LOCUS       NM_001890                998 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.
ACCESSION   NM_001890
VERSION     NM_001890.2
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 998)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 998)
  AUTHORS   Konig,S., Altendorfer,I., Saenger,T., Bleck,E., Vordenbaumen,S.,
            Schneider,M. and Jose,J.
  TITLE     Ser71 of alphaS1-Casein is Phosphorylated in Breast Milk-Evidence
            from Targeted Mass Analysis
  JOURNAL   Mol Nutr Food Res 61 (12) (2017)
   PUBMED   28786558
  REMARK    GeneRIF: Serine-71 in alpha-S1 casein is phosphorylated in the
            breast milk.
REFERENCE   3  (bases 1 to 998)
  AUTHORS   Adler,K., Mueller,D.B., Achenbach,P., Krause,S., Heninger,A.K.,
            Ziegler,A.G. and Bonifacio,E.
  TITLE     Insulin autoantibodies with high affinity to the bovine milk
            protein alpha casein
  JOURNAL   Clin Exp Immunol 164 (1), 42-49 (2011)
   PUBMED   21361910
  REMARK    GeneRIF: Results suggest that autoimmunity to insulin can occur
            infrequently via cross-reactivity to food protein alpha casein.
REFERENCE   4  (bases 1 to 998)
  AUTHORS   Vordenbaumen,S., Braukmann,A., Petermann,K., Scharf,A., Bleck,E.,
            von Mikecz,A., Jose,J. and Schneider,M.
  TITLE     Casein alpha s1 is expressed by human monocytes and upregulates the
            production of GM-CSF via p38 MAPK
  JOURNAL   J Immunol 186 (1), 592-601 (2011)
   PUBMED   21135174
  REMARK    GeneRIF: Casein alpha s1 is expressed in human monocytes and
            stimulates expression of proinflammatory cytokine
            granulocyte-macrophage colony-stimulating factor (GM-CSF) via an
            immunomodulatory role beyond the nutritional function of CSN1S1 in
            milk.
REFERENCE   5  (bases 1 to 998)
  AUTHORS   Xu,K., Ling,M.T., Wang,X. and Wong,Y.C.
  TITLE     Evidence of a novel biomarker, alphas1-Casein, a milk protein, in
            benign prostate hyperplasia
  JOURNAL   Prostate Cancer Prostatic Dis 9 (3), 293-297 (2006)
   PUBMED   16683014
  REMARK    GeneRIF: alphas1-Casein may be a potential biomarker for early
            identification of BPH patients.
REFERENCE   6  (bases 1 to 998)
  AUTHORS   Murakami,K., Lagarde,M. and Yuki,Y.
  TITLE     Identification of minor proteins of human colostrum and mature milk
            by two-dimensional electrophoresis
  JOURNAL   Electrophoresis 19 (14), 2521-2527 (1998)
   PUBMED   9820977
REFERENCE   7  (bases 1 to 998)
  AUTHORS   Fujiwara,Y., Miwa,M., Nogami,M., Okumura,K., Nobori,T., Suzuki,T.
            and Ueda,M.
  TITLE     Genomic organization and chromosomal localization of the human
            casein gene family
  JOURNAL   Hum Genet 99 (3), 368-373 (1997)
   PUBMED   9050925
REFERENCE   8  (bases 1 to 998)
  AUTHORS   Johnsen,L.B., Rasmussen,L.K., Petersen,T.E. and Berglund,L.
  TITLE     Characterization of three types of human alpha s1-casein mRNA
            transcripts
  JOURNAL   Biochem J 309 (Pt 1) (Pt 1), 237-242 (1995)
   PUBMED   7619062
REFERENCE   9  (bases 1 to 998)
  AUTHORS   Chen,C.S., Bejcek,B.E. and Kersey,J.H.
  TITLE     A mapping study of 13 genes on human chromosome bands 4q11-->q25
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 260-265 (1995)
   PUBMED   7698025
REFERENCE   10 (bases 1 to 998)
  AUTHORS   Cavaletto,M., Cantisani,A., Giuffrida,G., Napolitano,L. and
            Conti,A.
  TITLE     Human alpha S1-casein like protein: purification and N-terminal
            sequence determination
  JOURNAL   Biol Chem Hoppe Seyler 375 (2), 149-151 (1994)
   PUBMED   8192860
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC108941.4 and X78416.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001890.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: X78416.1, U23157.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMN02400288
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246891.9/ ENSP00000246891.4
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC108941.4         150477-150489
            14-994              X78416.1           1-981
            995-998             AC108941.4         165980-165983
FEATURES             Location/Qualifiers
     source          1..998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..998
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /note="casein alpha s1"
                     /db_xref="GeneID:1446"
                     /db_xref="HGNC:HGNC:2445"
                     /db_xref="MIM:115450"
     exon            1..50
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            51..113
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..620
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; casein, alpha; alpha-S1-casein"
                     /codon_start=1
                     /product="alpha-S1-casein isoform 1 precursor"
                     /protein_id="NP_001881.1"
                     /db_xref="CCDS:CCDS47067.1"
                     /db_xref="GeneID:1446"
                     /db_xref="HGNC:HGNC:2445"
                     /db_xref="MIM:115450"
                     /translation="MRLLILTCLVAVALARPKLPLRYPERLQNPSESSEPIPLESREE
                     YMNGMNRQRNILREKQTDEIKDTRNESTQNCVVAEPEKMESSISSSSEEMSLSKCAEQ
                     FCRLNEYNQLQLQAAHAQEQIRRMNENSHVQVPFQQLNQLAAYPYAVWYYPQIMQYVP
                     FPPFSDISNPTAHENYEKNNVMLQW"
     exon            114..146
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            147..167
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            168..191
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            192..215
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            216..257
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            258..281
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            282..305
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            306..338
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            339..362
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            363..404
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            405..422
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            423..464
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            465..619
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            620..998
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      980..985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /note="hexamer: ATTACA"
     polyA_site      998
                     /gene="CSN1S1"
                     /gene_synonym="CASA; CSN1"
                     /note="major polyA site"
ORIGIN      
        1 atcatcttgg tcatcaacac aacttgcttc tctccagact tgggcttaag gctctgataa
       61 ccatgaggct tctcattctc acctgtcttg tggctgttgc tcttgccagg cctaaacttc
      121 ctcttagata cccagaacgc cttcagaatc catcagagag cagtgagcct ataccattag
      181 aatcaagaga ggaatacatg aatggtatga acaggcagag aaacattctg agagaaaaac
      241 agactgatga aatcaaggat actaggaatg agtctactca gaactgtgtt gtggcagagc
      301 ctgagaagat ggaatccagc atcagttcat cgagtgagga aatgtctctc agtaagtgtg
      361 cggaacagtt ttgtagactg aacgaataca accaacttca gctgcaagct gcccatgccc
      421 aggagcaaat tcgcagaatg aatgaaaaca gccatgtcca agtgcctttc cagcagctca
      481 accaacttgc tgcctacccc tatgctgttt ggtactatcc acaaatcatg cagtatgttc
      541 ctttcccacc gttttccgac atctccaatc ccactgctca tgaaaattat gaaaaaaata
      601 acgtcatgct acagtggtga tatgattgaa aatttcattc tctgaatttc tcctctcaag
      661 gaaaaccatc ttatctgaag actggactgt tgttttagaa tagtaaaatc ccatattgaa
      721 ggaaattgtt ctttttgagt tatctactta atagcatatc attctttttc ttaagctaaa
      781 ttttcctaga gagtttattg tctaaatttc agttgtgtct tgccatatgg agggcaccta
      841 atcagagggt attaaagtgt ttactaagtt ttctagtgga cattttgttt aaaaagtctt
      901 tgaattgcca gttctgtaag tgccatcaat taaaatagtt ttgtgcagtg acagagattt
      961 tcttttttct tttcaataaa ttacacttta aggcaaaa
//
