AGTPBP1 (ATP/GTP binding carboxypeptidase 1)

2014-11-01  

Identity

HGNC
LOCATION
9q21.33
LOCUSID
ALIAS
CCP1,CONDCA,NNA1
FUSION GENES

Other Information

Locus ID:

NCBI: 23287
MIM: 606830
HGNC: 17258
Ensembl: ENSG00000135049

Variants:

dbSNP: 23287
ClinVar: 23287
TCGA: ENSG00000135049
COSMIC: AGTPBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135049ENST00000337006J3KNS1
ENSG00000135049ENST00000357081Q9UPW5
ENSG00000135049ENST00000376083Q9UPW5
ENSG00000135049ENST00000376083A0A024R288
ENSG00000135049ENST00000628899Q9UPW5

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232425542013Identification of CRM1-dependent Nuclear Export Cargos Using Quantitative Mass Spectrometry.37
304205572018Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.9
253810602015C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini.5
309761132019Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.0

Citation

Dessen P

AGTPBP1 (ATP/GTP binding carboxypeptidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60209/agtpbp1