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Aliases for AGBL3 Gene

Aliases for AGBL3 Gene

  • ATP/GTP Binding Protein Like 3 2 3 5
  • CCP3 3 4
  • ATP/GTP-Binding Protein-Like 3 4
  • Cytosolic Carboxypeptidase 3 3
  • EC 3.4.17.- 4
  • EC 3.4.17 58

External Ids for AGBL3 Gene

Previous GeneCards Identifiers for AGBL3 Gene

  • GC07P134129
  • GC07P134321
  • GC07P134671
  • GC07P128973

Summaries for AGBL3 Gene

GeneCards Summary for AGBL3 Gene

AGBL3 (ATP/GTP Binding Protein Like 3) is a Protein Coding gene. Diseases associated with AGBL3 include Dyskinesia Of Esophagus. GO annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is AGBL2.

UniProtKB/Swiss-Prot for AGBL3 Gene

  • Metallocarboxypeptidase that mediates both deglutamylation and deaspartylation 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 or polyaspartates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin.

  • Isoform 2: Metallocarboxypeptidase that mediates tubulin deglutamylation.

Additional gene information for AGBL3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGBL3 Gene

Genomics for AGBL3 Gene

Regulatory Elements for AGBL3 Gene

Enhancers for AGBL3 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
GH07H135146 1.8 FANTOM5 ENCODE dbSUPER 11.2 +163.0 163043 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A YBX1 YY1 ZNF766 ZNF143 NUP205 TMEM140 C7orf49 AGBL3 WDR91 CNOT4 PIR50393 GC07M135162
GH07H134885 1.5 Ensembl ENCODE dbSUPER 11.1 -100.0 -100005 2 FEZF1 ZNF48 GATA2 FOS SP3 TSHZ1 MAFF GLIS1 MYNN STAT3 AGBL3 CALD1 SLC35B4 C7orf49 PIR46779 GC07M134784
GH07H135163 1.4 ENCODE dbSUPER 11.4 +182.0 181975 9 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 NUP205 ENSG00000273219 ENSG00000231794 WDR91 C7orf49 TMEM140 AGBL3 CNOT4 ENSG00000272941
GH07H135206 1.3 Ensembl ENCODE dbSUPER 10.5 +220.6 220570 1 PKNOX1 BACH1 BMI1 EBF1 BATF EED ATF7 ETV6 RUNX3 IKZF2 ENSG00000231794 WDR91 STRA8 C7orf49 TMEM140 AGBL3 MIR6509
GH07H134931 1.3 Ensembl ENCODE dbSUPER 10.1 -53.5 -53503 2 HDGF NFXL1 YBX1 ATF7 MCM3 SNIP1 ZNF184 SMARCA4 IKZF1 NBN NUP205 CALD1 AGBL3 PIR46779 GC07P134970
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGBL3 on UCSC Golden Path with GeneCards custom track

Promoters for AGBL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218539 392 1801 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 REST SMARCB1

Genomic Location for AGBL3 Gene

Chromosome:
7
Start:
134,986,508 bp from pter
End:
135,147,963 bp from pter
Size:
161,456 bases
Orientation:
Plus strand

Genomic View for AGBL3 Gene

Genes around AGBL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGBL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGBL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGBL3 Gene

Proteins for AGBL3 Gene

  • Protein details for AGBL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEM8-CBPC3_HUMAN
    Recommended name:
    Cytosolic carboxypeptidase 3
    Protein Accession:
    Q8NEM8
    Secondary Accessions:
    • B7Z827
    • Q9H965

    Protein attributes for AGBL3 Gene

    Size:
    1001 amino acids
    Molecular mass:
    116011 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AGBL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGBL3 Gene

Selected DME Specific Peptides for AGBL3 Gene

Q8NEM8:
  • ARVHPGE
  • DAQLLRD
  • KEGTGRVVMW
  • PMLNPDGV

Post-translational modifications for AGBL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AGBL3 Gene

Gene Families for AGBL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AGBL3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AGBL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEM8

UniProtKB/Swiss-Prot:

CBPC3_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with AGBL3: view

Function for AGBL3 Gene

Molecular function for AGBL3 Gene

UniProtKB/Swiss-Prot Function:
Metallocarboxypeptidase that mediates both deglutamylation and deaspartylation 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 or polyaspartates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin.
UniProtKB/Swiss-Prot Function:
Isoform 2: Metallocarboxypeptidase that mediates tubulin deglutamylation.

Enzyme Numbers (IUBMB) for AGBL3 Gene

Phenotypes From GWAS Catalog for AGBL3 Gene

Gene Ontology (GO) - Molecular Function for AGBL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004181 metallocarboxypeptidase activity IEA,IDA 17244817
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with AGBL3: view
genes like me logo Genes that share phenotypes with AGBL3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AGBL3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AGBL3 Gene

Localization for AGBL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGBL3 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGBL3 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Mitochondria (1)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGBL3 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 AGBL3: view

Pathways & Interactions for AGBL3 Gene

SuperPathways for AGBL3 Gene

No Data Available

Interacting Proteins for AGBL3 Gene

Gene Ontology (GO) - Biological Process for AGBL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0035610 protein side chain deglutamylation IEA --
genes like me logo Genes that share ontologies with AGBL3: view

No data available for Pathways by source and SIGNOR curated interactions for AGBL3 Gene

Drugs & Compounds for AGBL3 Gene

No Compound Related Data Available

Transcripts for AGBL3 Gene

Unigene Clusters for AGBL3 Gene

ATP/GTP binding protein-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AGBL3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AGBL3 Gene

No ASD Table

Relevant External Links for AGBL3 Gene

GeneLoc Exon Structure for
AGBL3
ECgene alternative splicing isoforms for
AGBL3

Expression for AGBL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGBL3 Gene

mRNA differential expression in normal tissues according to GTEx for AGBL3 Gene

This gene is overexpressed in Testis (x9.3).

Protein differential expression in normal tissues from HIPED for AGBL3 Gene

This gene is overexpressed in Placenta (23.4), Fetal gut (18.0), and Esophagus (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGBL3 Gene



NURSA nuclear receptor signaling pathways regulating expression of AGBL3 Gene:

AGBL3

SOURCE GeneReport for Unigene cluster for AGBL3 Gene:

Hs.648616
genes like me logo Genes that share expression patterns with AGBL3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGBL3 Gene

Orthologs for AGBL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGBL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGBL3 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia AGBL3 33 34
  • 87.24 (n)
cow
(Bos Taurus)
Mammalia AGBL3 33 34
  • 87.23 (n)
rat
(Rattus norvegicus)
Mammalia Agbl3 33
  • 83.24 (n)
mouse
(Mus musculus)
Mammalia Agbl3 33 16 34
  • 82.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGBL3 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGBL3 33 34
  • 65.01 (n)
lizard
(Anolis carolinensis)
Reptilia AGBL3 34
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta NnaD 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
OneToMany
Species where no ortholog for AGBL3 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AGBL3 Gene

ENSEMBL:
Gene Tree for AGBL3 (if available)
TreeFam:
Gene Tree for AGBL3 (if available)

Paralogs for AGBL3 Gene

Variants for AGBL3 Gene

Sequence variations from dbSNP and Humsavar for AGBL3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000002142 -- 135,061,961(+) TAGAT(C/T)ACTTT intron-variant
rs1000021723 -- 135,131,449(+) AAAGG(-/A)AACAA intron-variant
rs1000055145 -- 134,984,911(+) TAATC(C/T)CAGTA upstream-variant-2KB
rs1000059457 -- 135,007,287(+) TTCAT(C/T)AGCAA intron-variant
rs1000075846 -- 135,074,707(+) TTCCA(A/G)GTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGBL3 Gene

Variant ID Type Subtype PubMed ID
esv2662841 CNV deletion 23128226
esv2676287 CNV deletion 23128226
esv2735185 CNV deletion 23290073
esv3615109 CNV loss 21293372
esv3615111 CNV loss 21293372
esv3891208 CNV loss 25118596
nsv523222 CNV gain 19592680
nsv527174 CNV loss 19592680
nsv608458 CNV loss 21841781
nsv970581 CNV duplication 23825009

Variation tolerance for AGBL3 Gene

Gene Damage Index Score: 5.91; 74.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGBL3 Gene

Human Gene Mutation Database (HGMD)
AGBL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGBL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGBL3 Gene

Disorders for AGBL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AGBL3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
dyskinesia of esophagus
  • dyskinesia of oesophagus
- elite association - COSMIC cancer census association via MalaCards
Search AGBL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AGBL3

Genetic Association Database (GAD)
AGBL3
Human Genome Epidemiology (HuGE) Navigator
AGBL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGBL3
genes like me logo Genes that share disorders with AGBL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGBL3 Gene

Publications for AGBL3 Gene

  1. The cytosolic carboxypeptidases CCP2 and CCP3 catalyze posttranslational removal of acidic amino acids. (PMID: 25103237) Tort O … Janke C (Molecular biology of the cell 2014) 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Nna1-like proteins are active metallocarboxypeptidases of a new and diverse M14 subfamily. (PMID: 17244817) Rodriguez de la Vega M … Avilés FX (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for AGBL3 Gene

Sources for AGBL3 Gene

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