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] See more...

Aliases for CPQ Gene

Aliases for CPQ Gene

  • Carboxypeptidase Q 2 3 4 5
  • Lysosomal Dipeptidase 2 3 4
  • PGCP 2 3 4
  • Plasma Glutamate Carboxypeptidase 2 4
  • Ser-Met Dipeptidase 2 3
  • LDP 2 3
  • Blood Plasma Glutamate Carboxypeptidase 3
  • Aminopeptidase 3
  • EC 3.4.17.- 4
  • LCH1 4
  • CPQ 5

External Ids for CPQ Gene

Previous GeneCards Identifiers for CPQ Gene

  • GC08P097657

Summaries for CPQ Gene

Entrez Gene Summary for CPQ 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]

GeneCards Summary for CPQ Gene

CPQ (Carboxypeptidase Q) is a Protein Coding gene. Diseases associated with CPQ include Pancreatic Cystadenocarcinoma and Cleft Palate, Cardiac Defects, And Mental Retardation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and carboxypeptidase activity.

UniProtKB/Swiss-Prot Summary for CPQ Gene

  • 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 thyroglobulin (Tg) precursor.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPQ Gene

Genomics for CPQ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CPQ 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
GH08J096643 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 608.6 +0.3 341 3.2 RNF2 HNRNPL CREB1 GATAD2A PRDM10 TFE3 LEF1 IKZF1 NFKBIZ ZNF692 CPQ piR-47162-173 TSPYL5
GH08J096644 Enhancer 0.3 ENCODE 600.7 -1.7 -1671 0.1 ZNF316 CPQ piR-43107-289 SDC2
GH08J096492 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -150.0 -149984 4.9 RNF2 CREB1 GATAD2A CTCF PRDM10 REST ZNF512 TARDBP FOXA1 PRDM1 MN298520 SDC2 lnc-CPQ-1 CPQ RF00017-7201
GH08J096926 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 14.9 +282.6 282552 3.2 GATAD2A FOXA1 ZIC2 IRF2 SP1 FOXK2 KMT2B ZNF512B CEBPB ZBTB26 CPQ piR-56341-228 L13713-228 TSPYL5
GH08J096618 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.6 -25.3 -25341 6.2 ATF7 ZNF740 CEBPA EP300 MGA ZNF766 NFE2 CEBPB E2F5 ZNF316 CPQ piR-43107-289 SDC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPQ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPQ

Genomic Locations for CPQ Gene

Genomic Locations for CPQ Gene
chr8:96,645,242-97,149,654
(GRCh38/hg38)
Size:
504,413 bases
Orientation:
Plus strand
chr8:97,657,455-98,161,882
(GRCh37/hg19)
Size:
504,428 bases
Orientation:
Plus strand

Genomic View for CPQ Gene

Genes around CPQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPQ Gene

Proteins for CPQ Gene

  • Protein details for CPQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y646-CBPQ_HUMAN
    Recommended name:
    Carboxypeptidase Q
    Protein Accession:
    Q9Y646
    Secondary Accessions:
    • B2RD88
    • Q8NBZ1
    • Q9UNM8
    • Q9Y5X6

    Protein attributes for CPQ Gene

    Size:
    472 amino acids
    Molecular mass:
    51888 Da
    Quaternary structure:
    • Homodimer. The monomeric form is inactive while the homodimer is active.
    SequenceCaution:
    • Sequence=AAD31418.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for CPQ Gene

Post-translational modifications for CPQ Gene

  • N-glycosylated. The secreted form is modified by hybrid or complex type oligosaccharide chains (By similarity).
  • Glycosylation at Asn61, Asn179, Asn353, Asn356, and Asn396
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CPQ Gene

No data available for DME Specific Peptides for CPQ Gene

Domains & Families for CPQ Gene

Gene Families for CPQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CPQ Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CPQ Gene

GenScript: Design optimal peptide antigens:
  • Plasma glutamate carboxypeptidase (PGCP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y646

UniProtKB/Swiss-Prot:

CBPQ_HUMAN :
  • Belongs to the peptidase M28 family.
Family:
  • Belongs to the peptidase M28 family.
genes like me logo Genes that share domains with CPQ: view

Function for CPQ Gene

Molecular function for CPQ Gene

UniProtKB/Swiss-Prot 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 thyroglobulin (Tg) precursor.
UniProtKB/Swiss-Prot Induction:
Up-regulated in the majority of hepatitis C virus-associated hepatocellular carcinoma.

Enzyme Numbers (IUBMB) for CPQ Gene

Phenotypes From GWAS Catalog for CPQ Gene

Gene Ontology (GO) - Molecular Function for CPQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042803 protein homodimerization activity IDA 12675526
genes like me logo Genes that share ontologies with CPQ: view
genes like me logo Genes that share phenotypes with CPQ: view

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CPQ Gene

Localization for CPQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPQ Gene

Endoplasmic reticulum. Golgi apparatus. Lysosome. Secreted. Note=Secretion is stimulated by TSH/thyroid-stimulating hormone, INS/insulin and SST/somatostatin. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPQ gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
lysosome 4
golgi apparatus 4
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,IDA 10206990
GO:0005737 cytoplasm IDA 10206990
GO:0005764 lysosome ISS --
GO:0005783 endoplasmic reticulum ISS --
genes like me logo Genes that share ontologies with CPQ: view

Pathways & Interactions for CPQ Gene

PathCards logo

SuperPathways for CPQ Gene

No Data Available

Interacting Proteins for CPQ Gene

Gene Ontology (GO) - Biological Process for CPQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 10206990
GO:0006590 thyroid hormone generation IBA,ISS --
GO:0042246 tissue regeneration ISS --
GO:0043171 peptide catabolic process IBA,IDA 10206990
genes like me logo Genes that share ontologies with CPQ: view

No data available for Pathways by source and SIGNOR curated interactions for CPQ Gene

Drugs & Compounds for CPQ Gene

(50) Drugs for CPQ Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304

(45) Additional Compounds for CPQ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CPQ: view

Transcripts for CPQ Gene

mRNA/cDNA for CPQ Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CPQ Gene

No ASD Table

Relevant External Links for CPQ Gene

GeneLoc Exon Structure for
CPQ

Expression for CPQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPQ Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for CPQ Gene

This gene is overexpressed in Thyroid (24.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CPQ Gene



Protein tissue co-expression partners for CPQ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPQ

SOURCE GeneReport for Unigene cluster for CPQ Gene:

Hs.156178

mRNA Expression by UniProt/SwissProt for CPQ Gene:

Q9Y646-CBPQ_HUMAN
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).

Evidence on tissue expression from TISSUES for CPQ Gene

  • Skin(4.6)
  • Liver(4.5)
  • Heart(4.5)
  • Bone marrow(4.4)
  • Nervous system(3.3)
  • Thyroid gland(3)
  • Muscle(2.6)
  • Gall bladder(2.6)
  • Kidney(2.5)
  • Spleen(2.4)
  • Intestine(2.4)
  • Pancreas(2.3)
  • Lymph node(2.3)
  • Blood(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CPQ: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPQ Gene

Orthologs for CPQ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CPQ Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CPQ 30 31
  • 99.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CPQ 30 31
  • 88.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cpq 30 17 31
  • 87.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CPQ 30 31
  • 86.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cpq 30
  • 86.44 (n)
Oppossum
(Monodelphis domestica)
Mammalia CPQ 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CPQ 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CPQ 30 31
  • 72.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cpq 30
  • 69.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14252 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.224 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001264 30
  • 54.41 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 33
Species where no ortholog for CPQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Zebrafish (Danio rerio)

Evolution for CPQ Gene

ENSEMBL:
Gene Tree for CPQ (if available)
TreeFam:
Gene Tree for CPQ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPQ: view image

Paralogs for CPQ Gene

No data available for Paralogs for CPQ Gene

Variants for CPQ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPQ Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
422436 Likely Benign: not specified 96,784,889(+) G/GA INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT
709343 Benign: not provided 97,029,431(+) G/A SYNONYMOUS_VARIANT
712027 Benign: not provided 96,785,338(+) T/C INTRON_VARIANT
712028 Benign: not provided 96,834,991(+) T/C MISSENSE_VARIANT
731407 Likely Benign: not provided 96,785,059(+) T/TGTTTA NONSENSE

Additional dbSNP identifiers (rs#s) for CPQ Gene

Structural Variations from Database of Genomic Variants (DGV) for CPQ Gene

Variant ID Type Subtype PubMed ID
esv1926609 CNV deletion 18987734
esv2624426 CNV deletion 19546169
esv2660492 CNV deletion 23128226
esv2737337 CNV deletion 23290073
esv2737338 CNV deletion 23290073
esv2737339 CNV deletion 23290073
esv2737341 CNV deletion 23290073
esv3543895 CNV deletion 23714750
esv3543896 CNV deletion 23714750
esv3576596 CNV gain 25503493
esv3618126 CNV loss 21293372
esv3618131 CNV loss 21293372
esv6290 CNV gain 19470904
nsv1115117 CNV deletion 24896259
nsv475983 CNV novel sequence insertion 20440878
nsv477812 CNV novel sequence insertion 20440878
nsv510160 OTHER sequence alteration 20534489
nsv611803 CNV loss 21841781
nsv6323 CNV insertion 18451855
nsv6324 CNV insertion 18451855
nsv820234 CNV loss 19587683

Variation tolerance for CPQ Gene

Residual Variation Intolerance Score: 87.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPQ Gene

Human Gene Mutation Database (HGMD)
CPQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPQ

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPQ Gene

Disorders for CPQ Gene

MalaCards: The human disease database

(11) MalaCards diseases for CPQ Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CPQ in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CPQ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPQ Gene

Publications for CPQ Gene

  1. Identification of novel tumor markers in hepatitis C virus-associated hepatocellular carcinoma. (PMID: 12591738) Smith MW … Katze MG (Cancer research 2003) 3 4 23
  2. Purification, cDNA cloning, and expression of a new human blood plasma glutamate carboxypeptidase homologous to N-acetyl-aspartyl-alpha-glutamate carboxypeptidase/prostate-specific membrane antigen. (PMID: 10206990) Gingras R … Pshezhetsky AV (The Journal of biological chemistry 1999) 2 3 4
  3. Presence of the propeptide on recombinant lysosomal dipeptidase controls both activation and dimerization. (PMID: 17214548) Dolenc I … Turk V (Biological chemistry 2007) 3 4
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  5. Purification and primary structure determination of human lysosomal dipeptidase. (PMID: 12675526) Dolenc I … Mihelic M (Biological chemistry 2003) 3 4

Products for CPQ Gene

Sources for CPQ Gene