• Gene id: 23187

Gene Summary

• Gene Symbol: PHLDB1   Gene   UCSC   Ensembl
• Aliases: LL5A
• Gene name: pleckstrin homology like domain family B member 1
• Alternate names: pleckstrin homology-like domain family B member 1, LL5alpha, pleckstrin homology-like domain family B member 1 variant 3, pleckstrin homology-like domain family B member 1 variant 4, protein LL5-alpha,
• Gene location: 11q23.3 (118606295: 118658027)     Exons: 34     NC_000011.10
• OMIM: 612834

Protein Summary

• Protein general information: Q86UU1  
  • Name: Pleckstrin homology like domain family B member 1 (Protein LL5 alpha)
  • Length: 1377  
  • Mass: 151162
• Sequence:

  MDALNRNQIGPGCQTQTMVQKGPLDLIETGKGLKVQTDKPHLVSLGSGRLSTAITLLPLEEGRTVIGSAARDISL
  QGPGLAPEHCYIENLRGTLTLYPCGNACTIDGLPVRQPTRLTQGCMLCLGQSTFLRFNHPAEAKWMKSMIPAGGR
  APGPPYSPVPAESESLVNGNHTPQTATRGPSACASHSSLVSSIEKDLQEIMDSLVLEEPGAAGKKPAATSPLSPM
  ANGGRYLLSPPTSPGAMSVGSSYENTSPAFSPLSSPASSGSCASHSPSGQEPGPSVPPLVPARSSSYHLALQPPQ
  SRPSGARSESPRLSRKGGHERPPSPGLRGLLTDSPAATVLAEARRATESPRLGGQLPVVAISLSEYPASGALSQP
  TSIPGSPKFQPPVPAPRNKIGTLQDRPPSPFREPPGSERVLTTSPSRQLVGRTFSDGLATRTLQPPESPRLGRRG
  LDSMRELPPLSPSLSRRALSPLPTRTTPDPKLNREVAESPRPRRWAAHGASPEDFSLTLGARGRRTRSPSPTLGE
  SLAPHKGSFSGRLSPAYSLGSLTGASPCQSPCVQRKLSSGDLRVPVTRERKNSITEISDNEDDLLEYHRRQRQER
  LREQEMERLERQRLETILNLCAEYSRADGGPEAGELPSIGEATAALALAGRRPSRGLAGASGRSSEEPGVATQRL
  WESMERSDEENLKEECSSTESTQQEHEDAPSTKLQGEVLALEEERAQVLGHVEQLKVRVKELEQQLQESAREAEM
  ERALLQGEREAERALLQKEQKAVDQLQEKLVALETGIQKERDKEAEALETETKLFEDLEFQQLERESRVEEEREL
  AGQGLLRSKAELLRSIAKRKERLAILDSQAGQIRAQAVQESERLARDKNASLQLLQKEKEKLTVLERRYHSLTGG
  RPFPKTTSTLKEMEKLLLPAVDLEQWYQELMAGLGTGPAAASPHSSPPPLPAKASRQLQVYRSKMDGEATSPLPR
  TRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPRNLAATLQDIETKRQLALQQKGQQVIEEQRR
  RLAELKQKAAAEAQCQWDALHGAAPFPAGPSGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSLESSDSMETSIS
  TGGNSACSPDNMSSASGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESAR
  RQQLVEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCRGYLVKMGGKIKSWKK
  RWFVFDRLKRTLSYYVDKHETKLKGVIYFQAIEEVYYDHLRSAAKKRFFRFTMVTESPNPALTFCVKTHDRLYYM
  VAPSAEAMRIWMDVIVTGAEGYTQFMN

• Structural information:
  • Protein Domains: (64..12-)
    (/note="FHA-)
    (1256..137-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR000253  IPR011993  IPR001849  IPR037810  IPR008984  
  • Prosite: PS50003
  • CDD: cd00060 cd14673
  • STRING: ENSP00000354498
• Other Databases: GeneCards:  PHLDB1  Malacards:  PHLDB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045180	basal cortex	IBA	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IBA	biological process
GO:0045180	basal cortex	IDA	cellular component
GO:0010470	regulation of gastrulation	IMP	biological process
GO:0070507	regulation of microtubule cytoskeleton organization	IGI	biological process
GO:0010717	regulation of epithelial to mesenchymal transition	IMP	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IGI	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IGI	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq