KEGG   Homo sapiens (human): 9569
Entry
9569              CDS       T01001                                 
Symbol
GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1
Name
(RefSeq) GTF2I repeat domain containing 1
  KO
K27274  general transcription factor II-I repeat domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Disease
H01439  Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    9569 (GTF2IRD1)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Other transcription-related factors
    Others
     9569 (GTF2IRD1)
SSDB
Motif
Pfam: GTF2I
Other DBs
NCBI-GeneID: 9569
NCBI-ProteinID: NP_057412
OMIM: 604318
HGNC: 4661
Ensembl: ENSG00000006704
UniProt: Q9UHL9
Structure
Position
7:74453906..74602605
AA seq 959 aa
MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDE
SAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLE
HGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAE
YDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVP
PQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQD
FSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFN
SRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIH
FIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDC
GPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTD
KGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEE
LFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASS
LGFSPPALPPERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEA
LGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRP
FQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEV
TGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKR
KRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPGPLNY
NT seq 2880 nt   +upstreamnt  +downstreamnt
atggccttgctgggtaagcgctgtgacgtccccaccaacggctgcggacccgaccgctgg
aactccgcgttcacccgcaaagacgagatcatcaccagcctcgtgtctgccttagactcc
atgtgctcagcgctgtccaaactgaacgccgaggtggcctgtgtcgccgtgcacgatgag
agcgcctttgtggtgggcacagagaaggggagaatgttcctgaatgcccggaaggagcta
cagtcagacttcctcaggttctgccgagggcccccgtggaaggatccggaggcagagcac
cccaagaaggtgcagcggggcgagggtggaggccgtagcctccctcggtcctccctggaa
catggctcagatgtgtaccttctgcggaagatggtagaggaggtgtttgatgttctttat
agcgaggccctgggaagggccagtgtggtgccactgccctatgagaggctgctcagggag
ccagggctgctggccgtgcaggggctgcccgaaggcctggccttccgaaggccagccgag
tatgaccccaaggccctcatggccatcctggaacacagccaccgcatccgcttcaagctc
aagaggccacttgaggatggcgggcgggactcgaaggccctggtggagctgaacggtgtc
tccctgattcccaaggggtcacgggactgtggcctgcatggccaggcccccaaggtgcca
ccccaggacctgcccccaaccgccacctcctcctccatggccagcttcctgtacagcacg
gcgctccccaaccacgccatccgagagctcaagcaggaagcaccttcctgcccccttgcc
cccagcgacctgggcctgagtcggcccatgccagagcccaaggccaccggtgcccaagac
ttctccgactgttgtggacagaagcccactgggcctggtgggcctctcatccagaacgtc
catgcctccaagcgcattctcttctccatcgtccatgacaagtcagagaagtgggacgcc
ttcataaaggaaaccgaggacatcaacacgctccgggagtgtgtgcagatcctgtttaac
agcagatatgcggaagccctgggcctggaccacatggtccccgtgccctaccggaagatt
gcctgtgacccggaggctgtggagatcgtgggcatcccggacaagatccccttcaagcgc
ccctgcacttatggagtccccaagctgaagcggatcctggaggagcgccatagtatccac
ttcatcattaagaggatgtttgatgagcgaattttcacagggaacaagtttaccaaagac
accacgaagctggagccagccagcccgccagaggacacctctgcagaggtctctagggcc
accgtccttgaccttgctgggaatgctcggtcagacaagggcagcatgtctgaagactgt
gggccaggaacctccggggagctgggcgggctgaggccgatcaaaattgagccagaggat
ctggacatcattcaggtcaccgtcccagacccctcgccaacctctgaggaaatgacagac
tcgatgcctgggcacctgccatcggaggattctggttatgggatggagatgctgacagac
aaaggtctgagtgaggacgcgcggcccgaggagaggcccgtggaggacagccacggtgac
gtgatccggcccctgcggaagcaggtggagctgctcttcaacacacgatacgccaaggcc
attggcatctcggagcccgtcaaggtgccgtactccaagtttctgatgcacccggaggag
ctgtttgtggtgggactgcctgaaggcatctccctccgcaggcccaactgcttcgggatc
gccaagctccggaagattctggaggccagcaacagcatccagtttgtcatcaagaggccc
gagctgctcactgagggagtcaaagagcccatcatggatagtcaaggaactgcctcctca
cttggcttctctccccctgccctgcccccagagagggattccggggaccctctggtggac
gagagcctgaagagacagggctttcaagaaaattatgacgcgaggctctcacggatcgac
atcgccaacacactaagggagcaggtccaggaccttttcaataagaaatacggggaagcc
ttgggcatcaagtacccggtccaggtcccctacaagcggatcaagagtaaccccggctcc
gtgatcatcgaggggctgcccccaggaatcccgttccgaaagccctgtaccttcggctcc
cagaacctggagaggattcttgctgtggctgacaagatcaagttcacagtcaccaggcct
ttccaaggactcatcccaaagcctgatgaagatgacgccaacagactcggggagaaggtg
atcctgcgggagcaggtgaaggaactcttcaacgagaaatacggtgaggccctgggcctg
aaccggccggtgctggtcccttataaactaatccgggacagcccagacgccgtggaggtc
acgggtctgcctgatgacatccccttccggaaccccaacacgtacgacatccaccggctg
gagaagatcctgaaggcccgagagcatgtccgcatggtcatcattaaccagctccaaccc
tttgcagaaatctgcaatgatgccaaggtgccagccaaagacagcagcattcccaagcgc
aagagaaagcgggtctcggaaggaaattccgtctcctcttcctcctcgtcttcctcttcc
tcgtcctctaacccggattcagtggcatcggccaaccagatctcactcgtgcaatggcca
atgtacatggtggactatgccggcctgaacgtgcagctcccgggacctcttaattactag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (38)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (36)   
DNA sequence (54)   
   RefSeq(nuc) (36)   
   GenBank (9)   
   EMBL (9)   
3D Structure (4)   
   PDB (4)   
Protein domain (1)   
   Pfam (1)   
All databases (114)   

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