Identity
HGNC
LOCATION
9q21.33
LOCUSID
ALIAS
CCP1,CONDCA,NNA1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23287
MIM: 606830
HGNC: 17258
Ensembl: ENSG00000135049
Variants:
dbSNP: 23287
ClinVar: 23287
TCGA: ENSG00000135049
COSMIC: AGTPBP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37937809 | 2024 | Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects. | 4 |
| 37937809 | 2024 | Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects. | 4 |
| 34637898 | 2022 | The AGTPBP1 gene in neurobiology. | 4 |
| 34637898 | 2022 | The AGTPBP1 gene in neurobiology. | 4 |
| 33909173 | 2021 | A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? | 4 |
| 33909173 | 2021 | A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? | 4 |
| 30976113 | 2019 | Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. | 12 |
| 30976113 | 2019 | Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. | 12 |
| 30420557 | 2018 | Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. | 50 |
| 30420557 | 2018 | Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. | 50 |
| 25381060 | 2015 | C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini. | 10 |
| 25381060 | 2015 | C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini. | 10 |
| 23242554 | 2013 | Identification of CRM1-dependent Nuclear Export Cargos Using Quantitative Mass Spectrometry. | 57 |
| 23242554 | 2013 | Identification of CRM1-dependent Nuclear Export Cargos Using Quantitative Mass Spectrometry. | 57 |
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-(atp-gtp-binding-carboxypeptidase-1)
