KEGG   Homo sapiens (human): 6662Help
Entry
6662              CDS       T01001                                 

Gene name
SOX9, CMD1, CMPD1, SRA1, SRXX2, SRXY10
Definition
(RefSeq) SRY-box transcription factor 9
  KO
K18435  transcription factor SOX9 (SOX group E)
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
Disease
H00442  Campomelic dysplasia
H00607  46,XY gonadal dysgenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    6662 (SOX9)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6662 (SOX9)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   HMG SOX
    6662 (SOX9)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Sox_N HMG_box HMG_box_2
Motif
Other DBs
NCBI-GeneID: 6662
NCBI-ProteinID: NP_000337
OMIM: 608160
HGNC: 11204
Ensembl: ENSG00000125398
Vega: OTTHUMG00000166300
Pharos: P48436(Tbio)
UniProt: P48436
LinkDB All DBs
Structure
PDB: 

Position
17q24.3
AA seq 509 aa AA seqDB search
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDL
KKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAAR
RKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRK
SVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP
NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPP
QPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY
SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP
NT seq 1530 nt NT seq  +upstreamnt  +downstreamnt
atgaatctcctggaccccttcatgaagatgaccgacgagcaggagaagggcctgtccggc
gcccccagccccaccatgtccgaggactccgcgggctcgccctgcccgtcgggctccggc
tcggacaccgagaacacgcggccccaggagaacacgttccccaagggcgagcccgatctg
aagaaggagagcgaggaggacaagttccccgtgtgcatccgcgaggcggtcagccaggtg
ctcaaaggctacgactggacgctggtgcccatgccggtgcgcgtcaacggctccagcaag
aacaagccgcacgtcaagcggcccatgaacgccttcatggtgtgggcgcaggcggcgcgc
aggaagctcgcggaccagtacccgcacttgcacaacgccgagctcagcaagacgctgggc
aagctctggagacttctgaacgagagcgagaagcggcccttcgtggaggaggcggagcgg
ctgcgcgtgcagcacaagaaggaccacccggattacaagtaccagccgcggcggaggaag
tcggtgaagaacgggcaggcggaggcagaggaggccacggagcagacgcacatctccccc
aacgccatcttcaaggcgctgcaggccgactcgccacactcctcctccggcatgagcgag
gtgcactcccccggcgagcactcggggcaatcccagggcccaccgaccccacccaccacc
cccaaaaccgacgtgcagccgggcaaggctgacctgaagcgagaggggcgccccttgcca
gaggggggcagacagccccctatcgacttccgcgacgtggacatcggcgagctgagcagc
gacgtcatctccaacatcgagaccttcgatgtcaacgagtttgaccagtacctgccgccc
aacggccacccgggggtgccggccacgcacggccaggtcacctacacgggcagctacggc
atcagcagcaccgcggccaccccggcgagcgcgggccacgtgtggatgtccaagcagcag
gcgccgccgccacccccgcagcagcccccacaggccccgccggccccgcaggcgcccccg
cagccgcaggcggcgcccccacagcagccggcggcacccccgcagcagccacaggcgcac
acgctgaccacgctgagcagcgagccgggccagtcccagcgaacgcacatcaagacggag
cagctgagccccagccactacagcgagcagcagcagcactcgccccaacagatcgcctac
agccccttcaacctcccacactacagcccctcctacccgcccatcacccgctcacagtac
gactacaccgaccaccagaactccagctcctactacagccacgcggcaggccagggcacc
ggcctctactccaccttcacctacatgaaccccgctcagcgccccatgtacacccccatc
gccgacacctctggggtcccttccatcccgcagacccacagcccccagcactgggaacaa
cccgtctacacacagctcactcgaccttga

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