KEGG   Homo sapiens (human): 57498
Entry
57498             CDS       T01001                                 
Symbol
KIDINS220, ARMS, SINO, VENARG
Name
(RefSeq) kinase D interacting substrate 220
  KO
K12460  ankyrin repeat-rich membrane spanning protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04722  Neurotrophin signaling pathway
Disease
H02776  Ventriculomegaly and arthrogryposis
H02777  Spastic paraplegia, intellectual disability, nystagmus, and obesity
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04722 Neurotrophin signaling pathway
    57498 (KIDINS220)
SSDB
Motif
Pfam: Ank_2 Ank KAP_NTPase Ank_4 Ank_3 Ank_5 SAM_KIDINS220 Ank_KRIT1 ANK_LRRK2 NPHP3_N SAM_1 NACHT
Other DBs
NCBI-GeneID: 57498
NCBI-ProteinID: NP_065789
OMIM: 615759
HGNC: 29508
Ensembl: ENSG00000134313
UniProt: Q9ULH0
Position
2:complement(8721081..8837613)
AA seq 1771 aa
MSVLISQSVINYVEEENIPALKALLEKCKDVDERNECGQTPLMIAAEQGNLEIVKELIKN
GANCNLEDLDNWTALISASKEGHVHIVEELLKCGVNLEHRDMGGWTALMWACYKGRTDVV
ELLLSHGANPSVTGLYSVYPIIWAAGRGHADIVHLLLQNGAKVNCSDKYGTTPLVWAARK
GHLECVKHLLAMGADVDQEGANSMTALIVAVKGGYTQSVKEILKRNPNVNLTDKDGNTAL
MIASKEGHTEIVQDLLDAGTYVNIPDRSGDTVLIGAVRGGHVEIVRALLQKYADIDIRGQ
DNKTALYWAVEKGNATMVRDILQCNPDTEICTKDGETPLIKATKMRNIEVVELLLDKGAK
VSAVDKKGDTPLHIAIRGRSRKLAELLLRNPKDGRLLYRPNKAGETPYNIDCSHQKSILT
QIFGARHLSPTETDGDMLGYDLYSSALADILSEPTMQPPICVGLYAQWGSGKSFLLKKLE
DEMKTFAGQQIEPLFQFSWLIVFLTLLLCGGLGLLFAFTVHPNLGIAVSLSFLALLYIFF
IVIYFGGRREGESWNWAWVLSTRLARHIGYLELLLKLMFVNPPELPEQTTKALPVRFLFT
DYNRLSSVGGETSLAEMIATLSDACEREFGFLATRLFRVFKTEDTQGKKKWKKTCCLPSF
VIFLFIIGCIISGITLLAIFRVDPKHLTVNAVLISIASVVGLAFVLNCRTWWQVLDSLLN
SQRKRLHNAASKLHKLKSEGFMKVLKCEVELMARMAKTIDSFTQNQTRLVVIIDGLDACE
QDKVLQMLDTVRVLFSKGPFIAIFASDPHIIIKAINQNLNSVLRDSNINGHDYMRNIVHL
PVFLNSRGLSNARKFLVTSATNGDVPCSDTTGIQEDADRRVSQNSLGEMTKLGSKTALNR
RDTYRRRQMQRTITRQMSFDLTKLLVTEDWFSDISPQTMRRLLNIVSVTGRLLRANQISF
NWDRLASWINLTEQWPYRTSWLILYLEETEGIPDQMTLKTIYERISKNIPTTKDVEPLLE
IDGDIRNFEVFLSSRTPVLVARDVKVFLPCTVNLDPKLREIIADVRAAREQISIGGLAYP
PLPLHEGPPRAPSGYSQPPSVCSSTSFNGPFAGGVVSPQPHSSYYSGMTGPQHPFYNRPF
FAPYLYTPRYYPGGSQHLISRPSVKTSLPRDQNNGLEVIKEDAAEGLSSPTDSSRGSGPA
PGPVVLLNSLNVDAVCEKLKQIEGLDQSMLPQYCTTIKKANINGRVLAQCNIDELKKEMN
MNFGDWHLFRSTVLEMRNAESHVVPEDPRFLSESSSGPAPHGEPARRASHNELPHTELSS
QTPYTLNFSFEELNTLGLDEGAPRHSNLSWQSQTRRTPSLSSLNSQDSSIEISKLTDKVQ
AEYRDAYREYIAQMSQLEGGPGSTTISGRSSPHSTYYMGQSSSGGSIHSNLEQEKGKDSE
PKPDDGRKSFLMKRGDVIDYSSSGVSTNDASPLDPITEEDEKSDQSGSKLLPGKKSSERS
SLFQTDLKLKGSGLRYQKLPSDEDESGTEESDNTPLLKDDKDRKAEGKVERVPKSPEHSA
EPIRTFIKAKEYLSDALLDKKDSSDSGVRSSESSPNHSLHNEVADDSQLEKANLIELEDD
SHSGKRGIPHSLSGLQDPIIARMSICSEDKKSPSECSLIASSPEENWPACQKAYNLNRTP
STVTLNNNSAPANRANQNFDEMEGIRETSQVILRPSSSPNPTTIQNENLKSMTHKRSQRS
SYTRLSKDPPELHAAASSESTGFGEERESIL
NT seq 5316 nt   +upstreamnt  +downstreamnt
atgtcagttttgatatcacagagcgtcataaattatgtagaggaagaaaacattcctgct
ctgaaagctcttcttgaaaaatgcaaagatgtagatgagagaaatgagtgtggccagact
ccactgatgatagctgccgaacaaggcaatctggaaatagtgaaggaattaattaagaat
ggagctaactgcaatctggaagatttggataattggacagcacttatatctgcatcgaaa
gaagggcatgtgcacatcgtagaggaactactgaaatgtggggttaacttggagcaccgt
gatatgggaggatggacagctcttatgtgggcatgttacaaaggccgtactgacgtagta
gagttgcttctttctcatggtgccaatccaagtgtcactggtctgtacagtgtttaccca
atcatttgggcagcagggagaggccatgcagatatagttcatcttttactgcaaaatggt
gctaaagtcaactgctctgataagtatggaaccacccctttagtttgggctgcacgaaag
ggtcatttggaatgtgtgaaacatttattggccatgggagctgatgtggatcaagaagga
gctaattcaatgactgcacttattgtggcagtgaaaggaggttacacacagtcagtaaaa
gaaattttgaagaggaatccaaatgtaaacttaacagataaagatggaaatacagctttg
atgattgcatcaaaggagggacatacggagattgtgcaggatctgctcgacgctggaaca
tatgtgaacatacctgacaggagtggggatactgtgttgattggcgctgtcagaggtggt
catgttgaaattgttcgagcgcttctccaaaaatatgctgatatagacattagaggacag
gataataaaactgctttgtattgggctgttgagaaaggaaatgcaacaatggtgagagat
atcttacagtgcaatcctgacactgaaatatgcacaaaggatggtgaaacgccacttata
aaggctaccaagatgagaaacattgaagtggtggagctgctgctagataaaggtgctaaa
gtgtctgctgtagataagaaaggagatactcccttgcatattgctattcgtggaaggagc
cggaaactggcagaactgcttttaagaaatcccaaagatgggcgattactttataggccc
aacaaagcaggcgagactccttataatattgactgtagccatcagaagagtattttaact
caaatatttggagccagacacttgtctcctactgaaacagacggtgacatgcttggatat
gatttatatagcagtgccctggcagatattctcagtgagcctaccatgcagccacccatt
tgtgtggggttatatgcacagtggggaagtgggaaatctttcttactcaagaaactagaa
gacgaaatgaaaaccttcgccggacaacagattgagcctctctttcagttctcatggctc
atagtgtttcttaccctgctactttgtggagggcttggtttattgtttgccttcacggtc
cacccaaatcttggaatagcagtgtcactgagcttcttggctctcttatatatattcttt
attgtcatttactttggtggacgaagagaaggagagagttggaattgggcctgggtcctc
agcactagattggcaagacatattggatatttggaactcctccttaaattgatgtttgtg
aatccacctgagttgccagagcagactactaaagctttacctgtgaggtttttgtttaca
gattacaatagactgtccagtgtaggtggagaaacttctctggctgaaatgattgcaacc
ctctcggatgcttgtgaaagagagtttggctttttggcaaccaggctttttcgagtattc
aagactgaagatactcagggtaaaaagaaatggaaaaaaacatgttgtctcccatctttt
gtcatcttcctttttatcattggctgcattatatctggaattactcttctggctatattt
agagttgacccaaagcatctgactgtaaatgctgtcctcatatcaatcgcatctgtagtg
ggattggcctttgtgttgaactgtcgtacatggtggcaagtgctggactcgctcctgaat
tcccaaagaaaacgcctccataatgcagcctccaaactgcacaaattgaaaagtgaagga
ttcatgaaagttcttaaatgtgaagtggaattgatggccaggatggcaaaaaccattgac
agcttcactcagaatcagacaaggctggtggtcatcatcgatggattagatgcctgtgag
caggacaaagtccttcagatgctggacactgtccgagttctgttttcaaaaggcccgttc
attgccatttttgcaagtgatccacatattatcataaaggcaattaaccagaacctcaat
agtgtgcttcgggattcaaatataaatggccatgactacatgcgcaacatagtccacttg
cctgtgttccttaatagtcgtggactaagcaatgcaagaaaatttctcgtaacttcagca
acaaatggagacgttccatgctcagatactacagggatacaggaagatgctgacagaaga
gtttcacagaacagccttggggagatgacaaaacttggtagcaagacagccctcaataga
cgggacacttaccgaagaaggcagatgcagaggaccatcactcgccagatgtcctttgat
cttacaaaactgctggttaccgaggactggttcagtgacatcagtccccagaccatgaga
agattacttaatattgtttctgtgacaggacgattactgagagccaatcagattagtttc
aactgggacaggcttgctagctggatcaaccttactgagcagtggccataccggacttca
tggctcatattatatttggaagagactgaaggtattccagatcaaatgacattaaaaacc
atctacgaaagaatatcaaagaatattccaacaactaaggatgttgagccacttcttgaa
attgatggagatataagaaattttgaagtgtttttgtcttcaaggaccccagttcttgtg
gctcgagatgtaaaagtctttttgccatgcactgtaaacctagatcccaaactacgggaa
attattgcagatgttcgtgctgccagagagcagatcagtattggaggactggcgtacccc
ccgctccctctacatgagggtcctcctagggcgccatcagggtacagccagcccccatcc
gtgtgctcttccacgtccttcaatgggcccttcgcaggtggagtggtgtcaccacagcct
cacagcagctattacagcggcatgacgggccctcagcatcccttctacaacaggccattc
tttgccccatacctttacacgccaaggtattaccctggcggctcccaacatctcatctca
cgtccatcagtaaaaacgagtttgcccagagatcagaacaatggcctagaagttatcaag
gaggatgctgctgaggggctttcttcacccacagactcctcgagggggtcaggcccagcc
ccaggcccagtggtattactgaattcactgaatgtggatgcagtatgtgagaagctgaaa
caaatagaagggctggaccagagtatgctgcctcagtattgtaccacgatcaaaaaggca
aacataaatggccgtgtgttagctcagtgtaacattgatgagctgaagaaagagatgaat
atgaattttggagactggcaccttttcagaagcacagtactagaaatgagaaacgcagaa
agccacgtggtccctgaagacccacgtttcctcagtgagagcagcagtggcccagccccg
cacggtgagcctgctcgccgcgcttcccacaacgagctgcctcacaccgagctctccagc
cagacgccctacacactcaacttcagcttcgaagagctgaacacgcttggcctggatgaa
ggtgcccctcgtcacagtaatctaagttggcagtcacaaactcgcagaaccccaagtctt
tcgagtctcaattcccaggattccagtattgaaatttcaaagcttactgataaggtgcag
gccgagtatagagatgcctatagagaatacattgctcagatgtcccagttagaagggggc
cccgggtctacaaccattagtggcagatcttctccacatagcacatattacatgggtcag
agttcatcagggggctctattcattcaaacctagagcaagaaaaggggaaggatagtgaa
ccaaagcccgatgatgggaggaagtcctttctaatgaagaggggagatgttatcgattat
tcatcatcaggggtttccaccaacgatgcttcccccctggatcctatcactgaagaagat
gaaaaatcagatcagtcaggcagtaagcttctcccaggcaagaaatcttccgaaaggtca
agcctcttccagacagatttgaagcttaagggaagtgggctgcgctatcaaaaactccca
agtgacgaggatgaatctggcacagaagaatcagataacactccactgctcaaagatgac
aaagacagaaaagccgaagggaaagtagagagagtgccgaagtctccagaacacagtgct
gagccgatcagaaccttcattaaagccaaagagtatttatcggatgcgctccttgacaaa
aaggattcatcggattcaggagtgagatccagtgaaagttctcccaatcactctctgcac
aatgaagtggcggatgactcccagcttgaaaaggcaaatctcatagagctggaagatgac
agtcacagcggaaagcggggaatcccacatagcctgagtggcctgcaagatccaattata
gctcggatgtccatttgttcagaagacaagaaaagcccttccgaatgcagcttgatagcc
agcagccctgaagaaaactggcctgcatgccagaaagcctacaacctgaaccgaactccc
agcaccgtgactctgaacaacaatagtgctccagccaacagagccaatcaaaatttcgat
gagatggagggaattagggagacttctcaagtcattttgaggcctagttccagtcccaac
ccaaccactattcagaatgagaatctaaaaagcatgacacataagcgaagccaacgttca
agttacacaaggctctccaaagatcctccggagctccatgcagcagcctcttctgagagc
acaggctttggagaagaaagagaaagcattctttga

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