KEGG   Homo sapiens (human): 124590Help
Entry
124590            CDS       T01001                                 

Gene name
USH1G, ANKS4A, SANS
Definition
(RefSeq) USH1 protein network component sans
  KO
K21878  Usher syndrome type-1G protein
Organism
hsa  Homo sapiens (human)
Disease
H00779  Usher syndrome (US)
Brite
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   USH complex and associated proteins
    124590 (USH1G)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ank_2 Ank_4 Ank Ank_5 Ank_3 SAM_1
Motif
Other DBs
NCBI-GeneID: 124590
NCBI-ProteinID: NP_775748
OMIM: 607696
HGNC: 16356
Ensembl: ENSG00000182040
Vega: OTTHUMG00000178864
Pharos: Q495M9(Tbio)
UniProt: Q495M9
Structure
PDB: 

Position
17q25.1
AA seq 461 aa AA seqDB search
MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDK
CDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSI
AAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSS
LTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQGGEGTFKVSEDGRKS
ARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTD
SGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSA
NSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALML
CSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL
NT seq 1386 nt NT seq  +upstreamnt  +downstreamnt
atgaacgaccagtaccaccgggcagcccgggatggctacctggagctcctcaaggaggcc
acccgaaaggagctgaatgcccccgacgaggatggcatgacccccactctctgggctgcc
taccatggcaacctcgagtcgctgcgtctcattgtgagccgcgggggtgacccggacaag
tgtgacatctggggcaacacacccctgcatctggcagcttccaatggccacttgcactgc
ctgtccttcctggtgtccttcggagccaacatctggtgcctagacaacgactaccacacg
ccgctggacatggctgccatgaagggccacatggaatgcgtgcgctacctggactccatc
gcggccaagcagagcagcctcaaccccaagctggtgggtaagctgaaggacaaggccttc
cgcgaggcggagcggcgcatccgcgagtgcgccaagctgcagcggaggcaccacgaacgc
atggagcggcgataccggcgcgagctggccgagcgttccgacaccctcagcttctccagc
ctcacgtccagcaccctgagccgccggctgcagcatctggcgctgggcagccacctgccg
tactctcaggccacgctgcacggcacggccaggggcaagaccaagatgcagaagaagctg
gagcggcgcaagcagggcggcgaaggcaccttcaaggtctccgaggatgggcgcaagagc
gcccgctcgctctcgggcctgcagctgggcagcgacgtgatgttcgtgcgccagggcacc
tacgccaatcccaaggagtggggccgagccccgctccgggacatgttcctctcggacgag
gacagcgtctcccgtgccacgctggcggccgagcctgcccactcggaggtcagcaccgac
tcaggccacgactccctgtttacccgccccggcctgggcaccatggtgttccgcagaaat
tacttgagcagtgggctgcacggactgggccgcgaggatgggggtctggatggggtggga
gcgccgcggggtcggctgcagagctcccccagcctggacgatgacagcctgggcagtgcc
aacagcctgcaggaccgcagctgtggggaggagctgccctgggatgagctcgatttaggc
ttggacgaggacctggagcccgagactagcccgctggagaccttcctggcctctctgcac
atggaggactttgccgccctcctgcggcaggagaagatcgacctcgaggctttgatgctg
tgctctgacctcgacctccgcagcatcagcgtcccactggggccccgaaagaagatcttg
ggggccgtgaggaggcggcggcaggcgatggagcgcccgccggccctggaggacacagag
ctataa

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