cytosolic carboxypeptidase 1 isoform X1 [Homo sapiens]

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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? [Neurogenetics. 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?
Türay S, Eröz R, Başak AN. Neurogenetics. 2021 May; 22(2):127-132. Epub 2021 Apr 28.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. [Eur J Hum Genet. 2019]
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, et al. Eur J Hum Genet. 2019 Sep; 27(9):1419-1426. Epub 2019 Apr 11.
C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini. [Mol Cell Proteomics. 2015]
C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini.
Tanco S, Tort O, Demol H, Aviles FX, Gevaert K, Van Damme P, Lorenzo J. Mol Cell Proteomics. 2015 Jan; 14(1):177-90. Epub 2014 Nov 7.

RefSeq mRNA
See reference mRNA sequence for the AGTPBP1 gene (XM_054362523.1).
RefSeq protein isoforms
See 45 reference sequence protein isoforms for the AGTPBP1 gene.

ow48d03.x1 Soares_parathyroid_tumor_NbHPA Homo sapiens cDNA clone IMAGE:1650053 ...
ow48d03.x1 Soares_parathyroid_tumor_NbHPA Homo sapiens cDNA clone IMAGE:1650053 3', mRNA sequence
gi|3249771|gnl|dbEST|1770810|gb|AI0 .1|

Nucleotide
Eosinophilic gallbladder infiltration
Eosinophilic gallbladder infiltration

MedGen
Ileocecal ulcer
Ileocecal ulcer

MedGen
Abnormal stool composition
Abnormal stool composition

MedGen

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Protein