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CPQ

gene
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Also known as LDPPGCP

Summary

CPQ (carboxypeptidase Q, HGNC:16910) is a protein-coding gene on chromosome 8q22.1, encoding Carboxypeptidase Q (Q9Y646). Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides.

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.

Source: NCBI Gene 10404 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 96 total — 1 pathogenic
  • MANE Select transcript: NM_016134

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16910
Approved symbolCPQ
Namecarboxypeptidase Q
Location8q22.1
Locus typegene with protein product
StatusApproved
AliasesLDP, PGCP
Ensembl geneENSG00000104324
Ensembl biotypeprotein_coding
OMIM618754
Entrez10404

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000220763, ENST00000517742, ENST00000519484, ENST00000519900, ENST00000521142, ENST00000522617, ENST00000525310, ENST00000529551, ENST00000532528, ENST00000863815, ENST00000863816, ENST00000863817, ENST00000863818, ENST00000863819, ENST00000863820, ENST00000863821, ENST00000960276, ENST00000960277, ENST00000960278, ENST00000960279

RefSeq mRNA: 1 — MANE Select: NM_016134 NM_016134

CCDS: CCDS6273

Canonical transcript exons

ENST00000220763 — 8 exons

ExonStartEnd
ENSE000008883849683497396835180
ENSE000010267359702940397029494
ENSE000010267389696593596966046
ENSE000011547129687979896880005
ENSE000011567179678486496785330
ENSE000012473929664524296645402
ENSE000013113919714302097143501
ENSE000036106129706600997066210

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5549 / max 1500.8400, expressed in 1671 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter IDTPM avgSamples expressed
8985913.76041590
898586.51361448
898760.749466
898730.308944
898740.299438
898570.229792
898700.134439
898720.103622
898750.093823
898610.078412

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
left lobe of thyroid glandUBERON:000112098.33gold quality
thyroid glandUBERON:000204698.22gold quality
right lobe of thyroid glandUBERON:000111998.10gold quality
right coronary arteryUBERON:000162597.13gold quality
saphenous veinUBERON:000731897.05gold quality
descending thoracic aortaUBERON:000234596.72gold quality
popliteal arteryUBERON:000225096.54gold quality
tibial arteryUBERON:000761096.53gold quality
gall bladderUBERON:000211096.49gold quality
aortaUBERON:000094796.41gold quality
arteryUBERON:000163796.35gold quality
left ovaryUBERON:000211996.35gold quality
thoracic aortaUBERON:000151596.27gold quality
ascending aortaUBERON:000149696.23gold quality
right ovaryUBERON:000211896.19gold quality
vena cavaUBERON:000408795.57gold quality
coronary arteryUBERON:000162195.50gold quality
parotid glandUBERON:000183195.43gold quality
left coronary arteryUBERON:000162695.36gold quality
monocyteCL:000057695.25gold quality
stromal cell of endometriumCL:000225595.09gold quality
endocervixUBERON:000045894.98gold quality
mononuclear cellCL:000084294.75gold quality
leukocyteCL:000073894.63gold quality
synovial jointUBERON:000221794.33gold quality
left uterine tubeUBERON:000130394.30gold quality
calcaneal tendonUBERON:000370194.12gold quality
bloodUBERON:000017894.07gold quality
body of uterusUBERON:000985393.96gold quality
renal medullaUBERON:000036293.83gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-HCAD-35yes22.90
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting CPQ, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3162-3P100.0065.37363
HSA-MIR-432-3P100.0067.86705
HSA-MIR-428299.9975.366408
HSA-MIR-218-5P99.9372.222103
HSA-MIR-6744-5P99.9366.82748
HSA-MIR-391999.8769.452489
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-430799.8270.453374
HSA-MIR-1255A99.7468.09744
HSA-MIR-1255B-5P99.7468.16741
HSA-MIR-149-3P99.7268.223963
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-317599.6566.302031
HSA-MIR-1251-3P99.6467.211408
HSA-MIR-4756-3P99.6266.301319
HSA-MIR-426199.5970.303415
HSA-MIR-1211799.5067.57868
HSA-MIR-147B-5P99.4570.622432
HSA-MIR-145-3P99.3367.66764
HSA-MIR-4777-5P99.3367.531148
HSA-MIR-397899.2468.392201
HSA-MIR-4796-3P99.0868.381681
HSA-MIR-7854-3P99.0866.261117
HSA-MIR-4699-5P98.9967.501210
HSA-MIR-4709-3P98.8868.041594
HSA-MIR-4477A98.8369.752952
HSA-MIR-3689A-5P98.3570.121049
HSA-MIR-3689B-5P98.3570.121049
HSA-MIR-3689E98.3570.121049

Literature-anchored findings (GeneRIF, showing 2)

  • PGCP negatively associates with Wnt/beta-catenin signaling during metastasis. Targeting this regulation may represent a novel and effective therapeutic option for liver cancer by preventing metastatic activity of primary tumor cells. (PMID:27806330)
  • Data provide evidence that PGCP promoter hypermethylation is associated with human bronchial epithelial cells immortalization and lung cancer. (PMID:29196255)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusCpqENSMUSG00000039007
rattus_norvegicusCpqENSRNOG00000005931

Protein

Protein identifiers

Carboxypeptidase Q — Q9Y646 (reviewed: Q9Y646)

Alternative names: Lysosomal dipeptidase, Plasma glutamate carboxypeptidase

All UniProt accessions (6): E5RH35, E5RJA8, E5RJP8, E5RJZ7, Q9Y646, H0YBB7

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Homodimer. The monomeric form is inactive while the homodimer is active.

Subcellular location. Endoplasmic reticulum. Golgi apparatus. Lysosome. Secreted.

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).

Post-translational modifications. N-glycosylated. The secreted form is modified by hybrid or complex type oligosaccharide chains.

Induction. Up-regulated in the majority of hepatitis C virus-associated hepatocellular carcinoma.

Similarity. Belongs to the peptidase M28 family.

RefSeq proteins (1): NP_057218* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007484Peptidase_M28Domain
IPR039866CPQFamily

Pfam: PF04389

UniProt features (21 total): binding site 6, glycosylation site 5, sequence conflict 5, signal peptide 1, propeptide 1, sequence variant 1, chain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y646-F193.810.92

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 336 (nucleophile)

Ligand- & substrate-binding residues (6): 290; 302; 302; 337; 364; 434

Glycosylation sites (5): 61, 179, 353, 356, 396

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 204 (showing top): GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOMF_METALLOPEPTIDASE_ACTIVITY, MODULE_151, MATTIOLI_MGUS_VS_PCL, GOBP_GROWTH, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_REGENERATION, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, PATIL_LIVER_CANCER, GOBP_PEPTIDE_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, DELYS_THYROID_CANCER_DN, CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP, GOBP_TISSUE_REGENERATION

GO Biological Process (4): proteolysis (GO:0006508), thyroid hormone generation (GO:0006590), tissue regeneration (GO:0042246), peptide catabolic process (GO:0043171)

GO Molecular Function (7): carboxypeptidase activity (GO:0004180), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), metallodipeptidase activity (GO:0070573), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787)

GO Cellular Component (7): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
cytoplasm2
endomembrane system2
intracellular membrane-bounded organelle2
protein metabolic process1
thyroid hormone metabolic process1
regeneration1
developmental growth1
peptide metabolic process1
catabolic process1
exopeptidase activity1
identical protein binding1
protein dimerization activity1
cation binding1
metalloexopeptidase activity1
dipeptidase activity1
hydrolase activity1
catalytic activity, acting on a protein1
peptidase activity1
catalytic activity1
intracellular anatomical structure1
lytic vacuole1
extracellular vesicle1

Protein interactions and networks

STRING

686 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CPQMTDHQ86UE4542
CPQLRRTM4Q86VH4491
CPQTECP42680448
CPQMTFR1Q15390448
CPQCRCPO75575446
CPQCTNNA2P26232442
CPQGGA2Q9UJY4426
CPQPRCPP42785419
CPQCTSAP10619405
CPQDPP3Q9NY33402
CPQPIGKQ92643392
CPQCPOXP36551390
CPQBCL2L10Q9HD36379
CPQEPHA8P29322378
CPQSLC66A1LPA1A4F0375

IntAct

5 interactions, top by confidence:

ABTypeScore
CPQCOX7A2Lpsi-mi:“MI:0914”(association)0.350
SHTN1psi-mi:“MI:0914”(association)0.350
INSRBLTP3Bpsi-mi:“MI:0914”(association)0.350
CDH5ESYT2psi-mi:“MI:2364”(proximity)0.270
CDH5MYO1Cpsi-mi:“MI:2364”(proximity)0.270

BioGRID (22): CPQ (Protein-RNA), ORMDL2 (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), CANT1 (Affinity Capture-MS), RSPRY1 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), SLC25A46 (Affinity Capture-MS), DAAM1 (Affinity Capture-MS), SLC25A20 (Affinity Capture-MS), MUL1 (Affinity Capture-MS)

ESM2 similar proteins: A3KG59, A4IFH5, B9N1F9, D3ZVR9, O04059, O35331, O35621, O46560, P11172, P24298, P37111, Q03154, Q04609, Q15124, Q17QK3, Q2R483, Q501L1, Q5E9T8, Q5I0K3, Q5NAY4, Q5R514, Q5R5C9, Q5RDE7, Q5RDN7, Q5RFB0, Q5RFI8, Q6AY30, Q6AYS7, Q6K2E8, Q6PTT0, Q6Q0N1, Q6ZV70, Q7TSV4, Q7X7L3, Q8BZF8, Q8CG45, Q8CG76, Q8IYS1, Q8K183, Q8N0X4

Diamond homologs: A0A1D6L709, A7UI09, A7UI10, C5FTZ6, D4AWC9, D4B1R0, D4D3D1, O35409, O77564, P70627, P80561, P91406, Q04609, Q17QK3, Q4WFX9, Q5QHG6, Q5RDN7, Q6IRK9, Q7Y228, Q852M4, Q9CZR2, Q9HBA9, Q9M1S8, Q9WVJ3, Q9Y3Q0, Q9Y646, A4R017, B2W3C7, B2W572, C4JHZ6, C5FLR8, C5FP82, C9SPU8, D4AM42, D4AZ23, D4B4V2, D4D8N9, D4DDS4, D4DF09, E3RJ99

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

96 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance65
Likely benign4
Benign7

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
60388GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1Pathogenic

SpliceAI

3803 predictions. Top by Δscore:

VariantEffectΔscore
8:96645400:CAGG:Cdonor_loss1.0000
8:96645401:AGG:Adonor_loss1.0000
8:96645402:GG:Gdonor_loss1.0000
8:96645404:T:Adonor_loss1.0000
8:96834971:A:AGacceptor_gain1.0000
8:96834972:G:GGacceptor_gain1.0000
8:96834972:GGC:Gacceptor_gain1.0000
8:96965929:TTCTA:Tacceptor_loss1.0000
8:96965930:TCTA:Tacceptor_loss1.0000
8:96965931:CTAG:Cacceptor_loss1.0000
8:96965932:TA:Tacceptor_loss1.0000
8:96965933:A:Gacceptor_loss1.0000
8:96966019:G:GTdonor_gain1.0000
8:96966019:G:Tdonor_gain1.0000
8:97066206:GCCTG:Gdonor_gain1.0000
8:97066207:CCTGG:Cdonor_loss1.0000
8:97066208:CTGG:Cdonor_loss1.0000
8:97066210:GGT:Gdonor_loss1.0000
8:97066211:G:GGdonor_gain1.0000
8:97066211:GTAA:Gdonor_loss1.0000
8:97066212:T:Gdonor_loss1.0000
8:97108641:G:GTdonor_gain1.0000
8:97143014:CCCCA:Cacceptor_loss1.0000
8:97143015:CCCAG:Cacceptor_loss1.0000
8:97143017:CAG:Cacceptor_loss1.0000
8:97143018:A:AGacceptor_gain1.0000
8:97143018:A:Tacceptor_loss1.0000
8:97143019:G:GAacceptor_loss1.0000
8:97143019:G:GGacceptor_gain1.0000
8:97143019:GGA:Gacceptor_gain1.0000

AlphaMissense

3088 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:96965947:A:CS288R0.996
8:96965949:T:AS288R0.996
8:96965949:T:GS288R0.996
8:97029438:T:AW333R0.994
8:97029438:T:CW333R0.994
8:96965965:T:AW294R0.989
8:96965965:T:CW294R0.989
8:96965962:A:CS293R0.988
8:96965964:C:AS293R0.988
8:96965964:C:GS293R0.988
8:96785309:A:CS138R0.987
8:96785311:C:AS138R0.987
8:96785311:C:GS138R0.987
8:96879871:G:CA239P0.987
8:96965989:G:CD302H0.986
8:96965990:A:TD302V0.986
8:97143076:G:CD438H0.986
8:96965991:T:AD302E0.985
8:96965991:T:GD302E0.985
8:96835147:T:CL203P0.984
8:96879966:C:AN270K0.984
8:96879966:C:GN270K0.984
8:96835051:T:AV171D0.983
8:96965990:A:CD302A0.982
8:97029427:G:CR329P0.982
8:96965959:G:CD292H0.981
8:97143127:T:AW455R0.981
8:97143127:T:CW455R0.981
8:96879851:C:AA232D0.980
8:96965953:C:GH290D0.979

dbSNP variants (sampled 300 via entrez): RS1000002926 (8:97112062 T>C), RS1000012505 (8:96794100 G>A,C), RS1000012863 (8:96718939 T>C), RS1000013284 (8:96928800 A>G,T), RS1000025428 (8:97035684 G>A), RS1000030328 (8:96744499 C>G), RS1000035872 (8:96787780 T>C), RS1000043590 (8:96977994 G>T), RS1000055386 (8:97029078 T>C), RS1000057582 (8:96654797 G>A), RS1000061575 (8:96697972 A>G), RS1000064705 (8:97115966 C>G), RS1000073941 (8:96750613 CT>C,CTT), RS1000079062 (8:96648696 G>C), RS1000090779 (8:96932088 C>T)

Disease associations

OMIM: gene MIM:618754 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

StudyTraitp-value
GCST000782_1Migraine2.000000e-11
GCST002053_2Sleep duration2.000000e-06
GCST002058_12DNA methylation (variation)1.000000e-06
GCST004735_34Epstein-Barr virus copy number in lymphoblastoid cell lines7.000000e-06
GCST006585_2013Blood protein levels7.000000e-58
GCST008161_130Waist circumference adjusted for body mass index9.000000e-06
GCST009379_115Type 2 diabetes2.000000e-12
GCST90000047_163Age at first sexual intercourse3.000000e-10

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0022599DNA methylation
EFO:0007789BMI-adjusted waist circumference
EFO:0009749age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M14: Carboxypeptidase A

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression4
Aflatoxin B1decreases expression, decreases methylation, affects expression3
bisphenol Aaffects cotreatment, decreases methylation, decreases expression2
Valproic Aciddecreases methylation, increases expression2
aristolochic acid Idecreases expression1
bisphenol Fincreases expression1
dicrotophosdecreases expression1
methyleugenoldecreases expression1
triphenyl phosphateaffects expression1
sodium arseniteincreases expression1
aflatoxin B2decreases methylation1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
bisphenol Bincreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
MRK 003decreases expression1
bisphenol Sincreases expression1
jinfukangaffects cotreatment, decreases expression1
(+)-JQ1 compounddecreases expression1
bisphenol AFincreases expression1
Dasatinibincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Air Pollutantsaffects expression, increases abundance1
Cisplatinaffects cotreatment, decreases expression1
Diethylhexyl Phthalatedecreases expression1
Doxorubicindecreases expression1
Folic Aciddecreases expression1
Leadaffects expression1
Nickeldecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgtopdb_interactiongwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot