CSF3R
entrez
1441
canonical
uniprot
Q99062
canonical
ensembl
ENSG00000119535
resolver
ensp
ENSP00000362195
resolver
ensp
ENSP00000362196
resolver
ensp
ENSP00000362198
resolver
ensp
ENSP00000579397
resolver
genesymbol
CSF3R
resolver
genesymbol_syn
GCSFR
resolver
hgnc
HGNC:2439
resolver
uniprot_entry
CSF3R_HUMAN
resolver
amino_acid_sequence
MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITASCIIKQNCSHLDPEPQILWRLGAELQPGGRQQRLSDGTQESIITLPHLNHTQAFLSCCLNWGNSLQILDQVELRAGYPPAIPHNLSCLMNLTTSSLICQWEPGPETHLPTSFTLKSFKSRGNCQTQGDSILDCVPKDGQSHCCIPRKHLLLYQNMGIWVQAENALGTSMSPQLCLDPMDVVKLEPPMLRTMDPSPEAAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGEASWALVGPLPLEALQYELCGLLPATAYTLQIRCIRWPLPGHWSDWSPSLELRTTERAPTVRLDTWWRQRQLDPRTVQLFWKPVPLEEDSGRIQGYVVSWRPSGQAGAILPLCNTTELSCTFHLPSEAQEVALVAYNSAGTSRPTPVVFSESRGPALTRLHAMARDPHSLWVGWEPPNPWPQGYVIEWGLGPPSASNSNKTWRMEQNGRATGFLLKENIRPFQLYEIIVTPLYQDTMGPSQHVYAYSQEMAPSHAPELHLKHIGKTWAQLEWVPEPPELGKSPLTHYTIFWTNAQNQSFSAILNASSRGFVLHGLEPASLYHIHLMAASQAGATNSTVLTLMTLTPEGSELHIILGLFGLLLLLTCLCGTAWLCCSPNRKNPLWPSVPDPAHSSLGSWVPTIMEEDAFQLPGLGTPPITKLTVLEEDEKKPVPWESHNSSETCGLPTLVQTYVLQGDPRAVSTQPQSQSGTSDQVLYGQLLGSPTSPGPGHYLRCDSTQPLLAGLTPSPKSYENLWFQASPLGTLVTPAPSQEDDCVFGPLLNFPLLQGIRVHGMEALGSF
uniprot
proteins
disease_involvement
DISEASE: Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. {ECO:0000269|PubMed:19620628}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neutropenia, severe congenital 7, autosomal recessive (SCN7) [MIM:617014]: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:24753537, ECO:0000269|PubMed:26324699}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differentiation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface. {ECO:0000269|PubMed:7514305}.
uniprot
proteins
mass_dalton
92156
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:24753537}.
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
10449521
uniprot
proteins
pubmed
1530796
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16492764
uniprot
proteins
pubmed
1701053
uniprot
proteins
pubmed
17127321
uniprot
proteins
pubmed
1717255
uniprot
proteins
pubmed
19120359
uniprot
proteins
pubmed
19620628
uniprot
proteins
pubmed
2147944
uniprot
proteins
pubmed
24753537
uniprot
proteins
pubmed
26324699
uniprot
proteins
pubmed
7514305
uniprot
proteins
pubmed
8554326
uniprot
proteins
pubmed
9187659
uniprot
proteins
pubmed
9368043
uniprot
proteins
sequence_length
836
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24753537}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 628..650; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins