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O75600

- KBL_HUMAN

UniProt

O75600 - KBL_HUMAN

Protein

2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial

Gene

GCAT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Acetyl-CoA + glycine = CoA + 2-amino-3-oxobutanoate.

    Cofactori

    Pyridoxal phosphate.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei159 – 1591SubstrateBy similarity
    Binding sitei206 – 2061Pyridoxal phosphateBy similarity
    Binding sitei389 – 3891SubstrateBy similarity

    GO - Molecular functioni

    1. glycine C-acetyltransferase activity Source: UniProtKB
    2. pyridoxal phosphate binding Source: InterPro

    GO - Biological processi

    1. biosynthetic process Source: InterPro
    2. cellular amino acid metabolic process Source: UniProtKB
    3. L-threonine catabolic process to glycine Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Ligandi

    Pyridoxal phosphate

    Enzyme and pathway databases

    UniPathwayiUPA00046; UER00506.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (EC:2.3.1.29)
    Short name:
    AKB ligase
    Alternative name(s):
    Aminoacetone synthase
    Glycine acetyltransferase
    Gene namesi
    Name:GCAT
    Synonyms:KBL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:4188. GCAT.

    Subcellular locationi

    Mitochondrion By similarity. Nucleus 1 Publication
    Note: Translocates to the nucleus upon cold and osmotic stress.

    GO - Cellular componenti

    1. mitochondrion Source: HPA
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Mitochondrion, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28603.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2121MitochondrionBy similarityAdd
    BLAST
    Chaini22 – 4193982-amino-3-ketobutyrate coenzyme A ligase, mitochondrialPRO_0000001246Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei45 – 451N6-acetyllysine; alternateBy similarity
    Modified residuei45 – 451N6-succinyllysine; alternateBy similarity
    Modified residuei187 – 1871N6-acetyllysine; alternateBy similarity
    Modified residuei187 – 1871N6-succinyllysine; alternateBy similarity
    Modified residuei265 – 2651N6-(pyridoxal phosphate)lysineCurated
    Modified residuei326 – 3261N6-succinyllysineBy similarity
    Modified residuei368 – 3681N6-succinyllysineBy similarity
    Modified residuei383 – 3831N6-acetyllysine; alternateBy similarity
    Modified residuei383 – 3831N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO75600.
    PaxDbiO75600.
    PRIDEiO75600.

    PTM databases

    PhosphoSiteiO75600.

    Expressioni

    Tissue specificityi

    Strongly expressed in heart, brain, liver and pancreas. Also found in lung.1 Publication

    Gene expression databases

    ArrayExpressiO75600.
    BgeeiO75600.
    CleanExiHS_GCAT.
    GenevestigatoriO75600.

    Organism-specific databases

    HPAiHPA020460.

    Interactioni

    Protein-protein interaction databases

    BioGridi117027. 6 interactions.
    IntActiO75600. 2 interactions.
    STRINGi9606.ENSP00000248924.

    Structurei

    3D structure databases

    ProteinModelPortaliO75600.
    SMRiO75600. Positions 21-418.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni134 – 1352Pyridoxal phosphate bindingBy similarity
    Regioni262 – 2654Pyridoxal phosphate bindingBy similarity
    Regioni295 – 2962Pyridoxal phosphate binding; shared with dimeric partnerBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0156.
    HOGENOMiHOG000221022.
    HOVERGENiHBG105208.
    KOiK00639.
    OMAiICDAHGA.
    OrthoDBiEOG79GT68.
    PhylomeDBiO75600.
    TreeFamiTF105923.

    Family and domain databases

    Gene3Di3.40.640.10. 1 hit.
    3.90.1150.10. 1 hit.
    HAMAPiMF_00985. 2am3keto_CoA_ligase.
    InterProiIPR011282. 2am3keto_CoA_ligase.
    IPR001917. Aminotrans_II_pyridoxalP_BS.
    IPR004839. Aminotransferase_I/II.
    IPR015424. PyrdxlP-dep_Trfase.
    IPR015421. PyrdxlP-dep_Trfase_major_sub1.
    IPR015422. PyrdxlP-dep_Trfase_major_sub2.
    [Graphical view]
    PfamiPF00155. Aminotran_1_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF53383. SSF53383. 1 hit.
    TIGRFAMsiTIGR01822. 2am3keto_CoA. 1 hit.
    PROSITEiPS00599. AA_TRANSFER_CLASS_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O75600-1) [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

    MWPGNAWRAA LFWVPRGRRA QSALAQLRGI LEGELEGIRG AGTWKSERVI    50
    TSRQGPHIRV DGVSGGILNF CANNYLGLSS HPEVIQAGLQ ALEEFGAGLS 100
    SVRFICGTQS IHKNLEAKIA RFHQREDAIL YPSCYDANAG LFEALLTPED 150
    AVLSDELNHA SIIDGIRLCK AHKYRYRHLD MADLEAKLQE AQKHRLRLVA 200
    TDGAFSMDGD IAPLQEICCL ASRYGALVFM DECHATGFLG PTGRGTDELL 250
    GVMDQVTIIN STLGKALGGA SGGYTTGPGP LVSLLRQRAR PYLFSNSLPP 300
    AVVGCASKAL DLLMGSNTIV QSMAAKTQRF RSKMEAAGFT ISGASHPICP 350
    VMLGDARLAS RMADDMLKRG IFVIGFSYPV VPKGKARIRV QISAVHSEED 400
    IDRCVEAFVE VGRLHGALP 419
    Length:419
    Mass (Da):45,285
    Last modified:November 1, 1998 - v1
    Checksum:iC7760699E0474821
    GO
    Isoform 2 (identifier: O75600-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         65-65: G → GGPGTVIFPGLPLPHLSCCIHLLSFTS

    Note: No experimental confirmation available.Curated

    Show »
    Length:445
    Mass (Da):47,974
    Checksum:i5AD82BF1119ADC87
    GO

    Sequence cautioni

    The sequence BAC85552.1 differs from that shown. Reason: Frameshift at position 232.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti387 – 3871R → W in AAH14457. (PubMed:15489334)Curated
    Isoform 2 (identifier: O75600-2)
    Sequence conflicti77 – 771L → S in BAC85552. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391R → C.
    Corresponds to variant rs710187 [ dbSNP | Ensembl ].
    VAR_015094
    Natural varianti100 – 1001S → N.
    Corresponds to variant rs34468367 [ dbSNP | Ensembl ].
    VAR_048229

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei65 – 651G → GGPGTVIFPGLPLPHLSCCI HLLSFTS in isoform 2. 1 PublicationVSP_044607

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF077740 mRNA. Translation: AAC27720.1.
    AK123190 mRNA. Translation: BAC85552.1. Frameshift.
    Z97630 Genomic DNA. Translation: CAB42830.1.
    Z97630 Genomic DNA. Translation: CAX14890.1.
    BC014457 mRNA. Translation: AAH14457.1.
    CCDSiCCDS13957.1. [O75600-1]
    CCDS54527.1. [O75600-2]
    RefSeqiNP_001165161.1. NM_001171690.1. [O75600-2]
    NP_055106.1. NM_014291.3. [O75600-1]
    XP_005261467.1. XM_005261410.2. [O75600-2]
    UniGeneiHs.54609.

    Genome annotation databases

    EnsembliENST00000248924; ENSP00000248924; ENSG00000100116. [O75600-1]
    ENST00000323205; ENSP00000371110; ENSG00000100116. [O75600-2]
    GeneIDi23464.
    KEGGihsa:23464.
    UCSCiuc003atz.3. human. [O75600-1]
    uc003aua.2. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF077740 mRNA. Translation: AAC27720.1 .
    AK123190 mRNA. Translation: BAC85552.1 . Frameshift.
    Z97630 Genomic DNA. Translation: CAB42830.1 .
    Z97630 Genomic DNA. Translation: CAX14890.1 .
    BC014457 mRNA. Translation: AAH14457.1 .
    CCDSi CCDS13957.1. [O75600-1 ]
    CCDS54527.1. [O75600-2 ]
    RefSeqi NP_001165161.1. NM_001171690.1. [O75600-2 ]
    NP_055106.1. NM_014291.3. [O75600-1 ]
    XP_005261467.1. XM_005261410.2. [O75600-2 ]
    UniGenei Hs.54609.

    3D structure databases

    ProteinModelPortali O75600.
    SMRi O75600. Positions 21-418.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117027. 6 interactions.
    IntActi O75600. 2 interactions.
    STRINGi 9606.ENSP00000248924.

    Chemistry

    DrugBanki DB00145. Glycine.

    PTM databases

    PhosphoSitei O75600.

    Proteomic databases

    MaxQBi O75600.
    PaxDbi O75600.
    PRIDEi O75600.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000248924 ; ENSP00000248924 ; ENSG00000100116 . [O75600-1 ]
    ENST00000323205 ; ENSP00000371110 ; ENSG00000100116 . [O75600-2 ]
    GeneIDi 23464.
    KEGGi hsa:23464.
    UCSCi uc003atz.3. human. [O75600-1 ]
    uc003aua.2. human.

    Organism-specific databases

    CTDi 23464.
    GeneCardsi GC22P038203.
    HGNCi HGNC:4188. GCAT.
    HPAi HPA020460.
    MIMi 607422. gene.
    neXtProti NX_O75600.
    PharmGKBi PA28603.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0156.
    HOGENOMi HOG000221022.
    HOVERGENi HBG105208.
    KOi K00639.
    OMAi ICDAHGA.
    OrthoDBi EOG79GT68.
    PhylomeDBi O75600.
    TreeFami TF105923.

    Enzyme and pathway databases

    UniPathwayi UPA00046 ; UER00506 .

    Miscellaneous databases

    GenomeRNAii 23464.
    NextBioi 45781.
    PROi O75600.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75600.
    Bgeei O75600.
    CleanExi HS_GCAT.
    Genevestigatori O75600.

    Family and domain databases

    Gene3Di 3.40.640.10. 1 hit.
    3.90.1150.10. 1 hit.
    HAMAPi MF_00985. 2am3keto_CoA_ligase.
    InterProi IPR011282. 2am3keto_CoA_ligase.
    IPR001917. Aminotrans_II_pyridoxalP_BS.
    IPR004839. Aminotransferase_I/II.
    IPR015424. PyrdxlP-dep_Trfase.
    IPR015421. PyrdxlP-dep_Trfase_major_sub1.
    IPR015422. PyrdxlP-dep_Trfase_major_sub2.
    [Graphical view ]
    Pfami PF00155. Aminotran_1_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53383. SSF53383. 1 hit.
    TIGRFAMsi TIGR01822. 2am3keto_CoA. 1 hit.
    PROSITEi PS00599. AA_TRANSFER_CLASS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of the human and murine 2-amino-3-ketobutyrate coenzyme A ligase cDNAs."
      Edgar A.J., Polak J.M.
      Eur. J. Biochem. 267:1805-1812(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Lung.
    2. "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: Cerebellum.
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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).
      Tissue: Skin.
    5. "Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase by cold and osmotic stress."
      Hoshino A., Fujii H.
      Cell Stress Chaperones 12:186-191(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiKBL_HUMAN
    AccessioniPrimary (citable) accession number: O75600
    Secondary accession number(s): E2QC23, Q6ZWF1, Q96CA9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 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 22
      Human chromosome 22: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3