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Q9HCG7

- GBA2_HUMAN

UniProt

Q9HCG7 - GBA2_HUMAN

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Protein

Non-lysosomal glucosylceramidase

Gene

GBA2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  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
Complete GO annotation...

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. Golgi apparatus Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB
  3. plasma membrane Source: Reactome
  4. 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) [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

BgeeiQ9HCG7.
CleanExiHS_GBA2.
ExpressionAtlasiQ9HCG7. baseline and differential.
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.
GeneTreeiENSGT00390000010998.
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

        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]

Polymorphism databases

DMDMi143018392.

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.
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.
GeneTreei ENSGT00390000010998.
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

Bgeei Q9HCG7.
CleanExi HS_GBA2.
ExpressionAtlasi Q9HCG7. baseline and differential.
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

« 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: October 29, 2014
This is version 97 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