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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 254.8455
    Cell Significance Index: -39.6400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 149.5801
    Cell Significance Index: -37.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 86.2911
    Cell Significance Index: -40.7400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 84.1831
    Cell Significance Index: -34.2000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.8945
    Cell Significance Index: -34.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 32.8641
    Cell Significance Index: -40.5200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 14.5766
    Cell Significance Index: 355.6600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.1515
    Cell Significance Index: -37.9100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.4242
    Cell Significance Index: -29.3800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 12.7222
    Cell Significance Index: 327.0200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.3344
    Cell Significance Index: -40.7800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 9.1991
    Cell Significance Index: 148.4300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 6.7576
    Cell Significance Index: 85.0900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 5.2118
    Cell Significance Index: 399.9500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.7208
    Cell Significance Index: 126.5000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 4.4874
    Cell Significance Index: 64.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.2375
    Cell Significance Index: 86.4500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.9445
    Cell Significance Index: 49.6000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.1827
    Cell Significance Index: 42.6000
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 1.7849
    Cell Significance Index: 7.7700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.6073
    Cell Significance Index: 10.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4143
    Cell Significance Index: 283.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3201
    Cell Significance Index: 261.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.2832
    Cell Significance Index: 35.8600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.2189
    Cell Significance Index: 26.0600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0647
    Cell Significance Index: 173.1700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.0593
    Cell Significance Index: 71.2300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.9599
    Cell Significance Index: 13.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8608
    Cell Significance Index: 85.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.7884
    Cell Significance Index: 500.7300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.6419
    Cell Significance Index: 988.1600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6162
    Cell Significance Index: 426.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.6026
    Cell Significance Index: 819.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5990
    Cell Significance Index: 33.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.5749
    Cell Significance Index: 14.3700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5714
    Cell Significance Index: 62.1500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5148
    Cell Significance Index: 7.6000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.4616
    Cell Significance Index: 851.2500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4567
    Cell Significance Index: 27.4200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.4194
    Cell Significance Index: 3.4200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3566
    Cell Significance Index: 161.8500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3287
    Cell Significance Index: 179.4900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2951
    Cell Significance Index: 3.6600
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.2672
    Cell Significance Index: 1.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2653
    Cell Significance Index: 17.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2436
    Cell Significance Index: 458.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2069
    Cell Significance Index: 25.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1928
    Cell Significance Index: 69.1600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1771
    Cell Significance Index: 1.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1610
    Cell Significance Index: 30.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1518
    Cell Significance Index: 20.8400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1505
    Cell Significance Index: 27.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1461
    Cell Significance Index: 131.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1418
    Cell Significance Index: 62.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1037
    Cell Significance Index: 13.2900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0833
    Cell Significance Index: 2.4000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0365
    Cell Significance Index: 1.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0335
    Cell Significance Index: 3.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0244
    Cell Significance Index: 4.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0166
    Cell Significance Index: -10.3500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0182
    Cell Significance Index: -13.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0239
    Cell Significance Index: -17.7200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0249
    Cell Significance Index: -0.6600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0395
    Cell Significance Index: -29.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0457
    Cell Significance Index: -2.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0467
    Cell Significance Index: -26.3400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0568
    Cell Significance Index: -1.6200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0706
    Cell Significance Index: -0.8800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0786
    Cell Significance Index: -8.0300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0827
    Cell Significance Index: -5.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1007
    Cell Significance Index: -11.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1034
    Cell Significance Index: -5.4300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1047
    Cell Significance Index: -22.0600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1064
    Cell Significance Index: -3.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1067
    Cell Significance Index: -15.5100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1113
    Cell Significance Index: -5.7800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1186
    Cell Significance Index: -1.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1192
    Cell Significance Index: -34.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1313
    Cell Significance Index: -16.9600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1328
    Cell Significance Index: -2.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1891
    Cell Significance Index: -8.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2008
    Cell Significance Index: -5.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2074
    Cell Significance Index: -24.1700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2217
    Cell Significance Index: -25.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2415
    Cell Significance Index: -27.6700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3010
    Cell Significance Index: -18.5000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3045
    Cell Significance Index: -3.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3212
    Cell Significance Index: -23.9400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.3374
    Cell Significance Index: -5.2200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3387
    Cell Significance Index: -21.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3557
    Cell Significance Index: -25.1600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3668
    Cell Significance Index: -4.6300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3813
    Cell Significance Index: -19.8600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4068
    Cell Significance Index: -24.9400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4112
    Cell Significance Index: -5.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4125
    Cell Significance Index: -32.6700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4130
    Cell Significance Index: -18.2700
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.4240
    Cell Significance Index: -6.4500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4753
    Cell Significance Index: -18.0000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5176
    Cell Significance Index: -14.0900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzyme Function:** GBE1 is a 1,4-alpha-glucan branching enzyme that catalyzes the formation of alpha-1,6-glycosidic bonds in glycogen, thereby branching the polysaccharide chain. 2. **Subcellular Localization:** GBE1 is predominantly found in the cytosol of various cell types, including skeletal muscle fibers, subcutaneous fat cells, and cardiac myocytes. 3. **Expression Patterns:** GBE1 is expressed in multiple tissues, including the liver, muscles, and adipose tissue, suggesting its essential role in glycogen metabolism and energy homeostasis. **Pathways and Functions:** 1. **Glycogen Synthesis:** GBE1 is involved in the synthesis of glycogen by branching the glycogen chain, allowing for the efficient storage of glucose as energy reserves. 2. **Glycogen Degradation:** GBE1 also plays a crucial role in glycogen degradation, as it is required for the breakdown of glycogen into glucose-1-phosphate, a key intermediate in glucose metabolism. 3. **Energy Metabolism:** GBE1 is essential for maintaining energy homeostasis, as it regulates the availability of glucose-1-phosphate, a critical energy source for various cellular processes. 4. **Cell Signaling:** GBE1 has been shown to interact with other proteins involved in cell signaling pathways, including the PI3K/AKT and MAPK/ERK pathways, suggesting its involvement in regulating cellular processes beyond glycogen metabolism. **Clinical Significance:** 1. **Glycogen Storage Disease Type IV (GSD IV):** Mutations in the GBE1 gene have been identified as the primary cause of GSD IV, a severe disorder characterized by hypoglycemia, muscle weakness, and cardiomegaly. 2. **Energy Metabolism Disorders:** Abnormalities in GBE1 have been linked to other energy metabolism disorders, including hypoglycemia and lactic acidosis. 3. **Cancer Metastasis:** GBE1 has been implicated in the regulation of cancer cell migration and metastasis, suggesting its potential role in cancer biology. 4. **Neurological Disorders:** GBE1 has been shown to interact with other proteins involved in neuronal signaling pathways, suggesting its potential role in neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, GBE1 is a critical enzyme involved in glycogen metabolism, and its dysregulation has been implicated in various metabolic disorders, including glycogen storage disease type IV and energy metabolism disorders. Further research is needed to fully elucidate the role of GBE1 in human health and disease.

Genular Protein ID: 1413365347

Symbol: GLGB_HUMAN

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

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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. 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.