AGBL5
Cytosolic carboxypeptidase-like protein 5
Also known as: CBPC5_HUMAN, CCP5, FLJ21839
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NDL9
- Gene
- AGBL5
- Ensembl
- ENSG00000084693
- Chromosome
- 2
- Canonical length
- 886 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Microtubules,Cytokinetic bridge,Primary cilium,Centriolar satellite,Basal body,Cytosol
OverviewNCBI 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 carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
886 residues, UniProt reviewed canonical sequence.
>Q8NDL9|AGBL5
1 MELRCGGLLF SSRFDSGNLA HVEKVESLSS DGEGVGGGAS ALTSGIASSP DYEFNVWTRP
61 DCAETEFENG NRSWFYFSVR GGMPGKLIKI NIMNMNKQSK LYSQGMAPFV RTLPTRPRWE
121 RIRDRPTFEM TETQFVLSFV HRFVEGRGAT TFFAFCYPFS YSDCQELLNQ LDQRFPENHP
181 THSSPLDTIY YHRELLCYSL DGLRVDLLTI TSCHGLREDR EPRLEQLFPD TSTPRPFRFA
241 GKRIFFLSSR VHPGETPSSF VFNGFLDFIL RPDDPRAQTL RRLFVFKLIP MLNPDGVVRG
301 HYRTDSRGVN LNRQYLKPDA VLHPAIYGAK AVLLYHHVHS RLNSQSSSEH QPSSCLPPDA
361 PVSDLEKANN LQNEAQCGHS ADRHNAEAWK QTEPAEQKLN SVWIMPQQSA GLEESAPDTI
421 PPKESGVAYY VDLHGHASKR GCFMYGNSFS DESTQVENML YPKLISLNSA HFDFQGCNFS
481 EKNMYARDRR DGQSKEGSGR VAIYKASGII HSYTLECNYN TGRSVNSIPA ACHDNGRASP
541 PPPPAFPSRY TVELFEQVGR AMAIAALDMA ECNPWPRIVL SEHSSLTNLR AWMLKHVRNS
601 RGLSSTLNVG VNKKRGLRTP PKSHNGLPVS CSENTLSRAR SFSTGTSAGG SSSSQQNSPQ
661 MKNSPSFPFH GSRPAGLPGL GSSTQKVTHR VLGPVREPRS QDRRRQQQPL NHRPAGSLAP
721 SPAPTSSGPA SSHKLGSCLL PDSFNIPGSS CSLLSSGDKP EAVMVIGKGL LGTGARMPCI
781 KTRLQARPRL GRGSPPTRRG MKGSSGPTSP TPRTRESSEL ELGSCSATPG LPQARPPRPR
841 SAPAFSPISC SLSDSPSWNC YSRGPLGQPE VCFVPKSPPL TVSPRVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AGBL5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 180 nTPM
Expression across tissuesHPA
Tissue
- testis: 180 nTPM
- parathyroid gland: 47 nTPM
- thyroid gland: 27 nTPM
- epididymis: 25 nTPM
- kidney: 21 nTPM
- salivary gland: 20 nTPM
Single-cell type
- late spermatids: 555 nCPM
- late primary spermatocytes: 405 nCPM
- early spermatids: 284 nCPM
- early primary spermatocytes: 72 nCPM
- cardiomyocytes: 60 nCPM
- undifferentiated spermatogonia: 56 nCPM
Immune cell
- basophil: 8.8 nTPM
- NK-cell: 8.6 nTPM
- memory B-cell: 4.6 nTPM
- memory CD8 T-cell: 4.6 nTPM
- eosinophil: 4.5 nTPM
- memory CD4 T-cell: 4.1 nTPM
Brain region
- hypothalamus: 40 nTPM
- choroid plexus: 37 nTPM
- thalamus: 36 nTPM
- pons: 35 nTPM
- medulla oblongata: 35 nTPM
- amygdala: 34 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AGBL5.
Disease | AllUniProt
Conditions AGBL5 is implicated in, by any mechanism.
- Retinitis pigmentosa 75 (RP75) MIM:617023
Disease | GeneticClinVar
42 pathogenic / likely-pathogenic of 754 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinitis pigmentosa 75
- Retinal dystrophy
- Retinitis pigmentosa
- Autosomal recessive retinitis pigmentosa
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.68
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.29
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- C-terminal protein deglutamylation
- defense response to virus
- protein deglutamylation
- protein side chain deglutamylation
- proteolysis
- protein branching point deglutamylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Peptidase M14, carboxypeptidase A
- Cytosolic carboxypeptidase, N-terminal
- Cytosolic carboxypeptidase
- Zinc carboxypeptidase
- Cytosolic carboxypeptidase N-terminal domain
- Cytosolic carboxypeptidase-like protein 5 catalytic domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AGBL5 as an antibody target. Whether an autoantibody or antibody against AGBL5 could matter depends on whether native AGBL5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AGBL5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AGBL5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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