AGL

Protein identityUniProt · HPA

UniProt accession

P35573

Gene

AGL

Ensembl

ENSG00000162688

Chromosome

1

Canonical length

1532 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1532 residues, UniProt reviewed canonical sequence.

>P35573|AGL
     1  MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
    61  KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
   121  VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
   181  LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
   241  SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
   301  FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
   361  DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
   421  RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
   481  RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
   541  DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
   601  VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
   661  DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
   721  YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
   781  TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
   841  SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
   901  LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
   961  RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
  1021  TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
  1081  CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
  1141  GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
  1201  FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
  1261  DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
  1321  KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
  1381  FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
  1441  KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
  1501  PELTNENAQY CPFSCETQAW SIATILETLY DL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AGL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.2

Highest tissue expression

241 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AGL.

Disease | AllUniProt

Conditions AGL is implicated in, by any mechanism.

• Glycogen storage disease 3 (GSD3) MIM:232400

Disease | GeneticClinVar

628 pathogenic / likely-pathogenic of 3,056 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycogen storage disease type III
• Glycogen storage disease IIIa
• Glycogen storage disease
• AGL-related disorder
• Glycogen storage disease IIIb

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.8

gnomAD pLI

0

gnomAD missense Z

-0.46

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycogen biosynthetic process
• glycogen catabolic process
• response to glucocorticoid
• response to nutrient

Molecular functions

• polysaccharide binding
• polyubiquitin modification-dependent protein binding
• 4-alpha-glucanotransferase activity
• amylo-alpha-1,6-glucosidase activity

Cellular components

• cytoplasm
• cytosol
• extracellular region
• ficolin-1-rich granule lumen
• inclusion body
• nucleus
• sarcoplasmic reticulum
• secretory granule lumen
• isoamylase complex

Protein domainsUniProt · Pfam · InterPro

• Six-hairpin glycosidase superfamily
• Glycoside hydrolase superfamily
• Glycogen debranching enzyme, metazoa
• Glycogen debranching enzyme
• Eukaryotic glycogen debranching enzyme, N-terminal domain
• Glycogen debranching enzyme, central domain
• Glycogen debranching enzyme, C-terminal
• Glycogen debranching enzyme, glucanotransferase domain
• Amylo-alpha-1,6-glucosidase
• N-terminal domain from the human glycogen debranching enzyme
• Glycogen debranching enzyme, glucanotransferase domain
• Central domain of human glycogen debranching enzyme

KeywordsUniProt

• Cytoplasm
• Glycogen biosynthesis
• Glycogen storage disease
• Glycosidase
• Glycosyltransferase
• Hydrolase
• Multifunctional enzyme
• Phosphoprotein
• Transferase
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of AGL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NHLRC1