical view]
Pfam	PF00501. AMP-binding. 2 hits. [Graphical view]
PROSITE	PS00455. AMP_BINDING. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	84625.

Entry information

Entry name

ACSM6_HUMAN

Accession

Primary (citable) accession number: Q6P461
Secondary accession number(s): A4FU95 , A4IF38, Q5VZX2, Q6ZTX1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	May 20, 2008
Last modified:	October 13, 2009
This is version 35 of the entry and version 2 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.