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Gene : AGBL5 Homo sapiens

Name  ? ATP/GTP binding protein like 5 Cytological Location  2p23.3
Brief Description  ATP/GTP binding protein like 5
Description  This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
  • synonyms:
  • OTTHUMG00000128406,
  • uc002rie.4,
  • AGBL5,
  • RP75,
  • BC007415,
  • cytosolic carboxypeptidase 5,
  • NM_021831,
  • CCP5,
  • CCP5,
  • FLJ21839,
  • HGNC:26147
  • identifiers:
  • 60509,
  • ENSG00000084693,
  • AGBL5

Genome feature

Region: gene ? Length: 19200  
Location: 2:27051423-27070622 Cyto location: 2p23.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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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Interactions

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Expression

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

Gene Ontology

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Other

162 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results