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Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
AGBL1 (ATP/GTP Binding Protein Like 1) is a Protein Coding gene. Diseases associated with AGBL1 include Corneal Dystrophy, Fuchs Endothelial, 8 and Fuchs' Endothelial Dystrophy. Gene Ontology (GO) annotations related to this gene include binding and metallocarboxypeptidase activity. An important paralog of this gene is AGTPBP1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH15J086079 | Enhancer | 0.7 | Ensembl ENCODE dbSUPER | 750.6 | +0.0 | 13 | 1.6 | ZIC2 ZNF143 | AGBL1 NONHSAG017772.2 LINC01584 | |
GH15J086160 | Enhancer | 0.8 | Ensembl ENCODE | 11.6 | +83.7 | 83714 | 6.2 | FOSL2 POLR2A TCF7L2 ZEB2 ZNF629 KLF8 HIC1 FOS JUND GLIS1 | RNA5SP400 AGBL1 ENSG00000200206 ENSG00000261077 lnc-KLHL25-15 | |
GH15J086062 | Enhancer | 0.4 | FANTOM5 dbSUPER | 17.9 | -17.2 | -17240 | 0.3 | AGBL1 KLHL25 NONHSAG017772.2 HSALNG0107896 | ||
GH15J086201 | Enhancer | 0.3 | Ensembl | 10.9 | +122.1 | 122114 | 0.6 | MAFK JUND | RNA5SP400 AGBL1 piR-55948-036 ENSG00000200206 | |
GH15J086159 | Enhancer | 0.3 | ENCODE | 11.1 | +79.8 | 79818 | 0.2 | JUND | RNA5SP400 AGBL1 ENSG00000200206 ENSG00000261077 lnc-KLHL25-15 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004181 | metallocarboxypeptidase activity | ISS | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0015631 | tubulin binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0035609 | C-terminal protein deglutamylation | ISS | -- |
GO:0035610 | protein side chain deglutamylation | ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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chimpanzee (Pan troglodytes) |
Mammalia | AGBL1 32 |
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dog (Canis familiaris) |
Mammalia | AGBL1 32 |
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rat (Rattus norvegicus) |
Mammalia | Agbl1 32 |
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cow (Bos Taurus) |
Mammalia | LOC100300175 32 |
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mouse (Mus musculus) |
Mammalia | Agbl1 17 32 |
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chicken (Gallus gallus) |
Aves | AGBL1 32 |
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tropical clawed frog (Silurana tropicalis) |
Amphibia | agbl1 32 |
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zebrafish (Danio rerio) |
Actinopterygii | LOC100536841 32 |
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SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs181958589 | pathogenic, Corneal dystrophy, Fuchs endothelial, 8, Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523] | 86,674,322(+) | G/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs185919705 | pathogenic, Corneal dystrophy, Fuchs endothelial, 8 | 86,674,435(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained | |
rs1000003145 | -- | 86,182,702(+) | G/A | intron_variant | |
rs1000004947 | -- | 86,814,110(+) | A/G | genic_downstream_transcript_variant, intron_variant | |
rs1000005076 | -- | 86,104,298(+) | G/A | intron_variant |
Disorder | Aliases | PubMed IDs |
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corneal dystrophy, fuchs endothelial, 8 |
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fuchs' endothelial dystrophy |
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corneal dystrophy |
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corneal disease |
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ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant |
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