• Gene id: 123624

Gene Summary

• Gene Symbol: AGBL1   Gene   UCSC   Ensembl
• Aliases: CCP4, FECD8
• Gene name: ATP/GTP binding protein like 1
• Alternate names: cytosolic carboxypeptidase 4,
• Gene location: 15q25.3 (86079619: 87031475)     Exons: 29     NC_000015.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q96MI9  
  • Name: Cytosolic carboxypeptidase 4 (EC 3.4.17. ) (ATP/GTP binding protein like 1)
  • Length: 1112  
  • Mass: 125330
  • Tissue specificity: Expressed in corneal endothelium. {ECO
• Sequence:

  MAEQEASGLQVLLHTLQSSSDKESILTILKVLGDLLSVGTDRRIHYMISKGGSEALLQTLVDTARTAPPDYDILL
  PLFRLLAKVGLRDKKIGRKALELEALDVTLILARKNLSHGQNLLHCLWALRVFASSVSMGAMLGINGAMELLFKV
  ITPYTRKRTQAIRAATEVLAALLKSKSNGRRAVNRGYVTSLLGLHQDWHSHDTANAYVQIRRGLLLCLRHIAALR
  SGREAFLAAQGMEILFSTTQNCLDDKSMEPVISVVLQILRQCYPTSPLPLVTASSAYAFPVPGCITTEPPHDLPE
  EDFEDDGDDEVDKDSDTEDGKVEDDDLETDVNKLSSKPGLDRPEEELMQYEVMCLELSYSFEELQSKLGDDLNSE
  KTQYANHHHIPAAASSKQHCYSKDQSSCGQEREYAVQTSLLCRVKTGRSTVHLGSKKNPGVNLYQNVQSNSLRRD
  SSESEIPDIQASPKADAWDVDAIFCPRMSASFSNSTRTREVVKVIDKLLQTHLKRVPFHDPYLYMAKARRTSSVV
  DFKMMAFPDVWGHCPPPTTQPMLERKCGVQRIRIFEDIRRLIQPSDVINKVVFSLDEPWPLQDNASNCLRFFSKF
  ESGNLRKAIQVREFEYDLLVNADVNSTQHQQWFYFKVSGMQAAIPYHFNIINCEKPNSQFNYGMQPTLYSVKEAL
  LGKPTWIRTGHEICYYKNHYRQSTAVAGGASGKCYYTLTFAVTFPHSEDVCYLAYHYPYTYTALMTHLDILEKSV
  NLKEVYFRQDVLCQTLGGNPCPLVTITAMPESNSDEHLEQFRHRPYQVITARVHPGESNASWVMKGTLEFLVSSD
  PVARLLRENFIFKIIPMLNPDGVINGNHRCSLSGEDLNRQWLSPSAHLQPTIYHAKGLLYHLSSIGRSPVVFCDF
  HGHSQKKNVFLYGCSIKETLWQAACTVGTSTILEEVNYRTLPKILDKLAPAFTMSSCSFLVEKSRASTARVVVWR
  EMGVSRSYTMESSYCGCNQGPYQCTQRLLERTKNERAHPVDGLQGLQFGTRELEEMGAMFCLGLLILELKSASCS
  HQLLAQAATLLSAEEDALDQHLQRLKSSNFLPKHIWFAYHFFAITNFFKMNLLLHVSPVCDT

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR040626  IPR000834  
  • STRING: ENSP00000413001
• Other Databases: GeneCards:  AGBL1  Malacards:  AGBL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004181	metallocarboxypeptidase activity	IBA	molecular function
GO:0035610	protein side chain deglutamylation	IBA	biological process
GO:0035609	C-terminal protein deglutamylation	IBA	biological process
GO:0035608	protein deglutamylation	IBA	biological process
GO:0015631	tubulin binding	ISS	molecular function
GO:0004181	metallocarboxypeptidase activity	ISS	molecular function
GO:0035610	protein side chain deglutamylation	ISS	biological process
GO:0035609	C-terminal protein deglutamylation	ISS	biological process
GO:0004181	metallocarboxypeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004180	carboxypeptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Fuchs corneal dystrophy	KEGG:H00960
Fuchs corneal dystrophy	KEGG:H00960
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq