AGBL1

AGBL carboxypeptidase 1, the group of M14 carboxypeptidases|Armadillo like helical domain containing

Basic information

Region (hg38): 15:86079871-87049169

Links

ENSG00000273540

∙ NCBI:123624 ∙ OMIM:615496 ∙ HGNC:26504 ∙ Uniprot:Q96MI9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Fuchs' endothelial dystrophy (Supportive), mode of inheritance: AD
corneal dystrophy, Fuchs endothelial, 8 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Corneal dystrophy, Fuchs endothelial, 8	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Ophthalmologic	24094747

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AGBL1 gene.

not_specified (173 variants)
AGBL1-related_disorder (20 variants)
not_provided (9 variants)
Corneal_dystrophy,_Fuchs_endothelial,_8 (6 variants)
Fuchs'_endothelial_dystrophy (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AGBL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001386094.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				7 clinvar		7
missense			164 clinvar	20 clinvar	5 clinvar	189
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	166	27	5

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. {ECO:0000250|UniProtKB:Q09M05}.;
Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Haploinsufficiency Scores

pHI: 0.0919
hipred: N
hipred_score: 0.219
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.0741

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Agbl1
Phenotype

Gene ontology

Biological process: proteolysis;C-terminal protein deglutamylation;protein side chain deglutamylation
Cellular component: cytosol
Molecular function: metallocarboxypeptidase activity;zinc ion binding;tubulin binding