ENSG00000273540


Homo sapiens

Features
Gene ID: ENSG00000273540
  
Biological name :AGBL1
  
Synonyms : AGBL1 / ATP/GTP binding protein like 1 / Q96MI9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q25.3
Gene start: 86079973
Gene end: 87029052
  
Corresponding Affymetrix probe sets: 1553447_at (Human Genome U133 Plus 2.0 Array)   237687_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000490428
Ensembl peptide - ENSP00000490608
Ensembl peptide - ENSP00000413001
NCBI entrez gene - 123624     See in Manteia.
OMIM - 615496
RefSeq - XM_017021921
RefSeq - XM_011521228
RefSeq - XM_017021918
RefSeq - XM_017021919
RefSeq - XM_017021920
RefSeq - NM_152336
RefSeq - XM_011521226
RefSeq - XM_011521227
RefSeq Peptide - NP_689549
swissprot - A0A1C7CYX3
swissprot - A0A1B0GVQ2
swissprot - Q96MI9
Ensembl - ENSG00000273540
  
Related genetic diseases (OMIM): 615523 - Corneal dystrophy, Fuchs endothelial, 8, 615523
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 AGBL1ENSDARG00000104384Danio rerio
 AGBL1ENSGALG00000006819Gallus gallus
 Agbl1ENSMUSG00000025754Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9UPW5 / AGTPBP1 / ATP/GTP binding protein 1ENSG0000013504945
AGBL2 / Q5U5Z8 / ATP/GTP binding protein like 2ENSG0000016592320
AGBL3 / Q8NEM8 / ATP/GTP binding protein like 3ENSG0000014685619
AGBL4 / Q5VU57 / ATP/GTP binding protein like 4ENSG0000018609414
AGBL5 / Q8NDL9 / ATP/GTP binding protein like 5ENSG0000008469312


Protein motifs (from Interpro)
Interpro ID Name
 IPR000834  Peptidase M14, carboxypeptidase A
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0035609 C-terminal protein deglutamylation ISS
 biological_processGO:0035610 protein side chain deglutamylation ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0004180 carboxypeptidase activity IEA
 molecular_functionGO:0004181 metallocarboxypeptidase activity ISS
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0015631 tubulin binding ISS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Carboxyterminal post-translational modifications of tubulin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001131 Corneal dystrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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