Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23187
Gene name	Pleckstrin homology like domain family B member 1
Gene symbol	PHLDB1
Synonyms (NCBI Gene)	LL5ALL5alphaOI23
Chromosome	11
Chromosome location	11q23.3

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040852	hsa-miR-18a-3p	CLASH	23622248
MIRT1232074	hsa-miR-296-5p	CLIP-seq
MIRT1232075	hsa-miR-4437	CLIP-seq
MIRT1232076	hsa-miR-4645-5p	CLIP-seq
MIRT1232077	hsa-miR-4673	CLIP-seq
MIRT1232078	hsa-miR-4742-5p	CLIP-seq
MIRT1232079	hsa-miR-661	CLIP-seq
MIRT1232080	hsa-miR-200b	CLIP-seq
MIRT1232081	hsa-miR-200c	CLIP-seq
MIRT1232082	hsa-miR-203	CLIP-seq
MIRT1232083	hsa-miR-3128	CLIP-seq
MIRT1232084	hsa-miR-3153	CLIP-seq
MIRT1232085	hsa-miR-3160-3p	CLIP-seq
MIRT1232086	hsa-miR-331-3p	CLIP-seq
MIRT1232087	hsa-miR-3665	CLIP-seq
MIRT1232088	hsa-miR-3934	CLIP-seq
MIRT1232089	hsa-miR-3936	CLIP-seq
MIRT1232090	hsa-miR-4273	CLIP-seq
MIRT1232091	hsa-miR-429	CLIP-seq
MIRT1232092	hsa-miR-4428	CLIP-seq
MIRT1232093	hsa-miR-4470	CLIP-seq
MIRT1232094	hsa-miR-4475	CLIP-seq
MIRT1232095	hsa-miR-4649-3p	CLIP-seq
MIRT1232096	hsa-miR-4677-5p	CLIP-seq
MIRT1232097	hsa-miR-4724-5p	CLIP-seq
MIRT1232098	hsa-miR-520d-5p	CLIP-seq
MIRT1232099	hsa-miR-524-5p	CLIP-seq
MIRT1232100	hsa-miR-548l	CLIP-seq
MIRT1232101	hsa-miR-548n	CLIP-seq
MIRT2068111	hsa-miR-4656	CLIP-seq
MIRT2068112	hsa-miR-4731-5p	CLIP-seq
MIRT2068113	hsa-miR-136	CLIP-seq
MIRT2068114	hsa-miR-143	CLIP-seq
MIRT2068115	hsa-miR-3135b	CLIP-seq
MIRT2068116	hsa-miR-4770	CLIP-seq
MIRT2295465	hsa-miR-3145-5p	CLIP-seq
MIRT2593100	hsa-miR-1291	CLIP-seq
MIRT2593101	hsa-miR-1909	CLIP-seq
MIRT2593102	hsa-miR-2278	CLIP-seq
MIRT1232074	hsa-miR-296-5p	CLIP-seq
MIRT2593103	hsa-miR-3117-5p	CLIP-seq
MIRT1232084	hsa-miR-3153	CLIP-seq
MIRT2593104	hsa-miR-3176	CLIP-seq
MIRT2593105	hsa-miR-3179	CLIP-seq
MIRT2593106	hsa-miR-326	CLIP-seq
MIRT2593107	hsa-miR-328	CLIP-seq
MIRT2593108	hsa-miR-330-5p	CLIP-seq
MIRT2593109	hsa-miR-3591-5p	CLIP-seq
MIRT2593110	hsa-miR-361-3p	CLIP-seq
MIRT2593111	hsa-miR-3689d	CLIP-seq
MIRT2593112	hsa-miR-3922-3p	CLIP-seq
MIRT2593113	hsa-miR-4255	CLIP-seq
MIRT2593114	hsa-miR-4417	CLIP-seq
MIRT1232092	hsa-miR-4428	CLIP-seq
MIRT1232075	hsa-miR-4437	CLIP-seq
MIRT1232094	hsa-miR-4475	CLIP-seq
MIRT2593115	hsa-miR-4533	CLIP-seq
MIRT1232076	hsa-miR-4645-5p	CLIP-seq
MIRT2593116	hsa-miR-4646-5p	CLIP-seq
MIRT2593117	hsa-miR-4649-5p	CLIP-seq
MIRT1232077	hsa-miR-4673	CLIP-seq
MIRT2068112	hsa-miR-4731-5p	CLIP-seq
MIRT1232078	hsa-miR-4742-5p	CLIP-seq
MIRT2593118	hsa-miR-4747-5p	CLIP-seq
MIRT2593119	hsa-miR-4780	CLIP-seq
MIRT2593120	hsa-miR-524-3p	CLIP-seq
MIRT2593121	hsa-miR-525-3p	CLIP-seq
MIRT2593122	hsa-miR-541	CLIP-seq
MIRT2593123	hsa-miR-548ag	CLIP-seq
MIRT2593124	hsa-miR-548ai	CLIP-seq
MIRT1232100	hsa-miR-548l	CLIP-seq
MIRT1232101	hsa-miR-548n	CLIP-seq
MIRT2593125	hsa-miR-570	CLIP-seq
MIRT2593126	hsa-miR-654-5p	CLIP-seq
MIRT1232079	hsa-miR-661	CLIP-seq
MIRT2687848	hsa-miR-1207-3p	CLIP-seq
MIRT2593100	hsa-miR-1291	CLIP-seq
MIRT2593101	hsa-miR-1909	CLIP-seq
MIRT2593102	hsa-miR-2278	CLIP-seq
MIRT1232074	hsa-miR-296-5p	CLIP-seq
MIRT2593103	hsa-miR-3117-5p	CLIP-seq
MIRT2068115	hsa-miR-3135b	CLIP-seq
MIRT2593104	hsa-miR-3176	CLIP-seq
MIRT2593106	hsa-miR-326	CLIP-seq
MIRT2593107	hsa-miR-328	CLIP-seq
MIRT2593108	hsa-miR-330-5p	CLIP-seq
MIRT2593109	hsa-miR-3591-5p	CLIP-seq
MIRT2687849	hsa-miR-3612	CLIP-seq
MIRT2593110	hsa-miR-361-3p	CLIP-seq
MIRT2593111	hsa-miR-3689d	CLIP-seq
MIRT2593112	hsa-miR-3922-3p	CLIP-seq
MIRT2593113	hsa-miR-4255	CLIP-seq
MIRT2593114	hsa-miR-4417	CLIP-seq
MIRT1232092	hsa-miR-4428	CLIP-seq
MIRT1232075	hsa-miR-4437	CLIP-seq
MIRT2687850	hsa-miR-4443	CLIP-seq
MIRT2593115	hsa-miR-4533	CLIP-seq
MIRT1232076	hsa-miR-4645-5p	CLIP-seq
MIRT2593116	hsa-miR-4646-5p	CLIP-seq
MIRT1232077	hsa-miR-4673	CLIP-seq
MIRT2687851	hsa-miR-4691-5p	CLIP-seq
MIRT2068112	hsa-miR-4731-5p	CLIP-seq
MIRT1232078	hsa-miR-4742-5p	CLIP-seq
MIRT2593118	hsa-miR-4747-5p	CLIP-seq
MIRT2593119	hsa-miR-4780	CLIP-seq
MIRT2593120	hsa-miR-524-3p	CLIP-seq
MIRT2593121	hsa-miR-525-3p	CLIP-seq
MIRT2593122	hsa-miR-541	CLIP-seq
MIRT2593125	hsa-miR-570	CLIP-seq
MIRT2687852	hsa-miR-650	CLIP-seq
MIRT2593126	hsa-miR-654-5p	CLIP-seq
MIRT1232079	hsa-miR-661	CLIP-seq

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21653829, 39251607
GO:0045180	Component	Basal cortex	IBA
GO:0045180	Component	Basal cortex	IDA	23940118
GO:0071711	Process	Basement membrane organization	IGI	23940118
GO:0071711	Process	Basement membrane organization	IMP	23940118

MIM	HGNC	e!Ensembl
612834	23697	ENSG00000019144

Q86UU1

Protein name

Pleckstrin homology-like domain family B member 1 (Protein LL5-alpha)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	1257 → 1369	PH domain	Domain

Sequence

MDALNRNQIGPGCQTQTMVQKGPLDLIETGKGLKVQTDKPHLVSLGSGRLSTAITLLPLE
EGRTVIGSAARDISLQGPGLAPEHCYIENLRGTLTLYPCGNACTIDGLPVRQPTRLTQGC
MLCLGQSTFLRFNHPAEAKWMKSMIPAGGRAPGPPYSPVPAESESLVNGNHTPQTATRGP
SACASHSSLVSSIEKDLQEIMDSLVLEEPGAAGKKPAATSPLSPMANGGRYLLSPPTSPG
AMSVGSSYENTSPAFSPLSSPASSGSCASHSPSGQEPGPSVPPLVPARSSSYHLALQPPQ
SRPSGARSESPRLSRKGGHERPPSPGLRGLLTDSPAATVLAEARRATESPRLGGQLPVVA
ISLSEYPASGALSQPTSIPGSPKFQPPVPAPRNKIGTLQDRPPSPFREPPGSERVLTTSP
SRQLVGRTFSDGLATRTLQPPESPRLGRRGLDSMRELPPLSPSLSRRALSPLPTRTTPDP
KLNREVAESPRPRRWAAHGASPEDFSLTLGARGRRTRSPSPTLGESLAPHKGSFSGRLSP
AYSLGSLTGASPCQSPCVQRKLSSGDLRVPVTRERKNSITEISDNEDDLLEYHRRQRQER
LREQEMERLERQRLETILNLCAEYSRADGGPEAGELPSIGEATAALALAGRRPSRGLAGA
SGRSSEEPGVATQRLWESMERSDEENLKEECSSTESTQQEHEDAPSTKLQGEVLALEEER
AQVLGHVEQLKVRVKELEQQLQESAREAEMERALLQGEREAERALLQKEQKAVDQLQEKL
VALETGIQKERDKEAEALETETKLFEDLEFQQLERESRVEEERELAGQGLLRSKAELLRS
IAKRKERLAILDSQAGQIRAQAVQESERLARDKNASLQLLQKEKEKLTVLERRYHSLTGG
RPFPKTTSTLKEMEKLLLPAVDLEQWYQELMAGLGTGPAAASPHSSPPPLPAKASRQLQV
YRSKMDGEATSPLPRTRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPR
NLAATLQDIETKRQLALQQKGQQVIEEQRRRLAELKQKAAAEAQCQWDALHGAAPFPAGP
SGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSLESSDSMETSISTGGNSACSPDNMSSA
SGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESAR
RQQLVEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCR
GYLVKMGGKIKSWKKRWFVFDRLKRTLSYYVDKHETKLKGVIYFQAIEEVYYDHLRSAAK
KRFFRFTMVTESPNPALTFCVKTHDRLYYMVAPSAEAMRIWMDVIVTGAEGYTQFMN

Sequence length

1377

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta, type 23	Pathogenic	rs2499526690, rs2499665135	RCV003444535 RCV003444536	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Bardet-Biedl syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XXIII	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	Pubtator	20462933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31215377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	25920553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	19578367, 21531791, 26424050, 28346443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21203894, 21350045, 26156397, 31721021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26156397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21203894, 21350045, 26156397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19578367, 20212223, 20462933, 20847058, 21350045, 21356187, 21825990, 22886559, 23161787, 23300798, 24935770, 25713050, 26610392, 28886307, 30868356, 31721021 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASCAT_DG	19578367, 21531791, 26424050, 28346443, 29743610, 30714141		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	19578367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASDB_DG	19578367, 21531791		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	19578367, 20462933, 20847058, 21203894, 21356187, 23161787, 23280628, 23300798, 23361564, 23733245, 26610392, 36541697	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30928649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24001599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	19578367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31215377		★★★★★ ★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	19578367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23161787, 28886307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28134081		★★★★★ ★☆☆☆☆ Found in Text Mining only

PHLDB1 (pleckstrin homology like domain family B member 1)