LOCUS       NM_000313               3372 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens protein S (PROS1), transcript variant 2, mRNA.
ACCESSION   NM_000313
VERSION     NM_000313.4
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 3372)
  AUTHORS   Perez,F., Iribarren,M.L., Olexen,C.M., Ruera,C.N., Errasti,A.E.,
            Guzman,L., Garbi,L., Carrera Silva,E.A. and Chirdo,F.G.
  TITLE     Duodenal mucosa of untreated celiac disease patients has altered
            expression of the GAS6 and PROS1 and the negative regulator
            tyrosine kinase TAM receptors subfamily
  JOURNAL   Clin Immunol 263, 110202 (2024)
   PUBMED   38575045
  REMARK    GeneRIF: Duodenal mucosa of untreated celiac disease patients has
            altered expression of the GAS6 and PROS1 and the negative regulator
            tyrosine kinase TAM receptors subfamily.
REFERENCE   2  (bases 1 to 3372)
  AUTHORS   Shi,H., Zhang,Z., Yuan,X., Liu,G., Fan,W. and Wang,W.
  TITLE     PROS1 is a crucial gene in the macrophage efferocytosis of diabetic
            foot ulcers: a concerted analytical approach through the prisms of
            computer analysis
  JOURNAL   Aging (Albany NY) 16 (8), 6883-6897 (2024)
   PUBMED   38613800
  REMARK    GeneRIF: PROS1 is a crucial gene in the macrophage efferocytosis of
            diabetic foot ulcers: a concerted analytical approach through the
            prisms of computer analysis.
REFERENCE   3  (bases 1 to 3372)
  AUTHORS   Reissig,J., Cunningham,S., Wandersee,A., Brox,R., Achenbach,S.,
            Strobel,J., Hackstein,H. and Schneider,S.
  TITLE     The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses
            Secretion
  JOURNAL   Clin Lab 70 (3) (2024)
   PUBMED   38469768
  REMARK    GeneRIF: The Protein S Erlangen Mutation PROS1c.1904T>C (F635S)
            Suppresses Secretion.
REFERENCE   4  (bases 1 to 3372)
  AUTHORS   Griffin,J.H., Gruber,A. and Fernandez,J.A.
  TITLE     Reevaluation of total, free, and bound protein S and C4b-binding
            protein levels in plasma anticoagulated with citrate or hirudin
  JOURNAL   Blood 79 (12), 3203-3211 (1992)
   PUBMED   1534488
REFERENCE   5  (bases 1 to 3372)
  AUTHORS   Maillard,C., Berruyer,M., Serre,C.M., Dechavanne,M. and Delmas,P.D.
  TITLE     Protein-S, a vitamin K-dependent protein, is a bone matrix
            component synthesized and secreted by osteoblasts
  JOURNAL   Endocrinology 130 (3), 1599-1604 (1992)
   PUBMED   1531628
REFERENCE   6  (bases 1 to 3372)
  AUTHORS   Edenbrandt,C.M., Lundwall,A., Wydro,R. and Stenflo,J.
  TITLE     Molecular analysis of the gene for vitamin K dependent protein S
            and its pseudogene. Cloning and partial gene organization
  JOURNAL   Biochemistry 29 (34), 7861-7868 (1990)
   PUBMED   2148112
REFERENCE   7  (bases 1 to 3372)
  AUTHORS   Ploos van Amstel,H.K., Reitsma,P.H., van der Logt,C.P. and
            Bertina,R.M.
  TITLE     Intron-exon organization of the active human protein S gene PS
            alpha and its pseudogene PS beta: duplication and silencing during
            primate evolution
  JOURNAL   Biochemistry 29 (34), 7853-7861 (1990)
   PUBMED   2148111
REFERENCE   8  (bases 1 to 3372)
  AUTHORS   Schmidel,D.K., Tatro,A.V., Phelps,L.G., Tomczak,J.A. and Long,G.L.
  TITLE     Organization of the human protein S genes
  JOURNAL   Biochemistry 29 (34), 7845-7852 (1990)
   PUBMED   2148110
REFERENCE   9  (bases 1 to 3372)
  AUTHORS   Lundwall,A., Dackowski,W., Cohen,E., Shaffer,M., Mahr,A.,
            Dahlback,B., Stenflo,J. and Wydro,R.
  TITLE     Isolation and sequence of the cDNA for human protein S, a regulator
            of blood coagulation
  JOURNAL   Proc Natl Acad Sci U S A 83 (18), 6716-6720 (1986)
   PUBMED   2944113
REFERENCE   10 (bases 1 to 3372)
  AUTHORS   Samuni,A., Chevion,M., Halpern,Y.S., Ilan,Y.A. and Czapski,G.
  TITLE     Radiation-induced damage in T4 bacteriophage: the effect of
            superoxide radicals and molecular oxygen
  JOURNAL   Radiat Res 75 (3), 489-496 (1978)
   PUBMED   214811
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015801.1, AC144562.5 and
            AI139337.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000313.3.
            
            Summary: This gene encodes a vitamin K-dependent plasma protein
            that functions as a cofactor for the anticoagulant protease,
            activated protein C (APC) to inhibit blood coagulation. It is found
            in plasma in both a free, functionally active form and also in an
            inactive form complexed with C4b-binding protein. Mutations in this
            gene result in autosomal dominant hereditary thrombophilia. An
            inactive pseudogene of this locus is located at an adjacent region
            on chromosome 3. Alternative splicing results in multiple
            transcript variants encoding different isoforms that may undergo
            similar processing to generate mature protein. [provided by RefSeq,
            Oct 2015].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            isoform (2) is shorter than 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.
            
            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 :: AK292994.1, Y00692.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394236.9/ ENSP00000377783.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2240              BC015801.1         171-2410
            2241-3284           AC144562.5         87129-88172         c
            3285-3372           AI139337.1         30-117              c
FEATURES             Location/Qualifiers
     source          1..3372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.1"
     gene            1..3372
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="protein S"
                     /db_xref="GeneID:5627"
                     /db_xref="HGNC:HGNC:9456"
                     /db_xref="MIM:176880"
     exon            1..223
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..2178
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; protein Sa; vitamin K-dependent plasma protein
                     S; protein S (alpha)"
                     /codon_start=1
                     /product="vitamin K-dependent protein S isoform 2
                     preproprotein"
                     /protein_id="NP_000304.2"
                     /db_xref="CCDS:CCDS2923.1"
                     /db_xref="GeneID:5627"
                     /db_xref="HGNC:HGNC:9456"
                     /db_xref="MIM:176880"
                     /translation="MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANS
                     LLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQ
                     STNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINE
                     CKDPSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCK
                     NIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLA
                     QDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDS
                     EGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELE
                     HSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCI
                     RSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHV
                     NVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALS
                     LCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPD
                     VPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS"
     exon            224..381
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            382..406
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            407..493
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            494..616
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            617..748
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            749..874
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            875..996
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1112
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1302
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1470
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1639
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1640..1791
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..2017
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..3372
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3290..3295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="hexamer: AATAAA"
     polyA_site      3314
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="major polyA site"
     regulatory      3349..3354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="hexamer: AATAAA"
     polyA_site      3372
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
ORIGIN      
        1 gttccgccga ggctcgctgg gtcgctggcg ccgccgcgca gcacggctca gaccgaggcg
       61 cacaggctcg cagctccgcg gcgcctagcg ctccggtccc cgccgcgacg cgccaccgtc
      121 cctgccggcg cctccgcgcg cttcgaaatg agggtcctgg gtgggcgctg cggggcgctg
      181 ctggcgtgtc tcctcctagt gcttcccgtc tcagaggcaa actttttgtc aaagcaacag
      241 gcttcacaag tcctggttag gaagcgtcgt gcaaattctt tacttgaaga aaccaaacag
      301 ggtaatcttg aaagagaatg catcgaagaa ctgtgcaata aagaagaagc cagggaggtc
      361 tttgaaaatg acccggaaac ggattatttt tatccaaaat acttagtttg tcttcgctct
      421 tttcaaactg ggttattcac tgctgcacgt cagtcaacta atgcttatcc tgacctaaga
      481 agctgtgtca atgccattcc agaccagtgt agtcctctgc catgcaatga agatggatat
      541 atgagctgca aagatggaaa agcttctttt acttgcactt gtaaaccagg ttggcaagga
      601 gaaaagtgtg aatttgacat aaatgaatgc aaagatccct caaatataaa tggaggttgc
      661 agtcaaattt gtgataatac acctggaagt taccactgtt cctgtaaaaa tggttttgtt
      721 atgctttcaa ataagaaaga ttgtaaagat gtggatgaat gctctttgaa gccaagcatt
      781 tgtggcacag ctgtgtgcaa gaacatccca ggagattttg aatgtgaatg ccccgaaggc
      841 tacagatata atctcaaatc aaagtcttgt gaagatatag atgaatgctc tgagaacatg
      901 tgtgctcagc tttgtgtcaa ttaccctgga ggttacactt gctattgtga tgggaagaaa
      961 ggattcaaac ttgcccaaga tcagaagagt tgtgaggttg tttcagtgtg ccttcccttg
     1021 aaccttgaca caaagtatga attactttac ttggcggagc agtttgcagg ggttgtttta
     1081 tatttaaaat ttcgtttgcc agaaatcagc agattttcag cagaatttga tttccggaca
     1141 tatgattcag aaggcgtgat actgtacgca gaatctatcg atcactcagc gtggctcctg
     1201 attgcacttc gtggtggaaa gattgaagtt cagcttaaga atgaacatac atccaaaatc
     1261 acaactggag gtgatgttat taataatggt ctatggaata tggtgtctgt ggaagaatta
     1321 gaacatagta ttagcattaa aatagctaaa gaagctgtga tggatataaa taaacctgga
     1381 ccccttttta agccggaaaa tggattgctg gaaaccaaag tatactttgc aggattccct
     1441 cggaaagtgg aaagtgaact cattaaaccg attaaccctc gtctagatgg atgtatacga
     1501 agctggaatt tgatgaagca aggagcttct ggaataaagg aaattattca agaaaaacaa
     1561 aataagcatt gcctggttac tgtggagaag ggctcctact atcctggttc tggaattgct
     1621 caatttcaca tagattataa taatgtatcc agtgctgagg gttggcatgt aaatgtgacc
     1681 ttgaatattc gtccatccac gggcactggt gttatgcttg ccttggtttc tggtaacaac
     1741 acagtgccct ttgctgtgtc cttggtggac tccacctctg aaaaatcaca ggatattctg
     1801 ttatctgttg aaaatactgt aatatatcgg atacaggccc taagtctatg ttccgatcaa
     1861 caatctcatc tggaatttag agtcaacaga aacaatctgg agttgtcgac accacttaaa
     1921 atagaaacca tctcccatga agaccttcaa agacaacttg ccgtcttgga caaagcaatg
     1981 aaagcaaaag tggccacata cctgggtggc cttccagatg ttccattcag tgccacacca
     2041 gtgaatgcct tttataatgg ctgcatggaa gtgaatatta atggtgtaca gttggatctg
     2101 gatgaagcca tttctaaaca taatgatatt agagctcact catgtccatc agtttggaaa
     2161 aagacaaaga attcttaagg catcttttct ctgcttataa taccttttcc ttgtgtgtaa
     2221 ttatacttat gtttcaataa cagctgaagg gttttattta caatgtgcag tctttgatta
     2281 ttttgtggtc ctttcctggg atttttaaaa ggtcctttgt caaggaaaaa aattctgttg
     2341 tgatataaat cacagtaaag aaattcttac ttctcttgct atctaagaat agtgaaaaat
     2401 aacaatttta aatttgaatt tttttcctac aaatgacagt ttcaattttt gtttgtaaaa
     2461 ctaaatttta attttatcat catgaactag tgtctaaata cctatgtttt tttcagaaag
     2521 caaggaagta aactcaaaca aaagtgcgtg taattaaata ctattaatca taggcagata
     2581 ctattttgtt tatgtttttg tttttttcct gatgaaggca gaagagatgg tggtctatta
     2641 aatatgaatt gaatggaggg tcctaatgcc ttatttcaaa acaattcctc agggggaaca
     2701 gctttggctt catctttctc ttgtgtggct tcacatttaa accagtatct ttattgaatt
     2761 agaaaacaag tgggacatat tttcctgaga gcagcacagg aatcttcttc ttggcagctg
     2821 cagtctgtca ggatgagata tcagattagg ttggataggt ggggaaatct gaagtgggta
     2881 cattttttaa attttgctgt gtgggtcaca caaggtctac attacaaaag acagaattca
     2941 gggatggaaa ggagaatgaa caaatgtggg agttcatagt tttccttgaa tccaactttt
     3001 aattaccaga gtaagttgcc aaaatgtgat tgttgaagta caaaaggaac tatgaaaacc
     3061 agaacaaatt ttaacaaaag gacaaccaca gagggatata gtgaatatcg tatcattgta
     3121 atcaaagaag taaggaggta agattgccac gtgcctgctg gtactgtgat gcatttcaag
     3181 tggcagtttt atcacgtttg aatctaccat tcatagccag atgtgtatca gatgtttcac
     3241 tgacagtttt taacaataaa ttcttttcac tgtattttat atcacttata ataaatcggt
     3301 gtataatttt aaaatgcatg tgaatatctt tattatatca actgtttgaa taaaacaaaa
     3361 ttacataata ga
//
