KEGG   Homo sapiens (human): 4810Help
Entry
4810              CDS       T01001                                 

Gene name
NHS, CTRCT40, CXN, SCML1
Definition
(RefSeq) NHS actin remodeling regulator
Organism
hsa  Homo sapiens (human)
Disease
H01202  Cataract
H01292  Nance-Horan syndrome
SSDB OrthologParalogGFIT
Motif
Pfam: NHS Radial_spoke_3
Motif
Other DBs
NCBI-GeneID: 4810
NCBI-ProteinID: NP_001278796
OMIM: 300457
HGNC: 7820
Ensembl: ENSG00000188158
Vega: OTTHUMG00000022799
Pharos: Q6T4R5(Tbio)
UniProt: Q6T4R5
Position
Xp22.2-p22.13
AA seq 1651 aa AA seqDB search
MPFAKRIVEPQWLCRQRRPAPGPAVDASGGSAEPPPPLQPPGRRDLDEVEAPGPEEPARA
VPAPSGLPPPPPPLPAPADQTQPPHGEASVAGEESTAGIPEAAPAAGEASSAAAAAAVLL
MLDLCAVSNAALARVLRQLSDVARHACSLFQELESDIQLTHRRVWALQGKLGGVQRVLST
LDPKQEAVPVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRRE
HRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHFLTFNSTRSPSPTECCHMT
PWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVIS
SCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPV
ARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSA
GNISALADKGDTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHER
TPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNS
DTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGS
SHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLLDDPNNSNTSD
SEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDKADTSSHFSVD
TEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSI
SFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSR
MENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPY
RSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLAS
PSSGYSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLE
LPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKS
VNLRSINKSEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTIL
SFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPE
NTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESV
DVITSQSDSPTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIA
SGISAKSASDNSKAEETQGNVDEASLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRT
TEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSP
GLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEILKSPILPKPPGELTAESPQST
DDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCR
LYNTPMQAISEGETENSDGSPHDDRSSQSST
NT seq 4956 nt NT seq  +upstreamnt  +downstreamnt
atgcctttcgccaagcggatcgtggagccgcaatggctgtgcaggcagcggcgccctgcg
cccggcccagcagtggacgcgagcggaggcagcgctgagccgccgccgcccttgcagccg
ccgggccggagggacctggacgaggtcgaggcgccagggccagaggagccagcccgcgcc
gtccctgcaccttcagggctgccaccgccgccgccgccactgcccgcgccggccgaccag
actcagccgccgcacggagaggcgtccgtggctggcgaggagagcacggcggggatcccg
gaggcggcgcccgcagccggcgaggcgtcctcggcggcggcggcggcggccgtgctgctc
atgctggacctatgcgcggtcagcaacgccgctctggcccgtgtcctccggcagctctcg
gacgtggcccggcacgcttgcagcctcttccaggagctcgagagcgacatccagctcacc
caccgccgcgtctgggcgctgcagggcaagctcggcggcgtgcagcgcgtcctcagcacg
cttgaccctaagcaggaggcagtgcccgtctccaacctggacatagagagtaagctgagt
gtgtactaccgcgccccgtggcaccagcagcgcaacatcttcctcccagccacaaggcca
ccctgcgtggaggagctgcaccgccacgcccggcagagcctgcaagccctgcgcagagaa
caccggagccggagcgatcgccgagagcaaagagcagctgcccccctttccattgcagct
cctccactgccagcctaccctccagctcacagccagaggaggcgtgagtttaaggaccgt
cactttttaacgtttaacagcacccgttcgccctcccccactgaatgttgccacatgacc
ccgtggagtagaaagtcccatcccccagaggatgaagatacagatgtcatgttagggcag
aggccgaaaaacccaatacacaatatcccttccacactggacaagcagaccaactggagc
aaagcactacctctcccgacgccagaggagaagatgaaacaagatgcccaagtgatttct
tcttgcattattcccatcaatgttactggagttggctttgacagagaggctagtatacgc
tgctctctggttcattcacaatcggtactacagcggagacgaaaattgaggaggaggaaa
accatctcgggtatccccagaagagttcaacaagaaatagattctgatgaatcaccagtg
gccagggaaaggaatgtgattgtgcacacaaacccagacccctccaacactgtcaatagg
atatccggaaccagggactctgagtgccaaaccgaggatattctgattgctgccccatcc
agaaggagaatcagagctcaaaggggtcaaagcattgcagcttccctttctcattctgct
ggcaacatttctgccctagcagacaaaggtgacaccatgtttactcctgcagtgagcagc
cgcacaagatctcggagccttccccgggaaggtaatagaggtggggatgctgagcccaaa
gttggcgctaaaccctcagcatatgaagagggagagtcttttgtgggtgaccatgaaaga
acccctaatgatttcagtgaggctccaagcagcccgagtgcccaggaccaccagcctact
ttgggcctggcctgctctcaacatcttcacagcccccagcacaaattaagtgagagggga
aggtcacgtctgtcccgaatggctgctgactctggcagctgtgacatctcctccaactca
gacacgtttgggagccccatccactgcatctccacggctggcgtcctccttagcagccac
atggaccagaaagatgaccaccagtcatccagtggcaactggagtgggagcagctccacg
tgcccctcgcagacctcagaaaccatccctcctgcagcttctcctccactcactggctct
tcacactgtgactcggagttgtcactaaacacagcccctcatgccaatgaggatgccagt
gttttcgtgacagagcaatacaatgaccacttggataaagtgagaggccatcgggcaaac
tcctttacctccactgttgcagacctgctggatgatcccaacaacagcaacacaagtgac
agtgagtggaattacctacaccaccaccatgatgcctcctgccgccaggattttagtcct
gagcgtcccaaggcagacagcctgggctgcccaagcttcacaagcatggccacttatgac
agctttctggaaaagtctccatcagacaaagcggacactagctctcacttttcagtagac
acggaaggatactatacctccatgcactttgactgtggtctcaaaggtaataagagctat
gtctgtcactatgcagccctgggcccagagaatggccagggtgtaggggcttcccctggt
cttccagattgtgcctggcaggactacttagaccacaagaggcagggaagaccaagcatc
tctttcaggaaaccaaaggcaaagccgaccccacctaaacgtagctcatcattgaggaag
tctgatggaaacgcagatatttctgagaagaaagaaccaaagataagcagtggtcagcac
ctgcctcacagttccagggaaatgaagctgcctcttgatttcgccaacacgccttctcga
atggaaaacgccaatcttcccaccaagcaggaaccttcttggataaaccagagtgaacaa
ggcattaaggaacctcagttagatgcttcggatattccaccattcaaagatgaagttgcc
gaatccacacactatgcagacctctggctcctaaatgacttgaaaacaaatgatccttat
agatctctatctaattcaagcaccgctacgggtaccacagtcattgaatgcatcaaatct
ccagagagctctgaatcccaaacatcacaatcagaatcaagagccaccaccccatctctt
ccttctgttgacaatgagtttaaactggcttcaccagaaaagctggctggcttggcatct
ccatcaagtggctattcaagccagtctgaaacgccaacatcctctttccctacagctttc
ttttcaggtccattgtctcccggaggtagcaaaagaaaacctaaagtcccagaaagaaaa
tcctcactacagcaaccctctttaaaagatggaactatatcactgagtaaagaccttgaa
cttccaattatacctcctacccatcttgatctaagtgctcttcataatgtcttgaacaaa
ccattccaccaccgtcatccactgcatgtttttactcataataagcagaacacagtagga
gaaacactgaggtcgaatcctccaccgtcccttgcaattacaccaacgatcctgaaatct
gttaaccttaggtccatcaacaagtctgaagaagttaagcaaaaagaagaaaacaataca
gatctcccttatttagaggaaagcacactcacaacggctgccttgtctccaagtaagatt
aggccgcatacagcaaataaatcagtatctcgtcaatactccactgaagacaccatactg
tcctttttagactcttctgcagttgagatgggaccagataaactacatttagaaaaaaac
tctacttttgatgtgaagaatcgctgcgatccagaaaccataacatcagctggtagcagt
cttctagattcaaatgtcacaaaagaccaagtgcgtacagagactgagcctattccagaa
aacacgccaaccaaaaactgtgcttttcccacagaaggatttcagagggtctctgctgcc
cgcccaaatgatttggatggtaaaataatacaatatggacctggtccagacgaaactcta
gaacaggtacagaaggcaccctctgcaggtctggaggaagttgcacaacctgaatctgtg
gatgtaatcacatctcagtcagactcaccaactagagcaacagatgtaagcaatcaattt
aagcatcaatttgttatgagccgccaccatgacaaagtgcctggtactatcagctatgaa
tcggagataacatctgtaaattcattccctgaaaaatgttccaagcaggaaaatattgct
tcaggtatttcagccaaaagtgcctctgataacagcaaagcagaggagacccaaggaaat
gtggatgaggcttcattgaaagaatcatcaccgagtgatgactccatcatttcaccactt
agtgaagactcccaagctgaagcagagggtgtgttcgtgtctccaaacaaacctcgaaca
actgaggatttatttgcagtcattcacagatccaagaggaaagtacttggaagaaaagat
tccggggacatgtctgttcgaagcaaatcgagagctcccctcagcagtagcagcagcagc
gccagttccatcacttcacccagcagtaatgtgacaacccccaacagccagaggtctcct
ggtctcatataccgaaatgccaaaaagtccaacacatccaatgaagagtttaagctgtta
ctgctcaagaaaggcagtcgctcagattctagttaccgcatgtctgccactgagatcctg
aagagccccatactgcccaaacctcctggggagctcacagcagagtcccctcagagcacc
gatgatgcccatcaggggtcacaaggggctgaggcattgtccccactctctccatgctcc
ccacgagttaatgcagaaggcttttcctcgaagagctttgccacctcagcatcagcaagg
gttggacgttctcgggcccctcctgcagccagcagcagccgctacagtgtccgctgccgg
ctgtacaatacgcccatgcaggcaatctccgagggagagacggaaaattctgacgggagc
ccacatgacgaccgttcctcccagagttcaacatag

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