Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q6P461

- ACSM6_HUMAN

UniProt

Q6P461 - ACSM6_HUMAN

Protein

Acyl-coenzyme A synthetase ACSM6, mitochondrial

Gene

ACSM6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 70 (01 Oct 2014)
      Sequence version 3 (20 Apr 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 – 4531ATPBy similarity
    Binding sitei468 – 4681ATPBy similarity

    Regions

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

    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

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134905303.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2121MitochondrionSequence AnalysisAdd
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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. 1 PublicationVSP_033908Add
    BLAST
    Alternative sequencei65 – 651D → DNGLQLHPCCCKRQDFILFH GVIFHVD in isoform 3. 1 PublicationVSP_033909
    Alternative sequencei332 – 34110SYRFKSLKQC → RVYSVPLPKQ in isoform 2. 1 PublicationVSP_033910
    Alternative sequencei342 – 480139Missing in isoform 2. 1 PublicationVSP_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]
    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 ]
    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: October 1, 2014
    This is version 70 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