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Q69ZF3

- GBA2_MOUSE

UniProt

Q69ZF3 - GBA2_MOUSE

Protein

Non-lysosomal glucosylceramidase

Gene

Gba2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 2 (03 Apr 2007)
      Previous versions | rss
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    Functioni

    Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development By similarity. Required for proper formation of motor neuron axons By similarity.By similarity

    Catalytic activityi

    D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.1 Publication

    Enzyme regulationi

    Enzymatic activity is dependent on membrane association and requires the presence of lipids.1 Publication

    GO - Molecular functioni

    1. beta-glucosidase activity Source: UniProtKB
    2. glucosylceramidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. central nervous system neuron development Source: UniProtKB
    2. glucosylceramide catabolic process Source: InterPro

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Keywords - Biological processi

    Lipid metabolism, Sphingolipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_199008. Glycosphingolipid metabolism.

    Protein family/group databases

    CAZyiGH116. Glycoside Hydrolase Family 116.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Non-lysosomal glucosylceramidase (EC:3.2.1.45)
    Short name:
    NLGase
    Alternative name(s):
    Beta-glucocerebrosidase 2
    Short name:
    Beta-glucosidase 2
    Glucosylceramidase 2
    Gene namesi
    Name:Gba2
    Synonyms:Kiaa1605
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 4

    Organism-specific databases

    MGIiMGI:2654325. Gba2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication. Golgi apparatus membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
    Note: Not localized to lipid rafts.By similarity

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. Golgi membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: InterPro

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    Mice have a normal bile acid metabolism but males exhibit impaired fertility due to glucosylceramides accumulation.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 918918Non-lysosomal glucosylceramidasePRO_0000283759Add
    BLAST

    Proteomic databases

    PaxDbiQ69ZF3.
    PRIDEiQ69ZF3.

    PTM databases

    PhosphoSiteiQ69ZF3.

    Expressioni

    Tissue specificityi

    Widely expressed at low level. Highly expressed in testis and brain.2 Publications

    Gene expression databases

    ArrayExpressiQ69ZF3.
    BgeeiQ69ZF3.
    CleanExiMM_GBA2.
    GenevestigatoriQ69ZF3.

    Interactioni

    Structurei

    3D structure databases

    ProteinModelPortaliQ69ZF3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG4354.
    GeneTreeiENSGT00390000010998.
    HOGENOMiHOG000234168.
    HOVERGENiHBG105975.
    InParanoidiQ69ZF3.
    KOiK17108.
    OMAiYQLPGQN.
    OrthoDBiEOG7ZGX2B.
    PhylomeDBiQ69ZF3.
    TreeFamiTF313888.

    Family and domain databases

    InterProiIPR008928. 6-hairpin_glycosidase-like.
    IPR014551. Beta_glucosidase_GBA2-type.
    IPR024462. GBA2_N.
    IPR006775. Glucosylceramidase.
    [Graphical view]
    PfamiPF04685. DUF608. 1 hit.
    PF12215. GBA2_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF028944. Beta_gluc_GBA2. 1 hit.
    SUPFAMiSSF48208. SSF48208. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q69ZF3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVTCVPASEQ VGCAERDSQV YCEDTGGTEA VRVTDCGSPE DSGPQDEPSY    50
    CNSEDSGQLM ASYEGKARGY QVPPFGWRIC LAHEFAEKRR PFQANNISLS 100
    NLVKHLGMGL RYLKWWYRKT HVEKKTPFID MLNSLPLRQI YGCPLGGIGG 150
    GTITRGWRGQ FCRWQLNPGM YQHQTVIADQ FIVCLRRDGR TVYQQVLSLE 200
    LPNVLRSWNW GLCGYFAFYH ALYPRAWTVY QLPGQNVTLT CRQVTPILPH 250
    DYQDSSLPVG VFVWDVENEG DETLDVSITF SMRNGLGGED DAAGSLWNEP 300
    FRLEQGGTTV QGLLLHHPTP PNPYTMAVAA RCTADTTVTH TTAFDPNGTG 350
    QQVWQDLLQD GQLDSPAGQS TPTQKGEGIA GAVCVSSKLL PRSRCCLEFS 400
    LAWDMPKIMF GAKSQVHYRR YTRFFGSDGD VAPALSHYAL CHYADWEDRI 450
    SAWQNPVLDD RTLPAWYKSA LFNELYFLAD GGTVWLEVPA DSLPEGLGGS 500
    MRQLRSTLQD YGRFGYLEGQ EYRMYNTYDV HFYASFALVM LWPKLELSLQ 550
    YDMALATLKE DLTRRRYLMS GVVAPVKRRN VIPHDIGDPD DEPWLRVNAY 600
    LIHDTADWKD LNLKFVLQIY RDYYLTGDQG FLEDMWPVCL AVMESEMKFD 650
    KDQDGLIENG GYADQTYDAW VTTGPSAYCG GLWLAAVAVM VQMAVLCGAQ 700
    DVQERFASIL CRGREAYERL LWNGRYYNYD SSSHPQSRSI MSDQCAGQWF 750
    LRACGLGEGD TEVFPTLHVV RALQTIFELN VQAFAGGAMG AVNGMHPHGV 800
    PDRSSVQSDE VWVGVVYGLA ATMIQEGLTW EGFRTAEGCY RTVWERLGLA 850
    FQTPEAYCQQ QVFRSLAYMR PLSIWAMQLA LQQQQHKKSR RPSVTQGTGL 900
    STQPECGPKR SLANLNSE 918
    Length:918
    Mass (Da):103,294
    Last modified:April 3, 2007 - v2
    Checksum:iEABE7B50B96B0B59
    GO

    Sequence cautioni

    The sequence BAD32491.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti385 – 3851V → I in BAC40785. (PubMed:16141072)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK173213 mRNA. Translation: BAD32491.1. Different initiation.
    AK089192 mRNA. Translation: BAC40785.1.
    AL732626 Genomic DNA. Translation: CAM17042.1.
    BC056935 mRNA. Translation: AAH56935.1.
    CCDSiCCDS18103.1.
    RefSeqiNP_766280.2. NM_172692.3.
    UniGeneiMm.229444.

    Genome annotation databases

    EnsembliENSMUST00000030189; ENSMUSP00000030189; ENSMUSG00000028467.
    GeneIDi230101.
    KEGGimmu:230101.
    UCSCiuc008sqi.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK173213 mRNA. Translation: BAD32491.1 . Different initiation.
    AK089192 mRNA. Translation: BAC40785.1 .
    AL732626 Genomic DNA. Translation: CAM17042.1 .
    BC056935 mRNA. Translation: AAH56935.1 .
    CCDSi CCDS18103.1.
    RefSeqi NP_766280.2. NM_172692.3.
    UniGenei Mm.229444.

    3D structure databases

    ProteinModelPortali Q69ZF3.
    ModBasei Search...
    MobiDBi Search...

    Chemistry

    BindingDBi Q69ZF3.
    ChEMBLi CHEMBL5614.

    Protein family/group databases

    CAZyi GH116. Glycoside Hydrolase Family 116.

    PTM databases

    PhosphoSitei Q69ZF3.

    Proteomic databases

    PaxDbi Q69ZF3.
    PRIDEi Q69ZF3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000030189 ; ENSMUSP00000030189 ; ENSMUSG00000028467 .
    GeneIDi 230101.
    KEGGi mmu:230101.
    UCSCi uc008sqi.2. mouse.

    Organism-specific databases

    CTDi 57704.
    MGIi MGI:2654325. Gba2.
    Rougei Search...

    Phylogenomic databases

    eggNOGi COG4354.
    GeneTreei ENSGT00390000010998.
    HOGENOMi HOG000234168.
    HOVERGENi HBG105975.
    InParanoidi Q69ZF3.
    KOi K17108.
    OMAi YQLPGQN.
    OrthoDBi EOG7ZGX2B.
    PhylomeDBi Q69ZF3.
    TreeFami TF313888.

    Enzyme and pathway databases

    Reactomei REACT_199008. Glycosphingolipid metabolism.

    Miscellaneous databases

    NextBioi 379792.
    PROi Q69ZF3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q69ZF3.
    Bgeei Q69ZF3.
    CleanExi MM_GBA2.
    Genevestigatori Q69ZF3.

    Family and domain databases

    InterProi IPR008928. 6-hairpin_glycosidase-like.
    IPR014551. Beta_glucosidase_GBA2-type.
    IPR024462. GBA2_N.
    IPR006775. Glucosylceramidase.
    [Graphical view ]
    Pfami PF04685. DUF608. 1 hit.
    PF12215. GBA2_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF028944. Beta_gluc_GBA2. 1 hit.
    SUPFAMi SSF48208. SSF48208. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H., Nagase T., Ohara O., Koga H.
      DNA Res. 11:205-218(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thymus.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: NOD.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    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].
      Strain: C57BL/6.
      Tissue: Brain.
    5. "Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility."
      Yildiz Y., Matern H., Thompson B., Allegood J.C., Warren R.L., Ramirez D.M.O., Hammer R.E., Hamra F.K., Matern S., Russell D.W.
      J. Clin. Invest. 116:2985-2994(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY.
    6. "The non-lysosomal beta-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi."
      Korschen H.G., Yildiz Y., Raju D.N., Schonauer S., Bonigk W., Jansen V., Kremmer E., Kaupp U.B., Wachten D.
      J. Biol. Chem. 288:3381-3393(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, CATALYTIC ACTIVITY, ENZYME REGULATION.

    Entry informationi

    Entry nameiGBA2_MOUSE
    AccessioniPrimary (citable) accession number: Q69ZF3
    Secondary accession number(s): Q6PGM3, Q8BTN9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 3, 2007
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 80 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3