Homo sapiens (human): 124590
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Entry
124590 CDS
T01001
Symbol
USH1G, ANKS4A, SANS
Name
(RefSeq) pre-mRNA splicing regulator USH1G isoform 1
KO
K21878
Usher syndrome type-1G protein
Organism
hsa
Homo sapiens (human)
Pathway
hsa04519
Cadherin signaling
Network
nt06549
Cadherin signaling
Element
N02007
Atypical cadherin interaction, CDH23
Disease
H00779
Usher syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09133 Signaling molecules and interaction
04519 Cadherin signaling
124590 (USH1G)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
124590 (USH1G)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
USH complex and associated proteins
124590 (USH1G)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
Ank_2
Ank_4
Ank
Ank_3
Ank_5
SAM_1
SAM_2
DUF2924
Motif
Other DBs
NCBI-GeneID:
124590
NCBI-ProteinID:
NP_775748
OMIM:
607696
HGNC:
16356
Ensembl:
ENSP00000480279.1
UniProt:
Q495M9
Structure
PDB
PDBj
LinkDB
All DBs
Position
17:complement(74916083..74923255)
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AA seq
461 aa
AA seq
DB search
MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDK
CDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSI
AAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSS
LTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQGGEGTFKVSEDGRKS
ARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTD
SGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSA
NSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALML
CSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL
NT seq
1386 nt
NT seq
+upstream
nt +downstream
nt
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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