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Gene : AGBL1 Homo sapiens

Name  ? ATP/GTP binding protein like 1 Cytological Location  15q25.3
Brief Description  ATP/GTP binding protein like 1
Description  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]
  • synonyms:
  • CCP4,
  • FLJ32310,
  • AGBL1,
  • FECD8,
  • cytosolic carboxypeptidase 4,
  • NM_152336,
  • HGNC:26504,
  • AK056872,
  • uc002blz.2,
  • CCP4,
  • OTTHUMG00000149978
  • identifiers:
  • 123624,
  • ENSG00000273540,
  • AGBL1

Genome feature

Region: gene ? Length: 951857  
Location: 15:86079620-87031476 Cyto location: 15q25.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

46 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results