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Q6P461 (ACSM6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acyl-coenzyme A synthetase ACSM6, mitochondrial

EC=6.2.1.2
Gene names
Name:ACSM6
Synonyms:C10orf129
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length480 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 processFatty acid metabolism
Lipid metabolism
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransit peptide
   LigandATP-binding
GTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionLigase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processfatty acid metabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionATP 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: UniProtKB-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2121Mitochondrion Potential
Chain22 – 480459Acyl-coenzyme A synthetase ACSM6, mitochondrial
PRO_0000337112

Regions

Nucleotide binding226 – 2349ATP By similarity
Nucleotide binding366 – 3716ATP By similarity

Sites

Binding site4531ATP By similarity
Binding site4681ATP By similarity

Natural variations

Alternative sequence1 – 155155Missing in isoform 2.
VSP_033908
Alternative sequence651D → DNGLQLHPCCCKRQDFILFH GVIFHVD in isoform 3.
VSP_033909
Alternative sequence332 – 34110SYRFKSLKQC → RVYSVPLPKQ in isoform 2.
VSP_033910
Alternative sequence342 – 480139Missing in isoform 2.
VSP_033911
Natural variant191E → G. Ref.3
Corresponds to variant rs591157 [ dbSNP | Ensembl ].
VAR_063090
Natural variant401C → S. Ref.3
Corresponds to variant rs11188225 [ dbSNP | Ensembl ].
VAR_063091
Natural variant2271K → R.
Corresponds to variant rs7090248 [ dbSNP | Ensembl ].
VAR_043606

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 20, 2010. Version 3.
Checksum: E33F51846DBB8253

FASTA48053,585
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 93323F48E79B68D7
Show »

FASTA18620,652
Isoform 3 [UniParc].

Checksum: E96BD6FED71EFCD9
Show »

FASTA50656,608

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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS7440.2. [Q6P461-1]
RefSeqNP_997204.2. NM_207321.2. [Q6P461-1]
UniGeneHs.134229.

3D structure databases

ProteinModelPortalQ6P461.
SMRQ6P461. Positions 43-480.
ModBaseSearch...
MobiDBSearch...

Proteomic databases

PaxDbQ6P461.
PRIDEQ6P461.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341686; ENSP00000340296; ENSG00000173124. [Q6P461-1]
ENST00000394005; ENSP00000377573; ENSG00000173124. [Q6P461-1]
ENST00000430183; ENSP00000400368; ENSG00000173124. [Q6P461-2]
GeneID142827.
KEGGhsa:142827.
UCSCuc001kke.3. human. [Q6P461-1]

Organism-specific databases

CTD142827.
GeneCardsGC10P096953.
HGNCHGNC:31665. C10orf129.
HPAHPA044593.
neXtProtNX_Q6P461.
PharmGKBPA134905303.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0365.
HOGENOMHOG000229982.
HOVERGENHBG053031.
InParanoidQ6P461.
OMADTCALSH.
PhylomeDBQ6P461.
TreeFamTF354287.

Gene expression databases

BgeeQ6P461.
CleanExHS_C10orf129.
GenevestigatorQ6P461.

Family and domain databases

InterProIPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi142827.
NextBio84625.
PROQ6P461.

Entry information

Entry nameACSM6_HUMAN
AccessionPrimary (citable) accession number: Q6P461
Secondary accession number(s): A4FU95 expand/collapse secondary AC list , A4IF38, Q5VZX2, Q6ZTX1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: April 20, 2010
Last modified: July 9, 2014
This is version 68 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM