CPVL

Probable serine carboxypeptidase CPVL is an enzyme that in humans is encoded by the CPVL gene.^[5][6] The "CPVL" gene is expressed mainly in monocytes and macrophages,^[5] and it is located in the endoplasmatic reticulum and in the endosomal/lysosomal compartment. The distribution of CPVL suggests that the enzyme may be involved in antigen processing and the secretory pathway.^[7] Besides those macrophages-rich tissues, the heart and kidney also express high levels of CPVL mRNA.The enzyme is similar to the carboxypeptidases CATHA and SCPEP1, but no direct confirmation of the enzymatic activity was obtained so far.^[8] The exact function of this protein, however, has not been determined.

CPVL
Identifiers
Aliases	CPVL, HVLP, carboxypeptidase, vitellogenic like, carboxypeptidase vitellogenic like
External IDs	OMIM: 609780; MGI: 1918537; HomoloGene: 80235; GeneCards: CPVL; OMA:CPVL - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p14.3 Start 28,995,235 bp[1] End 29,195,451 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 B3 Start 53,850,264 bp[2] End 53,955,656 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte spleen renal medulla left lobe of thyroid gland gonad right lobe of thyroid gland apex of heart left ventricle blood Top expressed in spermatid secondary oocyte seminiferous tubule zygote primary oocyte embryo spermatocyte embryo vastus lateralis muscle jejunum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function carboxypeptidase activity peptidase activity hydrolase activity serine-type carboxypeptidase activity Cellular component extracellular exosome Biological process proteolysis involved in cellular protein catabolic process proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54504 71287 Ensembl ENSG00000106066 ENSMUSG00000052955 UniProt Q9H3G5 Q9D3S9 RefSeq (mRNA) NM_019029 NM_031311 NM_001348052 NM_001348054 NM_001289713 NM_001289714 NM_027749 RefSeq (protein) NP_061902 NP_112601 NP_001334981 NP_001334983 NP_001358184 NP_001358185 NP_001358186 NP_001358187 NP_001358189 NP_001358190 NP_001358191 NP_001358192 NP_001358193 NP_001358194 NP_001358195 NP_001358196 NP_001358197 NP_001276642 NP_001276643 NP_082025 Location (UCSC) Chr 7: 29 – 29.2 Mb Chr 6: 53.85 – 53.96 Mb PubMed search [3] [4]
Wikidata
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Structure

Gene

"CPVL" gene is located at chromosome 7p15.1, consisting of 14 exons. At least two alternatively spliced transcripts which encode the same protein have been observed.^[6]

Protein

The designation of CPVL is a true serine carboxypeptidase. Although the primary sequence displays the expected serine carboxypeptidase active site, the enzymatic activity remains to be demonstrated. The primary sequence of CPVL contains a putative signal sequence, four potential N-linked glycosylation sites and four myristoylation sites, but no transmembrane domain, suggesting that it may be luminal in an organelle and/or involved in the secretory pathway.^[7]

Function

Although the primary sequence of CPVL bears every hallmarks of a serine carboxypeptidase, the enzymatic function of CPVL has not been confirmed. On the basis of its localization, CPVL is postulated to play a role in the biosynthesis of secretory molecules or in the processing and transport of peptides for loading onto MHC I molecules, or in MHC II-dependent APC functions.^[7] The high-level expression of CPVL mRNA in heart and kidney implies that CPVL may also have extra immune functions, such as regulation of cardiovascular homeostasis.^[5]

Clinical significance

The deletion of this gene has been reported associated with Wilms tumor.^[9] GWAS show that genetic variations of the CPVL gene are associated with susceptibility to diabetic nephropathy in European Americans, Japanese and Chinese.^[10][11][12] CPVL is also reported to be one of the four down-regulated proteins which is related to severity of inflammation, and it may be a potential biomarker for identification of infection and prediction of outcome.^[13]