KEGG   Homo sapiens (human): 25861
Entry
25861             CDS       T01001                                 
Symbol
WHRN, CIP98, DFNB31, PDZD7B, USH2D, WI
Name
(RefSeq) whirlin
  KO
K21879  whirlin
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
H00779  Usher syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    25861 (WHRN)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  USH complex and associated proteins
   25861 (WHRN)
SSDB
Motif
Pfam: PDZ PDZ_6 PDZ_2 CCM2_C USH1C_N
Other DBs
NCBI-GeneID: 25861
NCBI-ProteinID: NP_056219
OMIM: 607928
HGNC: 16361
Ensembl: ENSG00000095397
UniProt: Q9P202 B9EGE6
Structure
Position
9:complement(114402080..114505473)
AA seq 907 aa
MNAPLDGLSVSSSSTGSLGSAAGAGGGGGAGLRLLSANVRQLHQALTALLSEAEREQFTH
CLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATT
PYRQPAWGGPDSAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKE
GLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQ
GRSISPPSGLPQPHGGALRQQEGDRRSTLHLLQGGDEKKVNLVLGDGRSLGLTIRGGAEY
GLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSRHLILTVKDVG
RLPHARTTVDETKWIASSRIRETMANSAGFLGDLTTEGINKPGFYKGPAGSQVTLSSLGN
QTRVLLEEQARHLLNEQEHATMAYYLDEYRGGSVSVEALVMALFKLLNTHAKFSLLSEVR
GTISPQDLERFDHLVLRREIESMKARQPPGPGAGDTYSMVSYSDTGSSTGSHGTSTTVSS
ARNTLDLEETGEAVQGNINALPDVSVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPR
KLGREDLQPPSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPS
SKRPLDAHLALVNQHPIGPFPRVQSPPHLKSPSAEATVAGGCLLPPSPSGHPDQTGTNQH
FVMVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGEAEASAPGRGR
QSVSTKSRSSKELPRNERPTDGANKPPGLLEPTSTLVRVKKSAATLGIAIEGGANTRQPL
PRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLV
TEFNVML
NT seq 2724 nt   +upstreamnt  +downstreamnt
atgaacgcgccgctggacggcctgtcggtgagctcgtcctccaccggctcgctgggctcg
gcggccggggcgggcggcggcgggggcgcggggctgcggttactgtctgccaacgtgcgc
cagctgcaccaagcgctgaccgcgctgctgagcgaggcggagcgggagcagttcacccac
tgcctgaacgcttaccacgcgcgccgcaacgtcttcgacctggtgcgcaccctgcgcgtg
ctgctggacagtccggtcaagcggcgcctgctgcccatgcttcgtctggtcatcccgcgc
tccgaccagctgctcttcgaccaatacacggccgagggcctctacctgcccgccaccacc
ccctacaggcagcccgcctggggcggccccgacagcgcggggccaggggaggtgcgcctg
gtgagtttgcggcgtgccaaggcccacgagggcttgggcttcagcatccgtgggggctcg
gagcacggcgtgggcatctacgtgtctctggtggaaccaggctctctagctgagaaggaa
ggactgcgggtcggggaccagattctgcgcgtcaacgacaaatccctggcccgggtgacc
cacgcggaggccgtcaaggctctgaagggctccaagaagctggtgctgtctgtgtactca
gcagggcgcatccctgggggctacgtcaccaaccacatctacacctgggtggacccgcag
ggccgcagcatctccccaccctcgggcctgccccagccccacggtggtgccctgaggcag
caggagggtgaccggaggagcaccctgcacctcctgcaaggaggggatgagaaaaaggtg
aacctggtgctgggggacggccggtccctgggcctcacgatccgtgggggagctgagtac
ggccttggcatttacatcactggcgtggacccaggctctgaagcagaaggcagcgggctc
aaggttggggaccagattctagaagtgaatgggcggagctttctcaacatcctacacgac
gaggctgtcaggctgcttaagtcatctcggcacctcatcctgacagtgaaggacgtcggg
aggctgccccatgcccgcaccactgtggacgagaccaagtggatcgccagttcccggatc
agggagaccatggcgaactcggcagggtttcttggcgatctcacaacagaaggaataaac
aagccaggattttacaagggcccagccggctcccaggtgaccctgagcagcctggggaac
cagacacgagtgctgctggaggagcaggctcggcacctgctgaacgagcaggaacacgcc
accatggcctactacctggatgagtaccgtggtggcagcgtctctgtggaggccctcgtc
atggccctgttcaagctgctcaacacccacgccaagttctcactcctctctgaggtgaga
ggcaccatttccccgcaagacctagaacgcttcgaccacctggtgctgaggcgtgagatt
gagtccatgaaggcgcggcagcccccaggccccggggctggggacacctactccatggtc
tcctacagtgacacgggttcatccacaggcagccacggcacctccaccaccgtcagctcg
gccaggaacactctggacctggaggaaactggcgaggctgtccagggcaatatcaacgcc
ctcccagatgtgtccgtggatgatgtcagatccacctcccaggggctgtcaagcttcaag
ccactgcctcgcccaccacctctggcccaaggcaacgacctcccactaggccagccaagg
aagctggggagagaggacctccagccaccttcctccatgccttcctgctcgggcactgtc
ttctcggctccacagaaccgcagcccgccagcgggcaccgcacccaccccagggacctcc
tctgcacaggacttgccctcttcccccatctatgcctccgtctcccctgccaaccccagc
tccaagaggccgctggacgcccatctggccctggtcaaccaacaccccatcggccccttc
ccacgggtccagtcacccccgcacctgaaaagcccctctgcagaggccacagtggctggg
ggctgccttctgcccccatcaccctctggccacccagaccagacaggcacaaaccagcac
tttgtcatggtggaggtccaccgccccgacagcgagccagacgtcaatgaagtgagggcg
ctgccccagacgcgcacagcctctacgctctcccagctctcggacagcgggcagactcta
agcgaggacagtggtgtggatgctggcgaggcagaggccagcgccccaggccgaggaagg
cagtcggtgtccaccaagagcaggagtagcaaggagctgcctcggaacgagaggcccaca
gatggggccaacaaaccgcctggacttctggagcccacgtccactctggtccgtgtgaag
aaaagtgcggccaccctgggcatcgccatcgagggtggcgccaacacccgccagcccctg
cctaggattgtcactattcagagaggcggctcagctcacaactgtgggcagctcaaggtg
ggccacgtgattctggaagtgaatgggctgacgcttcggggcaaggagcaccgggaggcc
gcccgcattatcgccgaggccttcaagactaaggaccgtgactacattgactttctggtc
actgagttcaatgtgatgctctag

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