LOCUS       NM_019616               3063 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens coagulation factor VII (F7), transcript variant 2,
            mRNA.
ACCESSION   NM_019616
VERSION     NM_019616.4
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 3063)
  AUTHORS   Cheng,X.L., Yang,T., Yang,L., Xin,Y.J., He,M., Zhu,L. and Liu,J.Y.
  TITLE     [Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency
            Caused by Compound Heterozygous Mutation p.Gly175Cys and
            p.Gly542Ser of F12 Gene]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 32 (3), 862-867 (2024)
   PUBMED   38926981
  REMARK    GeneRIF: [Pedigree Analysis of Hereditary Coagulation Factor XII
            Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and
            p.Gly542Ser of F12 Gene].
REFERENCE   2  (bases 1 to 3063)
  AUTHORS   Wang,Y.Y., Zhang,Y.G. and Chen,W.B.
  TITLE     [Congenital F Deficiency Associated with a Novel Mutation in F7
            Gene]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 32 (3), 857-861 (2024)
   PUBMED   38926980
  REMARK    GeneRIF: [Congenital F Deficiency Associated with a Novel Mutation
            in F7 Gene].
REFERENCE   3  (bases 1 to 3063)
  AUTHORS   Zhou,P., Peng,Y., Li,Q., Huang,Q. and Kong,Y.
  TITLE     Frequency of the p.Thr241Asn mutation in Chinese patients with
            congenital factor VII deficiency
  JOURNAL   Thromb Res 235, 122-124 (2024)
   PUBMED   38335567
  REMARK    GeneRIF: Frequency of the p.Thr241Asn mutation in Chinese patients
            with congenital factor VII deficiency.
REFERENCE   4  (bases 1 to 3063)
  AUTHORS   Cakar,S., Eren,G., Karapinar,T.H., Ecevit,C.O. and Bekem,O.
  TITLE     Acquired factor VII deficiency in pediatric inflammatory bowel
            disease: Report of three cases
  JOURNAL   Arab J Gastroenterol 24 (4), 256-258 (2023)
   PUBMED   37993374
  REMARK    GeneRIF: Acquired factor VII deficiency in pediatric inflammatory
            bowel disease: Report of three cases.
REFERENCE   5  (bases 1 to 3063)
  AUTHORS   Pollak,E.S., Hung,H.L., Godin,W., Overton,G.C. and High,K.A.
  TITLE     Functional characterization of the human factor VII 5'-flanking
            region
  JOURNAL   J Biol Chem 271 (3), 1738-1747 (1996)
   PUBMED   8576177
REFERENCE   6  (bases 1 to 3063)
  AUTHORS   Marchetti,G., Patracchini,P., Gemmati,D., DeRosa,V., Pinotti,M.,
            Rodorigo,G., Casonato,A., Girolami,A. and Bernardi,F.
  TITLE     Detection of two missense mutations and characterization of a
            repeat polymorphism in the factor VII gene (F7)
  JOURNAL   Hum Genet 89 (5), 497-502 (1992)
   PUBMED   1634227
REFERENCE   7  (bases 1 to 3063)
  AUTHORS   O'Brien,D.P., Gale,K.M., Anderson,J.S., McVey,J.H., Miller,G.J.,
            Meade,T.W. and Tuddenham,E.G.
  TITLE     Purification and characterization of factor VII 304-Gln: a variant
            molecule with reduced activity isolated from a clinically
            unaffected male
  JOURNAL   Blood 78 (1), 132-140 (1991)
   PUBMED   2070047
REFERENCE   8  (bases 1 to 3063)
  AUTHORS   Bjoern,S., Foster,D.C., Thim,L., Wiberg,F.C., Christensen,M.,
            Komiyama,Y., Pedersen,A.H. and Kisiel,W.
  TITLE     Human plasma and recombinant factor VII. Characterization of
            O-glycosylations at serine residues 52 and 60 and effects of
            site-directed mutagenesis of serine 52 to alanine
  JOURNAL   J Biol Chem 266 (17), 11051-11057 (1991)
   PUBMED   1904059
REFERENCE   9  (bases 1 to 3063)
  AUTHORS   Iwanaga,S., Nishimura,H., Kawabata,S., Kisiel,W., Hase,S. and
            Ikenaka,T.
  TITLE     A new trisaccharide sugar chain linked to a serine residue in the
            first EGF-like domain of clotting factors VII and IX and protein Z
  JOURNAL   Adv Exp Med Biol 281, 121-131 (1990)
   PUBMED   2129367
REFERENCE   10 (bases 1 to 3063)
  AUTHORS   Thim,L., Bjoern,S., Christensen,M., Nicolaisen,E.M.,
            Lund-Hansen,T., Pedersen,A.H. and Hedner,U.
  TITLE     Amino acid sequence and posttranslational modifications of human
            factor VIIa from plasma and transfected baby hamster kidney cells
  JOURNAL   Biochemistry 27 (20), 7785-7793 (1988)
   PUBMED   3264725
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310779.1, BC130468.1,
            AL137002.19 and AI076552.1.
            
            On Nov 30, 2019 this sequence version replaced NM_019616.3.
            
            Summary: This gene encodes coagulation factor VII which is a
            vitamin K-dependent factor essential for hemostasis. This factor
            circulates in the blood in a zymogen form, and is converted to an
            active form by either factor IXa, factor Xa, factor XIIa, or
            thrombin by minor proteolysis. Upon activation of the factor VII, a
            heavy chain containing a catalytic domain and a light chain
            containing 2 EGF-like domains are generated, and two chains are
            held together by a disulfide bond. In the presence of factor III
            and calcium ions, the activated factor then further activates the
            coagulation cascade by converting factor IX to factor IXa and/or
            factor X to factor Xa. Defects in this gene can cause coagulopathy.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms that may undergo similar proteolytic
            processing to generate mature polypeptides. [provided by RefSeq,
            Aug 2015].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (b) is shorter than isoform a. This isoform (b) may
            undergo proteolytic processing similar to isoform a.
            
            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. A downstream
            translational start codon is selected for this RefSeq based on its
            better conservation in mammalian species. An upstream in-frame
            start codon is also present and would result in a protein that is
            15 aa longer at the N-terminus, but this start codon is poorly
            conserved and located within a protein-binding site identified in
            the promoter region, as described in PubMed: 8576177. Leaky
            scanning by ribosomes may allow translation initiation at the
            downstream start codon.
            
            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 :: SRR14038191.3559616.1, BC130468.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:8576177)
            MANE Ensembl match               :: ENST00000346342.8/
                                                ENSP00000329546.4
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AK310779.1         4-10
            8-1895              BC130468.1         1-1888
            1896-2646           AL137002.19        44161-44911
            2647-3059           AI076552.1         17-429              c
            3060-3063           AL137002.19        45325-45328
FEATURES             Location/Qualifiers
     source          1..3063
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..3063
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /note="coagulation factor VII"
                     /db_xref="GeneID:2155"
                     /db_xref="HGNC:HGNC:3544"
                     /db_xref="MIM:613878"
     exon            1..115
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1386
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /EC_number="3.4.21.21"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; eptacog alfa; FVII coagulation protein;
                     coagulation factor VII (serum prothrombin conversion
                     accelerator); proconvertin"
                     /codon_start=1
                     /product="coagulation factor VII isoform b precursor"
                     /protein_id="NP_062562.1"
                     /db_xref="CCDS:CCDS9529.1"
                     /db_xref="GeneID:2155"
                     /db_xref="HGNC:HGNC:3544"
                     /db_xref="MIM:613878"
                     /translation="MVSQALRLLCLLLGLQGCLAAVFVTQEEAHGVLHRRRRANAFLE
                     ELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQ
                     LQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLA
                     DGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGG
                     TLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGT
                     TNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALE
                     LMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRG
                     TWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP"
     exon            116..276
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     exon            277..301
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     exon            302..415
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     exon            416..556
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     exon            557..666
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     exon            667..790
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     exon            791..3063
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2364..2369
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /note="hexamer: AATAAA"
     polyA_site      2410
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /note="major polyA site"
     regulatory      3038..3043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F7"
                     /gene_synonym="SPCA"
                     /note="hexamer: AATAAA"
     polyA_site      3063
                     /gene="F7"
                     /gene_synonym="SPCA"
ORIGIN      
        1 agtcccatgg ggaatgtcaa caggcagggg cagcactgca gagatttcat catggtctcc
       61 caggccctca ggctcctctg ccttctgctt gggcttcagg gctgcctggc tgcagtcttc
      121 gtaacccagg aggaagccca cggcgtcctg caccggcgcc ggcgcgccaa cgcgttcctg
      181 gaggagctgc ggccgggctc cctggagagg gagtgcaagg aggagcagtg ctccttcgag
      241 gaggcccggg agatcttcaa ggacgcggag aggacgaagc tgttctggat ttcttacagt
      301 gatggggacc agtgtgcctc aagtccatgc cagaatgggg gctcctgcaa ggaccagctc
      361 cagtcctata tctgcttctg cctccctgcc ttcgagggcc ggaactgtga gacgcacaag
      421 gatgaccagc tgatctgtgt gaacgagaac ggcggctgtg agcagtactg cagtgaccac
      481 acgggcacca agcgctcctg tcggtgccac gaggggtact ctctgctggc agacggggtg
      541 tcctgcacac ccacagttga atatccatgt ggaaaaatac ctattctaga aaaaagaaat
      601 gccagcaaac cccaaggccg aattgtgggg ggcaaggtgt gccccaaagg ggagtgtcca
      661 tggcaggtcc tgttgttggt gaatggagct cagttgtgtg gggggaccct gatcaacacc
      721 atctgggtgg tctccgcggc ccactgtttc gacaaaatca agaactggag gaacctgatc
      781 gcggtgctgg gcgagcacga cctcagcgag cacgacgggg atgagcagag ccggcgggtg
      841 gcgcaggtca tcatccccag cacgtacgtc ccgggcacca ccaaccacga catcgcgctg
      901 ctccgcctgc accagcccgt ggtcctcact gaccatgtgg tgcccctctg cctgcccgaa
      961 cggacgttct ctgagaggac gctggccttc gtgcgcttct cattggtcag cggctggggc
     1021 cagctgctgg accgtggcgc cacggccctg gagctcatgg tcctcaacgt gccccggctg
     1081 atgacccagg actgcctgca gcagtcacgg aaggtgggag actccccaaa tatcacggag
     1141 tacatgttct gtgccggcta ctcggatggc agcaaggact cctgcaaggg ggacagtgga
     1201 ggcccacatg ccacccacta ccggggcacg tggtacctga cgggcatcgt cagctggggc
     1261 cagggctgcg caaccgtggg ccactttggg gtgtacacca gggtctccca gtacatcgag
     1321 tggctgcaaa agctcatgcg ctcagagcca cgcccaggag tcctcctgcg agccccattt
     1381 ccctagccca gcagccctgg cctgtggaga gaaagccaag gctgcgtcga actgtcctgg
     1441 caccaaatcc catatattct tctgcagtta atggggtaga ggagggcatg ggagggaggg
     1501 agaggtgggg agggagacag agacagaaac agagagagac agagacagag agagactgag
     1561 ggagagactc tgaggacatg gagagagact caaagagact ccaagattca aagagactaa
     1621 tagagacaca gagatggaat agaaaagatg agaggcagag gcagacaggc gctggacaga
     1681 ggggcagggg agtgccaagg ttgtcctgga ggcagacagc ccagctgagc ctccttacct
     1741 cccttcagcc aagcccacct gcacgtgatc tgctggcctc aggctgctgc tctgccttca
     1801 ttgctggaga cagtagaggc atgaacacac atggatgcac acacacacac gccaatgcac
     1861 acacacagag atatgcacac acacggatgc acacacagat ggtcacacag agatacgcaa
     1921 acacaccgat gcacacgcac atagagatat gcacacacag atgcacacac agatatacac
     1981 atggatgcac gcacatgcca atgcacgcac acatcagtgc acacggatgc acagagatat
     2041 gcacacaccg atgtgcgcac acacagatat gcacacacat ggatgagcac acacacacca
     2101 atgcgcacac acaccgatgt acacacacag atgcacacac agatgcacac acaccgatgc
     2161 tgactccatg tgtgctgtcc tctgaaggcg gttgtttagc tctcactttt ctggttctta
     2221 tccattatca tcttcacttc agacaattca gaagcatcac catgcatggt ggcgaatgcc
     2281 cccaaactct cccccaaatg tatttctccc ttcgctgggt gccgggctgc acagactatt
     2341 ccccacctgc ttcccagctt cacaataaac ggctgcgtct cctccgcaca cctgtggtgc
     2401 ctgccaccca ctgggttgcc catgattcat ttttggagcc cccggtgctc atcctctgag
     2461 atgctctttt ctttcacaat tttcaacatc actgaaatga accctcacat ggaagctatt
     2521 ttttaaaaac aaaagctgtt tgatagatgt ttgaggctgt agctcccagg atcctgtgga
     2581 attggatgtt ctctccctgc cacagccctt gtcaatgata tttcacagag accctgggag
     2641 cacctgctca agagtcaggg acacacgcat cactaaatgc aagttcccag gccctggctg
     2701 cagtgggagg acctggcaag ctgcactctt gctgagtccc cagggtggtg gaagaagaat
     2761 gagaaacaca tgaacagaga aatggggagg tgacaaacag tgcccccact cagactccgg
     2821 caagcacggc tcagagagtg gactcgatgc catccctgca gggccgtcct gggcaccact
     2881 ggcactcaca gcagcaaggt gggcaccatt ggcactcaca gcagcaaggc aggcaccagc
     2941 aacccacctc gggggcactc aggcatcatc tacttcagag cagacagggt ctatgaacta
     3001 cagccgtggg ctgcttccaa ggcaccctgc tcttgtaaat aaagttttat gggaacacac
     3061 cca
//
