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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AGBL5
AGBL carboxypeptidase 5
Chromosome 2 · 2p23.3
NCBI Gene: 60509Ensembl: ENSG00000084693.17HGNC: HGNC:26147UniProt: Q8NDL9
33PubMed Papers
21Diseases
0Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitotic spindlecytoplasmmidbodynucleusretinitis pigmentosaRetinal dystrophyinherited retinal dystrophyautosomal recessive retinitis pigmentosa
✦AI Summary

AGBL5 encodes a metallocarboxypeptidase that functions as the primary deglutamylase enzyme (CCP5) regulating tubulin glutamylation homeostasis 1. It catalyzes removal of polyglutamate side chains from α- and β-tubulin C-terminal tails by cleaving branch-point glutamates through substrate deformation-dependent recognition 2. AGBL5 also deglutamylates non-tubulin substrates, including antiviral defense proteins. Proper glutamylation balance is essential for photoreceptor ciliary architecture, intraflagellar transport protein stability, and ciliogenesis initiation 3. Pathogenic AGBL5 variants cause autosomal recessive retinitis pigmentosa (RP75), affecting approximately 1 in 4000 individuals 45. Notably, AGBL5 mutations cause syndromic RP with sensorineural hearing loss, affecting sensory cilia in both retinal and inner ear tissues 6. Loss of AGBL5 function leads to hyperglutamylation, disrupting connecting cilium structure, destabilizing the distal axoneme, and impairing ciliary function 3. Therapeutic approaches show promise: AGBL5 expression restoration or TTLL5 knockdown rescue glutamylation homeostasis and restore ciliogenesis in mutant cells 1, identifying potential treatment targets for AGBL5-associated RP.

Sources cited
1
AGBL5 identified as novel disease candidate for retinal dystrophies through exome sequencing
PMID: 26355662
2
AGBL5 missense mutation associated with autosomal recessive retinitis pigmentosa in Turkish families
PMID: 26720455
3
AGBL5 mutations cause aberrant glutamylation disrupting photoreceptor ciliary architecture and outer segment organization
PMID: 39528655
4
AGBL5 expression or TTLL5 knockdown rescue ciliogenesis and hyperglutamylation phenotype
PMID: 40926193
5
CCP5/AGBL5 recognizes branch glutamates through substrate deformation and substrate-binding mechanism
PMID: 39020174
6
AGBL5 variants cause syndromic retinitis pigmentosa with sensorineural hearing loss
PMID: 39672920
Disease Associationsⓘ21
retinitis pigmentosaOpen Targets
0.76Strong
Retinal dystrophyOpen Targets
0.50Moderate
inherited retinal dystrophyOpen Targets
0.37Weak
autosomal recessive retinitis pigmentosaOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.30Weak
genetic disorderOpen Targets
0.19Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 54Open Targets
0.06Suggestive
spermatogenic failure 20Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 40Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
Retinitis pigmentosa 75UniProt
Pathogenic Variants41
NM_021831.6(AGBL5):c.737_740dup (p.Leu247fs)Pathogenic
not provided
★☆☆☆2025→ Residue 247
NM_021831.6(AGBL5):c.1459C>T (p.Arg487Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 487
NM_021831.6(AGBL5):c.1622dup (p.Pro542fs)Pathogenic
not provided
★☆☆☆2025→ Residue 542
NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)Pathogenic
Retinitis pigmentosa 75|not provided
★☆☆☆2025→ Residue 295
NM_021831.6(AGBL5):c.1250_1251del (p.Pro417fs)Pathogenic
not provided
★☆☆☆2024→ Residue 417
NM_021831.6(AGBL5):c.1255dup (p.Thr419fs)Likely pathogenic
Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 75
★☆☆☆2024→ Residue 419
NM_021831.6(AGBL5):c.658C>T (p.Arg220Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 220
NM_021831.6(AGBL5):c.577C>T (p.Arg193Trp)Likely pathogenic
Retinal dystrophy
★☆☆☆2024→ Residue 193
NM_021831.6(AGBL5):c.1209G>A (p.Trp403Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 403
NM_021831.6(AGBL5):c.1671+1G>TLikely pathogenic
not provided
★☆☆☆2024
NM_021831.6(AGBL5):c.1801C>T (p.Arg601Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 601
NM_021831.6(AGBL5):c.1678C>T (p.Arg560Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 560
NM_021831.6(AGBL5):c.1950dup (p.Ser651Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 651
NM_021831.6(AGBL5):c.1535+1G>ALikely pathogenic
not provided
★☆☆☆2023
NM_021831.6(AGBL5):c.1618C>T (p.Pro540Ser)Likely pathogenic
Retinal dystrophy
★☆☆☆2023→ Residue 540
NM_021831.6(AGBL5):c.175C>T (p.Arg59Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 59
NM_021831.6(AGBL5):c.2242+2T>GLikely pathogenic
not provided
★☆☆☆2023
NM_021831.6(AGBL5):c.388-1G>ALikely pathogenic
not provided
★☆☆☆2023
NM_021831.6(AGBL5):c.1874dup (p.Asn625fs)Pathogenic
not provided
★☆☆☆2022→ Residue 625
NM_021831.6(AGBL5):c.1874+2_1874+5delLikely pathogenic
not provided
★☆☆☆2022
View on ClinVar ↗
Related Genes
AGBL4Shared pathway100%TTLL6Protein interaction70%PGA4Shared pathway50%PGA3Shared pathway50%CAPN14Shared pathway50%CTRB2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
86%
Ovary
77%
Heart
55%
Lung
38%
Liver
34%
Gene Interaction Network
Click a node to explore
AGBL5AGBL4TTLL6PGA4PGA3CAPN14CTRB2
PROTEIN STRUCTURE
Preparing viewer…
PDB8V3M · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.71]
RankingsWhere AGBL5 stands among ~20K protein-coding genes
  • #11,282of 20,598
    Most Researched33
  • #1,525of 5,498
    Most Pathogenic Variants41
  • #5,438of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedAGBL5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 20301590
1.00
2
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
PMID: 26355662
Genet Med · 2016
0.90
3
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
PMID: 26720455
Invest Ophthalmol Vis Sci · 2015
0.80
4
Glutamylation imbalance impairs the molecular architecture of the photoreceptor cilium.
PMID: 39528655
EMBO J · 2024
0.70
5
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5
PMID: 40926193
BMC Mol Cell Biol · 2025
0.60