InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Agtpbp1

Summary

InnateDB Protein

IDBP-623815.2

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Agtpbp1

Protein Name

ATP/GTP binding protein 1

Synonyms

1700020N17Rik; 2310001G17Rik; 2900054O13Rik; 4930445M19Rik; 5730402G09Rik; CCP1; nmf243; Nna1; pcd;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000130939

InnateDB Gene

IDBG-158577 (Agtpbp1)

Protein Structure

UniProt Annotation

Function

Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. Deglutamylation plays a key role in cerebellar Purkinje cell differentiation, accumulation of tubulin polyglutamylation causing neurodegeneration. {ECO:0000269PubMed:21074048}.

Subcellular Localization

Cytoplasm, cytosol. Nucleus. Mitochondrion.

Disease Associations

Note=Defects in Agtpbp1 are the cause of Purkinje cell degeneration (pcd). Pcd is a spontaneous mutation that causes adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Defects in mitochondrial metabolic functions are also observed. The molecular causes of neurodegeneration are still unclear, but they are probably due to an accumulation of glutamylation, either tubulin hyperglutamylation or another hyperglutamylated target proteins. An increase of intranuclear localization of lysyl oxidase (Lox) propeptide, which interferes with NF-kappa-B Rela signaling and microtubule-associated protein regulation of microtubule stability is also observed, possibly leading to underdevelopment of Purkinje cell dendrites.

Tissue Specificity

Highly expressed in the cerebellum and cortex of adult mouse brain. Expressed at similar levels in both the cerebellum and the cortex throughout all developmental stages. Also expressed in sciatic nerve transection, spinal motor neurons undergoing axon regeneration, testis, heart and in developing brain. Expression in cranial motor nuclei is the same as that observed in uninjured primary motor neurons. Expression is prevalent in sensory neurons and hippocampal CA3 neurons in addition to regenerating motor neurons. {ECO:0000269PubMed:11884758, ECO:0000269PubMed:21074048}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004181	metallocarboxypeptidase activity
GO:0005488	binding
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0008270	zinc ion binding
GO:0015631	tubulin binding
GO:0046961	proton-transporting ATPase activity, rotational mechanism

Biological Process

GO:0001754	eye photoreceptor cell differentiation
GO:0006508	proteolysis
GO:0007005	mitochondrion organization
GO:0007628	adult walking behavior
GO:0008219	cell death
GO:0015991	ATP hydrolysis coupled proton transport
GO:0021549	cerebellum development
GO:0021680	cerebellar Purkinje cell layer development
GO:0021702	cerebellar Purkinje cell differentiation
GO:0021772	olfactory bulb development
GO:0035609	C-terminal protein deglutamylation
GO:0035610	protein side chain deglutamylation
GO:0042133	neurotransmitter metabolic process
GO:0050905	neuromuscular process
GO:0060041	retina development in camera-type eye