LOCUS       NM_000760               3008 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens colony stimulating factor 3 receptor (CSF3R),
            transcript variant 1, mRNA.
ACCESSION   NM_000760
VERSION     NM_000760.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3008)
  AUTHORS   Gan,Y., Wang,L., Chen,Y., Zheng,L., Wu,X., Chen,G. and Hu,Y.
  TITLE     Interactions of the CSF3R polymorphism and early stress on future
            orientation: evidence for the differential model of stress-related
            growth
  JOURNAL   Epidemiol Psychiatr Sci 33, e44 (2024)
   PUBMED   39359028
  REMARK    GeneRIF: Interactions of the CSF3R polymorphism and early stress on
            future orientation: evidence for the differential model of
            stress-related growth.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3008)
  AUTHORS   Kim,S.Y., Song,I.C., Kim,J. and Kwon,G.C.
  TITLE     Analysis of CSF3R mutations in atypical chronic myeloid leukemia
            and other myeloid malignancies
  JOURNAL   Ann Diagn Pathol 71, 152317 (2024)
   PUBMED   38642470
  REMARK    GeneRIF: Analysis of CSF3R mutations in atypical chronic myeloid
            leukemia and other myeloid malignancies.
REFERENCE   3  (bases 1 to 3008)
  AUTHORS   Mohamed,A., Gao,J., Chen,Y.H., Abaza,Y., Altman,J., Jennings,L.,
            Vormittag-Nocito,E., Sukhanova,M., Lu,X. and Chen,Q.
  TITLE     CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic
            leukemia
  JOURNAL   Hum Pathol 149, 66-74 (2024)
   PUBMED   38879086
  REMARK    GeneRIF: CSF3R mutated myeloid neoplasms: Beyond chronic
            neutrophilic leukemia.
REFERENCE   4  (bases 1 to 3008)
  AUTHORS   Dong,F., Hoefsloot,L.H., Schelen,A.M., Broeders,C.A., Meijer,Y.,
            Veerman,A.J., Touw,I.P. and Lowenberg,B.
  TITLE     Identification of a nonsense mutation in the
            granulocyte-colony-stimulating factor receptor in severe congenital
            neutropenia
  JOURNAL   Proc Natl Acad Sci U S A 91 (10), 4480-4484 (1994)
   PUBMED   7514305
REFERENCE   5  (bases 1 to 3008)
  AUTHORS   Tweardy,D.J., Anderson,K., Cannizzaro,L.A., Steinman,R.A.,
            Croce,C.M. and Huebner,K.
  TITLE     Molecular cloning of cDNAs for the human granulocyte
            colony-stimulating factor receptor from HL-60 and mapping of the
            gene to chromosome region 1p32-34
  JOURNAL   Blood 79 (5), 1148-1154 (1992)
   PUBMED   1371413
REFERENCE   6  (bases 1 to 3008)
  AUTHORS   Seto,Y., Fukunaga,R. and Nagata,S.
  TITLE     Chromosomal gene organization of the human granulocyte
            colony-stimulating factor receptor
  JOURNAL   J Immunol 148 (1), 259-266 (1992)
   PUBMED   1530796
REFERENCE   7  (bases 1 to 3008)
  AUTHORS   Fukunaga,R., Ishizaka-Ikeda,E., Pan,C.X., Seto,Y. and Nagata,S.
  TITLE     Functional domains of the granulocyte colony-stimulating factor
            receptor
  JOURNAL   EMBO J 10 (10), 2855-2865 (1991)
   PUBMED   1717255
REFERENCE   8  (bases 1 to 3008)
  AUTHORS   Inazawa,J., Fukunaga,R., Seto,Y., Nakagawa,H., Misawa,S., Abe,T.
            and Nagata,S.
  TITLE     Assignment of the human granulocyte colony-stimulating factor
            receptor gene (CSF3R) to chromosome 1 at region p35-p34.3
  JOURNAL   Genomics 10 (4), 1075-1078 (1991)
   PUBMED   1833306
REFERENCE   9  (bases 1 to 3008)
  AUTHORS   Larsen,A., Davis,T., Curtis,B.M., Gimpel,S., Sims,J.E., Cosman,D.,
            Park,L., Sorensen,E., March,C.J. and Smith,C.A.
  TITLE     Expression cloning of a human granulocyte colony-stimulating factor
            receptor: a structural mosaic of hematopoietin receptor,
            immunoglobulin, and fibronectin domains
  JOURNAL   J Exp Med 172 (6), 1559-1570 (1990)
   PUBMED   2147944
REFERENCE   10 (bases 1 to 3008)
  AUTHORS   Fukunaga,R., Seto,Y., Mizushima,S. and Nagata,S.
  TITLE     Three different mRNAs encoding human granulocyte colony-stimulating
            factor receptor
  JOURNAL   Proc Natl Acad Sci U S A 87 (22), 8702-8706 (1990)
   PUBMED   1701053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA858302.1 and BC053585.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000760.3.
            
            Summary: The protein encoded by this gene is the receptor for
            colony stimulating factor 3, a cytokine that controls the
            production, differentiation, and function of granulocytes. The
            encoded protein, which is a member of the family of cytokine
            receptors, may also function in some cell surface adhesion or
            recognition processes. Alternatively spliced transcript variants
            have been described. Mutations in this gene are a cause of Kostmann
            syndrome, also known as severe congenital neutropenia. [provided by
            RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC053585.1, SRR1660805.152526.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373106.6/ ENSP00000362198.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 DA858302.1         402-407
            7-3008              BC053585.1         1-3002
FEATURES             Location/Qualifiers
     source          1..3008
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..3008
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="colony stimulating factor 3 receptor"
                     /db_xref="GeneID:1441"
                     /db_xref="HGNC:HGNC:2439"
                     /db_xref="MIM:138971"
     exon            1..103
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            104..163
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            164..247
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     CDS             184..2694
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; CD114 antigen; G-CSF-R; G-CSF receptor; colony
                     stimulating factor 3 receptor (granulocyte)"
                     /codon_start=1
                     /product="granulocyte colony-stimulating factor receptor
                     isoform a precursor"
                     /protein_id="NP_000751.1"
                     /db_xref="CCDS:CCDS413.1"
                     /db_xref="GeneID:1441"
                     /db_xref="HGNC:HGNC:2439"
                     /db_xref="MIM:138971"
                     /translation="MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITA
                     SCIIKQNCSHLDPEPQILWRLGAELQPGGRQQRLSDGTQESIITLPHLNHTQAFLSCC
                     LNWGNSLQILDQVELRAGYPPAIPHNLSCLMNLTTSSLICQWEPGPETHLPTSFTLKS
                     FKSRGNCQTQGDSILDCVPKDGQSHCCIPRKHLLLYQNMGIWVQAENALGTSMSPQLC
                     LDPMDVVKLEPPMLRTMDPSPEAAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGE
                     ASWALVGPLPLEALQYELCGLLPATAYTLQIRCIRWPLPGHWSDWSPSLELRTTERAP
                     TVRLDTWWRQRQLDPRTVQLFWKPVPLEEDSGRIQGYVVSWRPSGQAGAILPLCNTTE
                     LSCTFHLPSEAQEVALVAYNSAGTSRPTPVVFSESRGPALTRLHAMARDPHSLWVGWE
                     PPNPWPQGYVIEWGLGPPSASNSNKTWRMEQNGRATGFLLKENIRPFQLYEIIVTPLY
                     QDTMGPSQHVYAYSQEMAPSHAPELHLKHIGKTWAQLEWVPEPPELGKSPLTHYTIFW
                     TNAQNQSFSAILNASSRGFVLHGLEPASLYHIHLMAASQAGATNSTVLTLMTLTPEGS
                     ELHIILGLFGLLLLLTCLCGTAWLCCSPNRKNPLWPSVPDPAHSSLGSWVPTIMEEDA
                     FQLPGLGTPPITKLTVLEEDEKKPVPWESHNSSETCGLPTLVQTYVLQGDPRAVSTQP
                     QSQSGTSDQVLYGQLLGSPTSPGPGHYLRCDSTQPLLAGLTPSPKSYENLWFQASPLG
                     TLVTPAPSQEDDCVFGPLLNFPLLQGIRVHGMEALGSF"
     exon            248..544
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            545..668
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            669..856
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1026
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1180
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1254
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1468
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1657
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1759
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..1906
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1907..2047
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            2048..2141
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            2142..2223
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     exon            2224..3008
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2973
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="major polyA site"
     polyA_site      3008
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="major polyA site"
ORIGIN      
        1 agagctcggg gagagaagct ggactgcagc tggtttcagg aacttctctt gacgagaaga
       61 gagaccaagg aggccaagca ggggctgggc cagaggtgcc aacatgggga aactgaggct
      121 cggctcggaa aggtgaagta acttgtccaa gatcacaaag ctggtgaaca tcaagttggt
      181 gctatggcaa ggctgggaaa ctgcagcctg acttgggctg ccctgatcat cctgctgctc
      241 cccggaagtc tggaggagtg cgggcacatc agtgtctcag cccccatcgt ccacctgggg
      301 gatcccatca cagcctcctg catcatcaag cagaactgca gccatctgga cccggagcca
      361 cagattctgt ggagactggg agcagagctt cagcccgggg gcaggcagca gcgtctgtct
      421 gatgggaccc aggaatctat catcaccctg ccccacctca accacactca ggcctttctc
      481 tcctgctgcc tgaactgggg caacagcctg cagatcctgg accaggttga gctgcgcgca
      541 ggctaccctc cagccatacc ccacaacctc tcctgcctca tgaacctcac aaccagcagc
      601 ctcatctgcc agtgggagcc aggacctgag acccacctac ccaccagctt cactctgaag
      661 agtttcaaga gccggggcaa ctgtcagacc caaggggact ccatcctgga ctgcgtgccc
      721 aaggacgggc agagccactg ctgcatccca cgcaaacacc tgctgttgta ccagaatatg
      781 ggcatctggg tgcaggcaga gaatgcgctg gggaccagca tgtccccaca actgtgtctt
      841 gatcccatgg atgttgtgaa actggagccc cccatgctgc ggaccatgga ccccagccct
      901 gaagcggccc ctccccaggc aggctgccta cagctgtgct gggagccatg gcagccaggc
      961 ctgcacataa atcagaagtg tgagctgcgc cacaagccgc agcgtggaga agccagctgg
     1021 gcactggtgg gccccctccc cttggaggcc cttcagtatg agctctgcgg gctcctccca
     1081 gccacggcct acaccctgca gatacgctgc atccgctggc ccctgcctgg ccactggagc
     1141 gactggagcc ccagcctgga gctgagaact accgaacggg cccccactgt cagactggac
     1201 acatggtggc ggcagaggca gctggacccc aggacagtgc agctgttctg gaagccagtg
     1261 cccctggagg aagacagcgg acggatccaa ggttatgtgg tttcttggag accctcaggc
     1321 caggctgggg ccatcctgcc cctctgcaac accacagagc tcagctgcac cttccacctg
     1381 ccttcagaag cccaggaggt ggcccttgtg gcctataact cagccgggac ctctcgtccc
     1441 actccggtgg tcttctcaga aagcagaggc ccagctctga ccagactcca tgccatggcc
     1501 cgagaccctc acagcctctg ggtaggctgg gagcccccca atccatggcc tcagggctat
     1561 gtgattgagt ggggcctggg cccccccagc gcgagcaata gcaacaagac ctggaggatg
     1621 gaacagaatg ggagagccac ggggtttctg ctgaaggaga acatcaggcc ctttcagctc
     1681 tatgagatca tcgtgactcc cttgtaccag gacaccatgg gaccctccca gcatgtctat
     1741 gcctactctc aagaaatggc tccctcccat gccccagagc tgcatctaaa gcacattggc
     1801 aagacctggg cacagctgga gtgggtgcct gagccccctg agctggggaa gagccccctt
     1861 acccactaca ccatcttctg gaccaacgct cagaaccagt ccttctccgc catcctgaat
     1921 gcctcctccc gtggctttgt cctccatggc ctggagcccg ccagtctgta tcacatccac
     1981 ctcatggctg ccagccaggc tggggccacc aacagtacag tcctcaccct gatgaccttg
     2041 accccagagg ggtcggagct acacatcatc ctgggcctgt tcggcctcct gctgttgctc
     2101 acctgcctct gtggaactgc ctggctctgt tgcagcccca acaggaagaa tcccctctgg
     2161 ccaagtgtcc cagacccagc tcacagcagc ctgggctcct gggtgcccac aatcatggag
     2221 gaggatgcct tccagctgcc cggccttggc acgccaccca tcaccaagct cacagtgctg
     2281 gaggaggatg aaaagaagcc ggtgccctgg gagtcccata acagctcaga gacctgtggc
     2341 ctccccactc tggtccagac ctatgtgctc cagggggacc caagagcagt ttccacccag
     2401 ccccaatccc agtctggcac cagcgatcag gtcctttatg ggcagctgct gggcagcccc
     2461 acaagcccag ggccagggca ctatctccgc tgtgactcca ctcagcccct cttggcgggc
     2521 ctcaccccca gccccaagtc ctatgagaac ctctggttcc aggccagccc cttggggacc
     2581 ctggtaaccc cagccccaag ccaggaggac gactgtgtct ttgggccact gctcaacttc
     2641 cccctcctgc aggggatccg ggtccatggg atggaggcgc tggggagctt ctagggcttc
     2701 ctggggttcc cttcttgggc ctgcctctta aaggcctgag ctagctggag aagaggggag
     2761 ggtccataag cccatgacta aaaactaccc cagcccaggc tctcaccatc tccagtcacc
     2821 agcatctccc tctcctccca atctccatag gctgggcctc ccaggcgatc tgcatacttt
     2881 aaggaccaga tcatgctcca tccagcccca cccaatggcc ttttgtgctt gtttcctata
     2941 acttcagtat tgtaaactag tttttggttt gcagtttttg ttgttgttta tagacactct
     3001 tgggtgta
//
