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Aliases for CPVL Gene

Aliases for CPVL Gene

  • Carboxypeptidase, Vitellogenic Like 2 3 5
  • Vitellogenic Carboxypeptidase-Like Protein 2 3 4
  • Carboxypeptidase, Vitellogenic-Like 2 4
  • CP-Mac Carboxypeptidase 2 3
  • Carboxypeptidase WUG 2 3
  • VCP-Like Protein 3 4
  • HVLP 3 4
  • Probable Serine Carboxypeptidase CPVL 3
  • EC 3.4.16.- 4
  • EC 3.4.16 58
  • VLP 4

External Ids for CPVL Gene

Previous GeneCards Identifiers for CPVL Gene

  • GC07M028677
  • GC07M028743
  • GC07M028777
  • GC07M028808
  • GC07M029001
  • GC07M028917

Summaries for CPVL Gene

Entrez Gene Summary for CPVL Gene

  • 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 peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017]

GeneCards Summary for CPVL Gene

CPVL (Carboxypeptidase, Vitellogenic Like) is a Protein Coding gene. Diseases associated with CPVL include Encephalomalacia and Aspiration Pneumonitis. GO annotations related to this gene include serine-type carboxypeptidase activity. An important paralog of this gene is SCPEP1.

UniProtKB/Swiss-Prot for CPVL Gene

  • 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.

Gene Wiki entry for CPVL Gene

Additional gene information for CPVL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPVL Gene

Genomics for CPVL Gene

Regulatory Elements for CPVL Gene

Enhancers for CPVL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H029139 1.2 Ensembl ENCODE 17.7 +53.1 53134 4.9 MLX ARID4B DMAP1 SLC30A9 SP5 ZHX2 MXD4 MIER2 PPARG KAT8 CPVL CHN2 LOC101928168 GC07M029191
GH07H029113 1 Ensembl ENCODE 21.2 +81.6 81628 1.6 CTCF PKNOX1 RAD21 ZFHX2 CTBP1 GATA3 SMC3 ZNF207 FOSL2 FOS CPVL LOC107986703 LOC102724484 CHN2
GH07H029336 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -142.1 -142074 2.2 FOXA2 ATF1 MLX ZFP64 ARID4B SP5 MXD4 NFYC MIER2 KAT8 CHN2 CPVL LOC102724484 GC07P029212 GC07M029201
GH07H029319 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -124.6 -124551 0.8 POLR2A IKZF1 RCOR1 EBF1 IKZF2 SPI1 CHN2 CPVL LOC102724484 TRIL GC07P029212 GC07M029201
GH07H029228 1.2 FANTOM5 ENCODE 12.4 -33.6 -33603 1.5 FOXA2 ARID4B YY1 SP5 REST PPARG KAT8 NFIL3 SSRP1 MIER3 CHN2 LOC102724484 CPVL LOC107986703 GC07P029212 GC07M029201
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPVL on UCSC Golden Path with GeneCards custom track

Promoters for CPVL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000210202 451 2001 ELF3 TBP ZSCAN4 ARID4B KLF17 RAD21 ZNF2 RFX5 YY1 GLIS2

Genomic Locations for CPVL Gene

Genomic Locations for CPVL Gene
chr7:28,995,231-29,195,451
(GRCh38/hg38)
Size:
200,221 bases
Orientation:
Minus strand
chr7:29,034,847-29,235,067
(GRCh37/hg19)

Genomic View for CPVL Gene

Genes around CPVL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CPVL Gene

Proteins for CPVL Gene

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

    Protein Symbol:
    Q9H3G5-CPVL_HUMAN
    Recommended name:
    Probable serine carboxypeptidase CPVL
    Protein Accession:
    Q9H3G5
    Secondary Accessions:
    • A4D1A4
    • Q6UX20
    • Q8NBL7
    • Q96AR7
    • Q9HB41

    Protein attributes for CPVL Gene

    Size:
    476 amino acids
    Molecular mass:
    54164 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CPVL Gene

Selected DME Specific Peptides for CPVL Gene

Q9H3G5:
  • NSNLFFW
  • PVGTGFS
  • TGESYAG
  • NLFFWFFPA

Post-translational modifications for CPVL Gene

  • Ubiquitination at posLast=280280, posLast=331331, isoforms=423, and posLast=469469
  • Glycosylation at posLast=8181, isoforms=132, isoforms=307, and isoforms=346
  • Modification sites at PhosphoSitePlus

Domains & Families for CPVL Gene

Gene Families for CPVL Gene

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

Suggested Antigen Peptide Sequences for CPVL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3G5

UniProtKB/Swiss-Prot:

CPVL_HUMAN :
  • Belongs to the peptidase S10 family.
Family:
  • Belongs to the peptidase S10 family.
genes like me logo Genes that share domains with CPVL: view

Function for CPVL Gene

Molecular function for CPVL Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CPVL Gene

Phenotypes From GWAS Catalog for CPVL Gene

Gene Ontology (GO) - Molecular Function for CPVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004185 serine-type carboxypeptidase activity IBA,IEA --
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CPVL: view
genes like me logo Genes that share phenotypes with CPVL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for CPVL Gene

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 CPVL gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
peroxisome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CPVL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CPVL Gene

Pathways & Interactions for CPVL Gene

No Data Available

Gene Ontology (GO) - Biological Process for CPVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0051603 proteolysis involved in cellular protein catabolic process IBA --
genes like me logo Genes that share ontologies with CPVL: view

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

Drugs & Compounds for CPVL Gene

No Compound Related Data Available

Transcripts for CPVL Gene

Unigene Clusters for CPVL Gene

Carboxypeptidase, vitellogenic-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for CPVL Gene

GeneLoc Exon Structure for
CPVL
ECgene alternative splicing isoforms for
CPVL

Expression for CPVL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x8.0), Spleen (x6.0), and Heart - Left Ventricle (x5.6).

Protein differential expression in normal tissues from HIPED for CPVL Gene

This gene is overexpressed in Fetal gut (12.9), Spleen (10.4), and Lymph node (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CPVL Gene



Protein tissue co-expression partners for CPVL Gene

NURSA nuclear receptor signaling pathways regulating expression of CPVL Gene:

CPVL

SOURCE GeneReport for Unigene cluster for CPVL Gene:

Hs.233389

mRNA Expression by UniProt/SwissProt for CPVL Gene:

Q9H3G5-CPVL_HUMAN
Tissue specificity: Expressed in macrophages but not in other leukocytes. Abundantly expressed in heart and kidney. Also expressed in spleen, leukocytes, and placenta.

Evidence on tissue expression from TISSUES for CPVL Gene

  • Lung(4.4)
  • Liver(4.2)
  • Nervous system(3.4)
  • Kidney(2.2)
  • Spleen(2.2)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with CPVL: view

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

Orthologs for CPVL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CPVL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPVL 33 34
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia CPVL 33 34
  • 83.96 (n)
dog
(Canis familiaris)
Mammalia CPVL 33 34
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Cpvl 33
  • 79.32 (n)
mouse
(Mus musculus)
Mammalia Cpvl 33 16 34
  • 79.18 (n)
oppossum
(Monodelphis domestica)
Mammalia CPVL 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPVL 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CPVL 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpvl 33
  • 65.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22832 33
zebrafish
(Danio rerio)
Actinopterygii cpvl 33 34
  • 62.79 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2569 33
fruit fly
(Drosophila melanogaster)
Insecta CG4572 35 33 34
  • 53.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007505 33
  • 53.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 21 (a)
ManyToMany
PRC1 34
  • 20 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons scpl50 33
  • 48 (n)
rice
(Oryza sativa)
Liliopsida Os01g0215100 33
  • 45.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
CSA.11111 34
  • 16 (a)
ManyToMany
Species where no ortholog for CPVL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CPVL Gene

ENSEMBL:
Gene Tree for CPVL (if available)
TreeFam:
Gene Tree for CPVL (if available)

Paralogs for CPVL Gene

Paralogs for CPVL Gene

genes like me logo Genes that share paralogs with CPVL: view

Variants for CPVL Gene

Sequence variations from dbSNP and Humsavar for CPVL Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000029828 -- 29,133,734(+) ATACC(A/C)AAGAA intron-variant
rs1000044601 -- 29,111,656(+) TCCCA(C/G)CACAG intron-variant
rs1000153231 -- 29,010,056(+) AAACA(A/G)TATGT intron-variant, nc-transcript-variant
rs1000232343 -- 29,123,829(+) CCAGG(A/G)TAGTT intron-variant, upstream-variant-2KB
rs1000262586 -- 29,059,426(+) AACTC(C/T)GACAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525084 CNV loss 19592680
nsv1137205 CNV deletion 24896259
esv3612688 CNV loss 21293372
esv3612687 CNV loss 21293372
esv3612685 CNV loss 21293372
esv3612679 CNV loss 21293372
esv3450095 CNV insertion 20981092
esv3424078 CNV insertion 20981092
esv3363043 CNV insertion 20981092
esv3305886 CNV mobile element insertion 20981092
esv2734181 CNV deletion 23290073
esv2734180 CNV deletion 23290073
esv2734179 CNV deletion 23290073
esv2173744 CNV deletion 18987734

Variation tolerance for CPVL Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.58; 95.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPVL Gene

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

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

Disorders for CPVL Gene

MalaCards: The human disease database

(4) MalaCards diseases for CPVL Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
encephalomalacia
aspiration pneumonitis
  • chemical pneumonitis
periventricular leukomalacia
  • pvl
exudative vitreoretinopathy 1
  • retinopathy of prematurity
- elite association - COSMIC cancer census association via MalaCards
Search CPVL in MalaCards View complete list of genes associated with diseases

Relevant External Links for CPVL

Genetic Association Database (GAD)
CPVL
Human Genome Epidemiology (HuGE) Navigator
CPVL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CPVL
genes like me logo Genes that share disorders with CPVL: view

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

Publications for CPVL Gene

  1. Cloning and characterization of CPVL, a novel serine carboxypeptidase, from human macrophages. (PMID: 11401439) Mahoney JA … McKnight AJ (Genomics 2001) 2 3 4 22 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. (PMID: 20460425) Maeda S … Nakamura Y (Diabetes 2010) 3 45 60
  4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 45 60
  5. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PMID: 17903298) Meigs JB … Dupuis J (BMC medical genetics 2007) 3 45 60

Products for CPVL Gene

Sources for CPVL Gene

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