AGBL4 - AGBL carboxypeptidase 4 Gene

Also Known as CCP6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84871

About AGBL4

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:48,522,511-50,023,954 (from NCBI)

This gene has 5 transcripts (splice variants), 217 orthologues and 5 paralogues. Low expression observed in reference dataset.

Summary

Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in C-terminal protein deglutamylation; defense response to virus; and protein side chain deglutamylation. Predicted to act upstream of or within several processes, including axonal transport of mitochondrion; positive regulation of ubiquitin-dependent protein catabolic process; and regulation of blastocyst development. Located in Golgi apparatus; centriole; and ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]

AGBL4 Products (4)

mRNA Protein Name
NM_001323573.2 NP_001310502.1 cytosolic carboxypeptidase 6 isoform 2
NM_001323574.2 NP_001310503.1 cytosolic carboxypeptidase 6 isoform 3
NM_001323575.2 NP_001310504.1 cytosolic carboxypeptidase 6 isoform 4
NM_032785.4 NP_116174.3 cytosolic carboxypeptidase 6 isoform 1
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
23085998 GOA
located in centriole IDA
IDA: Inferred from direct assay
23085998 GOA
located in ciliary basal body 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

AGBL4 Protein Structure

Peptidase_M14

Peptidase_M14: Zinc carboxypeptidase (176 - 407)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 503 a.a.
Protein Preferred Names Protein Names

cytosolic carboxypeptidase 6

  • ATP/GTP binding protein like 4

Related Diseases

Diseases Alias
Cardiofaciocutaneous Syndrome 3
  • CFC3

  • Cardiofaciocutaneous Syndrome, Type 3

Cardiofaciocutaneous Syndrome 2
  • CFC2

  • Cardiofaciocutaneous Syndrome, Type 2

Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis
  • ECTD14

  • Ectodermal Dysplasia 14

  • Ectn14

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

Congenital Mesoblastic Nephroma
  • Mesoblastic Nephroma

  • Nephroma, Mesoblastic

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AGBL4 RGD RGD:6493177
Canis familiaris AGBL4 VGNC VGNC:54556
Mus musculus AGBL4 MGD MGI:1918244