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AGBL1 - AGBL carboxypeptidase 1 Gene

Also Known as CCP4; FECD8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 123624

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

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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

Pre-clinical Phase

Bioactive Molecules (1)

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