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Aliases for AGBL1 Gene

Aliases for AGBL1 Gene

  • ATP/GTP Binding Protein Like 1 2 3 5
  • Cytosolic Carboxypeptidase 4 2 3
  • CCP4 3 4
  • ATP/GTP-Binding Protein-Like 1 4
  • EC 3.4.17.- 4
  • EC 3.4.17 61
  • FECD8 3

External Ids for AGBL1 Gene

Previous GeneCards Identifiers for AGBL1 Gene

  • GC00U921509
  • GC15P084601
  • GC15P084486
  • GC15P086685
  • GC15P062798

Summaries for AGBL1 Gene

Entrez Gene Summary for AGBL1 Gene

  • Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]

GeneCards Summary for AGBL1 Gene

AGBL1 (ATP/GTP Binding Protein Like 1) is a Protein Coding gene. Diseases associated with AGBL1 include Corneal Dystrophy, Fuchs Endothelial, 8 and Fuchs' Endothelial Dystrophy. GO annotations related to this gene include binding and metallocarboxypeptidase activity. An important paralog of this gene is ENSG00000273540.

UniProtKB/Swiss-Prot for AGBL1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGBL1 Gene

Genomics for AGBL1 Gene

Regulatory Elements for AGBL1 Gene

Enhancers for AGBL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F086062 0.3 FANTOM5 17.9 -17.2 -17241 0.3 AGBL1 KLHL25 ENSG00000259608
GH15F086160 1 ENCODE 11.6 +83.5 83478 5.3 ZNF146 ZFP37 SIN3A ZEB2 RAD21 HIC1 ZNF316 JUND GLIS1 FOS RNA5SP400 AGBL1 GC15M086174 ENSG00000261077
GH15F086159 0.2 ENCODE 11.1 +79.8 79818 0.2 JUND RNA5SP400 AGBL1 GC15M086174 ENSG00000261077
GH15F086003 0.7 FANTOM5 4.9 -75.8 -75839 0.3 RAD51 AGBL1 ENSG00000259608
GH15F086079 0.7 ENCODE 0.8 +0.2 154 1.0 CTCF ZIC2 EGR2 AGBL1 ENSG00000273540
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AGBL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AGBL1 Gene

Chromosome:
15
Start:
86,079,787 bp from pter
End:
87,031,178 bp from pter
Size:
951,392 bases
Orientation:
Plus strand

Genomic View for AGBL1 Gene

Genes around AGBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGBL1 Gene

Proteins for AGBL1 Gene

  • Protein details for AGBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MI9-CBPC4_HUMAN
    Recommended name:
    Cytosolic carboxypeptidase 4
    Protein Accession:
    Q96MI9
    Secondary Accessions:
    • A1A4X5
    • A6NJH6
    • C9JHL5

    Protein attributes for AGBL1 Gene

    Size:
    1066 amino acids
    Molecular mass:
    120281 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with MYLK (By similarity). Interacts with TCF4.

    Alternative splice isoforms for AGBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGBL1 Gene

Selected DME Specific Peptides for AGBL1 Gene

Post-translational modifications for AGBL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AGBL1 Gene

Protein Domains for AGBL1 Gene

Suggested Antigen Peptide Sequences for AGBL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MI9

UniProtKB/Swiss-Prot:

CBPC4_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with AGBL1: view

No data available for Gene Families for AGBL1 Gene

Function for AGBL1 Gene

Molecular function for AGBL1 Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for AGBL1 Gene

Gene Ontology (GO) - Molecular Function for AGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004181 metallocarboxypeptidase activity ISS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0015631 tubulin binding ISS --
genes like me logo Genes that share ontologies with AGBL1: view
genes like me logo Genes that share phenotypes with AGBL1: view

Human Phenotype Ontology for AGBL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AGBL1 Gene

Localization for AGBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGBL1 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGBL1 Gene COMPARTMENTS Subcellular localization image for AGBL1 gene
Compartment Confidence
cytosol 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for AGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with AGBL1: view

Pathways & Interactions for AGBL1 Gene

SuperPathways for AGBL1 Gene

No Data Available

Interacting Proteins for AGBL1 Gene

Gene Ontology (GO) - Biological Process for AGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0035609 C-terminal protein deglutamylation ISS --
GO:0035610 protein side chain deglutamylation ISS --
genes like me logo Genes that share ontologies with AGBL1: view

No data available for Pathways by source and SIGNOR curated interactions for AGBL1 Gene

Transcripts for AGBL1 Gene

mRNA/cDNA for AGBL1 Gene

(9) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AGBL1 Gene

ATP/GTP binding protein-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AGBL1 Gene

No ASD Table

Relevant External Links for AGBL1 Gene

GeneLoc Exon Structure for
AGBL1
ECgene alternative splicing isoforms for
AGBL1

Expression for AGBL1 Gene

mRNA expression in normal human tissues for AGBL1 Gene

mRNA differential expression in normal tissues according to GTEx for AGBL1 Gene

This gene is overexpressed in Muscle - Skeletal (x33.9).

Protein differential expression in normal tissues from HIPED for AGBL1 Gene

This gene is overexpressed in Islet of Langerhans (22.3), Ovary (14.8), Heart (12.9), and Adipocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGBL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AGBL1 Gene:

AGBL1

SOURCE GeneReport for Unigene cluster for AGBL1 Gene:

Hs.679833

mRNA Expression by UniProt/SwissProt for AGBL1 Gene:

Q96MI9-CBPC4_HUMAN
Tissue specificity: Expressed in corneal endothelium.
genes like me logo Genes that share expression patterns with AGBL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for AGBL1 Gene

Orthologs for AGBL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGBL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGBL1 34 35
  • 98.81 (n)
dog
(Canis familiaris)
Mammalia AGBL1 34 35
  • 85.96 (n)
rat
(Rattus norvegicus)
Mammalia Agbl1 34
  • 82.2 (n)
cow
(Bos Taurus)
Mammalia LOC100300175 34
  • 81.68 (n)
mouse
(Mus musculus)
Mammalia Agbl1 34 16 35
  • 81.2 (n)
oppossum
(Monodelphis domestica)
Mammalia AGBL1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGBL1 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGBL1 34 35
  • 65.15 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 29 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia agbl1 34
  • 61.34 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536841 34
  • 58.3 (n)
worm
(Caenorhabditis elegans)
Secernentea ccpp-1 35
  • 26 (a)
OneToMany
Species where no ortholog for AGBL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGBL1 Gene

ENSEMBL:
Gene Tree for AGBL1 (if available)
TreeFam:
Gene Tree for AGBL1 (if available)

Paralogs for AGBL1 Gene

Paralogs for AGBL1 Gene

(3) SIMAP similar genes for AGBL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AGBL1: view

Variants for AGBL1 Gene

Sequence variations from dbSNP and Humsavar for AGBL1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs181958589 Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523], Pathogenic 86,674,322(+) GTTCT(C/G)TTTGG reference, missense
rs185919705 Pathogenic 86,674,435(+) TCCAA(C/T)GGTAA reference, missense, stop-gained
rs1000617 -- 86,983,856(-) aacaa(C/T)atgga intron-variant
rs10048005 -- 86,177,198(+) gccag(G/T)tataa intron-variant
rs1006030 -- 86,988,050(-) AAGTT(G/T)GTAAT intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for AGBL1 Gene

Variant ID Type Subtype PubMed ID
dgv466e199 CNV deletion 23128226
dgv755e212 CNV loss 25503493
esv1001469 CNV insertion 20482838
esv1007298 CNV deletion 20482838
esv1137649 CNV insertion 17803354
esv2537097 CNV deletion 19546169
esv2664946 CNV deletion 23128226
esv2664960 CNV deletion 23128226
esv2674599 CNV deletion 23128226
esv2675845 CNV deletion 23128226
esv2749980 CNV deletion 23290073
esv2749981 CNV deletion 23290073
esv2749982 CNV deletion 23290073
esv2749983 CNV deletion 23290073
esv2760052 CNV loss 17122850
esv2761881 CNV loss 21179565
esv3552802 CNV deletion 23714750
esv3552803 CNV deletion 23714750
esv3552804 CNV deletion 23714750
esv3581802 CNV loss 25503493
esv3637135 CNV loss 21293372
esv3637136 CNV loss 21293372
esv3637137 CNV loss 21293372
esv3637140 CNV loss 21293372
esv3637141 CNV loss 21293372
esv3637142 CNV loss 21293372
esv3637143 CNV loss 21293372
esv3637144 CNV loss 21293372
esv3637146 CNV loss 21293372
esv3637147 CNV loss 21293372
nsv1039254 CNV loss 25217958
nsv1041107 CNV loss 25217958
nsv1048118 CNV gain 25217958
nsv1048250 CNV gain 25217958
nsv1048366 CNV loss 25217958
nsv1070293 CNV deletion 25765185
nsv1071231 CNV deletion 25765185
nsv1071232 CNV deletion 25765185
nsv1116095 CNV deletion 24896259
nsv1127450 CNV deletion 24896259
nsv1138394 CNV deletion 24896259
nsv1144743 CNV deletion 24896259
nsv457231 CNV loss 19166990
nsv479459 CNV novel sequence insertion 20440878
nsv507794 OTHER sequence alteration 20534489
nsv516208 CNV loss 19592680
nsv519797 CNV gain 19592680
nsv520512 CNV loss 19592680
nsv524278 CNV gain 19592680
nsv526937 CNV loss 19592680
nsv528422 CNV loss 19592680
nsv570357 CNV loss 21841781
nsv570358 CNV gain 21841781
nsv833080 CNV gain 17160897
nsv833082 CNV loss 17160897
nsv833083 CNV gain 17160897
nsv958011 CNV deletion 24416366
nsv958025 CNV deletion 24416366

Variation tolerance for AGBL1 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGBL1 Gene

Human Gene Mutation Database (HGMD)
AGBL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGBL1 Gene

Disorders for AGBL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AGBL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, fuchs endothelial, 8
  • corneal dystrophy, fuchs endothelial 8
fuchs' endothelial dystrophy
  • fced
corneal dystrophy
corneal disease
  • corneal diseases
- elite association - COSMIC cancer census association via MalaCards
Search AGBL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CBPC4_HUMAN
  • Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269 PubMed:24094747}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGBL1

Genetic Association Database (GAD)
AGBL1
Human Genome Epidemiology (HuGE) Navigator
AGBL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGBL1
genes like me logo Genes that share disorders with AGBL1: view

No data available for Genatlas for AGBL1 Gene

Publications for AGBL1 Gene

  1. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. (PMID: 24094747) Riazuddin S.A. … Gottsch J.D. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PMID: 21993531) Kuparinen T. … Hurme M. (Genes Immun. 2012) 3 46 64
  3. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark S.L. … van den Oord E.J. (Psychol Med 2012) 3 46 64
  4. Meta-analysis of genome-wide association for migraine in six population-based European cohorts. (PMID: 21448238) Ligthart L. … Boomsma D.I. (Eur. J. Hum. Genet. 2011) 3 46 64
  5. A family of protein-deglutamylating enzymes associated with neurodegeneration. (PMID: 21074048) Rogowski K. … Janke C. (Cell 2010) 2 3 64

Products for AGBL1 Gene

Sources for AGBL1 Gene

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