AGBL1 (AGBL carboxypeptidase 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 123624
• Gene name: AGBL carboxypeptidase 1
• Gene symbol: AGBL1
• Synonyms (NCBI Gene): CCP4, FECD8
• Chromosome: 15
• Chromosome location: 15q25.3
• Summary: Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs181958589	G>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs185919705	C>T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2168531	hsa-miR-665	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0035609	Process	C-terminal protein deglutamylation	ISS
GO:0035610	Process	Protein side chain deglutamylation	ISS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 615496
• HGNC: 26504
• e!Ensembl: ENSG00000273540

Protein

• UniProt ID: Q96MI9
• Protein name: Cytosolic carboxypeptidase 4 (EC 3.4.17.-) (EC 3.4.17.24) (ATP/GTP-binding protein-like 1) (Protein deglutamylase CCP4)
• Protein function: Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00246	Peptidase_M14	756 → 1010	Zinc carboxypeptidase	Domain
  PF18027	Pepdidase_M14_N	596 → 731	Cytosolic carboxypeptidase N-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in corneal endothelium. {ECO:0000269|PubMed:24094747}.
• Sequence:

  MAEQEASGLQVLLHTLQSSSDKESILTILKVLGDLLSVGTDRRIHYMISKGGSEALLQTL
  VDTARTAPPDYDILLPLFRLLAKVGLRDKKIGRKALELEALDVTLILARKNLSHGQNLLH
  CLWALRVFASSVSMGAMLGINGAMELLFKVITPYTRKRTQAIRAATEVLAALLKSKSNGR
  RAVNRGYVTSLLGLHQDWHSHDTANAYVQIRRGLLLCLRHIAALRSGREAFLAAQGMEIL
  FSTTQNCLDDKSMEPVISVVLQILRQCYPTSPLPLVTASSAYAFPVPGCITTEPPHDLPE
  EDFEDDGDDEVDKDSDTEDGKVEDDDLETDVNKLSSKPGLDRPEEELMQYEVMCLELSYS
  FEELQSKLGDDLNSEKTQYANHHHIPAAASSKQHCYSKDQSSCGQEREYAVQTSLLCRVK
  TGRSTVHLGSKKNPGVNLYQNVQSNSLRRDSSESEIPDIQASPKADAWDVDAIFCPRMSA
  SFSNSTRTREVVKVIDKLLQTHLKRVPFHDPYLYMAKARRTSSVVDFKMMAFPDVWGHCP
  PPTTQPMLERKCGVQRIRIFEDIRRLIQPSDVINKVVFSLDEPWPLQDNASNCLRFFSKF
  ESGNLRKAIQVREFEYDLLVNADVNSTQHQQWFYFKVSGMQAAIPYHFNIINCEKPNSQF
  NYGMQPTLYSVKEALLGKPTWIRTGHEICYYKNHYRQSTAVAGGASGKCYYTLTFAVTFP
  HSEDVCYLAYHYPYTYTALMTHLDILEKSVNLKEVYFRQDVLCQTLGGNPCPLVTITAMP
  ESNSDEHLEQFRHRPYQVITARVHPGESNASWVMKGTLEFLVSSDPVARLLRENFIFKII
  PMLNPDGVINGNHRCSLSGEDLNRQWLSPSAHLQPTIYHAKGLLYHLSSIGRSPVVFCDF
  HGHSQKKNVFLYGCSIKETLWQAACTVGTSTILEEVNYRTLPKILDKLAPAFTMSSCSFL
  VEKSRASTARVVVWREMGVSRSYTMESSYCGCNQGPYQCTQRLLERTKNERAHPVDGLQG
  LQFGTRELEEMGAMFCLGLLILELKSASCSHQLLAQAATLLSAEEDALDQHLQRLKSSNF
  LPKHIWFAYHFFAITNFFKMNLLLHVSPVCDT

• Sequence length: 1112

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (29)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AGBL1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	26830138	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	22961001	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULIMIA NERVOSA	—	GWAS catalog	23568457	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	36215317	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy, Fuchs endothelial, 8	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	24094747	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	Orphanet	24094747	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL DYSTROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' endothelial dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	24094747	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	38714721	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	21448238	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29255261, 30643256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	18347602, 35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	26089329	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	33592630	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (19)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31647196		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	GWASDB_DG	21836138		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31885738	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22503546	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	22503546	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8	Corneal Endothelial Dystrophy	UNIPROT_DG	24094747		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8	Corneal Endothelial Dystrophy	GENOMICS_ENGLAND_DG	24094747		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8	Corneal Endothelial Dystrophy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8	Corneal Endothelial Dystrophy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	24094747		★☆☆☆☆ Found in Text Mining only
Fuchs endothelial corneal dystrophy	Fuchs Endothelial Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	24094747, 30267097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	ORPHANET_DG	24094747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	24094747, 40244234	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26089329		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22503546	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

COL8A2 2 shared diseasesCorneal dystrophy, Fuchs endothelial dystrophy 8 shared evidence sourcesCTD (Corneal dystrophy), GWAS catalog (Corneal dystrophy), Disgenet (Corneal dystrophy), HPO (Corneal dystrophy), ClinVar (Corneal dystrophy), Orphanet (Fuchs endothelial dystrophy), GWAS catalog (Fuchs endothelial dystrophy), Disgenet (Fuchs endothelial dystrophy) Related via 2 shared diseases including Corneal dystrophy, Fuchs endothelial dystrophy — evidence mostly GWAS catalog. SLC4A11 2 shared diseasesCorneal dystrophy, Fuchs endothelial dystrophy 8 shared evidence sourcesCTD (Corneal dystrophy), GWAS catalog (Corneal dystrophy), Disgenet (Corneal dystrophy), HPO (Corneal dystrophy), ClinVar (Corneal dystrophy), Orphanet (Fuchs endothelial dystrophy), GWAS catalog (Fuchs endothelial dystrophy), Disgenet (Fuchs endothelial dystrophy) Related via 2 shared diseases including Corneal dystrophy, Fuchs endothelial dystrophy — evidence mostly GWAS catalog. ZEB1 2 shared diseasesCorneal dystrophy, Fuchs endothelial dystrophy 7 shared evidence sourcesCTD (Corneal dystrophy), Disgenet (Corneal dystrophy), HPO (Corneal dystrophy), ClinVar (Corneal dystrophy), Orphanet (Fuchs endothelial dystrophy), GWAS catalog (Fuchs endothelial dystrophy), Disgenet (Fuchs endothelial dystrophy) Related via 2 shared diseases including Corneal dystrophy, Fuchs endothelial dystrophy — evidence mostly Disgenet. EFNA5 2 shared diseasesGestational diabetes, Idiopathic pulmonary fibrosis 2 shared evidence sourcesGWAS catalog (Gestational diabetes), GWAS catalog (Idiopathic pulmonary fibrosis) Related via 2 shared diseases including Gestational diabetes, Idiopathic pulmonary fibrosis — evidence mostly GWAS catalog. KANK4 2 shared diseasesCorneal dystrophy, Fuchs endothelial dystrophy 2 shared evidence sourcesGWAS catalog (Corneal dystrophy), GWAS catalog (Fuchs endothelial dystrophy) Related via 2 shared diseases including Corneal dystrophy, Fuchs endothelial dystrophy — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COL8A2	2	["Corneal dystrophy","Fuchs endothelial dystrophy"]	0	[]	8	["CTD (Corneal dystrophy)","GWAS catalog (Corneal dystrophy)","Disgenet (Corneal dystrophy)","HPO (Corneal dystrophy)","ClinVar (Corneal dystrophy)","Orphanet (Fuchs endothelial dystrophy)","GWAS catalog (Fuchs endothelial dystrophy)","Disgenet (Fuchs endothelial dystrophy)"]
SLC4A11	2	["Corneal dystrophy","Fuchs endothelial dystrophy"]	0	[]	8	["CTD (Corneal dystrophy)","GWAS catalog (Corneal dystrophy)","Disgenet (Corneal dystrophy)","HPO (Corneal dystrophy)","ClinVar (Corneal dystrophy)","Orphanet (Fuchs endothelial dystrophy)","GWAS catalog (Fuchs endothelial dystrophy)","Disgenet (Fuchs endothelial dystrophy)"]
ZEB1	2	["Corneal dystrophy","Fuchs endothelial dystrophy"]	0	[]	7	["CTD (Corneal dystrophy)","Disgenet (Corneal dystrophy)","HPO (Corneal dystrophy)","ClinVar (Corneal dystrophy)","Orphanet (Fuchs endothelial dystrophy)","GWAS catalog (Fuchs endothelial dystrophy)","Disgenet (Fuchs endothelial dystrophy)"]
EFNA5	2	["Gestational diabetes","Idiopathic pulmonary fibrosis"]	0	[]	2	["GWAS catalog (Gestational diabetes)","GWAS catalog (Idiopathic pulmonary fibrosis)"]
KANK4	2	["Corneal dystrophy","Fuchs endothelial dystrophy"]	0	[]	2	["GWAS catalog (Corneal dystrophy)","GWAS catalog (Fuchs endothelial dystrophy)"]

Diseases Linked via Similar Genes

Hereditary corneal dystrophy Linked via 3 of 5 related genesCOL8A2, SLC4A11, ZEB1 Polymorphous corneal dystrophy Linked via 2 of 5 related genesCOL8A2, ZEB1 Posterior polymorphous corneal dystrophy Linked via 2 of 5 related genesCOL8A2, ZEB1 Keratoconus Linked via 1 of 5 related genesCOL8A2 Open angle glaucoma Linked via 1 of 5 related genesCOL8A2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hereditary corneal dystrophy	3	["COL8A2","SLC4A11","ZEB1"]
Polymorphous corneal dystrophy	2	["COL8A2","ZEB1"]
Posterior polymorphous corneal dystrophy	2	["COL8A2","ZEB1"]
Keratoconus	1	["COL8A2"]
Open angle glaucoma	1	["COL8A2"]