Agtpbp1 ATP/GTP binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Agtpbp1provided by MGI
Official Full Name: ATP/GTP binding protein 1provided by MGI
Primary source: MGI:MGI:2159437
See related: Ensembl:ENSMUSG00000021557 AllianceGenome:MGI:2159437
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: pcd; CCP1; Nna1; atms; nmf243; 1700020N17Rik; 2310001G17Rik; 2900054O13Rik; 4930445M19Rik; 5730402G09Rik
Summary: Enables metallocarboxypeptidase activity and tubulin binding activity. Involved in several processes, including nervous system development; neuromuscular process; and protein deglutamylation. Acts upstream of or within several processes, including adult walking behavior; axonal transport of mitochondrion; and central nervous system development. Located in cytosol; mitochondrion; and nucleus. Is expressed in several structures, including central nervous system; early embryo; genitourinary system; liver; and retina. Used to study retinitis pigmentosa. Orthologous to human AGTPBP1 (ATP/GTP binding carboxypeptidase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cerebellum adult (RPKM 16.1), cortex adult (RPKM 14.6) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B2; 13

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (59597348..59705184, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (59449534..59557370, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.
Title: Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.
CCP1, a Regulator of Tubulin Post-Translational Modifications, Potentially Plays an Essential Role in Cerebellar Development.
Title: CCP1, a Regulator of Tubulin Post-Translational Modifications, Potentially Plays an Essential Role in Cerebellar Development.
Nna1, Essential for Purkinje Cell Survival, Is also Associated with Emotion and Memory.
Title: Nna1, Essential for Purkinje Cell Survival, Is also Associated with Emotion and Memory.
The AGTPBP1 gene in neurobiology.
Title: The AGTPBP1 gene in neurobiology.
Nna1 gene deficiency triggers Purkinje neuron death by tubulin hyperglutamylation and ER dysfunction.
Title: Nna1 gene deficiency triggers Purkinje neuron death by tubulin hyperglutamylation and ER dysfunction.
we demonstrated that the Agtpbp1 gene mutation induces a p53-dependent nucleolar stress response in PCs, which is characterized by nucleolar fragmentation, nucleoplasmic and cytoplasmic mislocalization of nucleolin, and dysfunction of both pre-rRNA processing and mRNA translation.
Title: Nucleolin reorganization and nucleolar stress in Purkinje cells of mutant PCD mice.
CCP1 promotes mitochondrial fusion and motility to prevent Purkinje cell neuron loss in Purkinje cell degeneration mice.
Title: CCP1 promotes mitochondrial fusion and motility to prevent Purkinje cell neuron loss in pcd mice.
We report the generation of a functional Nna1 conditional allele and possible mechanisms of Purkinje cell death in the Nna1 knockout in the cerebellum
Title: Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd) phenotype.
Lack of Cytosolic Carboxypeptidase 1 Leads to Subfertility due to the Reduced Number of Antral Follicles in pcd3J-/- Females.
Title: Lack of Cytosolic Carboxypeptidase 1 Leads to Subfertility due to the Reduced Number of Antral Follicles in pcd3J-/- Females.
Nna1 and CCP4 remove the C-terminal glutamate from substrates with two or more glutamates, whereas CCP6 requires four or more glutamates. CCP4 behaves as a promiscuous glutamase with little preference for chain length or neighboring amino acid composition
Title: Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (6) 1 citation
Endonuclease-mediated (1)
Gene trapped (1)
Spontaneous (8) 1 citation
Targeted (4) 1 citation
Transgenic (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB114605 (e-PCR)
- UniSTS:185975

Agtpbp1 (e-PCR), detects polymorphism
- UniSTS:525974

Agtpbp1 (e-PCR), detects polymorphism
- UniSTS:525975

Agtpbp1 (e-PCR), detects polymorphism
- UniSTS:525976

Clone Names

MGC90651, mKIAA1035, 1700020N17Rik, 2310001G17Rik, 2900054O13Rik, 4930445M19Rik, 5730402G09Rik

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metallocarboxypeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallocarboxypeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metallocarboxypeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metallocarboxypeptidase activity	ISO Inferred from Sequence Orthology more info
enables metallocarboxypeptidase activity	TAS Traceable Author Statement more info
enables peptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in C-terminal protein deglutamylation	IDA Inferred from Direct Assay more info	PubMed
involved_in C-terminal protein deglutamylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in C-terminal protein deglutamylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterograde axonal transport of mitochondrion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axonal transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within central nervous system neuron development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellar Purkinje cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell layer development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in olfactory bulb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein deglutamylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein deglutamylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deglutamylation	ISO Inferred from Sequence Orthology more info
involved_in protein side chain deglutamylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein side chain deglutamylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein side chain deglutamylation	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retrograde axonal transport of mitochondrion	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytosolic carboxypeptidase 1

Names: Purkinje cell degeneration; nervous system nuclear protein induced by axotomy protein 1; nuclear ATP/GTP-binding protein; protein deglutamylase CCP1

NP_001041473.1

EC 3.4.17.24

NP_001271147.1

EC 3.4.17.24

NP_001271148.1

EC 3.4.17.24

NP_001271150.1

EC 3.4.17.24

NP_001364026.1

EC 3.4.17.24

NP_075817.2

EC 3.4.17.24

XP_006517399.1

EC 3.4.17.24

XP_006517400.1

EC 3.4.17.24

XP_006517401.1

EC 3.4.17.24

XP_006517402.1

EC 3.4.17.24

XP_006517403.1

EC 3.4.17.24

XP_006517405.1

EC 3.4.17.24

XP_011242858.1

EC 3.4.17.24

XP_011242859.1

EC 3.4.17.24

XP_030103240.1

EC 3.4.17.24

XP_036014026.1

EC 3.4.17.24

XP_036014027.1

EC 3.4.17.24

XP_036014028.1

EC 3.4.17.24

XP_036014030.1

EC 3.4.17.24

XP_036014031.1

EC 3.4.17.24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001048008.2 → NP_001041473.1 cytosolic carboxypeptidase 1 isoform 2

See identical proteins and their annotated locations for NP_001041473.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AK132695, BB707303, CA528796

Consensus CDS

CCDS36687.1

UniProtKB/TrEMBL

F6ZCF0

Related

ENSMUSP00000105456.3, ENSMUST00000109830.9
NM_001284218.1 → NP_001271147.1 cytosolic carboxypeptidase 1 isoform 2

See identical proteins and their annotated locations for NP_001271147.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AK132695, AK133215, BB707303, CA528796

Consensus CDS

CCDS36687.1

UniProtKB/TrEMBL

F6ZCF0

Related

ENSMUSP00000132697.2, ENSMUST00000171606.9

Conserved Domains (1) summary

pfam15576
Location:451 → 516

DUF4661; Domain of unknown function (DUF4661)
NM_001284219.1 → NP_001271148.1 cytosolic carboxypeptidase 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC135469, AK013688, BC060633, BC082335, BY597236

UniProtKB/Swiss-Prot

Q641K1

Conserved Domains (2) summary

cd06906
Location:596 → 866

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:439 → 573

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
NM_001284221.2 → NP_001271150.1 cytosolic carboxypeptidase 1 isoform 4

See identical proteins and their annotated locations for NP_001271150.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) has a shorter 5' UTR and uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (4) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC135469

Consensus CDS

CCDS70470.1

UniProtKB/Swiss-Prot

Q641K1

UniProtKB/TrEMBL

Q8C1R2

Related

ENSMUSP00000130939.2, ENSMUST00000164215.8

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
NM_001377097.1 → NP_001364026.1 cytosolic carboxypeptidase 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC135469

UniProtKB/Swiss-Prot

Q3TDS0, Q3V147, Q641K1, Q6P9R9, Q8C1K8, Q9D962, Q9EQI4

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
NM_023328.3 → NP_075817.2 cytosolic carboxypeptidase 1 isoform 1

See identical proteins and their annotated locations for NP_075817.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK013688, AK015394, BC060633, BC082335, BY597236, CA528796

Consensus CDS

CCDS36686.1

UniProtKB/Swiss-Prot

Q3TDS0, Q3V147, Q641K1, Q6P9R9, Q8C1K8, Q9D962, Q9EQI4

Related

ENSMUSP00000022040.7, ENSMUST00000022040.14

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

59597348..59705184 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244557.4 → XP_011242859.1 cytosolic carboxypeptidase 1 isoform X4

Conserved Domains (2) summary

cd06906
Location:861 → 1110

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_036158137.1 → XP_036014030.1 cytosolic carboxypeptidase 1 isoform X5

Conserved Domains (2) summary

cd06906
Location:754 → 1024

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:597 → 731

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_036158135.1 → XP_036014028.1 cytosolic carboxypeptidase 1 isoform X3

Conserved Domains (2) summary

cd06906
Location:803 → 1073

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:646 → 780

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_006517339.3 → XP_006517402.1 cytosolic carboxypeptidase 1 isoform X2

See identical proteins and their annotated locations for XP_006517402.1

Conserved Domains (2) summary

cd06906
Location:812 → 1082

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:655 → 789

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_036158138.1 → XP_036014031.1 cytosolic carboxypeptidase 1 isoform X6

Conserved Domains (2) summary

cd06906
Location:596 → 866

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:439 → 573

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_030247380.1 → XP_030103240.1 cytosolic carboxypeptidase 1 isoform X6

Conserved Domains (2) summary

cd06906
Location:596 → 866

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:439 → 573

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_006517342.4 → XP_006517405.1 cytosolic carboxypeptidase 1 isoform X5

Conserved Domains (2) summary

cd06906
Location:754 → 1024

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:597 → 731

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_006517340.4 → XP_006517403.1 cytosolic carboxypeptidase 1 isoform X3

Conserved Domains (2) summary

cd06906
Location:803 → 1073

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:646 → 780

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_036158134.1 → XP_036014027.1 cytosolic carboxypeptidase 1 isoform X3

Conserved Domains (2) summary

cd06906
Location:803 → 1073

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:646 → 780

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_011244556.3 → XP_011242858.1 cytosolic carboxypeptidase 1 isoform X2

See identical proteins and their annotated locations for XP_011242858.1

Conserved Domains (2) summary

cd06906
Location:812 → 1082

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:655 → 789

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_006517336.4 → XP_006517399.1 cytosolic carboxypeptidase 1 isoform X1

See identical proteins and their annotated locations for XP_006517399.1

UniProtKB/Swiss-Prot

Q3TDS0, Q3V147, Q641K1, Q6P9R9, Q8C1K8, Q9D962, Q9EQI4

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_006517338.5 → XP_006517401.1 cytosolic carboxypeptidase 1 isoform X1

See identical proteins and their annotated locations for XP_006517401.1

UniProtKB/Swiss-Prot

Q3TDS0, Q3V147, Q641K1, Q6P9R9, Q8C1K8, Q9D962, Q9EQI4

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_006517337.5 → XP_006517400.1 cytosolic carboxypeptidase 1 isoform X1

See identical proteins and their annotated locations for XP_006517400.1

UniProtKB/Swiss-Prot

Q3TDS0, Q3V147, Q641K1, Q6P9R9, Q8C1K8, Q9D962, Q9EQI4

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
XM_036158133.1 → XP_036014026.1 cytosolic carboxypeptidase 1 isoform X1

UniProtKB/Swiss-Prot

Q3TDS0, Q3V147, Q641K1, Q6P9R9, Q8C1K8, Q9D962, Q9EQI4

Conserved Domains (2) summary

cd06906
Location:861 → 1131

M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases

pfam18027
Location:704 → 838

Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain