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Protein

Non-lysosomal glucosylceramidase

Gene

Gba2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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 similarity1 Publication

Catalytic activityi

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

Activity regulationi

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

ReactomeiR-MMU-1660662 Glycosphingolipid metabolism

Protein family/group databases

CAZyiGH116 Glycoside Hydrolase Family 116

Chemistry databases

SwissLipidsiSLP:000001383

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:2654325 Gba2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Chemistry databases

ChEMBLiCHEMBL5614

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002837591 – 918Non-lysosomal glucosylceramidaseAdd BLAST918

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei893PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ69ZF3
MaxQBiQ69ZF3
PaxDbiQ69ZF3
PeptideAtlasiQ69ZF3
PRIDEiQ69ZF3

PTM databases

iPTMnetiQ69ZF3
PhosphoSitePlusiQ69ZF3

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSMUSG00000028467 Expressed in 268 organ(s), highest expression level in cerebellum
CleanExiMM_GBA2
ExpressionAtlasiQ69ZF3 baseline and differential
GenevisibleiQ69ZF3 MM

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000030189

Chemistry databases

BindingDBiQ69ZF3

Structurei

3D structure databases

ProteinModelPortaliQ69ZF3
SMRiQ69ZF3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2119 Eukaryota
COG4354 LUCA
GeneTreeiENSGT00390000010998
HOGENOMiHOG000234168
HOVERGENiHBG105975
InParanoidiQ69ZF3
KOiK17108
OMAiHDYQDSS
OrthoDBiEOG091G01JK
PhylomeDBiQ69ZF3
TreeFamiTF313888

Family and domain databases

Gene3Di1.50.10.10, 1 hit
InterProiView protein in InterPro
IPR008928 6-hairpin_glycosidase_sf
IPR012341 6hp_glycosidase-like_sf
IPR014551 B_Glucosidase_GBA2-typ
IPR006775 GH116_catalytic
IPR024462 GH116_N
PfamiView protein in Pfam
PF04685 DUF608, 1 hit
PF12215 Glyco_hydr_116N, 1 hit
PIRSFiPIRSF028944 Beta_gluc_GBA2, 1 hit
SUPFAMiSSF48208 SSF48208, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AWI3B1AWI3_MOUSE
Non-lysosomal glucosylceramidase
Gba2
230Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti385V → I in BAC40785 (PubMed:16141072).Curated1

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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiGBA2_MOUSE
AccessioniPrimary (citable) accession number: Q69ZF3
Secondary accession number(s): Q6PGM3, Q8BTN9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: September 12, 2018
This is version 103 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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