KEGG   Homo sapiens (human): 2296
Entry
2296              CDS       T01001                                 
Symbol
FOXC1, ARA, ASGD3, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
Name
(RefSeq) forkhead box C1
  KO
K09396  forkhead box protein C
Organism
hsa  Homo sapiens (human)
Disease
H00620  Axenfeld-Rieger syndrome
H01159  Anterior segment dysgenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    2296 (FOXC1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Fork head/winged helix developmental regulators
    2296 (FOXC1)
SSDB
Motif
Pfam: Forkhead
Other DBs
NCBI-GeneID: 2296
NCBI-ProteinID: NP_001444
OMIM: 601090
HGNC: 3800
Ensembl: ENSG00000054598
UniProt: Q12948 W6CJ52
Position
6:1609915..1613897
AA seq 553 aa
MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGM
ARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQ
GWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAV
KDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP
PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSL
YSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAG
GSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLY
RTSGAFVYDCSKF
NT seq 1662 nt   +upstreamnt  +downstreamnt
atgcaggcgcgctactccgtgtccagccccaactccctgggagtggtgccctacctcggc
ggcgagcagagctactaccgcgcggcggccgcggcggccgggggcggctacaccgccatg
ccggcccccatgagcgtgtactcgcaccctgcgcacgccgagcagtacccgggcggcatg
gcccgcgcctacgggccctacacgccgcagccgcagcccaaggacatggtgaagccgccc
tatagctacatcgcgctcatcaccatggccatccagaacgccccggacaagaagatcacc
ctgaacggcatctaccagttcatcatggaccgcttccccttctaccgggacaacaagcag
ggctggcagaacagcatccgccacaacctctcgctcaacgagtgcttcgtcaaggtgccg
cgcgacgacaagaagccgggcaagggcagctactggacgctggacccggactcctacaac
atgttcgagaacggcagcttcctgcggcggcggcggcgcttcaagaagaaggacgcggtg
aaggacaaggaggagaaggacaggctgcacctcaaggagccgcccccgcccggccgccag
cccccgcccgcgccgccggagcaggccgacggcaacgcgcccggtccgcagccgccgccc
gtgcgcatccaggacatcaagaccgagaacggtacgtgcccctcgccgccccagcccctg
tccccggccgccgccctgggcagcggcagcgccgccgcggtgcccaagatcgagagcccc
gacagcagcagcagcagcctgtccagcgggagcagccccccgggcagcctgccgtcggcg
cggccgctcagcctggacggtgcggattccgcgccgccgccgcccgcgccctccgccccg
ccgccgcaccatagccagggcttcagcgtggacaacatcatgacgtcgctgcgggggtcg
ccgcagagcgcggccgcggagctcagctccggccttctggcctcggcggccgcgtcctcg
cgcgcggggatcgcacccccgctggcgctcggcgcctactcgcccggccagagctccctc
tacagctccccctgcagccagacctccagcgcgggcagctcgggcggcggcggcggcggc
gcgggggccgcggggggcgcgggcggcgccgggacctaccactgcaacctgcaagccatg
agcctgtacgcggccggcgagcgcgggggccacttgcagggcgcgcccgggggcgcgggc
ggctcggccgtggacgaccccctgcccgactactctctgcctccggtcaccagcagcagc
tcgtcgtccctgagtcacggcggcggcggcggcggcggcgggggaggccaggaggccggc
caccaccctgcggcccaccaaggccgcctcacctcgtggtacctgaaccaggcgggcgga
gacctgggccacttggcgagcgcggcggcggcggcggcggccgcaggctacccgggccag
cagcagaacttccactcggtgcgggagatgttcgagtcacagaggatcggcttgaacaac
tctccagtgaacgggaatagtagctgtcaaatggccttcccttccagccagtctctgtac
cgcacgtccggagctttcgtctacgactgtagcaagttttga

  All links  
Disease (3)   
   OMIM (3)   
Gene (21)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (11)   
   RefSeq(nuc) (1)   
   GenBank (5)   
   EMBL (5)   
Protein domain (1)   
   Pfam (1)   
All databases (40)   

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