AGTPBP1 - ATP/GTP binding carboxypeptidase 1 Gene

Homo sapiens

Also known as CCP1; NNA1; CONDCA

Gene ID: 23287 | Gene type: protein coding

About AGTPBP1

Cytogenetic location: 9q21.33 Genomic coordinates (GRCh38): 9:85,546,539-85,805,483 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 7.2), brain (RPKM 4.8) and 23 other tissues.

Summary

NNA1 is a zinc Carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]

AGTPBP1 Products(4)

mRNA	Protein	Name
NM_001286715.1	NP_001273644.1	cytosolic carboxypeptidase 1 isoform a
NM_001286717.1	NP_001273646.1	cytosolic carboxypeptidase 1 isoform c
NM_001330701.2	NP_001317630.1	cytosolic carboxypeptidase 1 isoform d
NM_015239.3	NP_056054.2	cytosolic carboxypeptidase 1 isoform b

AGTPBP1 Protein Structure

Peptidase_M14

0
200
400
600
800
1000
1226 a.a.

Protein Preferred Names

Protein Names

cytosolic carboxypeptidase 1

ATP/GTP binding protein 1

Related Diseases

Diseases

Alias

Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy

CONDCA

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures

NEDCAS

Neurodevelopmental Disorder With Cerebellar Atrophy, With/Without Seizures

Retinitis Pigmentosa 75

RP75	Retinitis Pigmentosa, Type 75

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

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-RS00467	AGTPBP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AGTPBP1	VGNC	VGNC:37719
Mus musculus	AGTPBP1	MGD	MGI:2159437
Rattus norvegicus	AGTPBP1	RGD	RGD:1306307
Macaca mulatta	AGTPBP1	VGNC	VGNC:69622
Felis catus	AGTPBP1	VGNC	VGNC:59691
Bos taurus	AGTPBP1	VGNC	VGNC:25744

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