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Protein

Non-lysosomal glucosylceramidase

Gene

GBA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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. Required for proper formation of motor neuron axons.2 Publications

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.By similarity

Kineticsi

  1. KM=1.7 µM for 3-beta-D-glucosido-lithocholic1 Publication
  2. KM=6.2 µM for 3-beta-D-glucosido-chenodeoxycholic1 Publication
  3. KM=210 µM for beta-D-glucoside1 Publication

    GO - Molecular functioni

    • beta-glucosidase activity Source: UniProtKB
    • glucosylceramidase activity Source: UniProtKB-EC

    GO - Biological processi

    • bile acid metabolic process Source: UniProtKB
    • central nervous system neuron development Source: UniProtKB
    • glucosylceramide catabolic process Source: InterPro
    • glycoside catabolic process Source: UniProtKB
    • glycosphingolipid metabolic process Source: Reactome
    • small molecule metabolic process Source: Reactome
    • sphingolipid metabolic process Source: Reactome
    Complete GO annotation...

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Keywords - Biological processi

    Lipid metabolism, Sphingolipid metabolism

    Enzyme and pathway databases

    BRENDAi3.2.1.45. 2681.
    ReactomeiREACT_116105. Glycosphingolipid metabolism.
    SABIO-RKQ9HCG7.

    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
    ORF Names:AD035
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640 Componenti: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:18986. GBA2.

    Subcellular locationi

    GO - Cellular componenti

    • endoplasmic reticulum membrane Source: UniProtKB-SubCell
    • Golgi membrane Source: UniProtKB-SubCell
    • integral component of membrane Source: UniProtKB
    • plasma membrane Source: Reactome
    • smooth endoplasmic reticulum Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 46, autosomal recessive (SPG46)2 Publications

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionA neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.

    See also OMIM:614409
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti630 – 6301R → W in SPG46. 1 Publication
    VAR_069634
    Natural varianti873 – 8731R → H in SPG46. 1 Publication
    VAR_069635

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi614409. phenotype.
    Orphaneti352641. Autosomal recessive cerebellar ataxia with late-onset spasticity.
    320391. Autosomal recessive spastic paraplegia type 46.
    PharmGKBiPA38773.

    Polymorphism and mutation databases

    BioMutaiGBA2.
    DMDMi143018392.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 927927Non-lysosomal glucosylceramidasePRO_0000283758Add
    BLAST

    Proteomic databases

    MaxQBiQ9HCG7.
    PaxDbiQ9HCG7.
    PRIDEiQ9HCG7.

    PTM databases

    PhosphoSiteiQ9HCG7.

    Expressioni

    Tissue specificityi

    Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver.1 Publication

    Gene expression databases

    BgeeiQ9HCG7.
    CleanExiHS_GBA2.
    ExpressionAtlasiQ9HCG7. baseline and differential.
    GenevestigatoriQ9HCG7.

    Organism-specific databases

    HPAiHPA024026.

    Interactioni

    Protein-protein interaction databases

    BioGridi121728. 2 interactions.
    IntActiQ9HCG7. 1 interaction.
    MINTiMINT-6630061.
    STRINGi9606.ENSP00000367343.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCG7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG4354.
    GeneTreeiENSGT00390000010998.
    HOVERGENiHBG105975.
    InParanoidiQ9HCG7.
    KOiK17108.
    OrthoDBiEOG7ZGX2B.
    PhylomeDBiQ9HCG7.
    TreeFamiTF313888.

    Family and domain databases

    InterProiIPR008928. 6-hairpin_glycosidase-like.
    IPR014551. B_Glucosidase_GBA2-typ.
    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. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q9HCG7-1) [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

            10         20         30         40         50
    MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED
    60 70 80 90 100
    SRPPKETDCC NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP
    110 120 130 140 150
    FQANNVSLSN MIKHIGMGLR YLQWWYRKTH VEKKTPFIDM INSVPLRQIY
    160 170 180 190 200
    GCPLGGIGGG TITRGWRGQF CRWQLNPGMY QHRTVIADQF TVCLRREGQT
    210 220 230 240 250
    VYQQVLSLER PSVLRSWNWG LCGYFAFYHA LYPRAWTVYQ LPGQNVTLTC
    260 270 280 290 300
    RQITPILPHD YQDSSLPVGV FVWDVENEGD EALDVSIMFS MRNGLGGGDD
    310 320 330 340 350
    APGGLWNEPF CLERSGETVR GLLLHHPTLP NPYTMAVAAR VTAATTVTHI
    360 370 380 390 400
    TAFDPDSTGQ QVWQDLLQDG QLDSPTGQST PTQKGVGIAG AVCVSSKLRP
    410 420 430 440 450
    RGQCRLEFSL AWDMPRIMFG AKGQVHYRRY TRFFGQDGDA APALSHYALC
    460 470 480 490 500
    RYAEWEERIS AWQSPVLDDR SLPAWYKSAL FNELYFLADG GTVWLEVLED
    510 520 530 540 550
    SLPEELGRNM CHLRPTLRDY GRFGYLEGQE YRMYNTYDVH FYASFALIML
    560 570 580 590 600
    WPKLELSLQY DMALATLRED LTRRRYLMSG VMAPVKRRNV IPHDIGDPDD
    610 620 630 640 650
    EPWLRVNAYL IHDTADWKDL NLKFVLQVYR DYYLTGDQNF LKDMWPVCLA
    660 670 680 690 700
    VMESEMKFDK DHDGLIENGG YADQTYDGWV TTGPSAYCGG LWLAAVAVMV
    710 720 730 740 750
    QMAALCGAQD IQDKFSSILS RGQEAYERLL WNGRYYNYDS SSRPQSRSVM
    760 770 780 790 800
    SDQCAGQWFL KACGLGEGDT EVFPTQHVVR ALQTIFELNV QAFAGGAMGA
    810 820 830 840 850
    VNGMQPHGVP DKSSVQSDEV WVGVVYGLAA TMIQEGLTWE GFQTAEGCYR
    860 870 880 890 900
    TVWERLGLAF QTPEAYCQQR VFRSLAYMRP LSIWAMQLAL QQQQHKKASW
    910 920
    PKVKQGTGLR TGPMFGPKEA MANLSPE
    Length:927
    Mass (Da):104,649
    Last modified:April 3, 2007 - v2
    Checksum:i1F6879D6E20A2B1D
    GO
    Isoform 2 (identifier: Q9HCG7-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         836-927: GLTWEGFQTA...KEAMANLSPE → LLPSGFCLWV...VEVALQRVPS

    Note: No experimental confirmation available.

    Show »
    Length:877
    Mass (Da):98,737
    Checksum:i1AF652DAF751EAA5
    GO
    Isoform 3 (identifier: Q9HCG7-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-287: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:640
    Mass (Da):72,111
    Checksum:iC4DA432626E5B7FD
    GO

    Sequence cautioni

    The sequence AAG44660.1 differs from that shown. Reason: Frameshift at positions 649 and 691. Curated
    The sequence BAB13431.1 differs from that shown. Reason: Erroneous initiation. Curated

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti60 – 601C → Y in BAB55430 (PubMed:14702039).Curated
    Sequence conflicti222 – 2221C → R in BAB55430 (PubMed:14702039).Curated
    Sequence conflicti482 – 4821N → K in BAB55430 (PubMed:14702039).Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti630 – 6301R → W in SPG46. 1 Publication
    VAR_069634
    Natural varianti873 – 8731R → H in SPG46. 1 Publication
    VAR_069635

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 287287Missing in isoform 3. 1 PublicationVSP_024383Add
    BLAST
    Alternative sequencei836 – 92792GLTWE…NLSPE → LLPSGFCLWVIVISSTCWEL LEGKDSTASIYPVEVALQRV PS in isoform 2. 1 PublicationVSP_024384Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ309567 mRNA. Translation: CAC83792.1.
    AB046825 mRNA. Translation: BAB13431.1. Different initiation.
    AK027884 mRNA. Translation: BAB55430.1.
    AL834306 mRNA. Translation: CAD38976.1.
    AL133410 Genomic DNA. Translation: CAI10981.1.
    AL133410 Genomic DNA. Translation: CAI10982.1.
    AL133410 Genomic DNA. Translation: CAI10983.1.
    CH471071 Genomic DNA. Translation: EAW58348.1.
    CH471071 Genomic DNA. Translation: EAW58349.1.
    BC011363 mRNA. Translation: AAH11363.1.
    AF258662 mRNA. Translation: AAG44660.1. Frameshift.
    CCDSiCCDS6589.1. [Q9HCG7-1]
    RefSeqiNP_065995.1. NM_020944.2. [Q9HCG7-1]
    UniGeneiHs.443134.

    Genome annotation databases

    EnsembliENST00000378094; ENSP00000367334; ENSG00000070610. [Q9HCG7-2]
    ENST00000378103; ENSP00000367343; ENSG00000070610. [Q9HCG7-1]
    GeneIDi57704.
    KEGGihsa:57704.
    UCSCiuc003zxw.3. human. [Q9HCG7-1]
    uc003zxy.1. human. [Q9HCG7-3]
    uc011lpb.1. human. [Q9HCG7-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ309567 mRNA. Translation: CAC83792.1.
    AB046825 mRNA. Translation: BAB13431.1. Different initiation.
    AK027884 mRNA. Translation: BAB55430.1.
    AL834306 mRNA. Translation: CAD38976.1.
    AL133410 Genomic DNA. Translation: CAI10981.1.
    AL133410 Genomic DNA. Translation: CAI10982.1.
    AL133410 Genomic DNA. Translation: CAI10983.1.
    CH471071 Genomic DNA. Translation: EAW58348.1.
    CH471071 Genomic DNA. Translation: EAW58349.1.
    BC011363 mRNA. Translation: AAH11363.1.
    AF258662 mRNA. Translation: AAG44660.1. Frameshift.
    CCDSiCCDS6589.1. [Q9HCG7-1]
    RefSeqiNP_065995.1. NM_020944.2. [Q9HCG7-1]
    UniGeneiHs.443134.

    3D structure databases

    ProteinModelPortaliQ9HCG7.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi121728. 2 interactions.
    IntActiQ9HCG7. 1 interaction.
    MINTiMINT-6630061.
    STRINGi9606.ENSP00000367343.

    Chemistry

    BindingDBiQ9HCG7.
    ChEMBLiCHEMBL3761.

    Protein family/group databases

    CAZyiGH116. Glycoside Hydrolase Family 116.

    PTM databases

    PhosphoSiteiQ9HCG7.

    Polymorphism and mutation databases

    BioMutaiGBA2.
    DMDMi143018392.

    Proteomic databases

    MaxQBiQ9HCG7.
    PaxDbiQ9HCG7.
    PRIDEiQ9HCG7.

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000378094; ENSP00000367334; ENSG00000070610. [Q9HCG7-2]
    ENST00000378103; ENSP00000367343; ENSG00000070610. [Q9HCG7-1]
    GeneIDi57704.
    KEGGihsa:57704.
    UCSCiuc003zxw.3. human. [Q9HCG7-1]
    uc003zxy.1. human. [Q9HCG7-3]
    uc011lpb.1. human. [Q9HCG7-2]

    Organism-specific databases

    CTDi57704.
    GeneCardsiGC09M035726.
    HGNCiHGNC:18986. GBA2.
    HPAiHPA024026.
    MIMi609471. gene.
    614409. phenotype.
    neXtProtiNX_Q9HCG7.
    Orphaneti352641. Autosomal recessive cerebellar ataxia with late-onset spasticity.
    320391. Autosomal recessive spastic paraplegia type 46.
    PharmGKBiPA38773.
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiCOG4354.
    GeneTreeiENSGT00390000010998.
    HOVERGENiHBG105975.
    InParanoidiQ9HCG7.
    KOiK17108.
    OrthoDBiEOG7ZGX2B.
    PhylomeDBiQ9HCG7.
    TreeFamiTF313888.

    Enzyme and pathway databases

    BRENDAi3.2.1.45. 2681.
    ReactomeiREACT_116105. Glycosphingolipid metabolism.
    SABIO-RKQ9HCG7.

    Miscellaneous databases

    ChiTaRSiGBA2. human.
    GeneWikiiGBA2.
    GenomeRNAii57704.
    NextBioi64578.
    PROiQ9HCG7.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ9HCG7.
    CleanExiHS_GBA2.
    ExpressionAtlasiQ9HCG7. baseline and differential.
    GenevestigatoriQ9HCG7.

    Family and domain databases

    InterProiIPR008928. 6-hairpin_glycosidase-like.
    IPR014551. B_Glucosidase_GBA2-typ.
    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. 1 hit.
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. "Molecular cloning and expression of human bile acid beta -glucosidase."
      Matern H., Boermans H., Lottspeich F., Matern S.
      J. Biol. Chem. 276:37929-37933(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 39-46; 619-636 AND 919-927, ENZYME ACTIVITY, TISSUE SPECIFICITY.
      Tissue: Liver.
    2. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "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 1).
      Tissue: Kidney and Trachea.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Melanoma.
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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).
      Tissue: Lymph.
    8. Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-780 (ISOFORM 3).
      Tissue: Adrenal gland.
    9. "Purification and characterization of a microsomal bile acid beta-glucosidase from human liver."
      Matern H., Heinemann H., Legler G., Matern S.
      J. Biol. Chem. 272:11261-11267(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: BIOPHYSICOCHEMICAL PROPERTIES.
    10. Cited for: FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY.
    11. Cited for: FUNCTION, VARIANT SPG46 TRP-630.
    12. Cited for: VARIANT SPG46 HIS-873.

    Entry informationi

    Entry nameiGBA2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HCG7
    Secondary accession number(s): D3DRP2
    , Q5TCV6, Q96A51, Q96LY1, Q96SJ2, Q9H2L8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 3, 2007
    Last sequence update: April 3, 2007
    Last modified: May 27, 2015
    This is version 102 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, Direct protein sequencing, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.