CPQ (carboxypeptidase Q)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10404
Gene name Gene Name - the full gene name approved by the HGNC.
Carboxypeptidase Q
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPQ
Synonyms (NCBI Gene) Gene synonyms aliases
LDP, PGCP
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space HDA 20551380
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IDA 10206990
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618754 16910 ENSG00000104324
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y646
Protein name Carboxypeptidase Q (EC 3.4.17.-) (Lysosomal dipeptidase) (Plasma glutamate carboxypeptidase)
Protein function Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thy
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04389 Peptidase_M28 270 → 459 Peptidase family M28 Family
Tissue specificity TISSUE SPECIFICITY: Mainly detected in blood plasma. Abundant in placenta and kidney. Present at low level in muscles, liver and skin fibroblasts. Not detected in brain or white blood cells (at protein level). {ECO:0000269|PubMed:10206990}.
Sequence 
MKFLIFAFFGGVHLLSLCSGKAICKNGISKRTFEEIKEEIASCGDVAKAIINLAVYGKAQ
NRSYERLALLVDTVGPRLSGSKNLEKAIQIMYQNLQQDGLEKVHLEPVRIPHWERGEESA
VMLEPRIHKIAILGLGSSIGTPPEGITAEVLVVTSFDELQRRASEARGKIVVYNQPYINY
SRTVQYRTQGAVEAAKVGALASLIRSVASFSIYSPHTGIQEYQDGVPKIPTACITVEDAE
MMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQVVLVSGHLDSWDVGQGA
MDDGGGAFISWEALSLIKDLGLRPKRTLRLVLWTAEEQGGVGAFQYYQLHKVNISNYSLV
MESDAGTFLPTGLQFTGSEKARAIMEEVMSLLQPLNITQVLSHGEGTDINFWIQAGVPGA
SLLDDLYKYFFFHHSHGDTMTVMDPKQMNVAAAVWAVVSYVVADMEEMLPRS
Sequence length 472
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 12355480
Breast Neoplasms Associate 32663742
Carcinoma Non Small Cell Lung Associate 26935506
Cerebral Infarction Associate 35962388
Endometrial Neoplasms Associate 26689674
Glioblastoma Associate 38019838
Inflammation Associate 12748171
Intervertebral Disc Degeneration Associate 31851863
Leukemia Myeloid Associate 26496029
Leukemia Myeloid Acute Associate 26496029