PLEKHB1 (pleckstrin homology domain containing B1)

Gene

• Entrez ID: 58473
• Gene name: Pleckstrin homology domain containing B1
• Gene symbol: PLEKHB1
• Synonyms (NCBI Gene): KPL1, PHR1, PHRET1
• Chromosome: 11
• Chromosome location: 11q13.4

miRNA

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
MIRT1241413	hsa-miR-3591-5p	CLIP-seq
MIRT1241414	hsa-miR-4300	CLIP-seq
MIRT1241415	hsa-miR-4417	CLIP-seq
MIRT1241416	hsa-miR-4460	CLIP-seq
MIRT1241417	hsa-miR-4727-3p	CLIP-seq
MIRT1241418	hsa-miR-5095	CLIP-seq
MIRT1241419	hsa-miR-920	CLIP-seq
MIRT1241420	hsa-miR-939	CLIP-seq
MIRT2298202	hsa-miR-3158-3p	CLIP-seq
MIRT2298203	hsa-miR-3160-5p	CLIP-seq
MIRT2298204	hsa-miR-3652	CLIP-seq
MIRT2298205	hsa-miR-4430	CLIP-seq
MIRT2298206	hsa-miR-4446-3p	CLIP-seq
MIRT2298207	hsa-miR-4459	CLIP-seq
MIRT2298208	hsa-miR-4492	CLIP-seq
MIRT2298209	hsa-miR-4498	CLIP-seq
MIRT2298210	hsa-miR-615-5p	CLIP-seq
MIRT2298211	hsa-miR-665	CLIP-seq
MIRT2298212	hsa-miR-762	CLIP-seq
MIRT2298202	hsa-miR-3158-3p	CLIP-seq
MIRT2298203	hsa-miR-3160-5p	CLIP-seq
MIRT2298204	hsa-miR-3652	CLIP-seq
MIRT2298205	hsa-miR-4430	CLIP-seq
MIRT2298206	hsa-miR-4446-3p	CLIP-seq
MIRT2298208	hsa-miR-4492	CLIP-seq
MIRT2298209	hsa-miR-4498	CLIP-seq
MIRT2298212	hsa-miR-762	CLIP-seq
MIRT2465859	hsa-miR-4294	CLIP-seq
MIRT2298207	hsa-miR-4459	CLIP-seq
MIRT2298210	hsa-miR-615-5p	CLIP-seq
MIRT2298211	hsa-miR-665	CLIP-seq

Gene ontology (GO)

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
GO:0016020	Component	Membrane	IEA
GO:0045595	Process	Regulation of cell differentiation	IBA

Other IDs

• MIM: 607651
• HGNC: 19079
• e!Ensembl: 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
  TALLEANSTPAPAGATVPPRSRRVCSKVRCVTRSWSPCKVERRIWVRVYSPYQDYYEVVP
  PNAHEATYVRSYYGPPYAGPGVTHVIVREDPCYSAGAPLAMGMLAGAATGAALGSLMWSP
  CWF

• Sequence length: 243

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Exstrophy	Bladder exstrophy	Pubtator	37509153	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10481942, 10971176, 7710953		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16314830		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16314830		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9446670		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10481942, 10971176, 7710953		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10971176, 11749701		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32496000	Associate	★☆☆☆☆ Found in Text Mining only