CPZ (carboxypeptidase Z)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8532
Gene name Carboxypeptidase Z
Gene symbol CPZ
Synonyms (NCBI Gene)
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Chromosome 4
Chromosome location 4p16.1
Summary This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of meta
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs375633720 C>T Likely-pathogenic Coding sequence variant, missense variant
rs775707132 G>A,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT035807 hsa-miR-1909-5p CLASH 23622248
MIRT907820 hsa-miR-1908 CLIP-seq
MIRT907821 hsa-miR-3656 CLIP-seq
MIRT907822 hsa-miR-4731-5p CLIP-seq
MIRT907823 hsa-miR-4793-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity IBA
GO:0004181 Function Metallocarboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity TAS 9099699
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603105 2333 ENSG00000109625
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q66K79
Protein name Carboxypeptidase Z (CPZ) (EC 3.4.17.-)
Protein function Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing. {ECO:0000269|PubMed:11766880, ECO:0000269|PubMed:12
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 43 → 154 Fz domain Domain
PF00246 Peptidase_M14 193 → 494 Zinc carboxypeptidase Domain
PF13620 CarboxypepD_reg 505 → 582 Domain
Tissue specificity TISSUE SPECIFICITY: In placenta, it is present within invasive trophoblasts and in the surrounding extracellular space. Also present in amnion cells, but is not readily apparent in the extracellular matrix of this cell type. Present in normal pituitary gl
Sequence
Sequence length 652
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature Likely pathogenic rs375633720 RCV000736116
Show/Hide Unknown Diseases (19)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs12650877 RCV005935116
Cervical cancer Benign rs147588134, rs12650877 RCV005938739
RCV005935119
Cholangiocarcinoma Benign rs147588134 RCV005938744
Clear cell carcinoma of kidney Benign rs12650877 RCV005935120
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 40189907
Cholangiocarcinoma Associate 40189907
COVID 19 Inhibit 36333264
Growth Disorders Associate 30809043
Mastocytosis Systemic Inhibit 36333264
Metabolic Syndrome Associate 37049604
Neuroblastoma Associate 28545128