KEGG   Homo sapiens (human): 57688
Entry
57688             CDS       T01001                                 
Symbol
ZSWIM6, AFND, NEDMAGA
Name
(RefSeq) zinc finger SWIM-type containing 6
  KO
K25704  zinc finger SWIM domain-containing protein 6
Organism
hsa  Homo sapiens (human)
Disease
H02210  Acromelic frontonasal dysostosis
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    57688 (ZSWIM6)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   57688 (ZSWIM6)
SSDB
Motif
Pfam: ZSWIM4-8_C SWIM
Other DBs
NCBI-GeneID: 57688
NCBI-ProteinID: NP_065979
OMIM: 615951
HGNC: 29316
Ensembl: ENSG00000130449
UniProt: Q9HCJ5
LinkDB
Position
5:61332258..61546172
AA seq 1215 aa
MAERGQQPPPAKRLCCRPGGGGGGGGSSGGGGGAGGGYSSACRPGPRAGGAAAAAACGGG
AALGLLPPGKTQSPESLLDIAARRVAEKWPFQRVEERFERIPEPVQRRIVYWSFPRSERE
ICMYSSFNTGGGAAGGPGDDSGGGGGAGGGGGGGSSSSPAATSAAATSAAAAAAAAAAAA
AAAAGAGAPSVGAAGAADGGDETRLPFRRGIALLESGCVDNVLQVGFHLSGTVTEPAIQS
EPETVCNVAISFDRCKITSVTCSCGNKDIFYCAHVVALSLYRIRKPDQVKLHLPISETLF
QMNRDQLQKFVQYLITVHHTEVLPTAQKLADEILSQNSEINQVHGAPDPTAGASIDDENC
WHLDEEQVQEQVKLFLSQGGYHGSGKQLNLLFAKVREMLKMRDSNGARMLTLITEQFMAD
PRLSLWRQQGTAMTDKYRQLWDELGALWMCIVLNPHCKLEQKASWLKQLKKWNSVDVCPW
EDGNHGSELPNLTNALPQGANANQDSSNRPHRTVFTRAIEACDLHWQDSHLQHIISSDLY
TNYCYHDDTENSLFDSRGWPLWHEHVPTACARVDALRSHGYPREALRLAIAIVNTLRRQQ
QKQLEMFRTQKKELPHKNITSITNLEGWVGHPLDPVGTLFSSLMEACRIDDENLSGFSDF
TENMGQCKSLEYQHLPAHKFLEEGESYLTLAVEVALIGLGQQRIMPDGLYTQEKVCRNEE
QLISKLQEIELDDTLVKIFRKQAVFLLEAGPYSGLGEIIHRESVPMHTFAKYLFTSLLPH
DAELAYKIALRAMRLLVLESTAPSGDLTRPHHIASVVPNRYPRWFTLSHIESQQCELAST
MLTAAKGDVRRLETVLESIQKNIHSSSHIFKLAQDAFKIATLMDSLPDITLLKVSLELGL
QVMRMTLSTLNWRRREMVRWLVTCATEVGVYALDSIMQTWFTLFTPTEATSIVATTVMSN
STIVRLHLDCHQQEKLASSARTLALQCAMKDPQNCALSALTLCEKDHIAFETAYQIVLDA
ATTGMSYTQLFTIARYMEHRGYPMRAYKLATLAMTHLNLSYNQDTHPAINDVLWACALSH
SLGKNELAAIIPLVVKSVKCATVLSDILRRCTLTTPGMVGLHGRRNSGKLMSLDKAPLRQ
LLDATIGAYINTTHSRLTHISPRHYSEFIEFLSKARETFLMAHDGHIQFTQFIDNLKQIY
KGKKKLMMLVRERFG
NT seq 3648 nt   +upstreamnt  +downstreamnt
atggcggagcgcggacagcagcctcctcccgcgaaacggctttgctgccggccgggcggc
ggcggcggcggcgggggcagcagcggcggcggcggcggcgcgggtggcggctacagctct
gcctgtcggccaggcccgcgggcgggtggcgcggcggcggcggcggcgtgcgggggcggc
gcggcgctggggttgctgccgccgggcaagacccagagccccgagtcgctgctggacatc
gcggcgcgcagggtggcggagaagtggccgttccagcgcgtggaggagcgctttgagcgc
atcccggagccggtgcagcgccgcatagtctattggtccttcccccgcagcgagcgggag
atctgcatgtactcgtccttcaacaccggcggcggcgccgcgggcggccccggcgacgac
agcggtggcggcggcggcgcgggcggcggcggcggcggcggctcctcgtcttccccggcc
gcaacctcggcggccgcaacctcggccgccgccgccgctgccgccgccgccgccgccgcc
gccgccgccgcgggggccggggccccgtcggtgggggctgccggggcggcggacggcggc
gacgagacgcggctgcctttccgccggggcatcgcgctgttggaaagcggctgcgtagac
aacgtcctgcaagtcggtttccacttgagcggcacagtgacagaacctgcaatacaatcg
gagccagaaactgtttgcaacgtggccatcagctttgatcgttgcaagattacctcagtg
acctgcagctgtggaaacaaggacatattttattgtgcccatgttgtggcactgtcttta
taccgcatccgcaagccagatcaggtcaaactgcatcttcctatttcagagactctcttt
caaatgaatagagaccaactgcaaaagtttgtacagtatttgatcacagtgcaccacaca
gaagttttgccaactgctcaaaaattagcagatgaaattctttcccaaaattcagaaatc
aaccaagttcatggtgctcctgatccaacagcaggtgctagtatagatgatgaaaactgc
tggcacttagatgaagagcaggttcaagaacaggttaaactgttcctttcccagggcggg
taccacggatcagggaagcagcttaatttgctctttgcaaaggtgcgggagatgttaaag
atgagggactccaatggggcccgcatgttgaccttgataacagagcaattcatggctgac
cctcgcctgtcactttggcggcaacaaggcactgcaatgactgacaaatacaggcagctc
tgggatgagctgggtgctctgtggatgtgtatagttttaaacccccactgcaagttggag
caaaaggccagttggctaaaacagctgaagaaatggaatagtgttgatgtctgtccatgg
gaagatggaaatcatggcagtgaattacccaacttaaccaatgctctgcctcagggtgca
aatgccaaccaagattcatcgaacaggccacatcggacagtgttcacccgagccatcgag
gcatgcgatctccactggcaggatagccacttgcagcacattatcagcagtgacctatac
accaactactgttaccatgacgacactgaaaactccctcttcgactcccgcgggtggccc
ctctggcatgaacatgttcctacagcctgtgcaagagtggacgcattacgttctcatggg
taccccagagaagcactgagactagcaatagctattgttaatacattaagacgacagcag
cagaaacagttggaaatgttccgaacccaaaaaaaagagctaccccataaaaacataacc
tcgataaccaatctggagggctgggttggacatcccctggaccctgtgggcactctcttc
agtagccttatggaagcctgccgcattgatgatgagaacctctctgggttctcagatttt
acagagaatatgggacagtgcaagtctctggaataccagcatctacctgcacacaaattc
ttagaagaaggggaatcctatttaacgctggctgtggaagtagccctgatagggctagga
cagcagcgtatcatgcctgatgggctgtacacacaagagaaagtttgccggaatgaggag
cagctcatttctaagcttcaggaaattgaattggatgacacactggtgaaaatttttcgc
aagcaagcagtcttcctattagaagccggaccatatagtggtttaggtgaaataatccat
cgggagagcgttccaatgcacacatttgccaagtatctcttcacctctctcctacctcac
gatgctgaattggcatacaaaattgcactgagagcaatgcggttactagtattggaatct
actgctccatcaggagacctcacccgcccacaccacattgcatcagttgttcccaaccgc
taccctcgctggttcactctaagccacattgagtcccagcagtgtgagctggcatccacc
atgctaactgcagccaaaggcgatgttcggaggctggaaacagtattagaatccatccag
aaaaacattcactcctcatcacacatcttcaagcttgcccaagatgcatttaaaatagca
actctcatggacagtttgccagacatcactcttttgaaagtgtctctggagctgggcctg
caggttatgcgaatgacactgtcaaccttaaattggcgacggcgggagatggtgaggtgg
ctggtaacgtgtgctactgaagtcggggtttatgccctggacagcatcatgcagacctgg
tttacactctttactcccaccgaggccacaagtatagttgcaactaccgtgatgtccaac
agcaccatcgtccgcctccacctggactgccaccagcaggaaaagctggccagcagcgcc
cggacacttgcactgcagtgtgccatgaaggatccacagaactgtgccctctctgcgcta
accctttgtgaaaaggatcacatagcttttgagacggcgtaccaaattgttctcgacgct
gctacgactggcatgagctatacacagctctttacaatagcacggtacatggagcaccgc
gggtaccccatgagggcctacaagctggccaccctggccatgacccatctcaacctgagc
tacaatcaggacacacaccctgccattaatgatgttttgtgggcctgtgcgcttagccac
tcccttggtaaaaatgagcttgcagctataatacctctggtggtcaagagtgtcaagtgt
gcaacggtactgtcagacattttgcgcagatgcactctgaccactcctggcatggtggga
cttcatgggaggaggaactctggtaagctcatgtcactggacaaagcccccttgaggcaa
ctcttggatgccacgatcggggcctacatcaacacaacgcactcacggctcacacacatc
agtcctcggcactatagtgagtttatagagttcctcagcaaagcccgagagaccttctta
atggcgcatgatggacacattcagtttacacagtttattgacaacctgaaacaaatctac
aaaggcaaaaagaaactgatgatgttggttcgggagaggtttggttga

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