KEGG   Homo sapiens (human): 2969
Entry
2969              CDS       T01001                                 
Symbol
GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
Name
(RefSeq) general transcription factor IIi
  KO
K03121  transcription initiation factor TFII-I
Organism
hsa  Homo sapiens (human)
Pathway
hsa03022  Basal transcription factors
hsa04022  cGMP-PKG signaling pathway
Disease
H01439  Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03022 Basal transcription factors
    2969 (GTF2I)
 09130 Environmental Information Processing
  09132 Signal transduction
   04022 cGMP-PKG signaling pathway
    2969 (GTF2I)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    2969 (GTF2I)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Other transcription-related factors
    Others
     2969 (GTF2I)
SSDB
Motif
Pfam: GTF2I
Other DBs
NCBI-GeneID: 2969
NCBI-ProteinID: NP_127492
OMIM: 601679
HGNC: 4659
Ensembl: ENSG00000263001
Pharos: P78347(Tbio)
UniProt: P78347 X5DR09 Q499G6 A8K9W7
Structure
LinkDB
Position
7:74657718..74760692
AA seq 998 aa
MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTE
RGRAFVNTRKDFQKDFVKYCVEEEEKAAEMHKMKSTTQANRMSVDAVEIETLRKTVEDYF
CFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI
SFIIKRPFLEPKKHVGGRVMVTDADRSILSPGGSCGPIKVKTEPTEDSGISLEMAAVTVK
EESEDPDYYQYNIQAGPSETDDVDEKQPLSKPLQGSHHSSEGNEGTEMEVPAEDSTQHVP
SETSEDPEVEVTIEDDDYSPPSKRPKANELPQPPVPEPANAGKRKVREFNFEKWNARITD
LRKQVEELFERKYAQAIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLE
RILLAKERIRFVIKKHELLNSTREDLQLDKPASGVKEEWYARITKLRKMVDQLFCKKFAE
ALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLEKIIQVGNRIKFVIKR
PELLTHSTTEVTQPRTNTPVKEDWNVRITKLRKQVEEIFNLKFAQALGLTEAVKVPYPVF
ESNPEFLYVEGLPEGIPFRSPTWFGIPRLERIVRGSNKIKFVVKKPELVISYLPPGMASK
INTKALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGRE
FSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPF
RRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASG
VEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITIN
PGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESE
GPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW
NT seq 2997 nt   +upstreamnt  +downstreamnt
atggcccaagttgcaatgtccaccctccccgttgaagatgaggagtcctcggagagcagg
atggtggtgacattcctcatgtcagctctcgagtccatgtgtaaagaactggccaagtcc
aaagccgaagtggcctgcattgcagtgtatgaaacagacgtgtttgtcgtcggaactgaa
agaggacgtgcttttgtcaataccagaaaggattttcaaaaagattttgtaaaatattgt
gttgaagaagaagaaaaagctgcagagatgcataaaatgaaatctacaacccaggcaaat
cggatgagtgtagatgctgtagaaattgaaacactcagaaaaacagttgaggactatttc
tgcttttgctatgggaaagctttaggcaaatccacagtggtacctgtaccatatgagaag
atgctgcgagaccagtcggctgtggtagtgcaggggcttccggaaggtgttgcctttaaa
caccccgagaactatgatcttgcaaccctgaaatggattttggagaacaaagcagggatt
tcattcatcattaagagaccttttttagagccaaagaagcatgtaggtggtcgtgtgatg
gtaacagatgctgacaggtcaatactatctccaggtggaagttgtggccccatcaaagtg
aaaactgaacccacagaagattctggcatttccctggaaatggcagctgtgacagtaaag
gaagaatcagaagatcctgattattatcaatataacattcaagcaggcccttctgaaact
gatgatgttgatgaaaaacagcccctatcgaagcctttgcaaggaagccaccattcttca
gagggcaatgaaggcacagaaatggaagtaccagcagaagattctactcaacatgtccct
tcagaaacaagtgaggaccctgaagttgaggtgactattgaagatgatgattattctcca
ccgtctaagagaccaaaggccaatgagctaccgcagccaccagtcccggaacccgccaat
gctgggaagcggaaagtgagggagttcaacttcgagaaatggaatgctcgcatcactgat
ctacgtaaacaagttgaagaattgtttgaaaggaaatatgctcaagccataaaagccaaa
ggtccggtgacgatcccgtaccctcttttccagtctcatgttgaagatctttatgtagaa
ggacttcctgaaggaattccttttagaaggccatctacttacggaattcctcgcctggag
aggatattacttgcaaaggaaaggattcgttttgtgattaagaaacatgagcttctgaat
tcaacacgtgaagatttacagcttgataagccagcttcaggagtaaaggaagaatggtat
gccagaatcactaaattaagaaagatggtggatcagcttttctgcaaaaaatttgcggaa
gccttggggagcactgaagccaaggctgtaccgtaccaaaaatttgaggcacacccgaat
gatctgtacgtggaaggactgccagaaaacattcctttccgaagtccctcatggtatgga
atcccaaggctggaaaaaatcattcaagtgggcaatcgaattaaatttgttattaaaaga
ccagaacttctgactcacagtaccactgaagttactcagccaagaacgaatacaccagtc
aaagaagattggaatgtcagaattaccaagctacggaagcaagtggaagagatttttaat
ttgaaatttgctcaagctcttggactcaccgaggcagtaaaagtaccatatcctgtgttt
gaatcaaacccggagttcttgtatgtggaaggcttgccagaggggattcccttccgaagc
cctacctggtttggaattccacgacttgaaaggatcgtccgcgggagtaataaaatcaag
ttcgttgttaaaaaacctgaactagttatttcctacttgcctcctgggatggctagtaaa
ataaacactaaagctttgcagtcccccaaaagaccacgaagtcctgggagtaattcaaag
gttcctgaaattgaggtcaccgtggaaggccctaataacaacaatcctcaaacctcagct
gttcgaaccccgacccagactaacggttctaacgttcccttcaagccacgagggagagag
ttttcctttgaggcctggaatgccaaaatcacggacctaaaacagaaagttgaaaatctc
ttcaatgagaaatgtggggaagctcttggccttaaacaagctgtgaaggtgccgttcgcg
ttatttgagtctttcccggaagacttttatgtggaaggcttacctgagggtgtgccattc
cgaagaccatcgacttttggcattccgaggctggagaagatactcagaaacaaagccaaa
attaagttcatcattaaaaagcccgaaatgtttgagacggcgattaaggagagcacctcc
tctaagagccctcccagaaaaataaattcatcacccaatgttaatactactgcatcaggt
gttgaagaccttaacatcattcaggtgacaattccagatgatgataatgaaagactctcg
aaagttgaaaaagctagacagctaagagaacaagtgaatgacctctttagtcggaaattt
ggtgaagctattggtatgggttttcctgtgaaagttccctacaggaaaatcacaattaac
cctggctgtgtggtagttgatggcatgcccccgggggtgtccttcaaagcccccagctac
ctggaaatcagctccatgagaaggatcttagactctgccgagtttatcaaattcacggtc
attagaccatttccaggacttgtgattaataaccagctggttgatcagagtgagtcagaa
ggccccgtgatacaagaatcagctgaaccaagccagttggaagttccagccacagaagaa
ataaaagagactgatggaagctctcagatcaagcaagaaccagaccccacgtggtag

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
K03121  transcription initiation factor TFII-I
Organism
hsa  Homo sapiens (human)
Pathway
hsa03022  Basal transcription factors
hsa04022  cGMP-PKG signaling pathway
Disease
H01439  Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03022 Basal transcription factors
    9569 (GTF2IRD1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04022 cGMP-PKG signaling pathway
    9569 (GTF2IRD1)
 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
Pharos: Q9UHL9(Tbio)
UniProt: Q9UHL9
Structure
LinkDB
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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