Gba1 | ENSMUSG00000028048 | NCBI 14466

Details for: Gba1

Gene ID: 14466

Symbol: Gba1

Ensembl ID: ENSMUSG00000028048

Description: glucosylceramidase beta 1

Associated with

Glycosphingolipid catabolism
(R-MMU-9840310)
Glycosphingolipid metabolism
(R-MMU-1660662)
Metabolism
(R-MMU-1430728)
Metabolism of lipids
(R-MMU-556833)
Sphingolipid metabolism
(R-MMU-428157)
Antigen processing and presentation
(GO:0019882)
Autophagosome organization
(GO:1905037)
Autophagy
(GO:0006914)
Beta-glucosidase activity
(GO:0008422)
Beta-glucoside catabolic process
(GO:1901805)
Brain morphogenesis
(GO:0048854)
Cell maturation
(GO:0048469)
Cellular response to starvation
(GO:0009267)
Cellular response to tumor necrosis factor
(GO:0071356)
Central nervous system development
(GO:0007417)
Ceramide biosynthetic process
(GO:0046513)
Cerebellar purkinje cell layer formation
(GO:0021694)
Cholesterol metabolic process
(GO:0008203)
Determination of adult lifespan
(GO:0008340)
Endoplasmic reticulum
(GO:0005783)
Establishment of skin barrier
(GO:0061436)
Extracellular space
(GO:0005615)
Galactosylceramidase activity
(GO:0004336)
Glucosylceramidase activity
(GO:0004348)
Glucosylceramide catabolic process
(GO:0006680)
Glucosylceramide metabolic process
(GO:0006678)
Glucosyltransferase activity
(GO:0046527)
Glycosyltransferase activity
(GO:0016757)
Golgi apparatus
(GO:0005794)
Hematopoietic stem cell proliferation
(GO:0071425)
Homeostasis of number of cells
(GO:0048872)
Hydrolase activity
(GO:0016787)
Hydrolase activity, acting on glycosyl bonds
(GO:0016798)
Lipid glycosylation
(GO:0030259)
Lipid metabolic process
(GO:0006629)
Lipid storage
(GO:0019915)
Lymphocyte migration
(GO:0072676)
Lysosomal membrane
(GO:0005765)
Lysosome
(GO:0005764)
Lysosome organization
(GO:0007040)
Membrane
(GO:0016020)
Metabolic process
(GO:0008152)
Microglia differentiation
(GO:0014004)
Microglial cell proliferation
(GO:0061518)
Mitochondrion organization
(GO:0007005)
Mitophagy
(GO:0000423)
Motor behavior
(GO:0061744)
Negative regulation of interleukin-6 production
(GO:0032715)
Negative regulation of map kinase activity
(GO:0043407)
Negative regulation of neuron apoptotic process
(GO:0043524)
Negative regulation of protein-containing complex assembly
(GO:0031333)
Negative regulation of protein metabolic process
(GO:0051248)
Nervous system process
(GO:0050877)
Neuromuscular process
(GO:0050905)
Neuron apoptotic process
(GO:0051402)
Positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
(GO:1904925)
Positive regulation of neuronal action potential
(GO:1904457)
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process
(GO:0032436)
Positive regulation of protein-containing complex disassembly
(GO:0043243)
Positive regulation of protein dephosphorylation
(GO:0035307)
Positive regulation of protein lipidation
(GO:1903061)
Positive regulation of proteolysis involved in protein catabolic process
(GO:1903052)
Proteasome-mediated ubiquitin-dependent protein catabolic process
(GO:0043161)
Protein binding
(GO:0005515)
Pyramidal neuron differentiation
(GO:0021859)
Regulation of membrane potential
(GO:0042391)
Regulation of protein metabolic process
(GO:0051246)
Regulation of tor signaling
(GO:0032006)
Respiratory electron transport chain
(GO:0022904)
Response to dexamethasone
(GO:0071548)
Response to estrogen
(GO:0043627)
Response to ph
(GO:0009268)
Response to testosterone
(GO:0033574)
Response to thyroid hormone
(GO:0097066)
Scavenger receptor binding
(GO:0005124)
Signaling receptor binding
(GO:0005102)
Skin epidermis development
(GO:0098773)
Sphingolipid metabolic process
(GO:0006665)
Sphingosine biosynthetic process
(GO:0046512)
Steroid metabolic process
(GO:0008202)
Steryl-beta-glucosidase activity
(GO:0050295)
T-helper 2 cell cytokine production
(GO:0035745)
T cell differentiation in thymus
(GO:0033077)
Termination of signal transduction
(GO:0023021)
Trans-golgi network
(GO:0005802)
Transferase activity
(GO:0016740)

Other Information

Proteins

Acid beta-glucosidase

Genular Protein ID: 3637858250

Symbol: GBA1_MOUSE

Name: Acid beta-glucosidase

UniProtKB Accession Codes:

P17439 Q78NR7

Database IDs:

Citations:

PubMed ID: 2740343

Title: Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences.

PubMed ID: 2740343

DOI: 10.1073/pnas.86.13.5049

PubMed ID: 16141072

Title: The transcriptional landscape of the mammalian genome.

PubMed ID: 16141072

DOI: 10.1126/science.1112014

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1317175

Title: Molecular and functional characterization of the murine glucocerebrosidase gene.

PubMed ID: 1317175

DOI: 10.1016/s0006-291x(05)80049-x

PubMed ID: 1594045

Title: Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.

PubMed ID: 1594045

DOI: 10.1038/357407a0

PubMed ID: 16170054

Title: High throughput quantitative glycomics and glycoform-focused proteomics of murine dermis and epidermis.

PubMed ID: 16170054

DOI: 10.1074/mcp.m500203-mcp200

PubMed ID: 19349973

Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.

PubMed ID: 19349973

DOI: 10.1038/nbt.1532

PubMed ID: 21183079

Title: A tissue-specific atlas of mouse protein phosphorylation and expression.

PubMed ID: 21183079

DOI: 10.1016/j.cell.2010.12.001

PubMed ID: 22665763

Title: Gaucher disease gene GBA functions in immune regulation.

PubMed ID: 22665763

DOI: 10.1073/pnas.1200941109

PubMed ID: 24211208

Title: Cholesterol glucosylation is catalyzed by transglucosylation reaction of beta-glucosidase 1.

PubMed ID: 24211208

DOI: 10.1016/j.bbrc.2013.10.145

PubMed ID: 27789271

Title: Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.

PubMed ID: 27789271

DOI: 10.1016/j.ebiom.2016.10.010

PubMed ID: 27378698

Title: Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.

PubMed ID: 27378698

DOI: 10.1093/hmg/ddw185

Sequence Information:

Length: 515
Mass: 57622
Checksum: 7CCD9176085FE2CB
Sequence:

MAARLIGFFL FQAVSWAYGA QPCIPKSFGY SSVVCVCNAS YCDSLDPVTL PALGTFSRYE 
STRRGRRMEL SVGAIQANRT GTGLLLTLQP EKKFQKVKGF GGAMTDATAL NILALSPPTQ 
KLLLRSYFST NGIEYNIIRV PMASCDFSIR VYTYADTPND FQLSNFSLPE EDTKLKIPLI 
HQALKMSSRP ISLFASPWTS PTWLKTNGRV NGKGSLKGQP GDIFHQTWAN YFVKFLDAYA 
KYGLRFWAVT AENEPTAGLF TGYPFQCLGF TPEHQRDFIS RDLGPALANS SHDVKLLMLD 
DQRLLLPRWA EVVLSDPEAA KYVHGIAVHW YMDFLAPAKA TLGETHRLFP NTMLFASEAC 
VGSKFWEQSV RLGSWDRGMQ YSHSIITNLL YHVTGWTDWN LALNPEGGPN WVRNFVDSPI 
IVDIPKDAFY KQPMFYHLGH FSKFIPEGSQ RVALVASEST DLETVALLRP DGSAVVVVLN 
RSSEDVPLTI SDPDLGFLET VSPGYSIHTY LWRRQ

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: Gba1

Associated with

Other Information

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. PubMed ID: 2740343

The transcriptional landscape of the mammalian genome. PubMed ID: 16141072

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular and functional characterization of the murine glucocerebrosidase gene. PubMed ID: 1317175

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. PubMed ID: 1594045

High throughput quantitative glycomics and glycoform-focused proteomics of murine dermis and epidermis. PubMed ID: 16170054

Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. PubMed ID: 19349973

A tissue-specific atlas of mouse protein phosphorylation and expression. PubMed ID: 21183079

Gaucher disease gene GBA functions in immune regulation. PubMed ID: 22665763

Cholesterol glucosylation is catalyzed by transglucosylation reaction of beta-glucosidase 1. PubMed ID: 24211208

Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease. PubMed ID: 27789271

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. PubMed ID: 27378698