Homo sapiens (human): 286676
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Entry
286676 CDS
T01001
Symbol
ILDR1, DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
Name
(RefSeq) immunoglobulin like domain containing receptor 1
KO
K25781
immunoglobulin-like domain-containing receptor 1
Organism
hsa
Homo sapiens (human)
Disease
H00605
Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03041 Spliceosome [BR:
hsa03041
]
286676 (ILDR1)
Spliceosome [BR:
hsa03041
]
Other splicing related proteins
Spliceosome associated proteins (SAPs)
SR-related proteins
286676 (ILDR1)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
LSR
V-set
Motif
Other DBs
NCBI-GeneID:
286676
NCBI-ProteinID:
NP_001186728
OMIM:
609739
HGNC:
28741
Ensembl:
ENSG00000145103
UniProt:
Q86SU0
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Position
3:complement(121987323..122061655)
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AA seq
546 aa
AA seq
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MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILKCDYTTSAQLQDVVVTW
RFKSFCKDPIFDYYSASYQAALSLGQDPSNDCNDNQREVRIVAQRRGQNEPVLGVDYRQR
KITIQNRADLVINEVMWWDHGVYYCTIEAPGDTSGDPDKEVKLIVLHWLTVIFIILGALL
LLLLIGVCWCQCCPQYCCCYIRCPCCPAHCCCPEEALARHRYMKQAQALGPQMMGKPLYW
GADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTTNQPPIANGVLEYLEKELRNLNLAQ
PLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPPLIRDLSSSRRTSDSLHQQWLTPIPSR
PWDLREGRSHHHYPDFHQELQDRGPKSWALERRELDPSWSGRHRSSRLNGSPIHWSDRDS
LSDVPSSSEARWRPSHPPFRSRCQERPRRPSPRESTQRHGRRRRHRSYSPPLPSGLSSWS
SEEDKERQPQSWRAHRRGSHSPHWPEEKPPSYRSLDITPGKNSRKKGSVERRSEKDSSHS
GRSVVI
NT seq
1641 nt
NT seq
+upstream
nt +downstream
nt
atggcatggcccaaactgcccgcaccttggctgctgctctgcacctggctcccagcaggg
tgcctgtccttgcttgtgacggtccagcacacagaacgctatgtcaccctgtttgcctct
atcatcctcaaatgtgactacaccacctctgcccagctccaggacgtggtggtgacatgg
cgcttcaagtccttctgcaaggaccctatctttgactactactcagcgtcataccaggca
gctttatccctgggccaggacccatccaatgactgcaacgacaaccagcgggaagttcgc
atagtggcccagcggcgggggcagaatgagcccgtgctgggggtagattaccggcagcgc
aagatcaccatccagaaccgagcagatctcgtgataaatgaagtgatgtggtgggaccat
ggagtgtattactgcaccattgaggctccaggggacacatcaggagaccccgataaggaa
gtaaagctcatcgtcctacactggctgacagtgatcttcatcatcctgggagccctcctc
ctcctgctgctgattggagtgtgctggtgccagtgctgtcctcagtattgctgctgctat
atccgctgtccctgctgtcctgcccactgctgctgtcctgaggaagccctggcccgccac
cgctacatgaagcaggcccaggccctaggtcctcagatgatgggaaaacccctgtactgg
ggggcggacaggagctcccaggtttcatcttatccaatgcacccgctgctgcagcgagat
ttgtccctgccgtccagcctcccgcagatgccaatgacccagaccaccaatcagcctccc
atcgccaatggtgtcctggagtatttggagaaagaactgcggaacctcaacctggcccag
cctctgccccctgacctcaaaggcagatttggccatccctgcagcatgctgtcctccctg
ggctctgaggtcgtggaacgcagaatcatccacctgcccccactgatcagagacctgtca
tcctcaaggaggaccagtgactccctgcaccagcagtggctcaccccaattccctccagg
ccctgggatctgagggaggggagaagccaccaccattaccctgatttccaccaggagctc
caggaccgggggccaaagtcttgggcattggaaagaagggagttggacccatcgtggagt
ggaaggcaccgtagctctaggctgaatgggtcacccatacactggtcagacagggacagc
ctaagcgatgtcccctcatccagtgaggcacgctggcggccgagccaccctcctttcagg
agccgctgtcaggagaggccccgcaggcccagcccccgggagagcactcagaggcacggg
agacgacgcaggcaccgcagctactctcctcccttgccctccggcctcagttcctggagc
tctgaagaggacaaggagaggcagccccagagctggcgggcccaccgccgcggctcgcac
tccccacactggcccgaggagaagccgcctagctaccgctcacttgatatcactccaggc
aagaatagcaggaaaaaagggagtgtggagaggcgctcggagaaagacagctctcatagt
ggaaggagtgtggtcatttag
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