2. Gene
  3. AGBL5 - AGBL carboxypeptidase 5 Gene

AGBL5 - AGBL carboxypeptidase 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CCP5; RP75

Gene ID: 60509 | Gene type: protein coding

About AGBL5

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,050,364-27,070,618 (from NCBI)

This gene has 10 transcripts (splice variants), 193 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 145.3), thyroid (RPKM 14.3) and 7 other tissues.

Summary

This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in Antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]

AGBL5 Products(2)

mRNA Protein Name
NM_001035507.3 NP_001030584.1 cytosolic carboxypeptidase-like protein 5 isoform 3
NM_021831.6 NP_068603.4 cytosolic carboxypeptidase-like protein 5 isoform 1

AGBL5 Protein Structure

Peptidase_M14

Peptidase_M14: Zinc carboxypeptidase (237 - 318)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 886 a.a.
Protein Preferred Names Protein Names

cytosolic carboxypeptidase-like protein 5

ATP/GTP binding protein like 5

Related Diseases

Diseases Alias
Retinitis Pigmentosa 75

RP75

Retinitis Pigmentosa, Type 75
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Cataract 3, Multiple Types

Cataract 3 Multiple Types

CTRCT3

Cca2

Cataract, Congenital, Cerulean Type, 2

Cataract 3, Multiple Types, With Or Without Microcornea

Cataract 3 Multiple Types With Or Without Microcornea

Congenital Cerulean Type Cataract 2

Congenital Cataract Blue Dot Type 2

Congenital Cataract Cerulean Type 2

Cspc

Sutural Cataract With Punctate And Cerulean Opacities
Retinitis Pigmentosa 66

RP66

Retinitis Pigmentosa, Type 66
Combined Oxidative Phosphorylation Deficiency 20

COXPD20

Combined Oxidative Phosphorylation Defect Type 20

Oxidative Phosphorylation Deficiency, Combined, Type 20
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Cataract 11, Multiple Types

Cataract, Posterior Polar, 4

Ctpp4

Cpp4

Cataract 11 Multiple Types

CTRCT11

Cataract 11, Syndromic, Autosomal Recessive

Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

Posterior Polar Cataract 4

Posterior Polar Cataract, 4

Cataract Posterior Polar 4

Syndromic Cataract 11

Cataract, Type 11, Multiple Types
Bardet-Biedl Syndrome 16

BBS16

Bardet-Biedl Syndrome, Type 16
Macular Degeneration, Age-Related, 2

Age Related Macular Degeneration 2

ARMD2

Macular Degeneration, Senile

Maculopathy, Age-Related, 2

Macular Degeneration, Age-Related, 2, Susceptibility To

Macular Degeneration, Age-Related, Type 2
Finger Agnosia
Doyne Honeycomb Retinal Dystrophy

DHRD

Doyne Honeycomb Degeneration Of Retina

Dhd

Malattia Leventinese

Ml

Mlvt

Dystrophy, Retinal, Doyne Honeycomb
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-RS00443 AGBL5 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris AGBL5 VGNC VGNC:37698
Bos taurus AGBL5 VGNC VGNC:25723
Macaca mulatta AGBL5 VGNC VGNC:82101
Mus musculus AGBL5 MGD MGI:2441745
Felis catus AGBL5 VGNC VGNC:59679
Rattus norvegicus AGBL5 RGD RGD:1598311