KEGG   Homo sapiens (human): 10716
Entry
10716             CDS       T01001                                 
Symbol
TBR1, AUTS5, IDDAS, TBR-1, TES-56
Name
(RefSeq) T-box brain transcription factor 1
  KO
K10174  T-box brain protein 1
Organism
hsa  Homo sapiens (human)
Disease
H02371  Intellectual developmental disorder with autism and speech delay
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    10716 (TBR1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Other transcription factors
   T-box
    10716 (TBR1)
SSDB
Motif
Pfam: T-box_assoc T-box
Other DBs
NCBI-GeneID: 10716
NCBI-ProteinID: NP_006584
OMIM: 604616
HGNC: 11590
Ensembl: ENSG00000136535
UniProt: Q16650
Position
2:161416297..161425870
AA seq 682 aa
MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTDNLERSSPLKKITRGMT
NQSDTDNFPDSKDSPGDVQRSKLSPVLDGVSELRHSFDGSAADRYLLSQSSQPQSAATAP
SAMFPYPGQHGPAHPAFSIGSPSRYMAHHPVITNGAYNSLLSNSSPQGYPTAGYPYPQQY
GHSYQGAPFYQFSSTQPGLVPGKAQVYLCNRPLWLKFHRHQTEMIITKQGRRMFPFLSFN
ISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWM
RQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFT
FPETQFIAVTAYQNTDITQLKIDHNPFAKGFRDNYDTIYTGCDMDRLTPSPNDSPRSQIV
PGARYAMAGSFLQDQFVSNYAKARFHPGAGAGPGPGTDRSVPHTNGLLSPQQAEDPGAPS
PQRWFVTPANNRLDFAASAYDTATDFAGNAATLLSYAAAGVKALPLQAAGCTGRPLGYYA
DPSGWGARSPPQYCGTKSGSVLPCWPNSAAAAARMAGANPYLGEEAEGLAAERSPLPPGA
AEDAKPKDLSDSSWIETPSSIKSIDSSDSGIYEQAKRRRISPADTPVSESSSPLKSEVLA
QRDCEKNCAKDISGYYGFYSHS
NT seq 2049 nt   +upstreamnt  +downstreamnt
atgcagctggagcactgcctttctccttctatcatgctctccaagaaatttctcaatgtg
agcagcagctacccacattcaggcggatccgagcttgtcttgcacgatcatcccattatc
tcgaccactgacaacctggagagaagttcacctttgaaaaaaattaccagggggatgacg
aatcagtcagatacagacaattttcctgactccaaggactcaccaggggacgtccagaga
agtaaactctctcctgtcttggacggggtctctgagcttcgtcacagtttcgatggctct
gctgcagatcgctacctcctctctcagtccagccagccacagtctgcggccactgctccc
agtgccatgttcccgtaccccggccagcacggaccggcgcaccccgccttctccatcggc
agccctagccgctacatggcccaccacccggtcatcaccaacggagcctacaacagcctc
ctgtccaactcctcgccgcagggataccccacggccggctacccctacccacagcagtac
ggccactcctaccaaggagctccgttctaccagttctcctccacccagccggggctggtg
cccggcaaagcacaggtgtacctgtgcaacaggcccctttggctgaaatttcaccggcac
caaacggagatgatcatcaccaaacagggaaggcgcatgtttccttttttaagttttaac
atttctggtctcgatcccacggctcattacaatatttttgtggatgtgattttggcggat
cccaatcactggaggtttcaaggaggcaaatgggttccttgcggcaaagcggacaccaat
gtgcaaggaaatcgggtctatatgcatccggattcccccaacactggggctcactggatg
cgccaagaaatctcttttggaaaattaaaacttacgaacaacaaaggagcttcaaataac
aatgggcagatggtggttttacagtccttgcacaagtaccagccccgcctgcatgtggtg
gaagtgaacgaggacggcacggaggacactagccagcccggccgcgtgcagacgttcact
ttccctgagactcagttcatcgccgtcaccgcctaccagaacacggatattacacaactg
aaaatagatcacaacccttttgcaaaaggatttcgggataattatgacacgatctacacc
ggctgtgacatggaccgcctgaccccctcgcccaacgactcgccgcgctcgcagatcgtg
cccggggcccgctacgccatggccggctctttcctgcaggaccagttcgtgagcaactac
gccaaggcccgcttccacccgggcgcgggcgcgggccccgggccgggtacggaccgcagc
gtgccgcacaccaacgggctgctgtcgccgcagcaggccgaggacccgggcgcgccctcg
ccgcaacgctggtttgtgacgccggccaacaaccggctggacttcgcggcctcggcctat
gacacggccacggacttcgcgggcaacgcggccacgctgctctcttacgcggcggcgggc
gtgaaggcgctgccgctgcaggctgcaggctgcactggccgcccgctcggctactacgcc
gacccgtcgggctggggcgcccgcagtcccccgcagtactgcggcaccaagtcgggctcg
gtgctgccctgctggcccaacagcgccgcggccgccgcgcgcatggccggcgccaatccc
tacctgggcgaggaggccgagggcctggccgccgagcgctcgccgctgccgcccggcgcc
gccgaggacgccaagcccaaggacctgtccgattccagctggatcgagacgccctcctcg
atcaagtccatcgactccagcgactcggggatttacgagcaggccaagcggaggcggatc
tcgccggccgacacgcccgtgtccgagagttcgtccccgctcaagagcgaggtgctggcc
cagcgggactgcgagaagaactgcgccaaggacattagcggctactatggcttctactcg
cacagctag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (35)   
   RefSeq(nuc) (1)   
   GenBank (17)   
   EMBL (17)   
Protein domain (2)   
   Pfam (2)   
All databases (57)   

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