LOCUS       NM_001379159            1579 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens colony stimulating factor 2 receptor subunit alpha
            (CSF2RA), transcript variant 17, mRNA.
ACCESSION   NM_001379159
VERSION     NM_001379159.1
KEYWORDS    RefSeq.
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 1579)
  AUTHORS   Shima,K., Arumugam,P., Sallese,A., Horio,Y., Ma,Y., Trapnell,C.,
            Wessendarp,M., Chalk,C., McCarthy,C., Carey,B.C., Trapnell,B.C. and
            Suzuki,T.
  TITLE     A murine model of hereditary pulmonary alveolar proteinosis caused
            by homozygous Csf2ra gene disruption
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 322 (3), L438-L448 (2022)
   PUBMED   35043685
  REMARK    GeneRIF: A murine model of hereditary pulmonary alveolar
            proteinosis caused by homozygous Csf2ra gene disruption.
REFERENCE   2  (bases 1 to 1579)
  AUTHORS   Evren,E., Ringqvist,E., Doisne,J.M., Thaller,A., Sleiers,N.,
            Flavell,R.A., Di Santo,J.P. and Willinger,T.
  TITLE     CD116+ fetal precursors migrate to the perinatal lung and give rise
            to human alveolar macrophages
  JOURNAL   J Exp Med 219 (2) (2022)
   PUBMED   35019940
  REMARK    GeneRIF: CD116+ fetal precursors migrate to the perinatal lung and
            give rise to human alveolar macrophages.
REFERENCE   3  (bases 1 to 1579)
  AUTHORS   van Helvoort,E.M., Eijkelkamp,N., Lafeber,F.P.J.G. and
            Mastbergen,S.C.
  TITLE     Expression of granulocyte macrophage-colony stimulating factor and
            its receptor in the synovium of osteoarthritis patients is
            negatively correlated with pain
  JOURNAL   Rheumatology (Oxford) 59 (11), 3452-3457 (2020)
   PUBMED   32365364
  REMARK    GeneRIF: Expression of granulocyte macrophage-colony stimulating
            factor and its receptor in the synovium of osteoarthritis patients
            is negatively correlated with pain.
REFERENCE   4  (bases 1 to 1579)
  AUTHORS   Huang,R., Cao,Y., Li,H., Hu,Z., Zhang,H., Zhang,L., Su,W., Xu,Y.,
            Liang,L., Melgiri,N.D., Jiang,L. and Li,X.
  TITLE     miR-532-3p-CSF2RA Axis as a Key Regulator of Vulnerable
            Atherosclerotic Plaque Formation
  JOURNAL   Can J Cardiol 36 (11), 1782-1794 (2020)
   PUBMED   32473103
  REMARK    GeneRIF: miR-532-3p-CSF2RA Axis as a Key Regulator of Vulnerable
            Atherosclerotic Plaque Formation.
REFERENCE   5  (bases 1 to 1579)
  AUTHORS   De Alessandris,S., Ferguson,G.J., Dodd,A.J., Juss,J.K.,
            Devaprasad,A., Piper,S., Wyatt,O., Killick,H., Corkill,D.J.,
            Cohen,E.S., Pandit,A., Radstake,T.R.D.J., Simmonds,R.,
            Condliffe,A.M., Sleeman,M.A., Cowburn,A.S., Finch,D.K. and
            Chilvers,E.R.
  TITLE     Neutrophil GM-CSF receptor dynamics in acute lung injury
  JOURNAL   J Leukoc Biol 105 (6), 1183-1194 (2019)
   PUBMED   30942918
  REMARK    GeneRIF: These data show that loss of membrane GM-CSFRalpha
            following GM-CSF exposure does not preclude sustained
            GM-CSF/GM-CSFRalpha signaling and that this receptor plays a key
            role in ligand clearance. Hence neutrophilic activation via GM-CSFR
            may play an important role in neutrophilic lung inflammation even
            in the absence of high GM-CSF levels or GM-CSFRalpha expression.
REFERENCE   6  (bases 1 to 1579)
  AUTHORS   Rappold,G., Willson,T.A., Henke,A. and Gough,N.M.
  TITLE     Arrangement and localization of the human GM-CSF receptor alpha
            chain gene CSF2RA within the X-Y pseudoautosomal region
  JOURNAL   Genomics 14 (2), 455-461 (1992)
   PUBMED   1358805
REFERENCE   7  (bases 1 to 1579)
  AUTHORS   Raines,M.A., Liu,L., Quan,S.G., Joe,V., DiPersio,J.F. and
            Golde,D.W.
  TITLE     Identification and molecular cloning of a soluble human
            granulocyte-macrophage colony-stimulating factor receptor
  JOURNAL   Proc Natl Acad Sci U S A 88 (18), 8203-8207 (1991)
   PUBMED   1832774
REFERENCE   8  (bases 1 to 1579)
  AUTHORS   Crosier,K.E., Wong,G.G., Mathey-Prevot,B., Nathan,D.G. and
            Sieff,C.A.
  TITLE     A functional isoform of the human granulocyte/macrophage
            colony-stimulating factor receptor has an unusual cytoplasmic
            domain
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7744-7748 (1991)
   PUBMED   1715577
REFERENCE   9  (bases 1 to 1579)
  AUTHORS   Hayashida,K., Kitamura,T., Gorman,D.M., Arai,K., Yokota,T. and
            Miyajima,A.
  TITLE     Molecular cloning of a second subunit of the receptor for human
            granulocyte-macrophage colony-stimulating factor (GM-CSF):
            reconstitution of a high-affinity GM-CSF receptor
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9655-9659 (1990)
   PUBMED   1702217
REFERENCE   10 (bases 1 to 1579)
  AUTHORS   Gough,N.M., Gearing,D.P., Nicola,N.A., Baker,E., Pritchard,M.,
            Callen,D.F. and Sutherland,G.R.
  TITLE     Localization of the human GM-CSF receptor gene to the X-Y
            pseudoautosomal region
  JOURNAL   Nature 345 (6277), 734-736 (1990)
   PUBMED   1972780
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX649553.6 and BX901885.7.
            
            Summary: The protein encoded by this gene is the alpha subunit of
            the heterodimeric receptor for colony stimulating factor 2, a
            cytokine which controls the production, differentiation, and
            function of granulocytes and macrophages. The encoded protein is a
            member of the cytokine family of receptors. This gene is found in
            the pseudoautosomal region (PAR) of the X and Y chromosomes.
            Multiple transcript variants encoding different isoforms have been
            found for this gene, with some of the isoforms being membrane-bound
            and others being soluble. [provided by RefSeq, Jul 2008].
            
            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##
            RNAseq introns :: partial sample support SAMEA2146236, SAMEA2162823
                              [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                BX649553.6         41816-41881
            67-130              BX649553.6         47757-47820
            131-232             BX649553.6         55680-55781
            233-375             BX649553.6         58780-58922
            376-499             BX649553.6         61521-61644
            500-629             BX649553.6         61761-61890
            630-802             BX649553.6         63339-63511
            803-936             BX649553.6         67330-67463
            937-966             BX649553.6         68429-68458
            967-1102            BX649553.6         73493-73628
            1103-1199           BX649553.6         76925-77021
            1200-1281           BX649553.6         78448-78529
            1282-1388           BX901885.7         389-495
            1389-1579           BX901885.7         13148-13338
FEATURES             Location/Qualifiers
     source          1..1579
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     gene            1..1579
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /note="colony stimulating factor 2 receptor subunit alpha"
                     /db_xref="GeneID:1438"
                     /db_xref="HGNC:HGNC:2435"
                     /db_xref="MIM:306250"
                     /db_xref="MIM:425000"
     exon            1..66
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            67..130
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            131..232
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             157..1350
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /note="isoform i precursor is encoded by transcript
                     variant 17; granulocyte-macrophage colony-stimulating
                     factor receptor alpha chain; CD116 antigen; GM-CSF
                     receptor alpha subunit; granulocyte-macrophage
                     colony-stimulating factor receptor subunit alpha; colony
                     stimulating factor 2 receptor, alpha, low-affinity
                     (granulocyte-macrophage); alpha-GM-CSF receptor; colony
                     stimulating factor 2 receptor alpha subunit"
                     /codon_start=1
                     /product="granulocyte-macrophage colony-stimulating factor
                     receptor subunit alpha isoform i precursor"
                     /protein_id="NP_001366088.1"
                     /db_xref="GeneID:1438"
                     /db_xref="HGNC:HGNC:2435"
                     /db_xref="MIM:306250"
                     /db_xref="MIM:425000"
                     /translation="MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRT
                     MNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQ
                     RGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRR
                     REIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERF
                     NPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGD
                     LENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVG
                     TLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEAHGDTPESSLHGNIPGI
                     KVLLP"
     exon            233..375
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            376..499
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            500..629
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            630..802
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            803..936
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            937..966
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1102
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1199
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1281
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1388
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /note="hexamer: AATAAA"
     polyA_site      1349
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /note="major polyA site"
     exon            1389..1579
                     /gene="CSF2RA"
                     /gene_synonym="alphaGMR; CD116; CDw116; CSF2R; CSF2RAX;
                     CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR;
                     GMCSFR-alpha; GMR; GMR-alpha; SMDP4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 actcagaagc gggagtctcc gagagaagaa aagcaggtgg aaggagagga agcggatgcc
       61 gtggggttta cagcaggaaa atccgtggag acagcagatc cgagaagcgg cgatgtttgc
      121 gtagaaccct ctcttccctt ctctctgacc agcaccatgc ttctcctggt gacaagcctt
      181 ctgctctgtg agttaccaca cccagcattc ctcctgatcc cagagaaatc ggatctgcga
      241 acagtggcac cagcctctag tctcaatgtg aggtttgact ccaggacgat gaatttaagc
      301 tgggactgcc aagaaaacac aaccttcagc aagtgtttct taactgacaa gaagaacaga
      361 gtcgtggaac ccaggctcag taacaacgaa tgttcgtgca catttcgtga aatttgtctg
      421 catgaaggag tcacatttga ggttcacgtg aatactagtc aaagaggatt tcaacagaaa
      481 ctgctttatc caaattcagg aagggagggt accgctgctc agaatttctc ctgtttcatc
      541 tacaatgcgg atttaatgaa ctgtacctgg gcgaggggtc cgacggcccc ccgtgacgtc
      601 cagtattttt tgtacatacg aaactcaaag agaaggaggg agatccggtg tccttattac
      661 atacaagact caggaaccca tgtgggatgt cacctggata acctgtcagg attaacgtct
      721 cgcaattact ttctggttaa cggaaccagc cgagaaattg gcatccaatt ctttgattca
      781 cttttggaca caaagaaaat agaacgattc aaccctccca gcaatgtcac cgtacgttgc
      841 aacacgacgc actgcctcgt acggtggaaa cagcccagga cctatcagaa gctgtcgtac
      901 ctggactttc agtaccagct ggacgtccac agaaagaata cccagcctgg cacggaaaac
      961 ctactgatta atgtttctgg tgatttggaa aatagataca actttccaag ctctgagccc
     1021 agagcaaaac acagtgtgaa gatcagagct gcagacgtcc gcatcttgaa ttggagctcc
     1081 tggagtgaag ccattgaatt tggttctgac gacgggaacc tcggctctgt gtacatttat
     1141 gtgctcctaa tcgtgggaac ccttgtctgt ggcatcgtcc tcggcttcct ctttaaaagg
     1201 ttccttagga tacagcggct gttcccgcca gttccacaga tcaaagacaa actgaatgat
     1261 aaccatgagg tggaagacga ggcccacggg gacactccag aatcatctct ccatggcaat
     1321 atccctggaa taaaagtcct ccttccatag agagcattct gtaatgtgtc cacagcatgc
     1381 ttatccaggt tttccagaga ggtgtacctg gtgccccgtc ctgagttgaa aacaaaacat
     1441 actttgcgcc gtggctcacg cctgtcatcc cagcactttg ggaggccgag acgggcggat
     1501 caagaggtcg ggagatcgag accagcctgg ccaacgtgtt gaaacccccg tctctactaa
     1561 aatacacaaa aaaattagc
//
