LOCUS       NM_001756               1477 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens serpin family A member 6 (SERPINA6), mRNA.
ACCESSION   NM_001756
VERSION     NM_001756.4
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 1477)
  AUTHORS   Chernykh,A., Abrahams,J.L., Grant,O.C., Kambanis,L.,
            Sumer-Bayraktar,Z., Ugonotti,J., Kawahara,R., Corcilius,L.,
            Payne,R.J., Woods,R.J. and Thaysen-Andersen,M.
  TITLE     Position-specific N- and O-glycosylation of the reactive center
            loop impacts neutrophil elastase-mediated proteolysis of
            corticosteroid-binding globulin
  JOURNAL   J Biol Chem 300 (1), 105519 (2024)
   PUBMED   38042488
  REMARK    GeneRIF: Position-specific N- and O-glycosylation of the reactive
            center loop impacts neutrophil elastase-mediated proteolysis of
            corticosteroid-binding globulin.
REFERENCE   2  (bases 1 to 1477)
  AUTHORS   Bankier,S., Wang,L., Crawford,A., Morgan,R.A., Ruusalepp,A.,
            Andrew,R., Bjorkegren,J.L.M., Walker,B.R. and Michoel,T.
  TITLE     Plasma cortisol-linked gene networks in hepatic and adipose tissues
            implicate corticosteroid-binding globulin in modulating tissue
            glucocorticoid action and cardiovascular risk
  JOURNAL   Front Endocrinol (Lausanne) 14, 1186252 (2023)
   PUBMED   37745713
  REMARK    GeneRIF: Plasma cortisol-linked gene networks in hepatic and
            adipose tissues implicate corticosteroid-binding globulin in
            modulating tissue glucocorticoid action and cardiovascular risk.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1477)
  AUTHORS   Carpena,M.X., Sanchez-Luquez,K.Y., Martins-Silva,T., Santos,T.M.,
            Farias,C.P., Leventhal,D.G.P., Berruti,B., Zeni,C.P., Schmitz,M.,
            Chazan,R., Hutz,M.H., Salatino-Oliveira,A., Genro,J.P., Rohde,L.A.
            and Tovo-Rodrigues,L.
  TITLE     Stress-related genetic components in
            attention-deficit/hyperactivity disorder (ADHD): Effects of the
            SERPINA6 and SERPINA1 genetic markers in a family-based brazilian
            sample
  JOURNAL   J Psychiatr Res 149, 1-9 (2022)
   PUBMED   35217314
  REMARK    GeneRIF: Stress-related genetic components in
            attention-deficit/hyperactivity disorder (ADHD): Effects of the
            SERPINA6 and SERPINA1 genetic markers in a family-based brazilian
            sample.
REFERENCE   4  (bases 1 to 1477)
  AUTHORS   Crawford,A.A., Bankier,S., Altmaier,E., Barnes,C.L.K., Clark,D.W.,
            Ermel,R., Friedrich,N., van der Harst,P., Joshi,P.K., Karhunen,V.,
            Lahti,J., Mahajan,A., Mangino,M., Nethander,M., Neumann,A.,
            Pietzner,M., Sukhavasi,K., Wang,C.A., Bakker,S.J.L.,
            Bjorkegren,J.L.M., Campbell,H., Eriksson,J., Gieger,C., Hayward,C.,
            Jarvelin,M.R., McLachlan,S., Morris,A.P., Ohlsson,C., Pennell,C.E.,
            Price,J., Rudan,I., Ruusalepp,A., Spector,T., Tiemeier,H.,
            Volzke,H., Wilson,J.F., Michoel,T., Timpson,N.J., Smith,G.D. and
            Walker,B.R.
  CONSRTM   CORtisol NETwork (CORNET) consortium
  TITLE     Variation in the SERPINA6/SERPINA1 locus alters morning plasma
            cortisol, hepatic corticosteroid binding globulin expression, gene
            expression in peripheral tissues, and risk of cardiovascular
            disease
  JOURNAL   J Hum Genet 66 (6), 625-636 (2021)
   PUBMED   33469137
  REMARK    GeneRIF: Variation in the SERPINA6/SERPINA1 locus alters morning
            plasma cortisol, hepatic corticosteroid binding globulin
            expression, gene expression in peripheral tissues, and risk of
            cardiovascular disease.
REFERENCE   5  (bases 1 to 1477)
  AUTHORS   Meyer,E.J., Torpy,D.J., Chernykh,A., Thaysen-Andersen,M.,
            Nenke,M.A., Lewis,J.G., Rajapaksha,H., Rankin,W. and Polyak,S.W.
  TITLE     Pyrexia and acidosis act independently of neutrophil elastase
            reactive center loop cleavage to effect cortisol release from
            corticosteroid-binding globulin
  JOURNAL   Protein Sci 29 (12), 2495-2509 (2020)
   PUBMED   33085168
  REMARK    GeneRIF: Pyrexia and acidosis act independently of neutrophil
            elastase reactive center loop cleavage to effect cortisol release
            from corticosteroid-binding globulin.
REFERENCE   6  (bases 1 to 1477)
  AUTHORS   Smith,C.L., Power,S.G. and Hammond,G.L.
  TITLE     A Leu----His substitution at residue 93 in human corticosteroid
            binding globulin results in reduced affinity for cortisol
  JOURNAL   J Steroid Biochem Mol Biol 42 (7), 671-676 (1992)
   PUBMED   1504007
REFERENCE   7  (bases 1 to 1477)
  AUTHORS   Seralini,G.E., Berube,D., Gagne,R. and Hammond,G.L.
  TITLE     The human corticosteroid binding globulin gene is located on
            chromosome 14q31-q32.1 near two other serine protease inhibitor
            genes
  JOURNAL   Hum Genet 86 (1), 73-75 (1990)
   PUBMED   2253941
REFERENCE   8  (bases 1 to 1477)
  AUTHORS   Brotherton,J.
  TITLE     Cortisol and transcortin in human seminal plasma and amniotic fluid
            as estimated by modern specific assays
  JOURNAL   Andrologia 22 (3), 197-204 (1990)
   PUBMED   2240617
REFERENCE   9  (bases 1 to 1477)
  AUTHORS   Underhill,D.A. and Hammond,G.L.
  TITLE     Organization of the human corticosteroid binding globulin gene and
            analysis of its 5'-flanking region
  JOURNAL   Mol Endocrinol 3 (9), 1448-1454 (1989)
   PUBMED   2608068
REFERENCE   10 (bases 1 to 1477)
  AUTHORS   Rosner,W., Beers,P.C., Awan,T. and Khan,M.S.
  TITLE     Identification of corticosteroid-binding globulin in human milk:
            measurement with a filter disk assay
  JOURNAL   J Clin Endocrinol Metab 42 (6), 1064-1073 (1976)
   PUBMED   932172
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL117259.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001756.3.
            
            Summary: This gene encodes an alpha-globulin protein with
            corticosteroid-binding properties. This is the major transport
            protein for glucorticoids and progestins in the blood of most
            vertebrates. The gene localizes to a chromosomal region containing
            several closely related serine protease inhibitors which may have
            evolved by duplication events. [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##
            Transcript exon combination :: SRR5189664.100985.1,
                                           SRR5189664.110076.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341584.4/ ENSP00000342850.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AL117259.6         67236-67305
            71-702              AL117259.6         75905-76536
            703-973             AL117259.6         80566-80836
            974-1121            AL117259.6         84354-84501
            1122-1477           AL117259.6         85969-86324
FEATURES             Location/Qualifiers
     source          1..1477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     gene            1..1477
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /note="serpin family A member 6"
                     /db_xref="GeneID:866"
                     /db_xref="HGNC:HGNC:1540"
                     /db_xref="MIM:122500"
     exon            1..70
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /inference="alignment:Splign:2.1.0"
     exon            71..702
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1307
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /note="serine (or cysteine) proteinase inhibitor, clade A
                     (alpha-1 antiproteinase, antitrypsin), member 6;
                     transcortin; corticosteroid-binding globulin; serpin A6;
                     serpin peptidase inhibitor, clade A (alpha-1
                     antiproteinase, antitrypsin), member 6"
                     /codon_start=1
                     /product="corticosteroid-binding globulin precursor"
                     /protein_id="NP_001747.3"
                     /db_xref="CCDS:CCDS9924.1"
                     /db_xref="GeneID:866"
                     /db_xref="HGNC:HGNC:1540"
                     /db_xref="MIM:122500"
                     /translation="MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANV
                     DFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTERSE
                     TEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
                     QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTRE
                     ENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTV
                     IAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRI
                     TQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFT
                     WSSLFLARVMNPV"
     exon            703..973
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1121
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1477
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1455..1460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /note="hexamer: AATAAA"
     polyA_site      1477
                     /gene="SERPINA6"
                     /gene_synonym="CBG"
                     /note="major polyA site"
ORIGIN      
        1 actgtacaca tgctagggtc caggacagca ggaccaagcc agcagaaaca gcctgagccc
       61 accgcagact ggcctggcta tactggacaa tgccactcct cctgtacacc tgtcttctct
      121 ggctgcccac cagcggcctc tggaccgtcc aggccatgga tcctaacgct gcttatgtga
      181 acatgagtaa ccatcaccgg ggcctggctt cagccaacgt tgactttgcc ttcagcctgt
      241 ataagcacct agtggccttg agtcccaaaa agaacatttt catctcccct gtgagcatct
      301 ccatggcctt agctatgctg tccctgggca cctgtggcca cacacgggcc cagcttctcc
      361 agggcctggg tttcaacctc actgagaggt ctgagactga gatccaccag ggtttccagc
      421 acctgcacca actctttgca aagtcagaca ccagcttaga aatgaccatg ggcaatgcct
      481 tgtttcttga tggcagcctg gagttgctgg agtcattctc agcagacatc aagcactact
      541 atgagtcaga ggtcttggct atgaatttcc aggactgggc aacagccagc agacagatca
      601 acagctatgt caagaataag acacagggga aaattgtcga cttgttttca gggctggata
      661 gcccagccat cctcgtcctg gtcaactata tcttcttcaa aggcacatgg acacagccct
      721 ttgacctggc aagcaccagg gaggagaact tctatgtgga cgagacaact gtggtgaagg
      781 tgcccatgat gttgcagtcg agcaccatca gttaccttca tgactcggag ctcccctgcc
      841 agctggtgca gatgaactac gtgggcaatg ggactgtctt cttcatcctt ccggacaagg
      901 ggaagatgaa cacagtcatc gctgcactga gccgggacac gattaacagg tggtccgcag
      961 gcctgaccag cagccaggtg gacctgtaca ttccaaaggt caccatctct ggagtctatg
     1021 acctcggaga tgtgctggag gaaatgggca ttgcagactt gttcaccaac caggcaaatt
     1081 tctcacgcat cacccaggac gcccagctga agtcatcaaa ggtggtccat aaagctgtgc
     1141 tgcaactcaa tgaggagggt gtggacacag ctggctccac tggggtcacc ctaaacctga
     1201 cgtccaagcc tatcatcttg cgtttcaacc agcccttcat catcatgatc ttcgaccact
     1261 tcacctggag cagccttttc ctggcgaggg ttatgaaccc agtgtaagag accacccacc
     1321 cagagcctca gcactgtctg actttgggaa ccagggatcc cacagaaatg ttttggagag
     1381 cgggaggttt cccccaatct cctccaagtt cttctccctc caaccagagt tgtgtctaac
     1441 tttaggcatc ttttaataaa tgtcattgcg actctga
//
