Human Gene AGBL1 (ENST00000441037.7) Description and Page Index
  Description: Homo sapiens ATP/GTP binding protein like 1 (AGBL1), mRNA. (from RefSeq NM_152336)
RefSeq Summary (NM_152336): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA2158800, SAMN03465409 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000441037.7
Gencode Gene: ENSG00000273540.4
Transcript (Including UTRs)
   Position: hg38 chr15:86,079,973-87,029,052 Size: 949,080 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg38 chr15:86,079,973-87,028,840 Size: 948,868 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:86,079,973-87,029,052)mRNA (may differ from genome)Protein (1112 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtOMIMPubMedReactome
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CBPC4_HUMAN
DESCRIPTION: RecName: Full=Cytosolic carboxypeptidase 4; EC=3.4.17.-; AltName: Full=ATP/GTP-binding protein-like 1;
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 (By similarity).
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SUBUNIT: Interacts with MYLK (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytosol (By similarity).
SIMILARITY: Belongs to the peptidase M14 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: AGBL1
Diseases sorted by gene-association score: corneal dystrophy, fuchs endothelial, 8* (1330), fuchs' endothelial dystrophy* (178), corneal dystrophy (16), corneal disease (8)
* = Manually curated disease association

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -39.40212-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000834 - Peptidase_M14

Pfam Domains:
PF00246 - Zinc carboxypeptidase

ModBase Predicted Comparative 3D Structure on Q96MI9
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004180 carboxypeptidase activity
GO:0004181 metallocarboxypeptidase activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0015631 tubulin binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0035609 C-terminal protein deglutamylation
GO:0035610 protein side chain deglutamylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC128152 - Homo sapiens ATP/GTP binding protein-like 1, mRNA (cDNA clone IMAGE:40112618), complete cds.
AK056872 - Homo sapiens cDNA FLJ32310 fis, clone PROST2003102.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96MI9 (Reactome details) participates in the following event(s):

R-HSA-8866105 CCPs deglutamylate tubulin
R-HSA-8955332 Carboxyterminal post-translational modifications of tubulin
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A1A4X5, A6NJH6, C9JHL5, CBPC4_HUMAN, CCP4, NM_152336, Q96MI9, uc285mpt.1
UCSC ID: uc285mpt.1
RefSeq Accession: NM_152336
Protein: Q96MI9 (aka CBPC4_HUMAN)
CCDS: CCDS58398.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.