| Tag | Content |
|---|---|
| Uniprot ID | Q9JI57; Q547E0; Q80WJ8; Q80WJ9; Q80WK0; Q80WK1; Q8R4X5; Q8R4X6; Q8R4X7; Q8R4X8; Q8VHD5; Q8VI58; Q9EQE7; Q9ESZ6; Q9ESZ7; |
| Entrez ID | 57080 |
| Genbank protein ID | AAM02923.1; AAM02922.1; AAK49782.1; AAL68980.1; AAP30732.1; AAP30728.1; AAF99337.1; AAK49783.1; AAF78367.1; AAM02920.1; AAP30729.1; AAP30730.1; AAP30731.1; AAF99339.1; AAG44655.1; AAP30733.1; AAM02921.1; AAK49784.1; |
| Genbank nucleotide ID | NM_001081469.2; NM_020331.3; NM_001081467.2; NM_001081466.2; XM_017321038.1; NM_001347488.1; NM_001081462.2; XM_017321039.1; NM_001081463.2; NM_001081470.2; NM_001244936.1; |
| Ensembl protein ID | ENSMUSP00000098215; ENSMUSP00000143848; ENSMUSP00000072904; ENSMUSP00000098217; ENSMUSP00000106876; ENSMUSP00000132882; ENSMUSP00000073752; ENSMUSP00000143809; ENSMUSP00000098219; |
| Ensembl nucleotide ID | ENSMUSG00000023079 |
| Gene name | General transcription factor II-I repeat domain-containing protein 1 |
| Gene symbol | Gtf2ird1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 19109438 |
| Functional description | 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. |
| Sequence | MALLGKHCDI PTNGCGSERW NSTFARKDEL INSLVSALDS MCSALSKLNT EVACVAVHNE 60 SVFVMGTEKG RVFLNTRKEL QSDFLRFCRG PLWNDPEAGH PKKVQRCEGG GRSLPRSSLE 120 QCSDVYLLQK MVEEVFDVLY SEAMGRATVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE 180 YDPKALMAIL EHSHRIRFKL RRPPDDGGQD TKALVEMNGI SLLPKGSRDC GLHGQASKVA 240 PQDLTPTATP SSMANFLYST SMPNHTIREL KQEVPTCPLT PSDLGMGWPV PEPHVPSTQD 300 FSDCCGQTPA GPAGPLIQNV HASKRILFSI VHDKSEKWDP FIKEMEDINT LRECVQILFN 360 SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH 420 FIIKRMFDER IFTGNKFTKD PMKLEPASPP EDTSTEVCRD SMLDLAGTAW SDMSSVSEDC 480 GPGTSGEIAM LRPIKIEPEE LDIIQVTVSD PSPTSEEMTD SLPGHLPSED SGYGMEMPAD 540 KGPSEEPWSE ERPAEESPGD VIRPLRKQVE MLFNTKYAKA IGTSEPVKVP YSKFLMHPEE 600 LFVLGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTDGVKEP VLDTQERDSW 660 DRLVDETPKR QGLQENYNTR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK 720 SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILSVADKIKF TVTRPFQGLI PKPETKILTT 780 GHEAGKTTRP RRLQQDTWQP DEDDANRLGE KVILREQVKE LFNEKYGEAL GLNRPVLVPY 840 KLIRDSPDAV EVKGLPDDIP FRNPNTYDIH RLEKILKARE HVRMVIINQL QPFAEVCNDP 900 KVPEEDDSNK LGKKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVKGLPD 960 DIPFRNPNTY DIHRLEKILK AREHVRMVII NQLQPFGDVC NNAKVPAKDN IPKRKRKRVS 1020 EGNSVSSSSS SSSSSSNPES VASTNQISLV VKSRGSELHP NSVWPLPLPR AGPSTAPGTG 1080 RHWALRGTQP TTEGQAHPLV LPTR 1104 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003677 | DNA binding | IEA |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | IEA |
| GO:0006366 | transcription by RNA polymerase II | IEA |
| GO:0007275 | multicellular organism development | IEA |
| GO:0014886 | transition between slow and fast fiber | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005829 | cytosol | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| PROSITE ID | PROSITE Term |
|---|---|
| PS51139 | GTF2I |
| Pfam ID | Pfam Term |
|---|---|
| PF02946 | GTF2I |