Aliases for AGBL3 Gene

Aliases for AGBL3 Gene

  • ATP/GTP Binding Protein Like 3 2 3 5
  • CCP3 2 3 4
  • Cytosolic Carboxypeptidase 3 3 4
  • ATP/GTP-Binding Protein-Like 3 4
  • EC 3.4.17.- 4
  • EC 3.4.17 51
  • MGC32955 2
  • AGBL3 5

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 Cataract 11, Multiple Types and Internal Hemorrhoid. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is AGBL2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for AGBL3 Gene

Genomics for AGBL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGBL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGBL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGBL3

Top Transcription factor binding sites by QIAGEN in the AGBL3 gene promoter:
  • AML1a
  • AREB6
  • Evi-1
  • ITF-2
  • LUN-1
  • Pax-2
  • Pax-2b
  • Pax-6
  • Tal-1beta
  • YY1

Genomic Locations for AGBL3 Gene

Genomic Locations for AGBL3 Gene
chr7:134,986,139-135,147,963
(GRCh38/hg38)
Size:
161,825 bases
Orientation:
Plus strand
chr7:134,671,259-134,832,715
(GRCh37/hg19)
Size:
161,457 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:
  • ATP/GTP-binding protein-like 3 (CBPC3_HUMAN)

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:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity IEA,IDA 17244817
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGBL3

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 4
nucleus 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

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

PathCards logo

SuperPathways for AGBL3 Gene

No Data Available

Interacting Proteins for AGBL3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000388275 Q8NEM8-CBPC3_HUMAN for AGBL3 Gene via STRING IID

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,IBA 21873635
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

mRNA/cDNA for AGBL3 Gene

14 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGBL3

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

No ASD Table

Relevant External Links for AGBL3 Gene

GeneLoc Exon Structure for
AGBL3

Expression for AGBL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGBL3

SOURCE GeneReport for Unigene cluster for AGBL3 Gene:

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

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 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AGBL3 30 31
  • 87.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AGBL3 30 31
  • 87.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Agbl3 30
  • 83.24 (n)
Mouse
(Mus musculus)
Mammalia Agbl3 30 17 31
  • 82.79 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AGBL3 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGBL3 30 31
  • 65.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AGBL3 31
  • 67 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta NnaD 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 69 (a)
OneToMany
Species where no ortholog for AGBL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AGBL3: view image

Paralogs for AGBL3 Gene

Paralogs for AGBL3 Gene

(34) SIMAP similar genes for AGBL3 Gene using alignment to 5 proteins:

  • CBPC3_HUMAN
  • C9JL97_HUMAN
  • F8W6Y5_HUMAN
  • F8W7R4_HUMAN
  • J3KQE2_HUMAN
genes like me logo Genes that share paralogs with AGBL3: view

Variants for AGBL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGBL3 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
710268 Benign: not provided 135,045,501(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
711016 Benign: not provided 135,034,203(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
713331 Benign: not provided 134,993,499(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
719392 Likely Benign: not provided 135,032,897(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
769734 Benign: not provided 134,993,522(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AGBL3 Gene

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)

Additional Variant Information for AGBL3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AGBL3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for AGBL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cataract 11, multiple types
  • ctrct11
internal hemorrhoid
  • internal hemorrhoids
smallpox
  • ordinary smallpox
cardiofaciocutaneous syndrome 2
  • cfc2
cardiofaciocutaneous syndrome 3
  • cfc3
- elite association - COSMIC cancer census association via MalaCards
Search AGBL3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AGBL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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 41
  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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for AGBL3 Gene

  • Signalway Proteins for AGBL3

Sources for AGBL3 Gene