KEGG   Homo sapiens (human): 6658
Entry
6658              CDS       T01001                                 

Gene name
SOX3, GHDX, MRGH, PHP, PHPX, SOXB
Definition
(RefSeq) SRY-box transcription factor 3
  KO
K09267  transcription factor SOX1/3/14/21 (SOX group B)
Organism
hsa  Homo sapiens (human)
Disease
H00254  Growth hormone deficiency
H00544  Septo-optic dysplasia
H00598  46,XX testicular disorder of sex development
H00658  Syndromic X-linked mental retardation
H02038  X-linked panhypopituitarism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6658 (SOX3)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   HMG SOX
    6658 (SOX3)
SSDB
Motif
Pfam: SOXp HMG_box HMG_box_2
Other DBs
NCBI-GeneID: 6658
NCBI-ProteinID: NP_005625
OMIM: 313430
HGNC: 11199
Ensembl: ENSG00000134595
Vega: OTTHUMG00000022544
Pharos: P41225(Tbio)
UniProt: P41225
LinkDB
Position
Xq27.1
AA seq 446 aa
MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAPTESQGLFTVAAPAPGA
PSPPATLAHLLPAPAMYSLLETELKNPVGTPTQAAGTGGPAAPGGAGKSSANAAGGANSG
GGSSGGASGGGGGTDQDRVKRPMNAFMVWSRGQRRKMALENPKMHNSEISKRLGADWKLL
TDAEKRPFIDEAKRLRAVHMKEYPDYKYRPRRKTKTLLKKDKYSLPSGLLPPGAAAAAAA
AAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQEQLGYAQPPSMSSPPPPPALPPMH
RYDMAGLQYSPMMPPGAQSYMNVAAAAAAASGYGGMAPSATAAAAAAYGQQPATAAAAAA
AAAAMSLGPMGSVVKSEPSSPPPAIASHSQRACLGDLRDMISMYLPPGGDAADAASPLPG
GRLHGVHQHYQGAGTAVNGTVPLTHI
NT seq 1341 nt   +upstreamnt  +downstreamnt
atgcgacctgttcgagagaactcatcaggtgcgagaagcccgcgggttcctgctgatttg
gcgcggagcattttgataagcctacccttcccgccggactcgctggcccacaggccccca
agctccgctccgacggagtcccagggccttttcaccgtggccgctccagccccgggagcg
ccttctcctcccgccacgctggcgcaccttcttcccgccccggcaatgtacagccttctg
gagactgaactcaagaaccccgtagggacacccacacaagcggcgggcaccggcggcccc
gcagccccgggaggcgcaggcaagagtagtgcgaacgcagccggcggcgcgaactcgggc
ggcggcagcagcggtggtgcgagcggaggtggcgggggtacagaccaggaccgtgtgaaa
cggcccatgaacgccttcatggtatggtcccgcgggcagcggcgcaaaatggccctggag
aaccccaagatgcacaattctgagatcagcaagcgcttgggcgccgactggaaactgctg
accgacgccgagaagcgaccattcatcgacgaggccaagcgacttcgcgccgtgcacatg
aaggagtatccggactacaagtaccgaccgcgccgcaagaccaagacgctgctcaagaaa
gataagtactccctgcccagcggcctcctgcctcccggtgccgcggccgccgccgccgct
gccgcggccgcagccgctgccgccagcagtccggtgggcgtgggccagcgcctggacacg
tacacgcacgtgaacggctgggccaacggcgcgtactcgctggtgcaggagcagctgggc
tacgcgcagcccccgagcatgagcagcccgccgccgccgcccgcgctgccgccgatgcac
cgctacgacatggccggcctgcagtacagcccaatgatgccgcccggcgctcagagctac
atgaacgtcgctgccgcggccgccgccgcctcgggctacgggggcatggcgccctcagcc
acagcagccgcggccgccgcctacgggcagcagcccgccaccgccgcggccgcagctgcg
gccgcagccgccatgagcctgggccccatgggctcggtagtgaagtctgagcccagctcg
ccgccgcccgccatcgcatcgcactctcagcgcgcgtgcctcggcgacctgcgcgacatg
atcagcatgtacctgccacccggcggggacgcggccgacgccgcctctccgctgcccggc
ggtcgcctgcacggcgtgcaccagcactaccagggcgccgggactgcagtcaacggaacg
gtgccgctgacccacatctga

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