Agtpbp1
Gene Detail

Symbol Name ID

Agtpbp1 ATP/GTP binding protein 1 MGI:2159437

Synonyms

1700020N17Rik, 2310001G17Rik, 2900054O13Rik, 4930445M19Rik, 5730402G09Rik, nmf243, Nna1

Feature Type

protein coding gene

Genetic Map

Chromosome 13

31.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)

Sequence Map

Chr13:59449537-59585227 bp, - strand From VEGA annotation of GRCm38   135691 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:9067  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Agtpbp1

Human homologs

Human Homolog		AGTPBP1, ATP/GTP binding protein 1
NCBI Gene ID		23287
neXtProt AC		NX_Q9UPW5
Human Synonyms		CCP1, NNA1
Human Chr (Location)		9q21.33; chr9:88161454-88356944 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(19) : Gene trapped(7) Transgenic(1) Spontaneous(6) Chemically induced(5)
 

Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile.

 
Human Diseases Modeled Using Mouse Agtpbp1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (31 annotations)

Process	adult walking behavior, cell death, ...
Component	cytoplasm, cytosol, ...
Function	carboxypeptidase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (170)    Tissues (46)    Images (54)
Theiler Stages: 19, 22, 23, 25, 28

Assay Type	Results
RNA in situ	158
RT-PCR	12

cDNA source data(20)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(26) Genomic(1) cDNA(22) Primer pair(3)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000035354 (Evidence)
Ensembl Gene Model	ENSMUSG00000021557 (Evidence)
Entrez Gene	67269 (Evidence)
DFCI	TC1578973, TC1586050, TC1593599, TC1603506, TC1606364, TC1610931, TC1636438, TC1636588, TC1670366, TC1701767, TC1714363, TC1750777
DoTS	DT.101323270, DT.101353189, DT.101384842, DT.101703215, DT.101736879, DT.110974931, DT.527005, DT.55220302, DT.55232398, DT.91429199, DT.91588723, DT.94158776, DT.94266764, DT.94273792, DT.97414227, DT.99848187
NIA Mouse Gene Index	U034857, U034858
EC	3.4.17.-
Consensus CDS Project	CCDS36686.1, CCDS36687.1
International Mouse Knockout Project Status	Agtpbp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000035354	VEGA Gene Model | MGI Sequence Detail	135691	C57BL/6J
transcript	OTTMUST00000090298	VEGA | MGI Sequence Detail	4356	Not Applicable
polypeptide	OTTMUSP00000049503	VEGA | MGI Sequence Detail	1218	Not Applicable

All sequences(156) RefSeq(4) UniProt(11)

Polymorphisms

RFLP(1) : SNPs(707 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011989	Armadillo-like helical
InterPro	IPR016024	Armadillo-type fold
InterPro	IPR000834	Peptidase M14, carboxypeptidase A
Protein Ontology	PR:000003848	cytosolic carboxypeptidase 1

References

(Earliest) J:5597 Mullen RJ, et al., Two types of retinal degeneration in cerebellar mutant mice. Nature. 1975 Dec 11;258(5535):528-30
(Latest) J:191138 Baltanas FC, et al., Differential glial activation during the degeneration of Purkinje cells and mitral cells in the PCD mutant mice. Glia. 2013 Feb;61(2):254-72
All references(148)

Other accession IDs

MGD-MRK-13173, MGI:1914519, MGI:1916623, MGI:1921986, MGI:1922111, MGI:1923828, MGI:2145471, MGI:97500