Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.
| RefSeq Version | NM_005211.3, 195947380 |
| Length | 4006 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. |
| Product | macrophage colony-stimulating factor 1 receptor precursor |
| Comment | Summary: The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. [provided by RefSeq]. |
| RefSeq | NP_005202.2 |
| CDS | 293..3211 | Exon (1) | 1..112 | Exon (2) | 1..112 | Exon (3) | 113..341 | Exon (4) | 342..599 | Exon (5) | 600..884 | Exon (6) | 885..1021 | Exon (7) | 1022..1181 | Exon (8) | 1182..1374 | Exon (9) | 1375..1490 | Exon (10) | 1491..1611 | Exon (11) | 1612..1802 | Exon (12) | 1803..1918 | Exon (13) | 1919..2045 | Exon (14) | 2046..2150 | Exon (15) | 2151..2261 | Exon (16) | 2262..2424 | Exon (17) | 2425..2513 | Exon (18) | 2514..2611 | Exon (19) | 2612..2734 | Exon (20) | 2735..2846 | Exon (21) | 2847..2946 | Exon (22) | 2947..3055 | Exon (23) | 3056..3989 |
| Translation | MGPGVLLLLLVATAWHGQGIPVIEPSVPELVVKPGATVTLRCVGNGSVEWDGPPSPHWTL
YSDGSSSILSTNNATFQNTGTYRCTEPGDPLGGSAAIHLYVKDPARPWNVLAQEVVVFED
QDALLPCLLTDPVLEAGVSLVRVRGRPLMRHTNYSFSPWHGFTIHRAKFIQSQDYQCSAL
MGGRKVMSISIRLKVQKVIPGPPALTLVPAELVRIRGEAAQIVCSASSVDVNFDVFLQHN
NTKLAIPQQSDFHNNRYQKVLTLNLDQVDFQHAGNYSCVASNVQGKHSTSMFFRVVESAY
LNLSSEQNLIQEVTVGEGLNLKVMVEAYPGLQGFNWTYLGPFSDHQPEPKLANATTKDTY
RHTFTLSLPRLKPSEAGRYSFLARNPGGWRALTFELTLRYPPEVSVIWTFINGSGTLLCA
ASGYPQPNVTWLQCSGHTDRCDEAQVLQVWDDPYPEVLSQEPFHKVTVQSLLTVETLEHN
QTYECRAHNSVGSGSWAFIPISAGAHTHPPDEFLFTPVVVACMSIMALLLLLLLLLLYKY
KQKPKYQVRWKIIESYEGNSYTFIDPTQLPYNEKWEFPRNNLQFGKTLGAGAFGKVVEAT
AFGLGKEDAVLKVAVKMLKSTAHADEKEALMSELKIMSHLGQHENIVNLLGACTHGGPVL
VITEYCCYGDLLNFLRRKAEAMLGPSLSPGQDPEGGVDYKNIHLEKKYVRRDSGFSSQGV
DTYVEMRPVSTSSNDSFSEQDLDKEDGRPLELRDLLHFSSQVAQGMAFLASKNCIHRDVA
ARNVLLTNGHVAKIGDFGLARDIMNDSNYIVKGNARLPVKWMAPESIFDCVYTVQSDVWS
YGILLWEIFSLGLNPYPGILVNSKFYKLVKDGYQMAQPAFAPKNIYSIMQACWALEPTHR
PTFQQICSFLQEQAQEDRRERDYTNLPSSSRSGGSGSSSSELEEESSSEHLTCCEQGDIA
QPLLQPNNYQFC
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| Position | Chain | Variation | Link |
| complement(68) | - | , ctcttc | dbSNP:60338145 |
| complement(77) | - | , ttcctc | dbSNP:71864983 |
| complement(81..86) | - | , ctcttc | dbSNP:71952049 |
| complement(84) | - | t, c | dbSNP:114172074 |
| complement(106) | - | t, c | dbSNP:11740408 |
| complement(160) | - | t, g | dbSNP:79669346 |
| complement(168) | - | t, g | dbSNP:79382462 |
| complement(376) | - | g, a | dbSNP:216123 |
| 385 | + | c, t | dbSNP:41424646 |
| complement(387) | - | c, a | dbSNP:56048668 |
| complement(470) | - | g, a | dbSNP:55865465 |
| complement(484) | - | g, a | dbSNP:56282370 |
| complement(574) | - | g, a | dbSNP:41287102 |
| complement(586) | - | g, a | dbSNP:17652007 |
| complement(610) | - | t, c | dbSNP:111792217 |
| complement(709) | - | t, c | dbSNP:61753457 |
| complement(1013) | - | t, c | dbSNP:79702016 |
| 1018 | + | c, t | dbSNP:2228422 |
| 1025 | + | g, t | dbSNP:41338945 |
| complement(1032) | - | t, g | dbSNP:17855673 |
| 1127 | + | a, g | dbSNP:3829986 |
| 1194 | + | a, t | dbSNP:121913390 |
| 1194 | + | c, t | dbSNP:121913391 |
| complement(1353) | - | g, a | dbSNP:17854479 |
| complement(1377) | - | t, c | dbSNP:10079250 |
| complement(1529) | - | t, c | dbSNP:34951517 |
| complement(1898) | - | g, c | dbSNP:55942044 |
| 1992 | + | c, t | dbSNP:41529644 |
| complement(2177) | - | c, a | dbSNP:17854478 |
| complement(2374) | - | t, c | dbSNP:56316417 |
| complement(2399) | - | g, a | dbSNP:111943087 |
| complement(2407) | - | t, c | dbSNP:3733670 |
| 2531 | + | a, g | dbSNP:41355444 |
| complement(2635) | - | t, c | dbSNP:55804445 |
| complement(2824) | - | g, a | dbSNP:55657214 |
| complement(2827) | - | g, c | dbSNP:56327604 |
| complement(3001) | - | g, a | dbSNP:41287094 |
| complement(3052) | - | g, c | dbSNP:34030164 |
| complement(3054) | - | t, c | dbSNP:56059682 |
| complement(3091) | - | g, a | dbSNP:41287092 |
| complement(3154) | - | g, a | dbSNP:56005231 |
| 3197 | + | c, t | dbSNP:121913393 |
| 3198 | + | a, g, t | dbSNP:1801271 |
| 3199 | + | a, t | dbSNP:121913392 |
| complement(3246..3247) | - | tg, ga | dbSNP:35308019 |
| 3246 | + | c, t | dbSNP:2066933 |
| 3247 | + | a, c | dbSNP:2066934 |
| complement(3441..3442) | - | , c | dbSNP:66970099 |
| 3442..3443 | + | , g | dbSNP:3216780 |
| complement(3442) | - | g, c | dbSNP:78449650 |
| complement(3443) | - | g, c | dbSNP:74557364 |
| complement(3443) | - | , cgg | dbSNP:72543477 |
| complement(3445) | - | g, a | dbSNP:114947856 |
| 3521 | + | a, c | dbSNP:41497048 |
| 3616 | + | c, g | dbSNP:1058920 |
| complement(3617) | - | t, a | dbSNP:11546510 |
| 3723 | + | c, t | dbSNP:13117 |
| 3798 | + | c, g | dbSNP:9727 |
| 3846 | + | c, t | dbSNP:1058950 |
| 3943 | + | a, c | dbSNP:12500 |
| complement(3980) | - | t, c | dbSNP:3828609 |
| Gene Symbol | CSF1R |
| Gene Synonym | C-FMS; CD115; CSFR; FIM2; FMS |
| Chromosome | 5 |
| Locus Map | 5q32 |
| All Transcripts | NM_005211 |
| Title | A CSF-1 receptor phosphotyrosine 559 signaling pathway regulates receptor ubiquitination and tyrosine phosphorylation . |
| Author | Xiong,Y., Song,D., Cai,Y., Yu,W., Yeung,Y.G. and Stanley,E.R. |
| Journal | J. Biol. Chem. 286 (2), 952-960 (2011) |
| Title | Posttranscriptional suppression of proto-oncogene c-fms expression by vigilin in breast cancer . |
| Author | Woo,H.H., Yi,X., Lamb,T., Menzl,I., Baker,T., Shapiro,D.J. and Chambers,S.K. |
| Journal | Mol. Cell. Biol. 31 (1), 215-225 (2011) |
| Title | Association between colony-stimulating factor 1 receptor gene polymorphisms and asthma risk . |
| Author | Shin,E.K., Lee,S.H., Cho,S.H., Jung,S., Yoon,S.H., Park,S.W., Park,J.S., Uh,S.T., Kim,Y.K., Kim,Y.H., Choi,J.S., Park,B.L., Shin,H.D. and Park,C.S. |
| Journal | Hum. Genet. 128 (3), 293-302 (2010) |
| Title | Functional overlap but differential expression of CSF-1 and IL-34 in their CSF-1 receptor-mediated regulation of myeloid cells . |
| Author | Wei,S., Nandi,S., Chitu,V., Yeung,Y.G., Yu,W., Huang,M., Williams,L.T., Lin,H. and Stanley,E.R. |
| Journal | J. Leukoc. Biol. 88 (3), 495-505 (2010) |
| Title | Profiling Y561-dependent and -independent substrates of CSF-1R in epithelial cells . |
| Author | Knowlton,M.L., Selfors,L.M., Wrobel,C.N., Gu,T.L., Ballif,B.A., Gygi,S.P., Polakiewicz,R. and Brugge,J.S. |
| Journal | PLoS ONE 5 (10), E13587 (2010) |
| Title | Expression and characterization of the p85 subunit of the phosphatidylinositol 3-kinase complex and a related p85 beta protein by using the baculovirus expression system . |
| Author | Gout,I., Dhand,R., Panayotou,G., Fry,M.J., Hiles,I., Otsu,M. and Waterfield,M.D. |
| Journal | Biochem. J. 288 (PT 2), 395-405 (1992) |
| Title | Localization of the 5' end of the MCF2 oncogene to human chromosome 15q15----q23 . |
| Author | Galland,F., Stefanova,M., Lafage,M. and Birnbaum,D. |
| Journal | Cytogenet. Cell Genet. 60 (2), 114-116 (1992) |
| Title | Myc rescue of a mutant CSF-1 receptor impaired in mitogenic signalling . |
| Author | Roussel,M.F., Cleveland,J.L., Shurtleff,S.A. and Sherr,C.J. |
| Journal | Nature 353 (6342), 361-363 (1991) |
| Title | Interactions of phosphatidylinositol kinase, GTPase-activating protein (GAP), and GAP-associated proteins with the colony-stimulating factor 1 receptor . |
| Author | Reedijk,M., Liu,X.Q. and Pawson,T. |
| Journal | Mol. Cell. Biol. 10 (11), 5601-5608 (1990) |
| Title | FMS mutations in myelodysplastic, leukemic, and normal subjects . |
| Author | Ridge,S.A., Worwood,M., Oscier,D., Jacobs,A. and Padua,R.A. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 87 (4), 1377-1380 (1990) |
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