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Q5FVE4

- ACBG2_HUMAN

UniProt

Q5FVE4 - ACBG2_HUMAN

Protein

Long-chain-fatty-acid--CoA ligase ACSBG2

Gene

ACSBG2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.

    Catalytic activityi

    ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei496 – 4961ATPBy similarity
    Binding sitei624 – 6241ATPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi230 – 2389ATPBy similarity
    Nucleotide bindingi418 – 4236ATPBy similarity

    GO - Molecular functioni

    1. acyl-CoA hydrolase activity Source: MGI
    2. ATP binding Source: UniProtKB-KW
    3. long-chain fatty acid-CoA ligase activity Source: MGI

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. fatty acid metabolic process Source: MGI
    3. long-chain fatty acid metabolic process Source: GOC
    4. multicellular organismal development Source: UniProtKB-KW
    5. spermatogenesis Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein, Ligase

    Keywords - Biological processi

    Differentiation, Fatty acid metabolism, Lipid metabolism, Spermatogenesis

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS05377-MONOMER.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Long-chain-fatty-acid--CoA ligase ACSBG2 (EC:6.2.1.3)
    Alternative name(s):
    Acyl-CoA synthetase bubblegum family member 2
    Bubblegum-related protein
    PRTD-NY3
    Gene namesi
    Name:ACSBG2
    Synonyms:BGR
    ORF Names:UNQ2443/PRO5005
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:24174. ACSBG2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytosol Source: Ensembl
    3. membrane Source: UniProtKB-SubCell
    4. mitochondrion Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi511 – 5111H → R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity. 1 Publication

    Organism-specific databases

    PharmGKBiPA142672649.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 666666Long-chain-fatty-acid--CoA ligase ACSBG2PRO_0000315812Add
    BLAST

    Proteomic databases

    PaxDbiQ5FVE4.
    PRIDEiQ5FVE4.

    PTM databases

    PhosphoSiteiQ5FVE4.

    Expressioni

    Tissue specificityi

    Testis-specific.3 Publications

    Developmental stagei

    Weakly or not expressed in fetal testis. Highly expressed in adult testis and moderately in elderly testis.1 Publication

    Gene expression databases

    ArrayExpressiQ5FVE4.
    BgeeiQ5FVE4.
    CleanExiHS_ACSBG2.
    GenevestigatoriQ5FVE4.

    Organism-specific databases

    HPAiHPA043421.
    HPA051013.

    Interactioni

    Protein-protein interaction databases

    BioGridi123551. 1 interaction.
    STRINGi9606.ENSP00000252669.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5FVE4.
    SMRiQ5FVE4. Positions 45-549.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1022.
    HOVERGENiHBG054660.
    InParanoidiQ5FVE4.
    KOiK15013.
    OMAiQMYTKKK.
    OrthoDBiEOG7B5WVB.
    PhylomeDBiQ5FVE4.

    Family and domain databases

    InterProiIPR020845. AMP-binding_CS.
    IPR000873. AMP-dep_Synth/Lig.
    [Graphical view]
    PfamiPF00501. AMP-binding. 1 hit.
    [Graphical view]
    PROSITEiPS00455. AMP_BINDING. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5FVE4-1) [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

    MTGTPKTQEG AKDLEVDMNK TEVTPRLWTT CRDGEVLLRL SKHGPGHETP    50
    MTIPEFFRES VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL 100
    GLERFHGVGI LGFNSAEWFI TAVGAILAGG LCVGIYATNS AEVCQYVITH 150
    AKVNILLVEN DQQLQKILSI PQSSLEPLKA IIQYRLPMKK NNNLYSWDDF 200
    MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV MLSHDNITWI 250
    AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA 300
    LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR 350
    NIGFKVNSKK MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP 400
    LNQETAEFFL SLDIPIGELY GLSESSGPHT ISNQNNYRLL SCGKILTGCK 450
    NMLFQQNKDG IGEICLWGRH IFMGYLESET ETTEAIDDEG WLHSGDLGQL 500
    DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII SNAMLVGDKL 550
    KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD 600
    PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR 650
    HFVAQKYKKQ IDHMYH 666
    Length:666
    Mass (Da):74,354
    Last modified:May 18, 2010 - v2
    Checksum:i4EE300654EF17150
    GO
    Isoform 2 (identifier: Q5FVE4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:616
    Mass (Da):68,810
    Checksum:i5ECC35717120E1DF
    GO
    Isoform 3 (identifier: Q5FVE4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-187: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:479
    Mass (Da):53,548
    Checksum:i4E2AC26B3F0CC208
    GO
    Isoform 4 (identifier: Q5FVE4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-200: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:466
    Mass (Da):51,891
    Checksum:iDAB7590871FD19F4
    GO

    Sequence cautioni

    The sequence CAE12157.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti71 – 711A → P in AAQ89126. (PubMed:12975309)Curated
    Sequence conflicti332 – 3321K → E in AAG49398. (PubMed:15685348)Curated
    Sequence conflicti595 – 5951I → M in CAE12156. (PubMed:16762313)Curated
    Sequence conflicti595 – 5951I → M in CAE12157. (PubMed:16762313)Curated
    Sequence conflicti595 – 5951I → M in CAB66788. (PubMed:11230166)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti143 – 1431V → A.5 Publications
    Corresponds to variant rs4807840 [ dbSNP | Ensembl ].
    VAR_038317
    Natural varianti152 – 1521K → R.
    Corresponds to variant rs33937754 [ dbSNP | Ensembl ].
    VAR_038318
    Natural varianti584 – 5841G → D.1 Publication
    Corresponds to variant rs17851959 [ dbSNP | Ensembl ].
    VAR_038319
    Natural varianti586 – 5861G → D.1 Publication
    Corresponds to variant rs17851960 [ dbSNP | Ensembl ].
    VAR_038320
    Natural varianti601 – 6011P → R.
    Corresponds to variant rs35609668 [ dbSNP | Ensembl ].
    VAR_038321
    Natural varianti624 – 6241R → K.1 Publication
    Corresponds to variant rs17856650 [ dbSNP | Ensembl ].
    VAR_038322
    Natural varianti626 – 6261E → Q.1 Publication
    Corresponds to variant rs17856651 [ dbSNP | Ensembl ].
    VAR_038323
    Natural varianti650 – 6501R → S.
    Corresponds to variant rs35605352 [ dbSNP | Ensembl ].
    VAR_038324

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 200200Missing in isoform 4. 1 PublicationVSP_030717Add
    BLAST
    Alternative sequencei1 – 187187Missing in isoform 3. 1 PublicationVSP_030718Add
    BLAST
    Alternative sequencei1 – 5050Missing in isoform 2. 1 PublicationVSP_030719Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY009107 mRNA. Translation: AAG49398.1.
    AJ577571 mRNA. Translation: CAE12156.1.
    AJ577571 mRNA. Translation: CAE12157.1. Different initiation.
    AL136854 mRNA. Translation: CAB66788.1.
    AY358766 mRNA. Translation: AAQ89126.1.
    AK057412 mRNA. Translation: BAB71476.1.
    AK093433 mRNA. Translation: BAG52714.1.
    CH471139 Genomic DNA. Translation: EAW69111.1.
    BC022027 mRNA. Translation: AAH22027.1.
    BC090046 mRNA. Translation: AAH90046.1.
    CCDSiCCDS12159.1. [Q5FVE4-1]
    RefSeqiNP_001276106.1. NM_001289177.1. [Q5FVE4-1]
    NP_001276107.1. NM_001289178.1. [Q5FVE4-1]
    NP_001276108.1. NM_001289179.1.
    NP_001276109.1. NM_001289180.1. [Q5FVE4-3]
    NP_112186.3. NM_030924.4. [Q5FVE4-1]
    UniGeneiHs.465720.

    Genome annotation databases

    EnsembliENST00000586696; ENSP00000465589; ENSG00000130377. [Q5FVE4-1]
    ENST00000588304; ENSP00000464938; ENSG00000130377. [Q5FVE4-2]
    ENST00000588485; ENSP00000466336; ENSG00000130377. [Q5FVE4-3]
    ENST00000591403; ENSP00000467755; ENSG00000130377. [Q5FVE4-1]
    GeneIDi81616.
    KEGGihsa:81616.
    UCSCiuc002mee.1. human. [Q5FVE4-1]

    Polymorphism databases

    DMDMi296434386.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY009107 mRNA. Translation: AAG49398.1 .
    AJ577571 mRNA. Translation: CAE12156.1 .
    AJ577571 mRNA. Translation: CAE12157.1 . Different initiation.
    AL136854 mRNA. Translation: CAB66788.1 .
    AY358766 mRNA. Translation: AAQ89126.1 .
    AK057412 mRNA. Translation: BAB71476.1 .
    AK093433 mRNA. Translation: BAG52714.1 .
    CH471139 Genomic DNA. Translation: EAW69111.1 .
    BC022027 mRNA. Translation: AAH22027.1 .
    BC090046 mRNA. Translation: AAH90046.1 .
    CCDSi CCDS12159.1. [Q5FVE4-1 ]
    RefSeqi NP_001276106.1. NM_001289177.1. [Q5FVE4-1 ]
    NP_001276107.1. NM_001289178.1. [Q5FVE4-1 ]
    NP_001276108.1. NM_001289179.1.
    NP_001276109.1. NM_001289180.1. [Q5FVE4-3 ]
    NP_112186.3. NM_030924.4. [Q5FVE4-1 ]
    UniGenei Hs.465720.

    3D structure databases

    ProteinModelPortali Q5FVE4.
    SMRi Q5FVE4. Positions 45-549.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123551. 1 interaction.
    STRINGi 9606.ENSP00000252669.

    PTM databases

    PhosphoSitei Q5FVE4.

    Polymorphism databases

    DMDMi 296434386.

    Proteomic databases

    PaxDbi Q5FVE4.
    PRIDEi Q5FVE4.

    Protocols and materials databases

    DNASUi 81616.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000586696 ; ENSP00000465589 ; ENSG00000130377 . [Q5FVE4-1 ]
    ENST00000588304 ; ENSP00000464938 ; ENSG00000130377 . [Q5FVE4-2 ]
    ENST00000588485 ; ENSP00000466336 ; ENSG00000130377 . [Q5FVE4-3 ]
    ENST00000591403 ; ENSP00000467755 ; ENSG00000130377 . [Q5FVE4-1 ]
    GeneIDi 81616.
    KEGGi hsa:81616.
    UCSCi uc002mee.1. human. [Q5FVE4-1 ]

    Organism-specific databases

    CTDi 81616.
    GeneCardsi GC19P006135.
    H-InvDB HIX0014690.
    HIX0014691.
    HGNCi HGNC:24174. ACSBG2.
    HPAi HPA043421.
    HPA051013.
    MIMi 614363. gene.
    neXtProti NX_Q5FVE4.
    PharmGKBi PA142672649.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1022.
    HOVERGENi HBG054660.
    InParanoidi Q5FVE4.
    KOi K15013.
    OMAi QMYTKKK.
    OrthoDBi EOG7B5WVB.
    PhylomeDBi Q5FVE4.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS05377-MONOMER.

    Miscellaneous databases

    ChiTaRSi ACSBG2. human.
    GeneWikii ACSBG2.
    GenomeRNAii 81616.
    NextBioi 71958.
    PROi Q5FVE4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5FVE4.
    Bgeei Q5FVE4.
    CleanExi HS_ACSBG2.
    Genevestigatori Q5FVE4.

    Family and domain databases

    InterProi IPR020845. AMP-binding_CS.
    IPR000873. AMP-dep_Synth/Lig.
    [Graphical view ]
    Pfami PF00501. AMP-binding. 1 hit.
    [Graphical view ]
    PROSITEi PS00455. AMP_BINDING. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis."
      Zheng Y., Zhou Z.-M., Min X., Li J.-M., Sha J.-H.
      Asian J. Androl. 7:21-32(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT ALA-143.
      Tissue: Testis.
    2. "A novel mammalian bubblegum-related acyl-CoA synthetase restricted to testes and possibly involved in spermatogenesis."
      Fraisl P., Tanaka H., Forss-Petter S., Lassmann H., Nishimune Y., Berger J.
      Arch. Biochem. Biophys. 451:23-33(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-143.
      Tissue: Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-143.
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-143.
    5. "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] (ISOFORMS 1 AND 4).
      Tissue: Testis.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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), VARIANTS ALA-143; ASP-584; ASP-586; LYS-624 AND GLN-626.
      Tissue: Testis.
    8. "The second member of the human and murine 'bubblegum' family is a testis-and brainstem-specific acyl-CoA synthetase."
      Pei Z., Jia Z., Watkins P.A.
      J. Biol. Chem. 281:6632-6641(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF HIS-511.

    Entry informationi

    Entry nameiACBG2_HUMAN
    AccessioniPrimary (citable) accession number: Q5FVE4
    Secondary accession number(s): B3KSF2
    , Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 86 of the entry and version 2 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 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3