AGTPBP1
entrez
23287
canonical
uniprot
Q9UPW5
canonical
ensembl
ENSG00000135049
resolver
ensp
ENSP00000338512
resolver
ensp
ENSP00000349592
resolver
ensp
ENSP00000365251
resolver
ensp
ENSP00000487074
resolver
ensp
ENSP00000571941
resolver
ensp
ENSP00000571942
resolver
ensp
ENSP00000711824
resolver
ensp
ENSP00000781617
resolver
enst
ENST00000337006
resolver
genesymbol
AGTPBP1
resolver
genesymbol_syn
CCP1
resolver
genesymbol_syn
KIAA1035
resolver
genesymbol_syn
NNA1
resolver
hgnc
HGNC:17258
resolver
uniprot
B4DIT6
resolver
uniprot
B4DRZ8
resolver
uniprot
J3KNS1
resolver
uniprot
Q5VV80
resolver
uniprot
Q63HM7
resolver
uniprot
Q658P5
resolver
uniprot
Q6P9D6
resolver
uniprot
Q9H8U6
resolver
uniprot
Q9H9W8
resolver
uniprot
Q9NVK1
resolver
uniprot_entry
CBPC1_HUMAN
resolver
uniprot_entry
J3KNS1_HUMAN
resolver
uniprot_sec
B4DIT6
resolver
uniprot_sec
B4DRZ8
resolver
uniprot_sec
Q5VV80
resolver
uniprot_sec
Q63HM7
resolver
uniprot_sec
Q658P5
resolver
uniprot_sec
Q6P9D6
resolver
uniprot_sec
Q9H8U6
resolver
uniprot_sec
Q9H9W8
resolver
uniprot_sec
Q9NVK1
resolver
amino_acid_sequence
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKDKKFGVKARINGALNITLNLVKQNLQNHRLVLPCLQLLRVYSANSVNSVSLGKNGVVELMFKIIGPFSKKNSSLIKVALDTLAALLKSKTNARRAVDRGYVQVLLTIYVDWHRHDNRHRNMLIRKGILQSLKSVTNIKLGRKAFIDANGMKILYNTSQECLAVRTLDPLVNTSSLIMRKCFPKNRLPLPTIKSSFHFQLPVIPVTGPVAQLYSLPPEVDDVVDESDDNDDIDVEAENETENEDDLDQNFKNDDIETDINKLKPQQEPGRTIEDLKMYEHLFPELVDDFQDYDLISKEPKPFVFEGKVRGPIVVPTAGEETSGNSGNLRKVVMKENISSKGDEGEKKSTFMDLAKEDIKDNDRTLQQQPGDQNRTISSVHGLNNDIVKALDRITLQNIPSQTAPGFTAEMKKDCSLPLTVLTCAKACPHMATCGNVLFEGRTVQLGKLCCTGVETEDDEDTESNSSVEQASVEVPDGPTLHDPDLYIEIVKNTKSVPEYSEVAYPDYFGHIPPPFKEPILERPYGVQRTKIAQDIERLIHQSDIIDRVVYDLDNPNYTIPEEGDILKFNSKFESGNLRKVIQIRKNEYDLILNSDINSNHYHQWFYFEVSGMRPGVAYRFNIINCEKSNSQFNYGMQPLMYSVQEALNARPWWIRMGTDICYYKNHFSRSSVAAGGQKGKSYYTITFTVNFPHKDDVCYFAYHYPYTYSTLQMHLQKLESAHNPQQIYFRKDVLCETLSGNSCPLVTITAMPESNYYEHICHFRNRPYVFLSARVHPGETNASWVMKGTLEYLMSNNPTAQSLRESYIFKIVPMLNPDGVINGNHRCSLSGEDLNRQWQSPSPDLHPTIYHAKGLLQYLAAVKRLPLVYCDYHGHSRKKNVFMYGCSIKETVWHTNDNATSCDVVEDTGYRTLPKILSHIAPAFCMSSCSFVVEKSKESTARVVVWREIGVQRSYTMESTLCGCDQGKYKGLQIGTRELEEMGAKFCVGLLRLKRLTSPLEYNLPSSLLDFENDLIESSCKVTSPTTYVLDEDEPRFLEEVDYSAESNDELDIELAENVGDYEPSAQEEVLSDSELSRTYLP
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]: An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur. {ECO:0000269|PubMed:30420557}. Note=The disease is caused by variants affecting the gene represented in this entry.
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:22170066, PubMed:24022482, 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:24022482, PubMed:30420557). Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate (PubMed:24022482). Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of alpha-tubulin as well as non-tubulin proteins such as MYLK (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:22170066, ECO:0000269|PubMed:24022482, ECO:0000269|PubMed:29593216, ECO:0000269|PubMed:30420557}.
uniprot
proteins
mass_dalton
138448
uniprot
proteins
protein_family
Peptidase M14 family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17244818
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22170066
uniprot
proteins
pubmed
23085998
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24022482
uniprot
proteins
pubmed
29593216
uniprot
proteins
pubmed
30420557
uniprot
proteins
sequence_length
1226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17244818, ECO:0000269|PubMed:23085998}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q641K1}. Nucleus {ECO:0000269|PubMed:23085998}. Mitochondrion {ECO:0000250|UniProtKB:Q641K1}. Note=Localizes in both the cytoplasm and nuclei of interphase and dividing cells. {ECO:0000269|PubMed:23085998}.
uniprot
proteins