Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612834 23697 ENSG00000019144
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
KRFFRFTMVTESPNPALTFCVKTHDRLYYMVAPSAEAMRIWMDVIVTGA
EGYTQFMN
Sequence length 1377
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Osteogenesis imperfecta, type 23 Pathogenic rs2499526690, rs2499665135 RCV003444535
RCV003444536
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bardet-Biedl syndrome Uncertain significance rs2298484 RCV003224788
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 20462933
Glioblastoma Associate 26156397
Glioma Associate 19578367, 20462933, 20847058, 21203894, 21356187, 23161787, 23280628, 23300798, 23361564, 23733245, 26610392, 36541697
Neoplasms Associate 20847058, 23733245, 33130899