| Tag | Content |
|---|---|
| UniProt Accession | CSF3R_HUMAN; Q99062; |
| Entrez ID | 1441 |
| GenBank Protein ID | NM_000760.3; NM_156039.3; NM_172313.2; XM_011540748.2; XM_017000370.1; |
| GenBank Nucleotide ID | NP_000751.1; NP_724781.1; NP_758519.1; XP_011539050.1; XP_016855859.1; |
| Protein Name | Granulocyte colony-stimulating factor receptor (G-CSF receptor) (G-CSF-R) (CD antigen CD114) |
| Gene Name | CSF3R; GCSFR |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface. |
| Sequence (Fasta) | MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ NCSHLDPEPQ 60 ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS CCLNWGNSLQ ILDQVELRAG 120 YPPAIPHNLS CLMNLTTSSL ICQWEPGPET HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK 180 DGQSHCCIPR KHLLLYQNMG IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE 240 AAPPQAGCLQ LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA 300 TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR TVQLFWKPVP 360 LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP SEAQEVALVA YNSAGTSRPT 420 PVVFSESRGP ALTRLHAMAR DPHSLWVGWE PPNPWPQGYV IEWGLGPPSA SNSNKTWRME 480 QNGRATGFLL KENIRPFQLY EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK 540 TWAQLEWVPE PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL 600 MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC SPNRKNPLWP 660 SVPDPAHSSL GSWVPTIMEE DAFQLPGLGT PPITKLTVLE EDEKKPVPWE SHNSSETCGL 720 PTLVQTYVLQ GDPRAVSTQP QSQSGTSDQV LYGQLLGSPT SPGPGHYLRC DSTQPLLAGL 780 TPSPKSYENL WFQASPLGTL VTPAPSQEDD CVFGPLLNFP LLQGIRVHGM EALGSF 837 |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | aCML, CNL, leukaemia lymphoma and MDS associated with severe congenital neutropenia, CMML, de novo AML, MDS |
| CTD (Curated) (count: 3) | MESH:D007964
; Leukocytosis OMIM:617014 ; NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE MESH:C563010 ; Neutrophilia, Hereditary |
| DisGeNet (Curated) (count: 10) (view all) | C0019214; Hepatosplenomegaly
C0023481; Chronic Neutrophilic Leukemia C0023518; Leukocytosis C0543669; Neutrophilia, Hereditary C1292772; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative C1851971; Hypoplastic myelodysplasia |
| HGMD (count: 4) | CG035178; Neutropaenia; Gross deletions
CM994688; Neutropaenia; Missense/nonsense CM051032; Myelodysplastic syndrome, association with; Missense/nonsense CS056750; Neutropaenia ?; Splicing |
| GWASdb (count: 4) | rs3917991; Atrial fibrillation; familial atrial fibrillation
rs3917989; Lymphocyte counts; asthma|leukemia|lymphoma|lymphopenia|cardiovascular system disease rs3917924; Hemoglobin; hemoglobinopathy rs3917924; Hematocrit; hypertension |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 10) (view all) | 196 PRKHLLLYQNMGIWV dbPAF
351 QRQLDPRTVQLFWKP dbPAF 365 PVPLEEDSGRIQGYV dbPAF 401 SCTFHLPSEAQEVAL dbPAF 727 LPTLVQTYVLQGDPR dbPAF 752 GTSDQVLYGQLLGSP dbPAF |
| Network | Interaction | ||
|---|---|---|---|
| A | B | Source | |