Aliases for AGBL1 Gene
Aliases for AGBL1 Gene
External Ids for AGBL1 Gene
- HGNC: 26504
- Entrez Gene: 123624
- Ensembl: ENSG00000273540
- OMIM: 615496
- UniProtKB: Q96MI9
Previous GeneCards Identifiers for AGBL1 Gene
- GC00U921509
- GC15P084601
- GC15P084486
- GC15P086685
- GC15P062798
Summaries 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. Gene Ontology (GO) annotations related to this gene include binding and metallocarboxypeptidase activity. An important paralog of this gene is AGTPBP1.
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.
Additional gene information for AGBL1 Gene
- Monarch Initiative
- Search for AGBL1 at DataMed
- Search for AGBL1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGBL1 Gene
Genomics for AGBL1 Gene
GeneHancer (GH) Regulatory Elements for AGBL1 Gene
Promoters and enhancers for AGBL1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH15I086079 | Enhancer | 0.6 | ENCODE dbSUPER | 550.8 | +0.2 | 153 | 1 | CTCF ZIC2 EGR2 | AGBL1 GC15M086072 GC15M086073 LINC01584 | |
| GH15I086160 | Enhancer | 0.7 | ENCODE | 11.6 | +83.5 | 83478 | 5.3 | ZBTB21 ZNF189 ZFP37 ZEB2 HIC1 JUND POLR2A GLIS1 ZNF629 FOS | RNA5SP400 AGBL1 GC15M086174 ENSG00000261077 | |
| GH15I086062 | Enhancer | 0.4 | FANTOM5 dbSUPER | 17.9 | -17.2 | -17240 | 0.3 | AGBL1 KLHL25 ENSG00000259608 | ||
| GH15I086159 | Enhancer | 0.3 | ENCODE | 11.1 | +79.8 | 79818 | 0.2 | JUND | RNA5SP400 AGBL1 GC15M086174 ENSG00000261077 | |
| GH15I086003 | Enhancer | 0.3 | FANTOM5 | 4.9 | -75.8 | -75839 | 0.3 | RAD51 | AGBL1 ENSG00000259608 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AGBL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for AGBL1 Gene
Genomic Locations for AGBL1 Gene
- chr15:86,079,787-87,031,178
- (GRCh38/hg38)
- Size:
- 951,392 bases
- Orientation:
- Plus strand
- chr15:86,685,227-87,572,283
- (GRCh37/hg19)
Genomic View for AGBL1 Gene
Genes around AGBL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q25.3 by Ensembl
- 15q25.3 by Entrez Gene
- 15q25.3 by HGNC
AGBL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for AGBL1 Gene
Selected DME Specific Peptides for AGBL1 Gene
- Q96MI9:
-
- ICYYKNH
- ARVHPGE
- PMLNPDGV
- FNIINCEK
- CDFHGHS
- YGCSIKET
Post-translational modifications for AGBL1 Gene
Other Protein References for AGBL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Domains & Families for AGBL1 Gene
Gene Families for AGBL1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for AGBL1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AGBL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96MI9- Family:
-
- Belongs to the peptidase M14 family.
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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for AGBL1 Gene
- MGI mutant phenotypes for AGBL1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AGBL1:
Animal Model Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available AGBL1 gene related products
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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.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| nucleus | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGBL1 Gene
Pathways & Interactions for AGBL1 Gene
No Data Available
Interacting Proteins 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 | -- |
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:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AGBL1 Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGBL1
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for AGBL1
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available AGBL1 gene related products
- orf clones - Search results for available AGBL1 gene related products
- Applied Biological Materials Clones for AGBL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for AGBL1 Gene
mRNA differential expression in normal tissues according to GTEx for AGBL1 Gene
This gene is overexpressed in Muscle - Skeletal (x33.9).
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, PaxDb, and MOPED for AGBL1 Gene
NURSA nuclear receptor signaling pathways regulating expression of AGBL1 Gene:
AGBL1SOURCE GeneReport for Unigene cluster for AGBL1 Gene:
Hs.679833mRNA Expression by UniProt/SwissProt for AGBL1 Gene:
Q96MI9-CBPC4_HUMAN
Tissue specificity:
Expressed in corneal endothelium.
Phenotype-based relationships between genes and organs from Gene ORGANizer for AGBL1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
Regions:
Head and neck:
- eye
- head
General:
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for AGBL1
- genomics-online: primer clones - Search results for available AGBL1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for AGBL1 Gene
Orthologs for AGBL1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AGBL1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | AGBL1 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Agbl1 33 |
|
||
| cow (Bos Taurus) |
Mammalia | LOC100300175 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Agbl1 16 33 |
|
||
| chicken (Gallus gallus) |
Aves | AGBL1 33 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | agbl1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100536841 33 |
|
- 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)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for AGBL1 Gene
Variants for AGBL1 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs181958589 | pathogenic, Corneal dystrophy, Fuchs endothelial, 8, Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523] | 86,674,322(+) | G/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs185919705 | pathogenic, Corneal dystrophy, Fuchs endothelial, 8 | 86,674,435(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained | |
| rs1000003145 | -- | 86,182,702(+) | G/A | intron_variant | |
| rs1000004947 | -- | 86,814,110(+) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000005076 | -- | 86,104,298(+) | G/A | genic_upstream_transcript_variant, intron_variant |
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)
Additional Variant Information for AGBL1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGBL1 Gene
Disorders for AGBL1 Gene
(4) MalaCards diseases for AGBL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal dystrophy, fuchs endothelial, 8 |
|
|
| fuchs' endothelial dystrophy |
|
|
| corneal dystrophy |
|
|
| corneal disease |
|
|
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.
Additional Disease Information for AGBL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AGBL1 Gene
Publications for AGBL1 Gene
- Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. (PMID: 24094747) Riazuddin SA … Gottsch JD (American journal of human genetics 2013) 2 3 4 58
- Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PMID: 21993531) Kuparinen T … Hurme M (Genes and immunity 2012) 3 44 58
- Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 44 58
- Meta-analysis of genome-wide association for migraine in six population-based European cohorts. (PMID: 21448238) Ligthart L … Boomsma DI (European journal of human genetics : EJHG 2011) 3 44 58
- 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 44 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 5 available AGBL1 Antibodies ranked by validation data
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Sources for AGBL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
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