AGBL5 - AGBL carboxypeptidase 5 Gene

Also Known as CCP5; RP75

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60509

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

Gene Ontology

  • Cellular Component
Cellular Component GO Annotation Evidence References Source
located in midbody IDA
IDA: Inferred from direct assay
23085998 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
23085998 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23085998 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00443 AGBL5 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others AGBL5 NCBI