LOCUS       NM_001318                658 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens chorionic somatomammotropin hormone like 1 (CSHL1),
            transcript variant 3, mRNA.
ACCESSION   NM_001318 NM_022578
VERSION     NM_001318.4
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 658)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   2  (bases 1 to 658)
  AUTHORS   Premzl,M.
  TITLE     Curated eutherian third party data gene data sets
  JOURNAL   Data Brief 6, 208-213 (2015)
   PUBMED   26862561
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 658)
  AUTHORS   Premzl,M.
  TITLE     Third party data gene data set of eutherian growth hormone genes
  JOURNAL   Genom Data 6, 166-169 (2015)
   PUBMED   26697363
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 658)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 658)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 658)
  AUTHORS   Misra-Press,A., Cooke,N.E. and Liebhaber,S.A.
  TITLE     Complex alternative splicing partially inactivates the human
            chorionic somatomammotropin-like (hCS-L) gene
  JOURNAL   J Biol Chem 269 (37), 23220-23229 (1994)
   PUBMED   8083227
REFERENCE   7  (bases 1 to 658)
  AUTHORS   MacLeod,J.N., Lee,A.K., Liebhaber,S.A. and Cooke,N.E.
  TITLE     Developmental control and alternative splicing of the placentally
            expressed transcripts from the human growth hormone gene cluster
  JOURNAL   J Biol Chem 267 (20), 14219-14226 (1992)
   PUBMED   1378436
REFERENCE   8  (bases 1 to 658)
  AUTHORS   Vnencak-Jones,C.L. and Phillips,J.A. 3rd.
  TITLE     Hot spots for growth hormone gene deletions in homologous regions
            outside of Alu repeats
  JOURNAL   Science 250 (4988), 1745-1748 (1990)
   PUBMED   1980158
REFERENCE   9  (bases 1 to 658)
  AUTHORS   Chen,E.Y., Liao,Y.C., Smith,D.H., Barrera-Saldana,H.A.,
            Gelinas,R.E. and Seeburg,P.H.
  TITLE     The human growth hormone locus: nucleotide sequence, biology, and
            evolution
  JOURNAL   Genomics 4 (4), 479-497 (1989)
   PUBMED   2744760
REFERENCE   10 (bases 1 to 658)
  AUTHORS   Hirt,H., Kimelman,J., Birnbaum,M.J., Chen,E.Y., Seeburg,P.H.,
            Eberhardt,N.L. and Barta,A.
  TITLE     The human growth hormone gene locus: structure, evolution, and
            allelic variations
  JOURNAL   DNA 6 (1), 59-70 (1987)
   PUBMED   3030680
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029365.1.
            
            On May 31, 2019 this sequence version replaced NM_001318.3.
            
            Summary: The protein encoded by this gene is a member of the
            somatotropin/prolactin family of hormones which play an important
            role in growth control. The gene, along with four other related
            genes, is located at the growth hormone locus on chromosome 17
            where they are interspersed in the same transcriptional
            orientation; an arrangement which is thought to have evolved by a
            series of gene duplications. Although the five genes share a
            remarkably high degree of sequence identity, they are expressed
            selectively in different tissues. This particular family member is
            expressed in placental villi, although it was originally thought to
            be a pseudogene. In fact, alternative splicing suggests that the
            majority of the transcripts would be unable to express a secreted
            protein. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (3), also known as CS-1-3N-4-5,
            has multiple differences in the coding region, but maintains the
            reading frame, compared to variant 1. The predicted isoform 3 has a
            shorter N-terminus and lacks a signal sequence, compared to isoform
            1. This variant is the predominant transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029365.1, ERR279827.7207.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398, SAMEA2162568
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-658               BC029365.1         1-658
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..658
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /note="chorionic somatomammotropin hormone like 1"
                     /db_xref="GeneID:1444"
                     /db_xref="HGNC:HGNC:2442"
                     /db_xref="MIM:603515"
     exon            1..72
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     exon            73..192
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..555
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /note="isoform 3 is encoded by transcript variant 3;
                     chorionic somatomammotropin CS-5; growth hormone cluster;
                     growth hormone B4; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="chorionic somatomammotropin hormone-like 1
                     isoform 3"
                     /protein_id="NP_001309.3"
                     /db_xref="CCDS:CCDS42370.1"
                     /db_xref="GeneID:1444"
                     /db_xref="HGNC:HGNC:2442"
                     /db_xref="MIM:603515"
                     /translation="MEETQQKSNLELLHISLLLIESRLEPVRFLRSTFTNNLVYDTSD
                     SDDYHLLKDLEEGIQMLMGRLEDGSHLTGQTLKQTYSKFDTNSHNHDALLKNYGLLHC
                     FRKDMDKVETFLRMVQCRSVEGSCGF"
     exon            193..357
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     exon            358..658
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      640..645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /note="hexamer: AATAAA"
     polyA_site      658
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /note="major polyA site"
ORIGIN      
        1 agcatcccaa ggcccgactc cccgcaccac tcagggtcct gtggacagct cacctagcgg
       61 caatggctgc aggaagaagc ctatatcaca aaggaacaga agtattcatt cctgcatgac
      121 tcccagacct ccttctgctt ctcagactct attccgacat cctccaacat ggaggaaacg
      181 cagcagaaat ccaacttaga gctgctccac atctccctgc tgctcatcga gtcgcggctg
      241 gagcccgtgc ggttcctcag gagtaccttc accaacaacc tggtgtatga cacctcggac
      301 agcgatgact atcacctcct aaaggaccta gaggaaggca tccaaatgct gatggggagg
      361 ctggaagacg gcagccacct gactgggcag accctcaagc agacctacag caagtttgac
      421 acaaactcgc acaaccatga cgcactgctc aagaactacg ggctgctcca ctgcttcagg
      481 aaggacatgg acaaggtcga gacattcctg cgcatggtgc agtgccgctc tgtggagggc
      541 agctgtggct tctaggggcc cgcgtggcat cctgtgaccc ctccccagtg cctctcctgg
      601 ccctgaaggt gccactccag tgcccaccag ccttgtctta ataaaattaa gttgtatt
//
