Details for: GBE1

Gene ID: 2632

Symbol: GBE1

Ensembl ID: ENSG00000114480

Description: 1,4-alpha-glucan branching enzyme 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 6.15
    Marker Score: 15412
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 4.22
    Marker Score: 1543
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.75
    Marker Score: 83903
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.16
    Marker Score: 11218
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.95
    Marker Score: 3574
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.86
    Marker Score: 50844.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.73
    Marker Score: 1525
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.66
    Marker Score: 3582
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.49
    Marker Score: 1454
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.48
    Marker Score: 5451
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.24
    Marker Score: 655
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.22
    Marker Score: 1295
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.12
    Marker Score: 1630
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.94
    Marker Score: 2415
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.93
    Marker Score: 2226
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.91
    Marker Score: 1061
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.87
    Marker Score: 19335
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.82
    Marker Score: 763
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.79
    Marker Score: 1973
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.75
    Marker Score: 1154
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.71
    Marker Score: 924
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.7
    Marker Score: 9163.5
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.7
    Marker Score: 1812
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.65
    Marker Score: 10601
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.58
    Marker Score: 941
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.57
    Marker Score: 6796
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.57
    Marker Score: 3027
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.54
    Marker Score: 6465
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167838
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.44
    Marker Score: 1630
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.43
    Marker Score: 813
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.42
    Marker Score: 373
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.38
    Marker Score: 1490.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.33
    Marker Score: 364
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.33
    Marker Score: 645
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.33
    Marker Score: 20747
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.3
    Marker Score: 479.5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.29
    Marker Score: 20766
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.29
    Marker Score: 3034
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.26
    Marker Score: 328
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.23
    Marker Score: 465
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.23
    Marker Score: 388
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.22
    Marker Score: 1159
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.21
    Marker Score: 1285
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.21
    Marker Score: 3238
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.2
    Marker Score: 5196
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.19
    Marker Score: 590
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.18
    Marker Score: 374
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.18
    Marker Score: 301
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.17
    Marker Score: 371
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.16
    Marker Score: 4115.5
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.15
    Marker Score: 574
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.15
    Marker Score: 1671
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.14
    Marker Score: 684
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.12
    Marker Score: 4572
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.12
    Marker Score: 3201
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.12
    Marker Score: 1199
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.12
    Marker Score: 2273
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.11
    Marker Score: 1968
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.1
    Marker Score: 399
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.1
    Marker Score: 41695
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.09
    Marker Score: 1546
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.08
    Marker Score: 405
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.07
    Marker Score: 953
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.07
    Marker Score: 921
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.06
    Marker Score: 384
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.06
    Marker Score: 555
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.06
    Marker Score: 361
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.06
    Marker Score: 340
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.05
    Marker Score: 20956
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251686
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.04
    Marker Score: 682
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.02
    Marker Score: 1072
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 1
    Marker Score: 992
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71708
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47933
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.98
    Marker Score: 5898
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30394
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.97
    Marker Score: 3184
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.97
    Marker Score: 306
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.96
    Marker Score: 1233
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.95
    Marker Score: 966
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.95
    Marker Score: 34951
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.95
    Marker Score: 296
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2399
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.94
    Marker Score: 465
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 442
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.91
    Marker Score: 9138
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2707
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.89
    Marker Score: 8386
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.89
    Marker Score: 607
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.89
    Marker Score: 467
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.88
    Marker Score: 266
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.86
    Marker Score: 709
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.86
    Marker Score: 1329
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.86
    Marker Score: 52922
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4853

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Other Information

**Key characteristics:** * The GBE1 gene is located on chromosome 17q21.1. * It is a large gene with a size of approximately 1.2 million base pairs. * It contains 19 exons and 18 introns. * The protein encoded by GBE1 contains a conserved catalytic domain responsible for the branching of glucans. **Pathways and functions:** * GBE1 is involved in the biosynthesis and degradation of glycoproteins, which are proteins that are assembled from glucans. * It is a key enzyme in the metabolism of carbohydrates, participating in the synthesis and degradation of glycogen. * It is also involved in the regulation of blood glucose levels by controlling the release of glucose into the bloodstream. **Clinical significance:** * Mutations in the GBE1 gene have been linked to several diseases of carbohydrate metabolism, including glycogen storage disease type IV (gbe1). * These diseases are characterized by the accumulation of abnormal glycogen deposits in various tissues, leading to symptoms such as muscle weakness, joint pain, and cognitive impairment. * GBE1 mutations can also be caused by genetic disorders that affect the metabolism of carbohydrates, such as glucose-6-phosphatase deficiency. **Additional points:** * GBE1 is a highly conserved enzyme with homologs in other species. * It is a target for therapeutic interventions in diseases of carbohydrate metabolism. * Research on GBE1 is ongoing, with the aim of developing new diagnostic and therapeutic strategies for diseases associated with GBE1 mutations.

Genular Protein ID: 1413365347

Symbol: GLGB_HUMAN

Name: 1,4-alpha-glucan-branching enzyme

UniProtKB Accession Codes:

Q04446 B3KWV3 Q96EN0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 2 CCDS 1 CDD 2 CTD 1 CarbonylDB 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 3 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8463281

Title: Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.

PubMed ID: 8463281

DOI: 10.1016/s0021-9258(18)53204-x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 15592455

Title: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.

PubMed ID: 15592455

DOI: 10.1038/nbt1046

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26199317

Title: Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

PubMed ID: 26199317

DOI: 10.1093/hmg/ddv280

PubMed ID: 8613547

Title: Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

PubMed ID: 8613547

DOI: 10.1172/jci118517

PubMed ID: 10545044

Title: A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.

PubMed ID: 10545044

DOI: 10.1016/s0960-8966(99)00040-1

PubMed ID: 10762170

Title: Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

PubMed ID: 10762170

DOI: 10.1002/1531-8249(200004)47:4<536::aid-ana22>3.3.co;2-b

PubMed ID: 15452297

Title: Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

PubMed ID: 15452297

DOI: 10.1212/01.wnl.0000138429.11433.0d

Sequence Information:

  • Length: 702
  • Mass: 80474
  • Checksum: DEF534C821A72323
  • Sequence:
    • MAAPMTPAAR PEDYEAALNA ALADVPELAR LLEIDPYLKP YAVDFQRRYK QFSQILKNIG 
ENEGGIDKFS RGYESFGVHR CADGGLYCKE WAPGAEGVFL TGDFNGWNPF SYPYKKLDYG 
KWELYIPPKQ NKSVLVPHGS KLKVVITSKS GEILYRISPW AKYVVREGDN VNYDWIHWDP 
EHSYEFKHSR PKKPRSLRIY ESHVGISSHE GKVASYKHFT CNVLPRIKGL GYNCIQLMAI 
MEHAYYASFG YQITSFFAAS SRYGTPEELQ ELVDTAHSMG IIVLLDVVHS HASKNSADGL 
NMFDGTDSCY FHSGPRGTHD LWDSRLFAYS SWEILRFLLS NIRWWLEEYR FDGFRFDGVT 
SMLYHHHGVG QGFSGDYSEY FGLQVDEDAL TYLMLANHLV HTLCPDSITI AEDVSGMPAL 
CSPISQGGGG FDYRLAMAIP DKWIQLLKEF KDEDWNMGDI VYTLTNRRYL EKCIAYAESH 
DQALVGDKSL AFWLMDAEMY TNMSVLTPFT PVIDRGIQLH KMIRLITHGL GGEGYLNFMG 
NEFGHPEWLD FPRKGNNESY HYARRQFHLT DDDLLRYKFL NNFDRDMNRL EERYGWLAAP 
QAYVSEKHEG NKIIAFERAG LLFIFNFHPS KSYTDYRVGT ALPGKFKIVL DSDAAEYGGH 
QRLDHSTDFF SEAFEHNGRP YSLLVYIPSR VALILQNVDL PN

Genular Protein ID: 2407761478

Symbol: Q59ET0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59ET0

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 EC 1 EMBL 2 GO 5 Gene3D 3 Genevisible 1 GenomeRNAi 1 InterPro 8 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1 SMART 2 SUPFAM 3

Sequence Information:

  • Length: 754
  • Mass: 86114
  • Checksum: 3CAF07C173D34D8D
  • Sequence:
    • RAPDRRGSPR LASTRLGALR LRPSRRVPAR APAPAQAPLD PLGPRLLGLR RNMAAPMTPA 
ARPEDYEAAL NAALADVPEL ARLLEIDPYL KPYAVDFQRR YKQFSQILKN IGENEGGIDK 
FSRGYESFGV HRCADGGLYC KEWAPGAEGV FLTGDFNGWN PFSYPYKKLD YGKWELYIPP 
KQNKSVLVPH GSKLKVVITS KSGEILYRIS PWAKYVVREG DNVNYDWIHW DPEHSYEFKH 
SRPKKPRSLR IYESHVGISS HEGKVASYKH FTCNVLPRIK GLGYNCIQLM AIMEHAYYAS 
FGYQITSFFA ASSRYGTPEE LQELVDTAHS MGIIVLLDVV HSHASKNSAD GLNMFDGTDS 
CYFHSGPRGT HDLWDSRLFA YSSWEVLRFL LSNIRWWLEE YRFDGFRFDG VTSMLYHHHG 
VGQGFSGDYS EYFGLQVDED ALTYLMLANH LVHTLCPDSI TIAEDVSGMP ALCSPISQGG 
GGFDYRLAMA IPDKWIQLLK EFKDEDWNMG DIVYTLTNRR YLEKCIAYAE SHDQALVGDK 
SLAFWLMDAE MYTNMSVLTP FTPVIDRGIQ LHKMIRLITH GLGGEGYLNF MGNEFGHPEW 
LDFPRKGNNE SYHYARRQFH LTDDDLLRYK FLNNFDRDMN RLEERYGWLA APQAYVSEKH 
EGNKIIAFER AGLLFIFNFH PSKSYTDYRV GTALPGKFKI VLDSDAAEYG GHQRLDHSTD 
FFSEAFEHNG RPYSLLVYIP SRVALILQNV DLPN

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. For the full schema, download it here.