AGBL5 (AGBL carboxypeptidase 5)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60509
Gene name Gene Name - the full gene name approved by the HGNC.
AGBL carboxypeptidase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGBL5
Synonyms (NCBI Gene) Gene synonyms aliases
CCP5, RP75
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs879253768 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs879253769 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1285501658 AT>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(244)
miRTarBase ID miRNA Experiments Reference
MIRT694514 hsa-miR-501-3p HITS-CLIP 23313552
MIRT694513 hsa-miR-502-3p HITS-CLIP 23313552
MIRT694512 hsa-miR-5690 HITS-CLIP 23313552
MIRT694511 hsa-miR-6804-3p HITS-CLIP 23313552
MIRT694510 hsa-miR-1287-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity IBA
GO:0004181 Function Metallocarboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity ISS
GO:0005634 Component Nucleus IDA 23085998
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615900 26147 ENSG00000084693
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8NDL9
Protein name Cytosolic carboxypeptidase-like protein 5 (EC 3.4.17.-) (EC 3.4.17.24) (ATP/GTP-binding protein-like 5) (Protein deglutamylase CCP5)
Protein function Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- a
PDB 8V3M , 8V3N , 8V3O , 8V3P , 8V3Q , 8V3R , 8V3S , 8V4K , 8V4L , 8V4M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18027 Pepdidase_M14_N 10 → 155 Cytosolic carboxypeptidase N-terminal domain Domain
PF00246 Peptidase_M14 196 → 521 Zinc carboxypeptidase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain.
Sequence 
MELRCGGLLFSSRFDSGNLAHVEKVESLSSDGEGVGGGASALTSGIASSPDYEFNVWTRP
DCAETEFENGNRSWFYFSVRGGMPGKLIKINIMNMNKQSKLYSQGMAPFVRTLPTRPRWE
RIRDRPTFEMTETQFVLSFVHRFVEGRGATTFFAFCYPFSYSDCQELLNQLDQRFPENHP
THSSPLDTIYYHRELLCYSLDGLRVDLLTITSCHGLREDREPRLEQLFPDTSTPRPFRFA
GKRIFFLSSRVHPGETPSSFVFNGFLDFILRPDDPRAQTLRRLFVFKLIPMLNPDGVVRG
HYRTDSRGVNLNRQYLKPDAVLHPAIYGAKAVLLYHHVHSRLNSQSSSEHQPSSCLPPDA
PVSDLEKANNLQNEAQCGHSADRHNAEAWKQTEPAEQKLNSVWIMPQQSAGLEESAPDTI
PPKESGVAYYVDLHGHASKRGCFMYGNSFSDESTQVENMLYPKLISLNSAHFDFQGCNFS
EKNMYARDRRDGQSKEGSGRVAIYKASGIIHSYTLECNYNTGRSVNSIPAACHDNGRASP
PPPPAFPSRYTVELFEQVGRAMAIAALDMAECNPWPRIVLSEHSSLTNLRAWMLKHVRNS
RGLSSTLNVGVNKKRGLRTPPKSHNGLPVSCSENTLSRARSFSTGTSAGGSSSSQQNSPQ
MKNSPSFPFHGSRPAGLPGLGSSTQKVTHRVLGPVREPRSQDRRRQQQPLNHRPAGSLAP
SPAPTSSGPASSHKLGSCLLPDSFNIPGSSCSLLSSGDKPEAVMVIGKGLLGTGARMPCI
KTRLQARPRLGRGSPPTRRGMKGSSGPTSPTPRTRESSELELGSCSATPGLPQARPPRPR
SAPAFSPISCSLSDSPSWNCYSRGPLGQPEVCFVPKSPPLTVSPRV
Sequence length 886
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
retinal dystrophy Retinal dystrophy rs1668402514 N/A
Retinitis Pigmentosa retinitis pigmentosa 75, retinitis pigmentosa rs879253768, rs1285501658 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Type 2 Associate 28812028
Hearing Loss Associate 39672920
Hearing Loss Sensorineural Associate 39672920
Retinal Diseases Associate 39672920
Retinal Dystrophies Associate 26355662
Retinitis Pigmentosa Associate 27764769, 30925032, 39672920
RHYNS syndrome Associate 39672920
Usher Syndromes Associate 39672920