KEGG   Homo sapiens (human): 6663
Entry
6663              CDS       T01001                                 

Gene name
SOX10, DOM, PCWH, WS2E, WS4, WS4C
Definition
(RefSeq) SRY-box transcription factor 10
  KO
K09270  transcription factor SOX7/8/10/18 (SOX group E/F)
Organism
hsa  Homo sapiens (human)
Disease
H00759  Waardenburg syndrome
H02356  PCWH syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6663 (SOX10)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   HMG SOX
    6663 (SOX10)
SSDB
Motif
Pfam: Sox_N HMG_box HMG_box_2 Beta-lactamase
Other DBs
NCBI-GeneID: 6663
NCBI-ProteinID: NP_008872
OMIM: 602229
HGNC: 11190
Ensembl: ENSG00000100146
Vega: OTTHUMG00000149913
Pharos: P56693(Tbio)
UniProt: P56693 A0A024R1N6
Position
22q13.1
AA seq 466 aa
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQD
GEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARR
KLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKN
GKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQY
LPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTET
AGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASG
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP
NT seq 1401 nt   +upstreamnt  +downstreamnt
atggcggaggagcaggacctatcggaggtggagctgagccccgtgggctcggaggagccc
cgctgcctgtccccggggagcgcgccctcgctagggcccgacggcggcggcggcggatcg
ggcctgcgagccagcccggggccaggcgagctgggcaaggtcaagaaggagcagcaggac
ggcgaggcggacgatgacaagttccccgtgtgcatccgcgaggccgtcagccaggtgctc
agcggctacgactggacgctggtgcccatgcccgtgcgcgtcaacggcgccagcaaaagc
aagccgcacgtcaagcggcccatgaacgccttcatggtgtgggctcaggcagcgcgcagg
aagctcgcggaccagtacccgcacctgcacaacgctgagctcagcaagacgctgggcaag
ctctggaggctgctgaacgaaagtgacaagcgccccttcatcgaggaggctgagcggctc
cgtatgcagcacaagaaagaccacccggactacaagtaccagcccaggcggcggaagaac
gggaaggccgcccagggcgaggcggagtgccccggtggggaggccgagcaaggtgggacc
gccgccatccaggcccactacaagagcgcccacttggaccaccggcacccaggagagggc
tcccccatgtcagatgggaaccccgagcacccctcaggccagagccatggcccacccacc
cctccaaccaccccgaagacagagctgcagtcgggcaaggcagacccgaagcgggacggg
cgctccatgggggagggcgggaagcctcacatcgacttcggcaacgtggacattggtgag
atcagccacgaggtaatgtccaacatggagacctttgatgtggctgagttggaccagtac
ctgccgcccaatgggcacccaggccatgtgagcagctactcagcagccggctatgggctg
ggcagtgccctggccgtggccagtggacactccgcctggatctccaagccaccaggcgtg
gctctgcccacggtctcaccacctggtgtggatgccaaagcccaggtgaagacagagacc
gcggggccccaggggcccccacactacaccgaccagccatccacctcacagatcgcctac
acctccctcagcctgccccactatggctcagccttcccctccatctcccgcccccagttt
gactactctgaccatcagccctcaggaccctattatggccactcgggccaggcctctggc
ctctactcggccttctcctatatggggccctcgcagcggcccctctacacggccatctct
gaccccagcccctcagggccccagtcccacagccccacacactgggagcagccagtatat
acgacactgtcccggccctaa

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