Q6P461 (ACSM6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [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	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 + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
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 AAI04211.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAI04212.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAI12989.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. 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 Reference 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 metal 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:
     65-65: D → DNGLQLHPCCCKRQDFILFHGVIFHVD

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	65	1	D → DNGLQLHPCCCKRQDFILFH GVIFHVD 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	19	1	E → G. Ref.3 Corresponds to variant rs591157 [ dbSNP | Ensembl ].		VAR_063090
	Natural variant	40	1	C → S. Ref.3 Corresponds to variant rs11188225 [ dbSNP | Ensembl ].		VAR_063091
	Natural variant	227	1	K → R. Corresponds to variant rs7090248 [ dbSNP | Ensembl ].		VAR_043606

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 20, 2010. Version 3. Checksum: E33F51846DBB8253	FASTA	480	53,585
	10 20 30 40 50 60 MLGRFQPFSL VRSFRLGFEA CCYPNQKCAT QTIRPPDSRC 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 [UniParc]. 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 [UniParc]. Checksum: E96BD6FED71EFCD9	FASTA	506	56,608
	10 20 30 40 50 60 MLGRFQPFSL VRSFRLGFEA CCYPNQKCAT QTIRPPDSRC LVQAVSQNFN FAKDVLDQWS 70 80 90 100 110 120 QLEKDNGLQL HPCCCKRQDF ILFHGVIFHV DGLRGPYPAL WKVSAKGEED KWSFERMTQL 130 140 150 160 170 180 SKKAASILSD TCALSHGDRL MIILPPTPEA YWICLACVRL GITFVPGSPQ LTAKKIRYQL 190 200 210 220 230 240 RMSKAQCIVA NEAMAPVVNS AVSDCPTLKT KLLVSDKSYD GWLDFKKLIQ VAPPKQTYMR 250 260 270 280 290 300 TKSQDPMAIF FTKGTTGAPK MVEYSQYGLG MGFSQASRRW MDLQPTDVLW SLGDAFGGSL 310 320 330 340 350 360 SLSAVLGTWF QGACVFLCHM PTFCPETVLN VLSRFPITTL SANPEMYQEL LQHKCFTSYR 370 380 390 400 410 420 FKSLKQCVAA GGPISPGVIE DWKRITKLDI YEGYGQTETG LLCATSKTIK LKPSSLGKPL 430 440 450 460 470 480 PPYIVQIVDE NSNLLPPGEE GNIAIRIKLN QPASLYCPHM VSWEEYASAR GHMLYLTGDR 490 500 GIMDEDGYFW WSGRVDDVAN ALGQRL

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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-415 (ISOFORM 3), VARIANTS GLY-19 AND SER-40. Tissue: Skin.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. NM_207321.2.
UniGene	Hs.134229.
3D structure databases
ProteinModelPortal	Q6P461.
SMR	Q6P461. Positions 43-480.
ModBase	Search...
Polymorphism databases
DMDM	294862525.
Proteomic databases
PaxDb	Q6P461.
PRIDE	Q6P461.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341686; ENSP00000340296; ENSG00000173124. ENST00000394005; ENSP00000377573; ENSG00000173124. ENST00000430183; ENSP00000400368; ENSG00000173124.
GeneID	142827.
KEGG	hsa:142827.
UCSC	uc001kke.3. human.
Organism-specific databases
CTD	142827.
GeneCards	GC10P096953.
HGNC	HGNC:31665. C10orf129.
HPA	HPA044593.
neXtProt	NX_Q6P461.
PharmGKB	PA134905303.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0365.
HOGENOM	HOG000229982.
HOVERGEN	HBG053031.
InParanoid	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. 1 hit. [Graphical view]
PROSITE	PS00455. AMP_BINDING. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	142827.
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:	April 20, 2010
Last modified:	May 1, 2013
This is version 61 of the entry and version 3 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.