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AGBL1 AGBL carboxypeptidase 1 [ Homo sapiens (human) ]

Gene ID: 123624, updated on 31-Oct-2022

Summary

Official Symbol
AGBL1provided by HGNC
Official Full Name
AGBL carboxypeptidase 1provided by HGNC
Primary source
HGNC:HGNC:26504
See related
Ensembl:ENSG00000273540 MIM:615496; AllianceGenome:HGNC:26504
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCP4; FECD8
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See AGBL1 in Genome Data Viewer
Location:
15q25.3
Exon count:
29
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (86079620..87031476)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (83834387..84784062)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (86622851..87572283)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370952 Neighboring gene uncharacterized LOC105370953 Neighboring gene long intergenic non-protein coding RNA 1584 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene RNA, 5S ribosomal pseudogene 400 Neighboring gene AGBL1 antisense RNA 1 Neighboring gene uncharacterized LOC105370954 Neighboring gene uncharacterized LOC102724452 Neighboring gene uncharacterized LOC105370955 Neighboring gene uncharacterized LOC107984735

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Corneal dystrophy, Fuchs endothelial, 8
MedGen: C3809798 OMIM: 615523 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
EBI GWAS Catalog
Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.
EBI GWAS Catalog
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
EBI GWAS Catalog
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
EBI GWAS Catalog
Genomewide association for schizophrenia in the CATIE study: results of stage 1.
EBI GWAS Catalog
Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
EBI GWAS Catalog
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32310, FLJ39578, MGC149239

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metallocarboxypeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in C-terminal protein deglutamylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in C-terminal protein deglutamylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein side chain deglutamylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein side chain deglutamylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytosolic carboxypeptidase 4
Names
ATP/GTP binding protein like 1
protein deglutamylase CCP4
NP_001373023.1
NP_689549.3
XP_011519529.1
XP_011519530.1
XP_011519532.1
XP_016877407.1
XP_016877408.1
XP_016877409.1
XP_016877410.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033836.3 RefSeqGene

    Range
    5253..841538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001386094.1NP_001373023.1  cytosolic carboxypeptidase 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC012229, AC016180, AC016987, AC022817, AC025842, AC069197, AC107978
    Consensus CDS
    CCDS92052.1
    UniProtKB/TrEMBL
    A0A1B0GVQ2
    Related
    ENSP00000490608.2, ENST00000614907.3
    Conserved Domains (2) summary
    cd06906
    Location:7541019
    M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases
    pfam18027
    Location:596730
    Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain
  2. NM_152336.4NP_689549.3  cytosolic carboxypeptidase 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC012229, AC016180, AC016987, AC022817, AC025842, AC069197, AC078905, AC107978
    Consensus CDS
    CCDS58398.2
    UniProtKB/Swiss-Prot
    C9JHL5
    UniProtKB/TrEMBL
    A0A1C7CYX3
    Related
    ENSP00000413001.3, ENST00000441037.7
    Conserved Domains (2) summary
    cd06906
    Location:7541040
    M14_Nna1; Peptidase M14-like domain of ATP/GTP binding proteins and cytosolic carboxypeptidases
    pfam18027
    Location:596730
    Pepdidase_M14_N; Cytosolic carboxypeptidase N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    86079620..87031476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521227.4XP_011519529.1  cytosolic carboxypeptidase 4 isoform X3

    Conserved Domains (1) summary
    cl11393
    Location:7431019
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
  2. XM_017021919.3XP_016877408.1  cytosolic carboxypeptidase 4 isoform X2

  3. XM_017021918.3XP_016877407.1  cytosolic carboxypeptidase 4 isoform X1

  4. XM_017021920.3XP_016877409.1  cytosolic carboxypeptidase 4 isoform X4

  5. XM_011521228.4XP_011519530.1  cytosolic carboxypeptidase 4 isoform X5

    Conserved Domains (1) summary
    cl11393
    Location:743795
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
  6. XM_017021921.3XP_016877410.1  cytosolic carboxypeptidase 4 isoform X6

  7. XM_011521230.4XP_011519532.1  cytosolic carboxypeptidase 4 isoform X7

RNA

  1. XR_007064423.1 RNA Sequence

  2. XR_931751.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    83834387..84784062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)