Agtpbp1
entrez
67269
canonical
uniprot
Q641K1
canonical
ensembl
ENSMUSG00000021557
resolver
ensp
ENSMUSP00000022040
resolver
ensp
ENSMUSP00000105456
resolver
ensp
ENSMUSP00000127460
resolver
ensp
ENSMUSP00000128552
resolver
ensp
ENSMUSP00000130030
resolver
ensp
ENSMUSP00000132697
resolver
ensp
ENSMUSP00000217902
resolver
ensp
ENSMUSP00000217909
resolver
ensp
ENSMUSP00000217913
resolver
ensp
ENSMUSP00000217917
resolver
ensp
ENSMUSP00000217922
resolver
ensp
ENSMUSP00000217925
resolver
ensp
ENSMUSP00000217944
resolver
enst
ENSMUST00000167096
resolver
enst
ENSMUST00000168821
resolver
enst
ENSMUST00000170378
resolver
genesymbol
Agtpbp1
resolver
genesymbol_syn
Ccp1
resolver
genesymbol_syn
Nna1
resolver
uniprot
F7CVP4
resolver
uniprot
Q3TDS0
resolver
uniprot
Q3V147
resolver
uniprot
Q6P9R9
resolver
uniprot
Q8C1K8
resolver
uniprot
Q8C1R2
resolver
uniprot
Q9D962
resolver
uniprot
Q9EQI4
resolver
uniprot_entry
CBPC1_MOUSE
resolver
uniprot_entry
F7CVP4_MOUSE
resolver
uniprot_entry
Q8C1R2_MOUSE
resolver
uniprot_sec
Q3TDS0
resolver
uniprot_sec
Q3V147
resolver
uniprot_sec
Q6P9R9
resolver
uniprot_sec
Q8C1K8
resolver
uniprot_sec
Q9D962
resolver
uniprot_sec
Q9EQI4
resolver
amino_acid_sequence
MSKLKVVGEKSLTNSSRVVGLLAQLEKINTDSTESDTARYVTSKILHLAQSQEKTRREMTTKGSTGMEVLLSTLENTKDLQTVLNILSILIELVSSGGGRRASFLVAKGGSQILLQLLMNASKDSPPHEEVMVQTHSILAKIGPKDKKFGVKARVNGALTVTLNLVKQHFQNYRLVLPCLQLLRVYSTNSVNSVSLGKNGVVELMFKIIGPFSKKNSGLMKVALDTLAALLKSKTNARRAVDRGYVQVLLTIYVDWHRHDNRHRNMLIRKGILQSLKSVTNIKLGRKAFIDANGMKILYNTSQECLAVRTLDPLVNTSSLIMRKCFPKNRLPLPTIKSSFHFQLPIIPVTGPVAQLYSLPPEVDDVVDESDDNDDIDLEVENELENEDDLDQSFKNDDIETDINKLRPQQVPGRTIEELKMYEHLFPELVDDFQDYELISKEPKPFVFEGKARGPIVVPTAGEEVPGNSGSVKKGVVMKERASPKGEEAKEDPKGHDRTLPQQLGGQSRVAPSAHSFNNDLVKALDRITLQNVPSQVASGLNAGMRKDFGLPLTVLSCTKACPHVAKCGSTLFEGRTVHLGKLCCTGVETEDDEDTESHSSTEQAPSVEASDGPTLHDPDLYIEIVKNTKSVPEYSEVAYPDYFGHIPPPFKEPILERPYGVQRTKIAQDIERLIHQNDIIDRVVYDLDNPTYTTPEEGDTLKFNSKFESGNLRKVIQIRKSEYDLILNSDINSNHYHQWFYFEVSGMRPGVAYRFNIINCEKSNSQFNYGMQPLMYSVQEALNARPWWIRMGTDICYYKNHFSRSSVAAGGQKGKSYYTITFTVNFPHKDDVCYFAYHYPYTYSTLQMHLQKLESAHNPQQIYFRKDVLCETLSGNICPLVTITAMPESNYYEHICQFRTRPYIFLSARVHPGETNASWVMKGTLEYLMSNSPTAQSLRESYIFKIVPMLNPDGVINGNHRCSLSGEDLNRQWQSPNPELHPTIYHAKGLLQYLAAVKRLPLVYCDYHGHSRKKNVFMYGCSIKETVWHTHDNSASCDIVEDMGYRTLPKILSHIAPAFCMSSCSFVVEKSKESTARVVVWREIGVQRSYTMESTLCGCDQGRYKGLQIGTRELEEMGAKFCVGLLRLKRLTSSLEYNLPSNLLDFENDLIESSCKVTSPTTYVLDEDEPRFLEEVDYSAESNDELDVELAENTGDYEPSAQEEALSDSEVSRTHLI
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Agtpbp1 are the cause of Purkinje cell degeneration (pcd). Pcd is a spontaneous mutation that results in adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons and selected thalamic neurons, and causes defective spermatogenesis. Pcd mice also manifest cerebellar atrophy and a peripheral nerve degeneration resulting in pure motor or motor-predominant neuropathy. Motoric femoral quadriceps nerves are characterized by reduced total calibers, a loss of myelinated axons, perturbed axon morphology, and macrophage activation. The amount of motor neurons in the ventral horns of lumbar spinal cords is reduced. These anomalies are accompanied by dysregulated tubulin polyglutamylation (PubMed:30420557). Defects in mitochondrial metabolic functions are also observed. The molecular causes of neurodegeneration 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. {ECO:0000269|PubMed:11884758, ECO:0000269|PubMed:16465590, ECO:0000269|PubMed:16942761, ECO:0000269|PubMed:16952463, ECO:0000269|PubMed:18602413, ECO:0000269|PubMed:20620870, ECO:0000269|PubMed:20920790, ECO:0000269|PubMed:21074048, ECO:0000269|PubMed:30420557}.
uniprot
proteins
ec_number
3.4.17.-
uniprot
proteins
ec_number
3.4.17.24
uniprot
proteins
function
FUNCTION: Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:21074048, PubMed:22170066, PubMed:25103237, PubMed:29593216, PubMed:30420557). Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- and beta-tubulin (PubMed:22170066, PubMed:25103237, PubMed:30420557). Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate (PubMed:21074048). Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of alpha-tubulin as well as non-tubulin proteins such as MYLK (PubMed:21074048, PubMed:22170066). Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis (PubMed:29593216). {ECO:0000269|PubMed:21074048, ECO:0000269|PubMed:22170066, ECO:0000269|PubMed:25103237, ECO:0000269|PubMed:29593216, ECO:0000269|PubMed:30420557}.
uniprot
proteins
mass_dalton
137197
uniprot
proteins
mutagenesis
MUTAGEN 686; /note="Y->D: Decreased tubulin deglutamylation."; /evidence="ECO:0000269|PubMed:30420557"; MUTAGEN 843; /note="T->M: Decreased tubulin deglutamylation."; /evidence="ECO:0000269|PubMed:30420557"; MUTAGEN 910; /note="R->W: Decreased tubulin deglutamylation."; /evidence="ECO:0000269|PubMed:30420557"; MUTAGEN 912; /note="H->A: Abolishes ability to rescue Purkinje cell degeneration in pcd mice when expressed in a transgene."; /evidence="ECO:0000269|PubMed:18602413, ECO:0000269|PubMed:20620870, ECO:0000269|PubMed:21074048"; MUTAGEN 912; /note="H->S: Abolishes deglutamylase activity; when associated with Q-915."; /evidence="ECO:0000269|PubMed:18602413, ECO:0000269|PubMed:20620870, ECO:0000269|PubMed:21074048"; MUTAGEN 915; /note="E->A: Abolishes ability to rescue Purkinje cell degeneration in pcd mice when expressed in a transgene."; /evidence="ECO:0000269|PubMed:18602413, ECO:0000269|PubMed:20620870, ECO:0000269|PubMed:21074048"; MUTAGEN 915; /note="E->Q: Abolishes deglutamylase activity; when associated with S-912."; /evidence="ECO:0000269|PubMed:18602413, ECO:0000269|PubMed:20620870, ECO:0000269|PubMed:21074048"; MUTAGEN 971..972; /note="NR->AA: Abolishes ability to rescue Purkinje cell degeneration in pcd mice when expressed in a transgene."; /evidence="ECO:0000269|PubMed:16952463"; MUTAGEN 982; /note="H->L: Decreased tubulin deglutamylation."; /evidence="ECO:0000269|PubMed:30420557
uniprot
proteins
protein_family
Peptidase M14 family
uniprot
proteins
pubmed
11083920
uniprot
proteins
pubmed
11884758
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16465590
uniprot
proteins
pubmed
16942761
uniprot
proteins
pubmed
16952463
uniprot
proteins
pubmed
18602413
uniprot
proteins
pubmed
20620870
uniprot
proteins
pubmed
20920790
uniprot
proteins
pubmed
21074048
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
22170066
uniprot
proteins
pubmed
25103237
uniprot
proteins
pubmed
29593216
uniprot
proteins
pubmed
30420557
uniprot
proteins
sequence_length
1218
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9UPW5}. Cytoplasm, cytosol {ECO:0000269|PubMed:11083920}. Nucleus {ECO:0000269|PubMed:11083920}. Mitochondrion {ECO:0000269|PubMed:20620870}. Note=Localizes in both the cytoplasm and nuclei of interphase and dividing cells. {ECO:0000250|UniProtKB:Q9UPW5}.
uniprot
proteins