AGBL5 (AGBL carboxypeptidase 5)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 60509
Gene name AGBL carboxypeptidase 5
Gene symbol AGBL5
Synonyms (NCBI Gene)
CCP5RP75
Chromosome 2
Chromosome location 2p23.3
Summary 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.
3
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.
244
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615900 26147 ENSG00000084693
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
106
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive retinitis pigmentosa Likely pathogenic rs1668413357 RCV001257832
Retinal dystrophy Likely pathogenic rs2465479726, rs1668402514 RCV003890634
RCV001073806
Retinitis pigmentosa Pathogenic rs1285501658 RCV001002861
Retinitis pigmentosa 75 Likely pathogenic; Pathogenic rs1271339736, rs2465472339, rs879253768, rs1668280406, rs1668413357 RCV001542736
RCV003164466
RCV000234931
RCV001269027
RCV004798900
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AGBL5-related disorder Likely benign; Benign; Uncertain significance rs368050370, rs541594007, rs183748586, rs766274421, rs780119171, rs142943047, rs529046053, rs772125178 RCV003965906
RCV003980451
RCV003940930
RCV003924115
RCV003926855
RCV003940590
RCV003933077
RCV003973140
Cervical cancer Benign rs28364811 RCV005914134
Clear cell carcinoma of kidney Benign; Likely benign rs183748586 RCV005914384
Colon adenocarcinoma Benign rs368758886 RCV005868631
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease 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