KEGG   Homo sapiens (human): 23187
Entry
23187             CDS       T01001                                 
Symbol
PHLDB1, LL5A, LL5alpha, OI23
Name
(RefSeq) pleckstrin homology like domain family B member 1
  KO
K23794  pleckstrin homology-like domain family B
Organism
hsa  Homo sapiens (human)
Disease
H00506  Osteogenesis imperfecta
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    23187 (PHLDB1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Pleckstrin homology (PH) domain-containing proteins
  Other PH domain-containing proteins
   23187 (PHLDB1)
SSDB
Motif
Pfam: PH FHA PH_11 PH_8 WD40_alt
Other DBs
NCBI-GeneID: 23187
NCBI-ProteinID: NP_001138230
OMIM: 612834
HGNC: 23697
Ensembl: ENSG00000019144
UniProt: Q86UU1 Q6ZUD6 Q8NC75
Position
11:118606436..118658028
AA seq 1377 aa
MDALNRNQIGPGCQTQTMVQKGPLDLIETGKGLKVQTDKPHLVSLGSGRLSTAITLLPLE
EGRTVIGSAARDISLQGPGLAPEHCYIENLRGTLTLYPCGNACTIDGLPVRQPTRLTQGC
MLCLGQSTFLRFNHPAEAKWMKSMIPAGGRAPGPPYSPVPAESESLVNGNHTPQTATRGP
SACASHSSLVSSIEKDLQEIMDSLVLEEPGAAGKKPAATSPLSPMANGGRYLLSPPTSPG
AMSVGSSYENTSPAFSPLSSPASSGSCASHSPSGQEPGPSVPPLVPARSSSYHLALQPPQ
SRPSGARSESPRLSRKGGHERPPSPGLRGLLTDSPAATVLAEARRATESPRLGGQLPVVA
ISLSEYPASGALSQPTSIPGSPKFQPPVPAPRNKIGTLQDRPPSPFREPPGSERVLTTSP
SRQLVGRTFSDGLATRTLQPPESPRLGRRGLDSMRELPPLSPSLSRRALSPLPTRTTPDP
KLNREVAESPRPRRWAAHGASPEDFSLTLGARGRRTRSPSPTLGESLAPHKGSFSGRLSP
AYSLGSLTGASPCQSPCVQRKLSSGDLRVPVTRERKNSITEISDNEDDLLEYHRRQRQER
LREQEMERLERQRLETILNLCAEYSRADGGPEAGELPSIGEATAALALAGRRPSRGLAGA
SGRSSEEPGVATQRLWESMERSDEENLKEECSSTESTQQEHEDAPSTKLQGEVLALEEER
AQVLGHVEQLKVRVKELEQQLQESAREAEMERALLQGEREAERALLQKEQKAVDQLQEKL
VALETGIQKERDKEAEALETETKLFEDLEFQQLERESRVEEERELAGQGLLRSKAELLRS
IAKRKERLAILDSQAGQIRAQAVQESERLARDKNASLQLLQKEKEKLTVLERRYHSLTGG
RPFPKTTSTLKEMEKLLLPAVDLEQWYQELMAGLGTGPAAASPHSSPPPLPAKASRQLQV
YRSKMDGEATSPLPRTRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPR
NLAATLQDIETKRQLALQQKGQQVIEEQRRRLAELKQKAAAEAQCQWDALHGAAPFPAGP
SGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSLESSDSMETSISTGGNSACSPDNMSSA
SGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESAR
RQQLVEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCR
GYLVKMGGKIKSWKKRWFVFDRLKRTLSYYVDKHETKLKGVIYFQAIEEVYYDHLRSAAK
KRFFRFTMVTESPNPALTFCVKTHDRLYYMVAPSAEAMRIWMDVIVTGAEGYTQFMN
NT seq 4134 nt   +upstreamnt  +downstreamnt
atggacgctctcaataggaaccaaataggccctggatgccagacccagaccatggtgcag
aaaggacccttggacctgatcgagacaggcaaagggctgaaagtgcaaacggacaaaccc
cacctggtgagcctgggcagtgggcgactcagcacagccatcaccctcctgccgctggag
gaagggaggacggtgattggctctgcagccagagacatctcactacagggcccaggcctg
gctccagagcactgctacatcgagaacctgcggggcaccctcaccctctacccctgtggc
aatgcctgcactattgatgggctccctgtccggcagcctacccggctcactcagggctgc
atgttgtgcctgggtcagtccaccttccttcgctttaaccacccggctgaagccaagtgg
atgaaaagcatgattccagcagggggccgagcccctgggcccccctacagccctgttcct
gcagaatcagaaagtctggtaaatgggaaccacaccccacagactgcaacacggggaccc
tctgcctgtgccagccacagttccctggtgagctctattgagaaggacctgcaagagatc
atggactcactggtgctagaggagcctggagctgctggcaagaagcctgccgcaacctct
ccactgtcaccgatggctaatggtgggcgctacctgctgtctcccccaaccagccccggc
gccatgtctgtgggctccagctatgagaacacctctccagccttctctccactctcttca
ccagccagcagtggaagctgtgccagtcactcacccagtgggcaagagccaggaccttct
gtgcccccgctggtacctgcccgttcctccagctaccatctggccctacagcccccacag
tcccgcccaagtggtgctcgctccgagagtcctcggctgagcaggaaagggggccatgag
aggcctcccagccctggcctccggggtctgctgacagacagccctgcagctactgtcttg
gcggaggcccggagagccactgagagcccccggctgggtgggcagctgcctgtggtggcc
atcagcctgagtgaatacccagcttctggtgctctcagtcaacccaccagcattcctggc
agccccaagtttcagcctccagtccctgctccccgaaacaagattggcacactccaggac
cgccctcccagccctttccgtgagcctccaggcagtgagcgggtgctaacaaccagcccc
tcacgccaactggtgggccgaacattttcagatgggttagccacccgtaccctgcagcct
cctgagagtccccgcctgggccggcggggcctggacagtatgcgagaactacccccctta
agtccatctctgtcccggcgagctctctccccgctgcccacccggaccaccccagatccc
aagctaaacagggaagtggcagagagtcctcggccccggcgctgggcagcccatggggct
tcaccagaggacttctccctgacgctgggggcacggggccgtaggacacggagcccctca
cccacactgggtgagtctctggcaccccacaagggcagcttcagtggcaggctgagccca
gcctacagtctgggctctcttactggggcttcaccctgccagagtccctgtgtccagagg
aagctctccagcggggacttgcgggtgcctgtcacaagggagcggaaaaatagcatcaca
gagatcagtgacaatgaggacgacctcctggagtaccaccggcgacagcgccaagagcgg
ctccgggagcaggagatggagaggctggaacgccagcgcctggagaccatcctgaacctg
tgtgccgaatacagccgggctgatgggggacctgaggctggggagcttcccagcattggg
gaggccaccgcagcattggcactggcaggccggaggccctcacgaggccttgcaggggcc
tctgggcggagcagcgaggagcctggcgttgccacccaacgcctatgggagagtatggag
cgctcagatgaggaaaatctcaaggaggagtgcagcagcactgagagcacccagcaggag
cacgaagatgcacctagcaccaagctccagggagaggtgctagccctggaagaagagcgg
gctcaggtgctggggcacgtggagcagctcaaggtccgtgtgaaggagctagagcagcag
ctgcaggagtcagcccgagaggccgaaatggagcgggcactgctgcagggagagagggag
gcagagcgggcactgctgcagaaggagcagaaggcagtggatcagctgcaggagaagctg
gtggccttggagacaggcatccagaaggagagggacaaggaggcagaggccctggagact
gagacaaagctctttgaggacttggagttccagcagttggagcgggagagccgcgtggag
gaggagcgcgagctggccggccaggggctgctccggagcaaggctgagctgctccgcagc
atcgccaagaggaaggagcgcctggccatcctggacagtcaggctgggcagatccgggct
caggccgtgcaggaatcagaacgcctggcccgggacaagaatgcctccttacagctgctg
caaaaggagaaggagaagctgactgtgctggaaaggagataccactcactcacagggggc
aggcctttcccgaagaccacatcgaccctcaaagagatggagaagctgctgctccctgct
gtagacttagagcagtggtaccaggagctgatggccgggctggggactggccccgctgca
gcctcccctcactcttctcccccgcctctgcccgccaaagcttcccgtcagctgcaggtt
taccgctccaagatggatggcgaggccaccagcccccttccccggacccgcagcggcccc
ctcccctcctcctctggctcttcctcctcctcctcccagctcagcgtggctaccctgggg
cgtagcccctccccaaagagcgctctactcacccagaatggcacgggcagccttcctcgc
aacctggcagccacactgcaggacatcgagaccaagcgccaactagctctgcagcagaag
ggacaacaagtgattgaagagcagcggcggcgactggctgagctgaagcagaaagcggca
gctgaggcacagtgccagtgggatgcccttcacggggcagcacccttcccagcgggcccc
tcgggcttcccccctctcatgcaccactctatcctacaccacctgcctgcggggcgggag
cgtggggaggagggtgagcacgcctatgatacgctgagtctggagagctctgacagcatg
gagaccagcatctccaccgggggcaactcggcctgctcccctgacaacatgtccagcgcg
agtggtctggacatggggaagatcgaggagatggagaagatgctgaaagaggctcatgca
gagaagaaccggctcatggagtcgagggagcgggagatggagctgcggcggcaggccctg
gaggaggagcggcggaggcgtgagcaggtagaacggaggctgcagagtgagagtgcccgg
aggcagcagctggtcgagaaggaggtcaagatgcgggagaaacaattttcccaggcacga
cccctgacccgctacctgccaatccggaaggaggactttgacctgaagacacatattgag
tcatcgggccatggtgttgatacctgcctgcacgtggtgctcagcagcaaggtctgccgt
ggctacttggtcaagatgggcggcaagattaaatcatggaagaagcgctggtttgtcttc
gaccggctcaagcgcaccctttcctattatgtggacaagcatgagacgaagctgaaggga
gtcatctatttccaggccattgaggaagtgtactacgaccacctgcgcagtgcagccaag
aagaggtttttccgcttcactatggtgactgagagcccgaacccagccctcaccttctgc
gtaaagacccatgaccggctgtactacatggtggccccatctgcagaggccatgcgtatc
tggatggatgtcattgtcacaggggctgagggctacactcagttcatgaactaa

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