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Aliases for AGBL1 Gene

Aliases for AGBL1 Gene

  • ATP/GTP Binding Protein-Like 1 2 3
  • CCP4 3 4 6
  • Cytosolic Carboxypeptidase 4 2 3
  • FECD8 3 6
  • ATP/GTP-Binding Protein-Like 1 4
  • EC 3.4.17.- 4
  • EC 3.4.17 63

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 tubulin binding and metallocarboxypeptidase activity. An important paralog of this gene is AGBL2.

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

Genomic Location for AGBL1 Gene

Start:
86,141,996 bp from pter
End:
87,029,052 bp from pter
Size:
887,057 bases
Orientation:
Plus strand

Genomic View for AGBL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Interacts with MYLK (By similarity). Interacts with TCF4.

    Alternative splice isoforms for AGBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGBL1 Gene

Proteomics data for AGBL1 Gene at MOPED

Selected DME Specific Peptides for AGBL1 Gene

Post-translational modifications for AGBL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGBL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains 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 :
  • Q96MI9
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:0005488 binding --
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
GO:0015631 tubulin binding ISS --
genes like me logo Genes that share ontologies with AGBL1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AGBL1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for AGBL1 Gene

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

Pathways 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 for AGBL1 Gene

Transcripts for AGBL1 Gene

mRNA/cDNA for AGBL1 Gene

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

Unigene Clusters for AGBL1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AGBL1

Primer 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 (33.9).

Protein differential expression in normal tissues 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 from ProteomicsDB and MOPED for AGBL1 Gene

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 expressions with AGBL1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia LOC100300175 35
  • 81.68 (n)
  • 79.47 (a)
dog
(Canis familiaris)
Mammalia AGBL1 35
  • 85.96 (n)
  • 83.12 (a)
AGBL1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agbl1 35
  • 81.2 (n)
  • 78.39 (a)
Agbl1 16
Agbl1 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AGBL1 35
  • 98.81 (n)
  • 98.12 (a)
AGBL1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agbl1 35
  • 82.2 (n)
  • 78.29 (a)
oppossum
(Monodelphis domestica)
Mammalia AGBL1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGBL1 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGBL1 35
  • 65.15 (n)
  • 62.18 (a)
AGBL1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 29 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia agbl1 35
  • 61.34 (n)
  • 58.04 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100536841 35
  • 58.3 (n)
  • 54.96 (a)
worm
(Caenorhabditis elegans)
Secernentea ccpp-1 36
  • 26 (a)
OneToMany
Species with no ortholog for AGBL1:
  • 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

Selected 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 MAF
rs17143 -- 86,252,486(-) TCCTC(G/T)ATCAC intron-variant
rs715922 -- 86,462,039(-) ACTCA(G/T)AGTTT intron-variant
rs717325 -- 87,014,276(-) TTTTG(C/T)GTTAG intron-variant
rs717552 -- 86,539,891(+) TCTCT(C/T)ATGGT intron-variant
rs717553 -- 86,539,636(+) CTACC(C/T)TCTTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv519797 CNV Gain 19592680
nsv833080 CNV Gain 17160897
nsv904467 CNV Loss 21882294
dgv466e199 CNV Deletion 23128226
nsv520512 CNV Loss 19592680
nsv457231 CNV Loss 19166990
nsv833082 CNV Loss 17160897
esv2675845 CNV Deletion 23128226
dgv774e1 CNV Complex 17122850
esv2749980 CNV Deletion 23290073
esv2749981 CNV Deletion 23290073
esv2749982 CNV Deletion 23290073
esv992414 CNV Deletion 20482838
esv1001469 CNV Insertion 20482838
nsv833083 CNV Gain 17160897
esv2674599 CNV Deletion 23128226
nsv526937 CNV Loss 19592680
nsv528422 CNV Loss 19592680
nsv524278 CNV Gain 19592680
nsv507794 CNV Insertion 20534489
esv2749983 CNV Deletion 23290073
dgv2432n71 CNV Loss 21882294
nsv516208 CNV Loss 19592680
esv2537097 CNV Deletion 19546169
esv1007298 CNV Deletion 20482838
esv2664960 CNV Deletion 23128226
esv1137649 CNV Insertion 17803354
esv2664946 CNV Deletion 23128226

Relevant External Links for AGBL1 Gene

HapMap Linkage Disequilibrium report
AGBL1
Human Gene Mutation Database (HGMD)
AGBL1

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

Disorders for AGBL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for AGBL1 Gene in MalaCards »

(2) Diseases for AGBL1 Gene including...

(1) OMIM Diseases for AGBL1 Gene (615496)

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

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and 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
  2. Genomewide association for schizophrenia in the CATIE study: results of stage 1. (PMID: 18347602) Sullivan P.F. … Close S.L. (Mol. Psychiatry 2008) 3 48
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. A family of protein-deglutamylating enzymes associated with neurodegeneration. (PMID: 21074048) Rogowski K. … Janke C. (Cell 2010) 2 3
  5. 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 48

Products for AGBL1 Gene

Sources for AGBL1 Gene

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