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Q69ZF3

- GBA2_MOUSE

UniProt

Q69ZF3 - GBA2_MOUSE

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Protein

Non-lysosomal glucosylceramidase

Gene

Gba2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 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 (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
Complete GO annotation...

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 Source: UniProtKB-KW
  2. Golgi apparatus Source: UniProtKB-KW
  3. integral component of membrane Source: InterPro
Complete GO annotation...

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

MaxQBiQ69ZF3.
PaxDbiQ69ZF3.
PRIDEiQ69ZF3.

PTM databases

PhosphoSiteiQ69ZF3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ69ZF3.
CleanExiMM_GBA2.
ExpressionAtlasiQ69ZF3. baseline and differential.
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

        10         20         30         40         50
MVTCVPASEQ VGCAERDSQV YCEDTGGTEA VRVTDCGSPE DSGPQDEPSY
60 70 80 90 100
CNSEDSGQLM ASYEGKARGY QVPPFGWRIC LAHEFAEKRR PFQANNISLS
110 120 130 140 150
NLVKHLGMGL RYLKWWYRKT HVEKKTPFID MLNSLPLRQI YGCPLGGIGG
160 170 180 190 200
GTITRGWRGQ FCRWQLNPGM YQHQTVIADQ FIVCLRRDGR TVYQQVLSLE
210 220 230 240 250
LPNVLRSWNW GLCGYFAFYH ALYPRAWTVY QLPGQNVTLT CRQVTPILPH
260 270 280 290 300
DYQDSSLPVG VFVWDVENEG DETLDVSITF SMRNGLGGED DAAGSLWNEP
310 320 330 340 350
FRLEQGGTTV QGLLLHHPTP PNPYTMAVAA RCTADTTVTH TTAFDPNGTG
360 370 380 390 400
QQVWQDLLQD GQLDSPAGQS TPTQKGEGIA GAVCVSSKLL PRSRCCLEFS
410 420 430 440 450
LAWDMPKIMF GAKSQVHYRR YTRFFGSDGD VAPALSHYAL CHYADWEDRI
460 470 480 490 500
SAWQNPVLDD RTLPAWYKSA LFNELYFLAD GGTVWLEVPA DSLPEGLGGS
510 520 530 540 550
MRQLRSTLQD YGRFGYLEGQ EYRMYNTYDV HFYASFALVM LWPKLELSLQ
560 570 580 590 600
YDMALATLKE DLTRRRYLMS GVVAPVKRRN VIPHDIGDPD DEPWLRVNAY
610 620 630 640 650
LIHDTADWKD LNLKFVLQIY RDYYLTGDQG FLEDMWPVCL AVMESEMKFD
660 670 680 690 700
KDQDGLIENG GYADQTYDAW VTTGPSAYCG GLWLAAVAVM VQMAVLCGAQ
710 720 730 740 750
DVQERFASIL CRGREAYERL LWNGRYYNYD SSSHPQSRSI MSDQCAGQWF
760 770 780 790 800
LRACGLGEGD TEVFPTLHVV RALQTIFELN VQAFAGGAMG AVNGMHPHGV
810 820 830 840 850
PDRSSVQSDE VWVGVVYGLA ATMIQEGLTW EGFRTAEGCY RTVWERLGLA
860 870 880 890 900
FQTPEAYCQQ QVFRSLAYMR PLSIWAMQLA LQQQQHKKSR RPSVTQGTGL
910
STQPECGPKR SLANLNSE
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. Curated

Experimental Info

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

MaxQBi Q69ZF3.
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

Bgeei Q69ZF3.
CleanExi MM_GBA2.
ExpressionAtlasi Q69ZF3. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 81 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