Details for: AGL

Gene ID: 178

Symbol: AGL

Ensembl ID: ENSG00000162688

Description: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

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: cell of skeletal muscle (CL0000188)
    Fold Change: 4.27
    Marker Score: 3250
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.86
    Marker Score: 2056
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.77
    Marker Score: 3885
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.7
    Marker Score: 6662
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.63
    Marker Score: 36403
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.62
    Marker Score: 59844
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.56
    Marker Score: 33194
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.53
    Marker Score: 6354
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.52
    Marker Score: 57661
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167777
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.46
    Marker Score: 5938
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.45
    Marker Score: 3891
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.42
    Marker Score: 1167
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4
    Marker Score: 5414
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.39
    Marker Score: 13037
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.36
    Marker Score: 10087
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.35
    Marker Score: 8702
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.35
    Marker Score: 82827
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.34
    Marker Score: 11505
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.32
    Marker Score: 5710
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.31
    Marker Score: 12469
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.3
    Marker Score: 3251
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.3
    Marker Score: 6967
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.28
    Marker Score: 1978
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.25
    Marker Score: 366
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.25
    Marker Score: 9597
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.23
    Marker Score: 24547
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.21
    Marker Score: 1523
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.21
    Marker Score: 18146
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.2
    Marker Score: 5031
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.2
    Marker Score: 12367
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.2
    Marker Score: 1268
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.15
    Marker Score: 2905
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.15
    Marker Score: 17927
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.13
    Marker Score: 1217
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.13
    Marker Score: 754
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.12
    Marker Score: 5182
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.1
    Marker Score: 955
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1
    Marker Score: 1158
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.07
    Marker Score: 623
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.04
    Marker Score: 1535
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.04
    Marker Score: 3561
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.02
    Marker Score: 3627
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.02
    Marker Score: 1313
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.01
    Marker Score: 2297
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71702
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47927
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.98
    Marker Score: 572
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30391
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.96
    Marker Score: 1948
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.95
    Marker Score: 1581
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.95
    Marker Score: 531
  • 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: 0.93
    Marker Score: 479
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.92
    Marker Score: 387
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 434
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.92
    Marker Score: 621
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.91
    Marker Score: 452
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2705
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.9
    Marker Score: 15947
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.89
    Marker Score: 7737
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.89
    Marker Score: 336
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.88
    Marker Score: 413
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.88
    Marker Score: 3407
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.88
    Marker Score: 276.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293.5
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.87
    Marker Score: 287
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4848
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.85
    Marker Score: 1173
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.83
    Marker Score: 1178
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.83
    Marker Score: 227
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.82
    Marker Score: 400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.82
    Marker Score: 209
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.82
    Marker Score: 629
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.81
    Marker Score: 1318
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.81
    Marker Score: 554
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.8
    Marker Score: 366
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.79
    Marker Score: 270
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.79
    Marker Score: 416
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.79
    Marker Score: 850
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 315
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.78
    Marker Score: 2132
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.78
    Marker Score: 777.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 593
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.77
    Marker Score: 181
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.76
    Marker Score: 455
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.76
    Marker Score: 283
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.75
    Marker Score: 7517
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.75
    Marker Score: 756
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3119
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.73
    Marker Score: 889
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.73
    Marker Score: 233
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.73
    Marker Score: 982
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.72
    Marker Score: 625
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.72
    Marker Score: 641
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.72
    Marker Score: 207
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.71
    Marker Score: 496
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.71
    Marker Score: 880

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Other Information

**Key characteristics:** - The AGL gene is located on chromosome 15q23.1. - It is a large gene encoding a protein of 1,571 amino acids. - The protein is a glycoprotein that is expressed in a variety of cell types, including skeletal muscle, corneal epithelial cell, ciliary muscle cell, placental villous trophoblast, regular ventricular cardiac myocyte, pvalb GABAergic cortical interneuron, astrocyte of the cerebral cortex, chandelier pvalb GABAergic cortical interneuron, vip GABAergic cortical interneuron, and mural cell. **Pathways and functions:** - The AGL gene is involved in the glycogen biosynthetic process, glycogen breakdown (glycogenolysis), and glycogen catabolic process. - It is also involved in the immune system and innate immune response. - The protein encoded by the AGL gene is a glycoprotein that is involved in the regulation of inflammation. **Clinical significance:** - Mutations in the AGL gene have been linked to a number of human diseases, including amyloidosis, diabetes, and cancer. - These diseases are characterized by the accumulation of amyloid plaques and deposits in the brain and other organs. - The AGL gene is a potential target for therapy in these diseases.

Genular Protein ID: 4040726575

Symbol: GDE_HUMAN

Name: Glycogen debranching enzyme

UniProtKB Accession Codes:

P35573 A6NCX7 A6NEK2 D3DT51 P78354 P78544 Q59H92 Q6AZ90 Q9UF08

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 2 CCDS 2 CDD 1 CTD 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 4 EMBL 14 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1374391

Title: Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

PubMed ID: 1374391

DOI: 10.1016/s0021-9258(19)50422-7

PubMed ID: 8954797

Title: Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.

PubMed ID: 8954797

DOI: 10.1006/geno.1996.0611

PubMed ID: 9332391

Title: Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.

PubMed ID: 9332391

DOI: 10.1016/s0378-1119(97)00291-6

PubMed ID: 10982190

Title: Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.

PubMed ID: 10982190

DOI: 10.1007/s004390051017

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 17908927

Title: A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.

PubMed ID: 17908927

DOI: 10.1101/gad.1553207

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 10571954

Title: Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.

PubMed ID: 10571954

DOI: 10.1002/(sici)1098-1004(199912)14:6<542::aid-humu15>3.0.co;2-0

Sequence Information:

  • Length: 1532
  • Mass: 174764
  • Checksum: 9BF1BCC43B7904D3
  • Sequence:
    • MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE 
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH 
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE 
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN 
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE 
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH 
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT 
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL 
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML 
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP 
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY 
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV 
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR 
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL 
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT 
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL 
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD 
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC 
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL 
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL 
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM 
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI 
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN 
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA 
KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL 
PELTNENAQY CPFSCETQAW SIATILETLY DL

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.