Gene Gene information from NCBI Gene database.
Entrez ID 54504
Gene name Carboxypeptidase vitellogenic like
Gene symbol CPVL
Synonyms (NCBI Gene)
HVLP
Chromosome 7
Chromosome location 7p14.3
Summary The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptid
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT907803 hsa-miR-3908 CLIP-seq
MIRT907804 hsa-miR-4291 CLIP-seq
MIRT907805 hsa-miR-545 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004185 Function Serine-type carboxypeptidase activity IBA
GO:0004185 Function Serine-type carboxypeptidase activity IEA
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609780 14399 ENSG00000106066
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3G5
Protein name Probable serine carboxypeptidase CPVL (EC 3.4.16.-) (Carboxypeptidase, vitellogenic-like) (Vitellogenic carboxypeptidase-like protein) (VCP-like protein) (hVLP)
Protein function May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00450 Peptidase_S10 64 468 Serine carboxypeptidase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in macrophages but not in other leukocytes. Abundantly expressed in heart and kidney. Also expressed in spleen, leukocytes, and placenta.
Sequence
Sequence length 476
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 37925455 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 28554503
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 19442274, 22455605
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 19442274 Associate
★☆☆☆☆
Found in Text Mining only
Cervical Intraepithelial Neoplasia Cervical Intraepithelial Neoplasia BEFREE 10073700
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 19387582
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 29922448
★☆☆☆☆
Found in Text Mining only