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Q6P461

- ACSM6_HUMAN

UniProt

Q6P461 - ACSM6_HUMAN

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Protein

Acyl-coenzyme A synthetase ACSM6, mitochondrial

Gene
ACSM6, C10orf129
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Catalytic activityi

ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.

Cofactori

Magnesium By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei453 – 4531ATP By similarity
Binding sitei468 – 4681ATP By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi226 – 2349ATP By similarity
Nucleotide bindingi366 – 3716ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. butyrate-CoA ligase activity Source: UniProtKB-EC
  3. GTP binding Source: UniProtKB-KW
  4. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. fatty acid metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

ATP-binding, GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Acyl-coenzyme A synthetase ACSM6, mitochondrial (EC:6.2.1.2)
Alternative name(s):
Acyl-CoA synthetase medium-chain family member 6
Gene namesi
Name:ACSM6
Synonyms:C10orf129
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:31665. ACSM6.

Subcellular locationi

Mitochondrion Reviewed prediction

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134905303.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2121Mitochondrion Reviewed predictionAdd
BLAST
Chaini22 – 480459Acyl-coenzyme A synthetase ACSM6, mitochondrialPRO_0000337112Add
BLAST

Proteomic databases

PaxDbiQ6P461.
PRIDEiQ6P461.

Expressioni

Gene expression databases

BgeeiQ6P461.
CleanExiHS_C10orf129.
GenevestigatoriQ6P461.

Organism-specific databases

HPAiHPA044593.

Interactioni

Subunit structurei

Monomer By similarity.

Structurei

3D structure databases

ProteinModelPortaliQ6P461.
SMRiQ6P461. Positions 43-480.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0365.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ6P461.
OMAiDTCALSH.
PhylomeDBiQ6P461.
TreeFamiTF354287.

Family and domain databases

InterProiIPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6P461-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MLGRFQPFSL VRSFRLGFEA CCYPNQKCAT QTIRPPDSRC LVQAVSQNFN    50
FAKDVLDQWS QLEKDGLRGP YPALWKVSAK GEEDKWSFER MTQLSKKAAS 100
ILSDTCALSH GDRLMIILPP TPEAYWICLA CVRLGITFVP GSPQLTAKKI 150
RYQLRMSKAQ CIVANEAMAP VVNSAVSDCP TLKTKLLVSD KSYDGWLDFK 200
KLIQVAPPKQ TYMRTKSQDP MAIFFTKGTT GAPKMVEYSQ YGLGMGFSQA 250
SRRWMDLQPT DVLWSLGDAF GGSLSLSAVL GTWFQGACVF LCHMPTFCPE 300
TVLNVLSRFP ITTLSANPEM YQELLQHKCF TSYRFKSLKQ CVAAGGPISP 350
GVIEDWKRIT KLDIYEGYGQ TETGLLCATS KTIKLKPSSL GKPLPPYIVQ 400
IVDENSNLLP PGEEGNIAIR IKLNQPASLY CPHMVSWEEY ASARGHMLYL 450
TGDRGIMDED GYFWWSGRVD DVANALGQRL 480
Length:480
Mass (Da):53,585
Last modified:April 20, 2010 - v3
Checksum:iE33F51846DBB8253
GO
Isoform 2 (identifier: Q6P461-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:186
Mass (Da):20,652
Checksum:i93323F48E79B68D7
GO
Isoform 3 (identifier: Q6P461-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: D → DNGLQLHPCCCKRQDFILFHGVIFHVD

Note: No experimental confirmation available.

Show »
Length:506
Mass (Da):56,608
Checksum:iE96BD6FED71EFCD9
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191E → G.1 Publication
Corresponds to variant rs591157 [ dbSNP | Ensembl ].
VAR_063090
Natural varianti40 – 401C → S.1 Publication
Corresponds to variant rs11188225 [ dbSNP | Ensembl ].
VAR_063091
Natural varianti227 – 2271K → R.
Corresponds to variant rs7090248 [ dbSNP | Ensembl ].
VAR_043606

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 155155Missing in isoform 2. VSP_033908Add
BLAST
Alternative sequencei65 – 651D → DNGLQLHPCCCKRQDFILFH GVIFHVD in isoform 3. VSP_033909
Alternative sequencei332 – 34110SYRFKSLKQC → RVYSVPLPKQ in isoform 2. VSP_033910
Alternative sequencei342 – 480139Missing in isoform 2. VSP_033911Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7440.2. [Q6P461-1]
RefSeqiNP_997204.2. NM_207321.2. [Q6P461-1]
UniGeneiHs.134229.

Genome annotation databases

EnsembliENST00000341686; ENSP00000340296; ENSG00000173124. [Q6P461-1]
ENST00000394005; ENSP00000377573; ENSG00000173124. [Q6P461-1]
ENST00000430183; ENSP00000400368; ENSG00000173124. [Q6P461-2]
GeneIDi142827.
KEGGihsa:142827.
UCSCiuc001kke.3. human. [Q6P461-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS7440.2. [Q6P461-1 ]
RefSeqi NP_997204.2. NM_207321.2. [Q6P461-1 ]
UniGenei Hs.134229.

3D structure databases

ProteinModelPortali Q6P461.
SMRi Q6P461. Positions 43-480.
ModBasei Search...
MobiDBi Search...

Proteomic databases

PaxDbi Q6P461.
PRIDEi Q6P461.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000341686 ; ENSP00000340296 ; ENSG00000173124 . [Q6P461-1 ]
ENST00000394005 ; ENSP00000377573 ; ENSG00000173124 . [Q6P461-1 ]
ENST00000430183 ; ENSP00000400368 ; ENSG00000173124 . [Q6P461-2 ]
GeneIDi 142827.
KEGGi hsa:142827.
UCSCi uc001kke.3. human. [Q6P461-1 ]

Organism-specific databases

CTDi 142827.
GeneCardsi GC10P096953.
HGNCi HGNC:31665. ACSM6.
HPAi HPA044593.
neXtProti NX_Q6P461.
PharmGKBi PA134905303.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0365.
HOGENOMi HOG000229982.
HOVERGENi HBG053031.
InParanoidi Q6P461.
OMAi DTCALSH.
PhylomeDBi Q6P461.
TreeFami TF354287.

Miscellaneous databases

GenomeRNAii 142827.
NextBioi 84625.
PROi Q6P461.

Gene expression databases

Bgeei Q6P461.
CleanExi HS_C10orf129.
Genevestigatori Q6P461.

Family and domain databases

InterProi IPR000873. AMP-dep_Synth/Lig.
[Graphical view ]
Pfami PF00501. AMP-binding. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.

Entry informationi

Entry nameiACSM6_HUMAN
AccessioniPrimary (citable) accession number: Q6P461
Secondary accession number(s): A4FU95
, A4IF38, Q5VZX2, Q6ZTX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: April 20, 2010
Last modified: September 3, 2014
This is version 69 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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