Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLVS1 Gene

Aliases for CLVS1 Gene

  • Clavesin 1 2 3
  • Retinaldehyde Binding Protein 1-Like 1 2 3
  • Retinaldehyde-Binding Protein 1-Like 1 3 4
  • RLBP1L1 3 4
  • CRALBPL 3 4
  • Cellular Retinaldehyde-Binding Protein-Like 4

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 Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include transporter activity and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is RLBP1.

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).

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

Genomics for CLVS1 Gene

Genomic Location for CLVS1 Gene

Chromosome:
8
Start:
60,966,438 bp from pter
End:
61,501,645 bp from pter
Size:
535,208 bases
Orientation:
Plus strand

Genomic View for CLVS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLVS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLVS1 Gene

No data available for Regulatory Elements for CLVS1 Gene

Proteins for CLVS1 Gene

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

    Protein Symbol:
    Q8IUQ0-CLVS1_HUMAN
    Recommended name:
    Clavesin-1
    Protein Accession:
    Q8IUQ0
    Secondary Accessions:
    • B2R7M5
    • C8UZT3
    • Q8NB32

    Protein attributes for CLVS1 Gene

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

    Alternative splice isoforms for CLVS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLVS1 Gene

Proteomics data for CLVS1 Gene at MOPED

Post-translational modifications for CLVS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLVS1 Gene

Antibody Products

No data available for DME Specific Peptides for CLVS1 Gene

Domains & Families for CLVS1 Gene

Suggested Antigen Peptide Sequences for CLVS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUQ0

UniProtKB/Swiss-Prot:

CLVS1_HUMAN :
  • The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.
Domain:
  • The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.
  • Contains 1 CRAL-TRIO domain.
genes like me logo Genes that share domains with CLVS1: view

No data available for Gene Families for CLVS1 Gene

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).

Gene Ontology (GO) - Molecular Function for CLVS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA 19651769
genes like me logo Genes that share ontologies with CLVS1: view
genes like me logo Genes that share phenotypes with CLVS1: view

Animal Model Products

miRNA for CLVS1 Gene

miRTarBase miRNAs that target CLVS1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLVS1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for CLVS1 Gene COMPARTMENTS Subcellular localization image for CLVS1 gene
Compartment Confidence
endosome 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for CLVS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 19651769
GO:0005802 trans-Golgi network ISS --
GO:0030136 clathrin-coated vesicle ISS --
GO:0030669 clathrin-coated endocytic vesicle membrane TAS --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with CLVS1: view

Pathways & Interactions for CLVS1 Gene

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

Interacting Proteins for CLVS1 Gene

Gene Ontology (GO) - Biological Process for CLVS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0007040 lysosome organization ISS --
GO:0061024 membrane organization TAS --
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLVS1

Flow Cytometry Products

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: -
SP3:
SP4:
SP5: -

Relevant External Links for CLVS1 Gene

GeneLoc Exon Structure for
CLVS1
ECgene alternative splicing isoforms for
CLVS1

Expression for CLVS1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CLVS1 Gene Hs.591874

mRNA Expression by UniProt/SwissProt for CLVS1 Gene

Q8IUQ0-CLVS1_HUMAN
Tissue specificity: Expressed mainly in the brain.
genes like me logo Genes that share expression patterns with CLVS1: view

Protein tissue co-expression partners for CLVS1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for CLVS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLVS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLVS1 35
  • 93.5 (n)
  • 97.74 (a)
CLVS1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLVS1 35
  • 93.41 (n)
  • 98.87 (a)
CLVS1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clvs1 35
  • 89.55 (n)
  • 97.18 (a)
Clvs1 16
Clvs1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLVS1 35
  • 99.62 (n)
  • 100 (a)
CLVS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clvs1 35
  • 90.77 (n)
  • 97.18 (a)
oppossum
(Monodelphis domestica)
Mammalia CLVS1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLVS1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLVS1 35
  • 85.44 (n)
  • 94.58 (a)
CLVS1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLVS1 36
  • 95 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10300 36
  • 20 (a)
ManyToMany
CG10301 36
  • 18 (a)
ManyToMany
CG10657 36
  • 28 (a)
ManyToMany
CG11550 36
  • 19 (a)
ManyToMany
CG12926 36
  • 23 (a)
ManyToMany
CG1902 36
  • 21 (a)
ManyToMany
CG2663 36
  • 23 (a)
ManyToMany
CG30339 36
  • 23 (a)
ManyToMany
CG3091 36
  • 16 (a)
ManyToMany
CG31636 36
  • 21 (a)
ManyToMany
CG3191 36
  • 18 (a)
ManyToMany
CG33514 36
  • 21 (a)
ManyToMany
CG33965 36
  • 18 (a)
ManyToMany
CG33966 36
  • 24 (a)
ManyToMany
CG3823 36
  • 19 (a)
ManyToMany
Cralbp 36
  • 23 (a)
ManyToMany
pinta 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
ManyToMany
Species with no ortholog for CLVS1:
  • 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

ENSEMBL:
Gene Tree for CLVS1 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs1998 -- 61,025,758(+) GATCC(A/G)GTGCC intron-variant
rs2444 -- 61,499,744(-) GGGGG(A/G)AAAAA utr-variant-3-prime
rs2445 -- 61,499,742(-) GGGAA(A/G)AAAAA utr-variant-3-prime
rs716683 -- 60,993,033(+) AAAGC(C/T)ACCTC intron-variant
rs720678 -- 61,003,211(+) GCATG(C/T)CCCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831336 CNV Gain 17160897
nsv523363 CNV Loss 19592680
esv7324 CNV Gain 19470904
nsv6223 CNV Loss 18451855
nsv521898 CNV Gain 19592680
esv987877 CNV Insertion 20482838
esv23432 CNV Gain 19812545
dgv184e180 CNV Gain 20482838
esv992867 CNV Insertion 20482838
esv1001731 CNV Insertion 20482838

Variation tolerance for CLVS1 Gene

Residual Variation Intolerance Score: 17.88% 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)

Relevant External Links for CLVS1 Gene

HapMap Linkage Disequilibrium report
CLVS1

PCR Panel Products

  • Copy Number PCR Panels: for CLVS1

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

Disorders for CLVS1 Gene

Relevant External Links for CLVS1

Genetic Association Database (GAD)
CLVS1
Human Genome Epidemiology (HuGE) Navigator
CLVS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLVS1
genes like me logo Genes that share disorders with CLVS1: view

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 P.S. (J. Biol. Chem. 2009) 2 67
  2. Cloning and characterization of a novel, human cellular retinaldehyde-binding protein CRALBP-like (CRALBPL) gene. (PMID: 16802092) Kong Y.-H. … Yu L. (Biotechnol. Lett. 2006) 2 67
  3. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 24823311) Guan W. … Steffen L.M. (Circ Cardiovasc Genet 2014) 67
  4. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney S.J. … . (Mol. Psychiatry 2011) 67
  5. Image-based genome-wide siRNA screen identifies selective autophagy factors. (PMID: 22020285) Orvedahl A. … Levine B. (Nature 2011) 67

Products for CLVS1 Gene

Sources for CLVS1 Gene

Back to Top

Content