LOCUS       NM_022579                834 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens chorionic somatomammotropin hormone like 1 (CSHL1),
            transcript variant 1, mRNA.
ACCESSION   NM_022579
VERSION     NM_022579.3
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 834)
  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 834)
  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 834)
  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 834)
  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 834)
  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 834)
  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 834)
  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 834)
  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 834)
  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 834)
  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 BX382469.2, BG003306.1,
            AC127029.12 and BC029365.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022579.2.
            
            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 (1), also known as CS-L(L'),
            represents the longest transcript, and encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2149398,
                              SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309894.6/ ENSP00000309524.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BX382469.2         71-95
            26-107              BG003306.1         58-139              c
            108-252             AC127029.12        19874-20018         c
            253-368             AC127029.12        19549-19664         c
            369-834             BC029365.1         193-658
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..834
                     /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"
     CDS             63..731
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1 precursor"
                     /protein_id="NP_072101.1"
                     /db_xref="CCDS:CCDS11652.1"
                     /db_xref="GeneID:1444"
                     /db_xref="HGNC:HGNC:2442"
                     /db_xref="MIM:603515"
                     /translation="MAAGSRTSLLLAFALLCLPWLQEAGAVQTVPLSRLFKEAMLQAH
                     RAHQLAIDTYQEFISSWGMEAYITKEQKYSFLHDSQTSFCFSDSIPTSSNMEETQQKS
                     NLELLHISLLLIESRLEPVRFLRSTFTNNLVYDTSDSDDYHLLKDLEEGIQMLMGRLE
                     DGSHLTGQTLKQTYSKFDTNSHNHDALLKNYGLLHCFRKDMDKVETFLRMVQCRSVEG
                     SCGF"
     exon            73..252
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     exon            253..368
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     exon            369..533
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     exon            534..834
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      816..821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /note="hexamer: AATAAA"
     polyA_site      834
                     /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 aggctcccgg acgtccctgc tcctggcttt tgccctgctc tgcctgccct
      121 ggcttcaaga ggctggtgcc gtccaaaccg ttcccttatc caggcttttt aaagaggcta
      181 tgctccaagc ccatcgcgca caccagctgg ccattgacac ctaccaggag tttataagct
      241 cttggggaat ggaagcctat atcacaaagg aacagaagta ttcattcctg catgactccc
      301 agacctcctt ctgcttctca gactctattc cgacatcctc caacatggag gaaacgcagc
      361 agaaatccaa cttagagctg ctccacatct ccctgctgct catcgagtcg cggctggagc
      421 ccgtgcggtt cctcaggagt accttcacca acaacctggt gtatgacacc tcggacagcg
      481 atgactatca cctcctaaag gacctagagg aaggcatcca aatgctgatg gggaggctgg
      541 aagacggcag ccacctgact gggcagaccc tcaagcagac ctacagcaag tttgacacaa
      601 actcgcacaa ccatgacgca ctgctcaaga actacgggct gctccactgc ttcaggaagg
      661 acatggacaa ggtcgagaca ttcctgcgca tggtgcagtg ccgctctgtg gagggcagct
      721 gtggcttcta ggggcccgcg tggcatcctg tgacccctcc ccagtgcctc tcctggccct
      781 gaaggtgcca ctccagtgcc caccagcctt gtcttaataa aattaagttg tatt
//
