AGBL4 - AGBL carboxypeptidase 4 Gene

Homo sapiens

Also known as CCP6

Gene ID: 84871 | Gene type: protein coding

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

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00442	AGBL4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

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

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