| Tag | Content |
|---|---|
| Uniprot ID | P11362; A8K6T9; A8K8V5; C1KBH8; P17049; Q02063; Q02065; Q14306; Q14307; Q53H63; Q59H40; Q5BJG2; Q8N685; Q9UD50; Q9UDF0; Q9UDF1; Q9UDF2; |
| Entrez ID | 2260 |
| Genbank protein ID | AAA35835.1; CAA40404.1; AAH91494.1; CAA68679.1; AAA35838.1; ACO38646.1; AAS79322.1; AAA35836.1; AAA35958.1; CAA40402.1; BAF84443.1; CAA40403.1; AAA35839.1; AAA35837.1; CAA36101.1; AAA75007.1; CAA40401.1; BAD96438.1; CAA37015.1; CAA47375.1; AAH15035.1; AAA35840.1; BAD92156.1; BAF85159.1; CAA40400.1; AAA35959.1; AAA35960.1; AAH18128.1; |
| Genbank nucleotide ID | NM_015850.3; NM_001174065.1; NM_023110.2; NM_023105.2; NM_001174066.1; NM_001174067.1; NM_001174064.1; NM_001174063.1; NM_023106.2; |
| Ensembl protein ID | ENSP00000380280; ENSP00000400162; ENSP00000393312; ENSP00000433163; ENSP00000380302; ENSP00000432972; ENSP00000380297; ENSP00000337247; ENSP00000348537; ENSP00000327229; |
| Ensembl nucleotide ID | ENSG00000077782 |
| Gene name | Fibroblast growth factor receptor 1 |
| Gene symbol | FGFR1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 17366557; 28232668; 26199944; |
| Functional description | Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation. |
| Sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD 60 VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD 120 ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS 180 SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN 240 HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI 300 GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE 360 ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS 420 IPLRRQVTVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL 480 GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK 540 HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL 600 VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG 660 RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD 720 KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF 780 PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR 822 |
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.