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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 metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CPZ (Carboxypeptidase Z) is a Protein Coding gene. Diseases associated with CPZ include Locked-In Syndrome and Epithelial-Stromal Tgfbi Dystrophy. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is CPXM1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH04J008591 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 600.7 | +0.7 | 706 | 2.1 | GATAD2A CTCF PRDM10 REST KDM1A RCOR2 MTA2 ZIC2 PKNOX1 ZNF24 | CPZ lnc-ACOX3-7 GPR78 HMX1 | |
GH04J008594 | Enhancer | 1 | ENCODE dbSUPER | 600.7 | +1.9 | 1939 | 0.2 | CEBPG GATAD2A CTCF PRDM10 REST KDM1A RCOR2 JUND MTA2 PKNOX1 | CPZ lnc-ACOX3-7 GPR78 HMX1 | |
GH04J008600 | Promoter/Enhancer | 0.7 | EPDnew Ensembl | 600.4 | +8.2 | 8241 | 0.2 | ZFHX2 POLR2A EGR2 | CPZ lnc-ACOX3-7 GPR78 HMX1 | |
GH04J008621 | Promoter | 0.3 | EPDnew | 600.3 | +26.8 | 26827 | 0.1 | lnc-ACOX3-7 CPZ HSALNG0032774 GPR78 HMX1 | ||
GH04J007936 | Promoter/Enhancer | 1.6 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 14.3 | -653.7 | -653710 | 6.3 | TEAD4 PRDM10 TARDBP FOXA1 PRDM1 RBFOX2 POLR2A PATZ1 EZH2 ZFX | AFAP1 LOC389199 TRMT44 CPZ GPR78 piR-61945-377 PSAPL1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004180 | carboxypeptidase activity | IEA | -- |
GO:0004181 | metallocarboxypeptidase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | TAS | 9099699 |
GO:0006518 | peptide metabolic process | IBA | 21873635 |
GO:0016055 | Wnt signaling pathway | IEA | -- |
GO:0016485 | protein processing | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CPZ 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CPZ 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CPZ 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cpz 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cpz 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CPZ 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CPZ 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CPZ 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CPZ 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cpz 30 |
|
||
Str.12000 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | cpz 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F59A3.1 32 |
|
|
|
F01D4.4 32 |
|
|
|||
egl-21 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709574 | Benign: not provided | 8,606,067(+) | A/G | MISSENSE_VARIANT | |
723701 | Likely Benign: not provided | 8,619,543(+) | G/A | MISSENSE_VARIANT | |
725828 | Likely Benign: not provided | 8,619,500(+) | G/A | SYNONYMOUS_VARIANT | |
747259 | Likely Benign: not provided | 8,614,360(+) | C/A | SYNONYMOUS_VARIANT | |
747260 | Likely Benign: not provided | 8,619,599(+) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759222 | CNV | gain+loss | 17122850 |
esv33219 | CNV | gain | 17666407 |
esv34196 | OTHER | inversion | 12058347 |
nsv1005698 | CNV | gain | 25217958 |
nsv1014219 | CNV | gain | 25217958 |
nsv10442 | CNV | gain | 18304495 |
nsv1128032 | CNV | deletion | 24896259 |
nsv4225 | CNV | insertion | 18451855 |
nsv4226 | CNV | deletion | 18451855 |
nsv428437 | CNV | gain | 18775914 |
nsv470015 | CNV | loss | 18288195 |
nsv518282 | CNV | loss | 19592680 |
nsv521867 | CNV | loss | 19592680 |
nsv829855 | CNV | gain+loss | 17160897 |
nsv949785 | CNV | deletion | 24416366 |
nsv949786 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
locked-in syndrome |
|
|
epithelial-stromal tgfbi dystrophy |
|
|
oesophagostomiasis |
|
|
osteogenesis imperfecta, type i |
|
|
myasthenic syndrome, congenital, 1a, slow-channel |
|
|