KEGG   Homo sapiens (human): 286676
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)
SSDB
Motif
Pfam: LSR V-set
Other DBs
NCBI-GeneID: 286676
NCBI-ProteinID: NP_001186728
OMIM: 609739
HGNC: 28741
Ensembl: ENSG00000145103
UniProt: Q86SU0
Position
3:complement(121987323..122061655)
AA seq 546 aa
MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILKCDYTTSAQLQDVVVTW
RFKSFCKDPIFDYYSASYQAALSLGQDPSNDCNDNQREVRIVAQRRGQNEPVLGVDYRQR
KITIQNRADLVINEVMWWDHGVYYCTIEAPGDTSGDPDKEVKLIVLHWLTVIFIILGALL
LLLLIGVCWCQCCPQYCCCYIRCPCCPAHCCCPEEALARHRYMKQAQALGPQMMGKPLYW
GADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTTNQPPIANGVLEYLEKELRNLNLAQ
PLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPPLIRDLSSSRRTSDSLHQQWLTPIPSR
PWDLREGRSHHHYPDFHQELQDRGPKSWALERRELDPSWSGRHRSSRLNGSPIHWSDRDS
LSDVPSSSEARWRPSHPPFRSRCQERPRRPSPRESTQRHGRRRRHRSYSPPLPSGLSSWS
SEEDKERQPQSWRAHRRGSHSPHWPEEKPPSYRSLDITPGKNSRKKGSVERRSEKDSSHS
GRSVVI
NT seq 1641 nt   +upstreamnt  +downstreamnt
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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