Homo sapiens Protein: AGBL1
Summary
InnateDB Protein IDBP-379793.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AGBL1
Protein Name ATP/GTP binding protein-like 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000413001
InnateDB Gene IDBG-28295 (AGBL1)
Protein Structure
UniProt Annotation
Function Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5 (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm, cytosol {ECO:0000269PubMed:24094747}.
Disease Associations Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269PubMed:24094747}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in corneal endothelium. {ECO:0000269PubMed:24094747}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004181 metallocarboxypeptidase activity
GO:0005488 binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0015631 tubulin binding
Biological Process
GO:0006508 proteolysis
GO:0035609 C-terminal protein deglutamylation
GO:0035610 protein side chain deglutamylation
Cellular Component
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR000834 Peptidase M14, carboxypeptidase A
IPR016024 Armadillo-type fold
PFAM PF00246
PRINTS PR00765
PIRSF
SMART SM00631
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96MI9
PhosphoSite PhosphoSite-Q96MI9
TrEMBL J3KQF5
UniProt Splice Variant
Entrez Gene 123624
UniGene Hs.679833
RefSeq NP_689549
HUGO HGNC:26504
OMIM 615496
CCDS CCDS58398
HPRD 07115
IMGT
EMBL AC012229 AC016180 AC016987 AC018950 AC022817 AC025842 AC069197 AC078905 AC105204 AC107978 AK056872 BC128152
GenPept AAI28153 BAB71299