GTF2IRD1
entrez
9569
canonical
uniprot
Q9UHL9
canonical
ensembl
ENSG00000006704
resolver
ensp
ENSP00000265755
resolver
ensp
ENSP00000397566
resolver
ensp
ENSP00000408477
resolver
ensp
ENSP00000418383
resolver
ensp
ENSP00000579956
resolver
ensp
ENSP00000579958
resolver
ensp
ENSP00000579959
resolver
ensp
ENSP00000579960
resolver
ensp
ENSP00000599974
resolver
enst
ENST00000476977
resolver
genesymbol
GTF2IRD1
resolver
genesymbol_syn
CREAM1
resolver
genesymbol_syn
GTF3
resolver
genesymbol_syn
MUSTRD1
resolver
genesymbol_syn
RBAP2
resolver
genesymbol_syn
WBSCR11
resolver
genesymbol_syn
WBSCR12
resolver
hgnc
HGNC:4661
resolver
uniprot
E9PFE2
resolver
uniprot
O95444
resolver
uniprot
Q6DSU6
resolver
uniprot
Q75MX7
resolver
uniprot
Q86UM3
resolver
uniprot
Q8WVC4
resolver
uniprot
Q9UHK8
resolver
uniprot
Q9UI91
resolver
uniprot_entry
E9PFE2_HUMAN
resolver
uniprot_entry
GT2D1_HUMAN
resolver
uniprot_sec
O95444
resolver
uniprot_sec
Q6DSU6
resolver
uniprot_sec
Q75MX7
resolver
uniprot_sec
Q86UM3
resolver
uniprot_sec
Q8WVC4
resolver
uniprot_sec
Q9UHK8
resolver
uniprot_sec
Q9UI91
resolver
amino_acid_sequence
MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASSLGFSPPALPPERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPGPLNY
uniprot
proteins
disease_involvement
DISEASE: Note=GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
uniprot
proteins
function
FUNCTION: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:11438732}.
uniprot
proteins
mass_dalton
106057
uniprot
proteins
mutagenesis
MUTAGEN 898..959; /note="Missing: Cytoplasmic localization."; /evidence="ECO:0000269|PubMed:10642537
uniprot
proteins
protein_family
TFII-I family
uniprot
proteins
pubmed
10198167
uniprot
proteins
pubmed
10573005
uniprot
proteins
pubmed
10575229
uniprot
proteins
pubmed
10642537
uniprot
proteins
pubmed
11438732
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9774679
uniprot
proteins
sequence_length
959
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins