country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

AGTPBP1 - ATP/GTP binding carboxypeptidase 1 Gene

Also Known as CCP1; NNA1; CONDCA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23287

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables metallocarboxypeptidase activity	IDA IDA: Inferred from direct assay	22170066	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in C-terminal protein deglutamylation	IDA IDA: Inferred from direct assay	22170066	GOA
involved in protein deglutamylation	IMP IMP: Inferred from mutant phenotype	30420557	GOA
involved in protein side chain deglutamylation	IDA IDA: Inferred from direct assay	22170066	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00467	AGTPBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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