Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
58473
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology domain containing B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHB1
Synonyms (NCBI Gene) Gene synonyms aliases
KPL1, PHR1, PHRET1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.4
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017412 hsa-miR-335-5p Microarray 18185580
MIRT021332 hsa-miR-9-5p Microarray 17612493
MIRT022411 hsa-miR-124-3p Microarray 18668037
MIRT025679 hsa-miR-7-5p Microarray 17612493
MIRT049007 hsa-miR-92a-3p CLASH 23622248
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 24705354, 25416956, 25814554, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0007602 Process Phototransduction NAS 10585447
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IDA 10585447
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607651 19079 ENSG00000021300
Protein
UniProt ID Q9UF11
Protein name Pleckstrin homology domain-containing family B member 1 (PH domain-containing family B member 1) (Evectin-1) (PH domain-containing protein in retina 1) (PHRET1) (Pleckstrin homology domain retinal protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 22 128 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested. {ECO:0000269|PubMed:10585447}.
Sequence
MSPAAPVPPDSALESPFEEMALVRGGWLWRQSSILRRWKRNWFALWLDGTLGYYHDETAQ
DEEDRVLIHFNVRDIKIGPECHDVQPPEGRSRDGLLTVNLREGGRLHLCAETKDDALAWK
TALLEANS
TPAPAGATVPPRSRRVCSKVRCVTRSWSPCKVERRIWVRVYSPYQDYYEVVP
PNAHEATYVRSYYGPPYAGPGVTHVIVREDPCYSAGAPLAMGMLAGAATGAALGSLMWSP
CWF
Sequence length 243
Interactions View interactions
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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
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bladder Exstrophy Associate 37509153
Osteoporosis Associate 32496000