AGBL1 - AGBL carboxypeptidase 1 Gene

Homo sapiens

Also known as CCP4; FECD8

Gene ID: 123624 | Gene type: protein coding

About AGBL1

Cytogenetic location: 15q25.3 Genomic coordinates (GRCh38): 15:86,079,620-87,031,476 (from NCBI)

This gene has 6 transcripts (splice variants), 172 orthologues, 5 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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 polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]

AGBL1 Products(2)

mRNA	Protein	Name
NM_001386094.1	NP_001373023.1	cytosolic carboxypeptidase 4 isoform 1
NM_152336.4	NP_689549.3	cytosolic carboxypeptidase 4 isoform 2

AGBL1 Protein Structure

Peptidase_M14

0
200
400
600
800
1000
1066 a.a.

Protein Preferred Names

Protein Names

cytosolic carboxypeptidase 4

ATP/GTP binding protein like 1

Related Diseases

Diseases

Alias

Corneal Dystrophy, Fuchs Endothelial, 8

FECD8

Dystrophy, Corneal, Fuchs Endothelial, Type 8

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Corneal Dystrophy

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Corneal Disease

Corneal Diseases

Corneal Disorders

Corneal Dystrophy And Perceptive Deafness

Corneal Dystrophy-Perceptive Deafness Syndrome	CDPD
Harboyan Syndrome	Cdpd1
Corneal Dystrophy And Sensorineural Deafness	Corneal Endothelial Dystrophy And Perceptive Deafness
Corneal Dystrophy With Progressive Deafness	Congenital Corneal Dystrophy, Progressive Sensorineural Deafness
Corneal Dystrophy With Progressive Hearing Loss	Corneal Dystrophy-Perceptive Hearing Loss Syndrome
Dystrophy, Corneal, Endothelial, And Perceptive Deafness

Retinitis Pigmentosa 75

RP75	Retinitis Pigmentosa, Type 75

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Epithelial Recurrent Erosion Dystrophy

ERED	Corneal Erosions, Recurring Hereditary
Col17a1	Dystrophia Helsinglandica
Dystrophia Smolandiensis	Recurrent Hereditary Corneal Erosions
Rces	Recurrent Corneal Erosion Syndrome
Recurrent Erosion Of Cornea

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00440	AGBL1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AGBL1	VGNC	VGNC:84298
Rattus norvegicus	AGBL1	RGD	RGD:1560280
Canis familiaris	AGBL1	VGNC	VGNC:53145
Felis catus	AGBL1	VGNC	VGNC:59676
Bos taurus	AGBL1	VGNC	VGNC:106634
Mus musculus	AGBL1	MGD	MGI:3646469

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