Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
157807
Gene name Gene Name - the full gene name approved by the HGNC.
Clavesin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLVS1
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf212L, CRALBPL, RLBP1L1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q12.2-q12.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024833 hsa-miR-215-5p Microarray 19074876
MIRT026360 hsa-miR-192-5p Microarray 19074876
MIRT898307 hsa-miR-4764-3p CLIP-seq
MIRT898308 hsa-miR-582-5p CLIP-seq
MIRT898309 hsa-miR-618 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IDA 19651769
GO:0005768 Component Endosome IEA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611292 23139 ENSG00000177182
Protein
UniProt ID Q8IUQ0
Protein name Clavesin-1 (Cellular retinaldehyde-binding protein-like) (Retinaldehyde-binding protein 1-like 1) (clathrin vesicle-associated Sec14 protein 1)
Protein function Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03765 CRAL_TRIO_N 23 96 CRAL/TRIO, N-terminal domain Domain
PF00650 CRAL_TRIO 120 274 CRAL/TRIO domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in the brain. {ECO:0000269|PubMed:16802092}.
Sequence
Sequence length 354
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Lysosome Vesicle Biogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS