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Q9HCG7

- GBA2_HUMAN

UniProt

Q9HCG7 - GBA2_HUMAN

Protein

Non-lysosomal glucosylceramidase

Gene

GBA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (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. 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

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

    GO - Biological processi

    1. bile acid metabolic process Source: UniProtKB
    2. cell death Source: UniProtKB-KW
    3. central nervous system neuron development Source: UniProtKB
    4. glucosylceramide catabolic process Source: InterPro
    5. glycoside catabolic process Source: UniProtKB
    6. glycosphingolipid metabolic process Source: Reactome
    7. small molecule metabolic process Source: Reactome
    8. sphingolipid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Keywords - Biological processi

    Lipid metabolism, Sphingolipid metabolism

    Enzyme and pathway databases

    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: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:18986. GBA2.

    Subcellular locationi

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

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. Golgi membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB
    4. plasma membrane Source: Reactome
    5. smooth endoplasmic reticulum Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ9HCG7.
    BgeeiQ9HCG7.
    CleanExiHS_GBA2.
    GenevestigatoriQ9HCG7.

    Organism-specific databases

    HPAiHPA024026.

    Interactioni

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCG7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG4354.
    HOVERGENiHBG105975.
    InParanoidiQ9HCG7.
    KOiK17108.
    OrthoDBiEOG7ZGX2B.
    PhylomeDBiQ9HCG7.
    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. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED    50
    SRPPKETDCC NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP 100
    FQANNVSLSN MIKHIGMGLR YLQWWYRKTH VEKKTPFIDM INSVPLRQIY 150
    GCPLGGIGGG TITRGWRGQF CRWQLNPGMY QHRTVIADQF TVCLRREGQT 200
    VYQQVLSLER PSVLRSWNWG LCGYFAFYHA LYPRAWTVYQ LPGQNVTLTC 250
    RQITPILPHD YQDSSLPVGV FVWDVENEGD EALDVSIMFS MRNGLGGGDD 300
    APGGLWNEPF CLERSGETVR GLLLHHPTLP NPYTMAVAAR VTAATTVTHI 350
    TAFDPDSTGQ QVWQDLLQDG QLDSPTGQST PTQKGVGIAG AVCVSSKLRP 400
    RGQCRLEFSL AWDMPRIMFG AKGQVHYRRY TRFFGQDGDA APALSHYALC 450
    RYAEWEERIS AWQSPVLDDR SLPAWYKSAL FNELYFLADG GTVWLEVLED 500
    SLPEELGRNM CHLRPTLRDY GRFGYLEGQE YRMYNTYDVH FYASFALIML 550
    WPKLELSLQY DMALATLRED LTRRRYLMSG VMAPVKRRNV IPHDIGDPDD 600
    EPWLRVNAYL IHDTADWKDL NLKFVLQVYR DYYLTGDQNF LKDMWPVCLA 650
    VMESEMKFDK DHDGLIENGG YADQTYDGWV TTGPSAYCGG LWLAAVAVMV 700
    QMAALCGAQD IQDKFSSILS RGQEAYERLL WNGRYYNYDS SSRPQSRSVM 750
    SDQCAGQWFL KACGLGEGDT EVFPTQHVVR ALQTIFELNV QAFAGGAMGA 800
    VNGMQPHGVP DKSSVQSDEV WVGVVYGLAA TMIQEGLTWE GFQTAEGCYR 850
    TVWERLGLAF QTPEAYCQQR VFRSLAYMRP LSIWAMQLAL QQQQHKKASW 900
    PKVKQGTGLR TGPMFGPKEA MANLSPE 927
    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.
    The sequence BAB13431.1 differs from that shown. Reason: Erroneous initiation.

    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:
    EMBL
    GenBank
    DDBJ
    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]

    Polymorphism databases

    DMDMi143018392.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS6589.1. [Q9HCG7-1 ]
    RefSeqi NP_065995.1. NM_020944.2. [Q9HCG7-1 ]
    UniGenei Hs.443134.

    3D structure databases

    ProteinModelPortali Q9HCG7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121728. 1 interaction.
    IntActi Q9HCG7. 1 interaction.
    MINTi MINT-6630061.
    STRINGi 9606.ENSP00000367343.

    Chemistry

    BindingDBi Q9HCG7.
    ChEMBLi CHEMBL3761.

    Protein family/group databases

    CAZyi GH116. Glycoside Hydrolase Family 116.

    PTM databases

    PhosphoSitei Q9HCG7.

    Polymorphism databases

    DMDMi 143018392.

    Proteomic databases

    MaxQBi Q9HCG7.
    PaxDbi Q9HCG7.
    PRIDEi Q9HCG7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378094 ; ENSP00000367334 ; ENSG00000070610 . [Q9HCG7-2 ]
    ENST00000378103 ; ENSP00000367343 ; ENSG00000070610 . [Q9HCG7-1 ]
    GeneIDi 57704.
    KEGGi hsa:57704.
    UCSCi uc003zxw.3. human. [Q9HCG7-1 ]
    uc003zxy.1. human. [Q9HCG7-3 ]
    uc011lpb.1. human. [Q9HCG7-2 ]

    Organism-specific databases

    CTDi 57704.
    GeneCardsi GC09M035726.
    HGNCi HGNC:18986. GBA2.
    HPAi HPA024026.
    MIMi 609471. gene.
    614409. phenotype.
    neXtProti NX_Q9HCG7.
    Orphaneti 352641. Autosomal recessive cerebellar ataxia with late-onset spasticity.
    320391. Autosomal recessive spastic paraplegia type 46.
    PharmGKBi PA38773.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4354.
    HOVERGENi HBG105975.
    InParanoidi Q9HCG7.
    KOi K17108.
    OrthoDBi EOG7ZGX2B.
    PhylomeDBi Q9HCG7.
    TreeFami TF313888.

    Enzyme and pathway databases

    Reactomei REACT_116105. Glycosphingolipid metabolism.
    SABIO-RK Q9HCG7.

    Miscellaneous databases

    ChiTaRSi GBA2. human.
    GeneWikii GBA2.
    GenomeRNAii 57704.
    NextBioi 64578.
    PROi Q9HCG7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HCG7.
    Bgeei Q9HCG7.
    CleanExi HS_GBA2.
    Genevestigatori Q9HCG7.

    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. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 96 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