LOCUS       NM_000583               1685 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens GC vitamin D binding protein (GC), transcript variant
            1, mRNA.
ACCESSION   NM_000583
VERSION     NM_000583.4
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 1685)
  AUTHORS   Akbari,L.N., Kheirollahi,A., Vatannejad,A. and Hamidi,H.
  TITLE     Association of rs4588 polymorphism in vitamin D binding protein
            gene with polycystic ovarian syndrome in Iranian women: a
            case-control study
  JOURNAL   BMC Res Notes 17 (1), 207 (2024)
   PUBMED   39068475
  REMARK    GeneRIF: Association of rs4588 polymorphism in vitamin D binding
            protein gene with polycystic ovarian syndrome in Iranian women: a
            case-control study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1685)
  AUTHORS   Stroia,C.M., Ghitea,T.C., Vranceanu,M., Muresan,M.,
            Bimbo-Szuhai,E., Pallag,C.R. and Pallag,A.
  TITLE     Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and
            VDR, GC, and CYP2R1 Gene Polymorphisms
  JOURNAL   Nutrients 16 (9), 1272 (2024)
   PUBMED   38732523
  REMARK    GeneRIF: Relationship between Vitamin D3 Deficiency, Metabolic
            Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1685)
  AUTHORS   Banerjee,P., Singh,H., Tiwari,P., Sood,A., Midha,V., Singh,G.,
            Thelma,B.K. and Senapati,S.
  TITLE     Assessment of the contribution of VDR and VDBP/GC genes in the
            pathogenesis of celiac disease
  JOURNAL   J Genet 103 (2024)
   PUBMED   39445578
  REMARK    GeneRIF: Assessment of the contribution of VDR and VDBP/GC genes in
            the pathogenesis of celiac disease.
REFERENCE   4  (bases 1 to 1685)
  AUTHORS   Dogan,D., Ozcan,E.G., Cakir,D.U. and Silan,F.
  TITLE     Genetic influence on urinary vitamin D binding protein excretion
            and serum levels: a focus on rs4588 C>A polymorphism in the GC gene
  JOURNAL   Front Endocrinol (Lausanne) 14, 1281112 (2023)
   PUBMED   38144557
  REMARK    GeneRIF: Genetic influence on urinary vitamin D binding protein
            excretion and serum levels: a focus on rs4588 C>A polymorphism in
            the GC gene.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1685)
  AUTHORS   Kahar,L.A., Yusrawati,Y., Jamsari,J., Maskoen,T., Aribowo,K. and
            Sari,W.M.
  TITLE     Vitamin D-Binding Protein and the Role of its Gene Polymorphisms in
            the Mortality of Sepsis Patients
  JOURNAL   Acta Med Acad 52 (3), 212-220 (2023)
   PUBMED   38407088
  REMARK    GeneRIF: Vitamin D-Binding Protein and the Role of its Gene
            Polymorphisms in the Mortality of Sepsis Patients.
REFERENCE   6  (bases 1 to 1685)
  AUTHORS   Braun,A., Bichlmaier,R. and Cleve,H.
  TITLE     Molecular analysis of the gene for the human vitamin-D-binding
            protein (group-specific component): allelic differences of the
            common genetic GC types
  JOURNAL   Hum Genet 89 (4), 401-406 (1992)
   PUBMED   1352271
REFERENCE   7  (bases 1 to 1685)
  AUTHORS   Esteban,C., Geuskens,M., Ena,J.M., Mishal,Z., Macho,A., Torres,J.M.
            and Uriel,J.
  TITLE     Receptor-mediated uptake and processing of vitamin D-binding
            protein in human B-lymphoid cells
  JOURNAL   J Biol Chem 267 (14), 10177-10183 (1992)
   PUBMED   1374401
REFERENCE   8  (bases 1 to 1685)
  AUTHORS   Yang,F., Bergeron,J.M., Linehan,L.A., Lalley,P.A., Sakaguchi,A.Y.
            and Bowman,B.H.
  TITLE     Mapping and conservation of the group-specific component gene in
            mouse
  JOURNAL   Genomics 7 (4), 509-516 (1990)
   PUBMED   1696927
REFERENCE   9  (bases 1 to 1685)
  AUTHORS   Svasti,J., Kurosky,A., Bennett,A. and Bowman,B.H.
  TITLE     Molecular basis for the three major forms of human serum vitamin D
            binding protein (group-specific component)
  JOURNAL   Biochemistry 18 (8), 1611-1617 (1979)
   PUBMED   218624
REFERENCE   10 (bases 1 to 1685)
  AUTHORS   Mikkelsen,M., Jacobsen,P. and Henningsen,K.
  TITLE     Possible localization of Gc-System on chromosome 4. Loss of long
            arm 4 material associated with father-child incompatibility within
            the Gc-System
  JOURNAL   Hum Hered 27 (2), 105-107 (1977)
   PUBMED   558959
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X03178.1, AA702473.1 and
            AK223458.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000583.3.
            
            Summary: The protein encoded by this gene belongs to the albumin
            gene family. It is a multifunctional protein found in plasma,
            ascitic fluid, cerebrospinal fluid and on the surface of many cell
            types. It binds to vitamin D and its plasma metabolites and
            transports them to target tissues. Alternatively spliced transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) is a predominant transcript.
            This variant and variant 2 encode the same 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 :: SRR5189652.90602.1,
                                           SRR5189658.103485.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000273951.13/ ENSP00000273951.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1367              X03178.1           93-1459
            1368-1684           AA702473.1         1-317               c
            1685-1685           AK223458.1         1839-1839
FEATURES             Location/Qualifiers
     source          1..1685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..1685
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /note="GC vitamin D binding protein"
                     /db_xref="GeneID:2638"
                     /db_xref="HGNC:HGNC:4187"
                     /db_xref="MIM:139200"
     exon            1..119
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1486
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /EC_number="6.4.-.-"
                     /EC_number="6.3.1.5"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; vitamin D-binding alpha-globulin; epididymis
                     secretory protein Li 51; vitamin D-binding protein;
                     gc-globulin; gc protein-derived macrophage activating
                     factor; vitamin D-binding protein-macrophage activating
                     factor; group-specific component (vitamin D binding
                     protein)"
                     /codon_start=1
                     /product="vitamin D-binding protein isoform 1 precursor"
                     /protein_id="NP_000574.2"
                     /db_xref="CCDS:CCDS3550.1"
                     /db_xref="GeneID:2638"
                     /db_xref="HGNC:HGNC:4187"
                     /db_xref="MIM:139200"
                     /translation="MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLS
                     LVLYSRKFPSGTFEQVSQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPF
                     PVHPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFM
                     WEYSTNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNR
                     VCSQYAAYGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAK
                     ELPEHTVKLCDNLSTKNSKFEDCCQEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDV
                     CDPGNTKVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGECCDVEDSTTCFNAKGPLL
                     KKELSSFIDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPTELAKLVNKHSDFAS
                     NCCSINSPPLYCDSEIDAELKNIL"
     exon            120..189
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            190..322
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            323..534
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            535..667
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            668..762
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            763..892
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1095
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1225
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1323
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1456
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1511
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..1685
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1660..1665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /note="hexamer: AATAAA"
     polyA_site      1685
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /note="major polyA site"
ORIGIN      
        1 accactttta catggtcacc tacaggagag aggaggtgct gcaagactct ctggtagaaa
       61 aatgaagagg gtcctggtac tactgcttgc tgtggcattt ggacatgctt tagagagagg
      121 ccgggattat gaaaagaata aagtctgcaa ggaattctcc catctgggaa aggaggactt
      181 cacatctctg tcactagtcc tgtacagtag aaaatttccc agtggcacgt ttgaacaggt
      241 cagccaactt gtgaaggaag ttgtctcctt gaccgaagcc tgctgtgcgg aaggggctga
      301 ccctgactgc tatgacacca ggacctcagc actgtctgcc aagtcctgtg aaagtaattc
      361 tccattcccc gttcacccag gcactgctga gtgctgcacc aaagagggcc tggaacgaaa
      421 gctctgcatg gctgctctga aacaccagcc acaggaattc cctacctacg tggaacccac
      481 aaatgatgaa atctgtgagg cgttcaggaa agatccaaag gaatatgcta atcaatttat
      541 gtgggaatat tccactaatt acggacaagc tcctctgtca cttttagtca gttacaccaa
      601 gagttatctt tctatggtag ggtcctgctg tacctctgca agcccaactg tatgcttttt
      661 gaaagagaga ctccagctta aacatttatc acttctcacc actctgtcaa atagagtctg
      721 ctcacaatat gctgcttatg gggagaagaa atcaaggctc agcaatctca taaagttagc
      781 ccaaaaagtg cctactgctg atctggagga tgttttgcca ctagctgaag atattactaa
      841 catcctctcc aaatgctgtg agtctgcctc tgaagattgc atggccaaag agctgcctga
      901 acacacagta aaactctgtg acaatttatc cacaaagaat tctaagtttg aagactgttg
      961 tcaagaaaaa acagccatgg acgtttttgt gtgcacttac ttcatgccag ctgcccaact
     1021 ccccgagctt ccagatgtag agttgcccac aaacaaagat gtgtgtgatc caggaaacac
     1081 caaagtcatg gataagtata catttgaact aagcagaagg actcatcttc cggaagtatt
     1141 cctcagtaag gtacttgagc caaccctaaa aagccttggt gaatgctgtg atgttgaaga
     1201 ctcaactacc tgttttaatg ctaagggccc tctactaaag aaggaactat cttctttcat
     1261 tgacaaggga caagaactat gtgcagatta ttcagaaaat acatttactg agtacaagaa
     1321 aaaactggca gagcgactaa aagcaaaatt gcctgatgcc acacccacgg aactggcaaa
     1381 gctggttaac aagcactcag actttgcctc caactgctgt tccataaact cacctcctct
     1441 ttactgtgat tcagagattg atgctgaatt gaagaatatc ctgtagtcct gaagcatgtt
     1501 tattaacttt gaccagagtt ggagccaccc aggggaatga tctctgatga cctaacctaa
     1561 gcaaaaccac tgagcttctg ggaagacaac taggatactt tctacttttt ctagctacaa
     1621 tatcttcata caatgacaag tatgatgatt tgctatcaaa ataaattgaa atataatgca
     1681 aacca
//
