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Aliases for CLVS1 Gene

Aliases for CLVS1 Gene

  • Clavesin 1 2 3 5
  • Clathrin Vesicle-Associated Sec14 Protein 1 3 4
  • Retinaldehyde-Binding Protein 1-Like 1 3 4
  • RLBP1L1 3 4
  • CRALBPL 3 4
  • Cellular Retinaldehyde-Binding Protein-Like 4
  • Retinaldehyde Binding Protein 1-Like 1 2
  • Clavesin-1 3
  • C6orf212L 3

External Ids for CLVS1 Gene

Previous HGNC Symbols for CLVS1 Gene

  • RLBP1L1

Previous GeneCards Identifiers for CLVS1 Gene

  • GC08P062365
  • GC08P062201
  • GC08P057689
  • GC08P061969
  • GC08P061057

Summaries for CLVS1 Gene

GeneCards Summary for CLVS1 Gene

CLVS1 (Clavesin 1) is a Protein Coding gene. Among its related pathways are Ectoderm Differentiation and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include transporter activity and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is CLVS2.

UniProtKB/Swiss-Prot for CLVS1 Gene

  • Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).

Additional gene information for CLVS1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLVS1 Gene

Genomics for CLVS1 Gene

GeneHancer (GH) Regulatory Elements for CLVS1 Gene

Promoters and enhancers for CLVS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I060967 Promoter/Enhancer 1 Ensembl ENCODE 550.8 +1.3 1268 1 CTCF POLR2A ZBED1 ZNF407 CLVS1 LOC100130298
GH08I061287 Promoter 0.9 EPDnew 550.1 +321.5 321513 0.1 MXI1 MXD4 REST KMT2B ZNF48 KAT8 SP1 ZNF766 CTBP1 POLR2A CLVS1 ENSG00000254222 PIR40131
GH08I060964 Enhancer 0.2 ENCODE 550.8 -1.2 -1225 0.8 CLVS1 NASPP1 ENSG00000254777
GH08I060908 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -53.2 -53176 10.3 HDGF PKNOX1 SMAD1 FEZF1 IRF4 ZNF766 ZNF207 ZNF143 FOS SP3 CHD7 ENSG00000254432 CLVS1 RAB2A LOC105375938 ENSG00000254777 NASPP1
GH08I060650 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 10.4 -313.9 -313851 3.6 PKNOX1 CLOCK ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ENSG00000254869 CHD7 RAB2A CLVS1 ENSG00000255321 CA8 ENSG00000228862
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLVS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CLVS1 Gene

Genomic Locations for CLVS1 Gene
535,208 bases
Plus strand

Genomic View for CLVS1 Gene

Genes around CLVS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLVS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLVS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLVS1 Gene

Proteins for CLVS1 Gene

  • Protein details for CLVS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R7M5
    • C8UZT3
    • Q8NB32

    Protein attributes for CLVS1 Gene

    354 amino acids
    Molecular mass:
    40788 Da
    Quaternary structure:
    • Forms a complex with clathrin heavy chain and gamma-adaptin.
    • Binding to PtdIns(3,5)P2 is not required for localization.

    Alternative splice isoforms for CLVS1 Gene


neXtProt entry for CLVS1 Gene

Post-translational modifications for CLVS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLVS1 Gene

Domains & Families for CLVS1 Gene

Gene Families for CLVS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CLVS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.
  • The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.
genes like me logo Genes that share domains with CLVS1: view

Function for CLVS1 Gene

Molecular function for CLVS1 Gene

UniProtKB/Swiss-Prot Function:
Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).

Phenotypes From GWAS Catalog for CLVS1 Gene

Gene Ontology (GO) - Molecular Function for CLVS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA,IEA 19651769
genes like me logo Genes that share ontologies with CLVS1: view
genes like me logo Genes that share phenotypes with CLVS1: view

Animal Models for CLVS1 Gene

MGI Knock Outs for CLVS1:

Animal Model Products

miRNA for CLVS1 Gene

miRTarBase miRNAs that target CLVS1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CLVS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLVS1 Gene

Localization for CLVS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLVS1 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle. Early endosome membrane; Peripheral membrane protein.

Subcellular locations from

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 CLVS1 gene
Compartment Confidence
golgi apparatus 5
endosome 5
cytosol 3
peroxisome 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CLVS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 19651769
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IEA,ISS --
GO:0016020 membrane IEA --
GO:0030136 clathrin-coated vesicle ISS,IEA --
genes like me logo Genes that share ontologies with CLVS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLVS1 Gene

Pathways & Interactions for CLVS1 Gene

genes like me logo Genes that share pathways with CLVS1: view

Pathways by source for CLVS1 Gene

Gene Ontology (GO) - Biological Process for CLVS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007040 lysosome organization IEA,ISS --
genes like me logo Genes that share ontologies with CLVS1: view

No data available for SIGNOR curated interactions for CLVS1 Gene

Drugs & Compounds for CLVS1 Gene

No Compound Related Data Available

Transcripts for CLVS1 Gene

Unigene Clusters for CLVS1 Gene

Clavesin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CLVS1

Alternative Splicing Database (ASD) splice patterns (SP) for CLVS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: - - -
SP2: -
SP5: -

Relevant External Links for CLVS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CLVS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLVS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLVS1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.5), Brain - Frontal Cortex (BA9) (x5.1), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for CLVS1 Gene

This gene is overexpressed in Frontal cortex (53.3) and Fetal Brain (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLVS1 Gene

Protein tissue co-expression partners for CLVS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLVS1 Gene:


SOURCE GeneReport for Unigene cluster for CLVS1 Gene:


mRNA Expression by UniProt/SwissProt for CLVS1 Gene:

Tissue specificity: Expressed mainly in the brain.

Evidence on tissue expression from TISSUES for CLVS1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with CLVS1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CLVS1 Gene

Orthologs for CLVS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLVS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CLVS1 33 34
  • 99.62 (n)
(Monodelphis domestica)
Mammalia CLVS1 34
  • 96 (a)
(Bos Taurus)
Mammalia CLVS1 33 34
  • 93.5 (n)
(Canis familiaris)
Mammalia CLVS1 33 34
  • 93.41 (n)
(Rattus norvegicus)
Mammalia Clvs1 33
  • 90.77 (n)
(Mus musculus)
Mammalia Clvs1 33 16 34
  • 89.55 (n)
(Ornithorhynchus anatinus)
Mammalia CLVS1 34
  • 73 (a)
(Gallus gallus)
Aves CLVS1 33 34
  • 85.44 (n)
(Anolis carolinensis)
Reptilia CLVS1 34
  • 95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10657 34
  • 28 (a)
CG33966 34
  • 24 (a)
CG12926 34
  • 23 (a)
CG2663 34
  • 23 (a)
CG30339 34
  • 23 (a)
Cralbp 34
  • 23 (a)
CG1902 34
  • 21 (a)
CG31636 34
  • 21 (a)
CG33514 34
  • 21 (a)
CG10300 34
  • 20 (a)
pinta 34
  • 20 (a)
CG11550 34
  • 19 (a)
CG3823 34
  • 19 (a)
CG10301 34
  • 18 (a)
CG3191 34
  • 18 (a)
CG33965 34
  • 18 (a)
CG3091 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
Species where no ortholog for CLVS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CLVS1 Gene

Gene Tree for CLVS1 (if available)
Gene Tree for CLVS1 (if available)

Paralogs for CLVS1 Gene

Paralogs for CLVS1 Gene

(5) SIMAP similar genes for CLVS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CLVS1: view

Variants for CLVS1 Gene

Sequence variations from dbSNP and Humsavar for CLVS1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000003355 -- 61,367,708(+) T/A intron_variant
rs1000025489 -- 61,389,122(+) A/G intron_variant
rs1000028358 -- 61,247,775(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000031768 -- 61,258,417(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000038862 -- 61,452,458(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CLVS1 Gene

Variant ID Type Subtype PubMed ID
dgv184e180 CNV gain 20482838
esv1001731 CNV insertion 20482838
esv23432 CNV gain 19812545
esv2761429 CNV gain 21179565
esv3414209 CNV insertion 20981092
esv3576579 CNV gain 25503493
esv3617383 CNV gain 21293372
esv3617384 CNV loss 21293372
esv3617386 CNV loss 21293372
esv3617388 CNV loss 21293372
esv3617389 CNV gain 21293372
esv3617390 CNV gain 21293372
esv7324 CNV gain 19470904
esv987877 CNV insertion 20482838
esv992867 CNV insertion 20482838
nsv1029046 CNV gain 25217958
nsv1125317 OTHER inversion 24896259
nsv476325 CNV novel sequence insertion 20440878
nsv521898 CNV gain 19592680
nsv523363 CNV loss 19592680
nsv6223 CNV deletion 18451855
nsv831336 CNV gain 17160897

Variation tolerance for CLVS1 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLVS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLVS1 Gene

Disorders for CLVS1 Gene

Additional Disease Information for CLVS1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CLVS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLVS1 Gene

Publications for CLVS1 Gene

  1. The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology. (PMID: 19651769) Katoh Y … McPherson PS (The Journal of biological chemistry 2009) 2 3 4 58
  2. Cloning and characterization of a novel, human cellular retinaldehyde-binding protein CRALBP-like (CRALBPL) gene. (PMID: 16802092) Kong YH … Yu L (Biotechnology letters 2006) 2 3 4 58
  3. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney SJ … AddNeuroMed Consortium (Molecular psychiatry 2011) 3 44 58
  4. 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 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CLVS1 Gene

  • Addgene plasmids for CLVS1

Sources for CLVS1 Gene

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