InnateDB Protein
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IDBP-379793.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AGBL1
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Protein Name
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ATP/GTP binding protein-like 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000413001
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InnateDB Gene
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IDBG-28295 (AGBL1)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000269PubMed:24094747}.
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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.
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Tissue Specificity |
Expressed in corneal endothelium. {ECO:0000269PubMed:24094747}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000834
Peptidase M14, carboxypeptidase A
IPR016024
Armadillo-type fold
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PFAM |
PF00246
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PRINTS |
PR00765
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PIRSF |
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SMART |
SM00631
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TIGRFAMs |
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Modification |
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SwissProt |
Q96MI9
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PhosphoSite |
PhosphoSite-Q96MI9
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TrEMBL |
J3KQF5
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UniProt Splice Variant |
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Entrez Gene |
123624
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UniGene |
Hs.679833
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RefSeq |
NP_689549
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HUGO |
HGNC:26504
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OMIM |
615496
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CCDS |
CCDS58398
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HPRD |
07115
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IMGT |
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EMBL |
AC012229
AC016180
AC016987
AC018950
AC022817
AC025842
AC069197
AC078905
AC105204
AC107978
AK056872
BC128152
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GenPept |
AAI28153
BAB71299
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