LOCUS       NM_002615               1438 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens serpin family F member 1 (SERPINF1), transcript
            variant 1, mRNA.
ACCESSION   NM_002615
VERSION     NM_002615.7
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 1438)
  AUTHORS   Tarabeih,R., Nemerovsky,L., Bar-Joseph,H., Eldar-Boock,A.,
            Elmechaly,C.L., Ben-Ami,I. and Shalgi,R.
  TITLE     Pigment epithelium-derived factor expression and role in follicular
            development
  JOURNAL   Reprod Biomed Online 49 (2), 103981 (2024)
   PUBMED   38870625
  REMARK    GeneRIF: Pigment epithelium-derived factor expression and role in
            follicular development.
REFERENCE   2  (bases 1 to 1438)
  AUTHORS   Li,R., Weng,X., Hu,X., Wang,J. and Zheng,L.
  TITLE     Pigment epithelium-derived factor inhibits proliferation, invasion
            and angiogenesis, and induces ferroptosis of extravillous
            trophoblasts by targeting Wnt-beta-catenin/VEGF signaling in
            placenta accreta spectrum
  JOURNAL   Mol Med Rep 29 (5) (2024)
   PUBMED   38488028
  REMARK    GeneRIF: Pigment epithelium-derived factor inhibits proliferation,
            invasion and angiogenesis, and induces ferroptosis of extravillous
            trophoblasts by targeting Wnt-beta-catenin/VEGF signaling in
            placenta accreta spectrum.
REFERENCE   3  (bases 1 to 1438)
  AUTHORS   Nampei,M., Suzuki,Y., Nakajima,H., Oinaka,H., Kawakita,F.,
            Suzuki,H. and pSEED,Group.
  TITLE     Acute-Phase Plasma Pigment Epithelium-Derived Factor Predicting
            Outcomes after Aneurysmal Subarachnoid Hemorrhage in the Elderly
  JOURNAL   Int J Mol Sci 25 (3), 1701 (2024)
   PUBMED   38338974
  REMARK    GeneRIF: Acute-Phase Plasma Pigment Epithelium-Derived Factor
            Predicting Outcomes after Aneurysmal Subarachnoid Hemorrhage in the
            Elderly.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1438)
  AUTHORS   Mohany,K.M., Elkady,S., Youssef,E.M.K., Sayed,N.M. and Idriss,N.K.
  TITLE     Pigment epithelium-derived factor (PEDF) represses the glucose
            transporter 1 (GLUT1) mRNA expression and may be a potential
            therapeutic agent in psoriasis: a case-control and experimental
            study
  JOURNAL   Sci Rep 13 (1), 21424 (2023)
   PUBMED   38052851
  REMARK    GeneRIF: Pigment epithelium-derived factor (PEDF) represses the
            glucose transporter 1 (GLUT1) mRNA expression and may be a
            potential therapeutic agent in psoriasis: a case-control and
            experimental study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1438)
  AUTHORS   Ziff,J.L., Crompton,M., Powell,H.R., Lavy,J.A., Aldren,C.P.,
            Steel,K.P., Saeed,S.R. and Dawson,S.J.
  TITLE     Mutations and altered expression of SERPINF1 in patients with
            familial otosclerosis
  JOURNAL   Hum Mol Genet 25 (12), 2393-2403 (2016)
   PUBMED   27056980
  REMARK    GeneRIF: Six rare heterozygous SERPINF1 variants were found in
            seven patients in our familial otosclerosis cohort; three are
            missense mutations predicted to be deleterious to protein function
REFERENCE   6  (bases 1 to 1438)
  AUTHORS   Shaheen,R., Alazami,A.M., Alshammari,M.J., Faqeih,E., Alhashmi,N.,
            Mousa,N., Alsinani,A., Ansari,S., Alzahrani,F., Al-Owain,M.,
            Alzayed,Z.S. and Alkuraya,F.S.
  TITLE     Study of autosomal recessive osteogenesis imperfecta in Arabia
            reveals a novel locus defined by TMEM38B mutation
  JOURNAL   J Med Genet 49 (10), 630-635 (2012)
   PUBMED   23054245
REFERENCE   7  (bases 1 to 1438)
  AUTHORS   Becerra,S.P., Sagasti,A., Spinella,P. and Notario,V.
  TITLE     Pigment epithelium-derived factor behaves like a noninhibitory
            serpin. Neurotrophic activity does not require the serpin reactive
            loop
  JOURNAL   J Biol Chem 270 (43), 25992-25999 (1995)
   PUBMED   7592790
REFERENCE   8  (bases 1 to 1438)
  AUTHORS   Tombran-Tink,J., Pawar,H., Swaroop,A., Rodriguez,I. and Chader,G.J.
  TITLE     Localization of the gene for pigment epithelium-derived factor
            (PEDF) to chromosome 17p13.1 and expression in cultured human
            retinoblastoma cells
  JOURNAL   Genomics 19 (2), 266-272 (1994)
   PUBMED   8188257
REFERENCE   9  (bases 1 to 1438)
  AUTHORS   Becerra,S.P., Palmer,I., Kumar,A., Steele,F., Shiloach,J.,
            Notario,V. and Chader,G.J.
  TITLE     Overexpression of fetal human pigment epithelium-derived factor in
            Escherichia coli. A functionally active neurotrophic factor
  JOURNAL   J Biol Chem 268 (31), 23148-23156 (1993)
   PUBMED   8226833
REFERENCE   10 (bases 1 to 1438)
  AUTHORS   Steele,F.R., Chader,G.J., Johnson,L.V. and Tombran-Tink,J.
  TITLE     Pigment epithelium-derived factor: neurotrophic activity and
            identification as a member of the serine protease inhibitor gene
            family
  JOURNAL   Proc Natl Acad Sci U S A 90 (4), 1526-1530 (1993)
   PUBMED   8434014
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA405781.1, AY513280.1 and
            BQ773314.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002615.6.
            
            Summary: This gene encodes a member of the serpin family that does
            not display the serine protease inhibitory activity shown by many
            of the other serpin proteins. The encoded protein is secreted and
            strongly inhibits angiogenesis. In addition, this protein is a
            neurotrophic factor involved in neuronal differentiation in
            retinoblastoma cells. Mutations in this gene were found in
            individuals with osteogenesis imperfecta, type VI. [provided by
            RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same protein (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 :: SRR5189655.220145.1, HM005693.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254722.9/ ENSP00000254722.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-402               CA405781.1         46-447
            403-1362            AY513280.1         390-1349
            1363-1438           BQ773314.1         27-102              c
FEATURES             Location/Qualifiers
     source          1..1438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..1438
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /note="serpin family F member 1"
                     /db_xref="GeneID:5176"
                     /db_xref="HGNC:HGNC:8824"
                     /db_xref="MIM:172860"
     exon            1..54
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     exon            55..146
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1319
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; pigment epithelium-derived factor; serine (or
                     cysteine) proteinase inhibitor, clade F (alpha-2
                     antiplasmin, pigment epithelium derived factor), member 1;
                     serpin peptidase inhibitor, clade F (alpha-2 antiplasmin,
                     pigment epithelium derived factor), member 1; testis
                     tissue sperm-binding protein Li 70n; cell
                     proliferation-inducing gene 35 protein"
                     /codon_start=1
                     /product="pigment epithelium-derived factor isoform 1
                     precursor"
                     /protein_id="NP_002606.3"
                     /db_xref="CCDS:CCDS11012.1"
                     /db_xref="GeneID:5176"
                     /db_xref="HGNC:HGNC:8824"
                     /db_xref="MIM:172860"
                     /translation="MQALVLLLCIGALLGHSSCQNPASPPEEGSPDPDSTGALVEEED
                     PFFKVPVNKLAAAVSNFGYDLYRVRSSTSPTTNVLLSPLSVATALSALSLGAEQRTES
                     IIHRALYYDLISSPDIHGTYKELLDTVTAPQKNLKSASRIVFEKKLRIKSSFVAPLEK
                     SYGTRPRVLTGNPRLDLQEINNWVQAQMKGKLARSTKEIPDEISILLLGVAHFKGQWV
                     TKFDSRKTSLEDFYLDEERTVRVPMMSDPKAVLRYGLDSDLSCKIAQLPLTGSMSIIF
                     FLPLKVTQNLTLIEESLTSEFIHDIDRELKTVQAVLTVPKLKLSYEGEVTKSLQEMKL
                     QSLFDSPDFSKITGKPIKLTQVEHRAGFEWNEDGAGTTPSPGLQPAHLTFPLDYHLNQ
                     PFIFVLRDTDTGALLFIGKILDPRGP"
     exon            147..345
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     exon            346..501
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     exon            502..705
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     exon            706..848
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1059
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     exon            1060..1438
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /note="hexamer: AATAAA"
     polyA_site      1438
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /note="major polyA site"
ORIGIN      
        1 agtgtgcagg cttagaggga ctaggctggg tgtggagctg cagcgtatcc acaggcccca
       61 ggatgcaggc cctggtgcta ctcctctgca ttggagccct cctcgggcac agcagctgcc
      121 agaaccctgc cagccccccg gaggagggct ccccagaccc cgacagcaca ggggcgctgg
      181 tggaggagga ggatcctttc ttcaaagtcc ccgtgaacaa gctggcagcg gctgtctcca
      241 acttcggcta tgacctgtac cgggtgcgat ccagcacgag ccccacgacc aacgtgctcc
      301 tgtctcctct cagtgtggcc acggccctct cggccctctc gctgggagcg gagcagcgaa
      361 cagaatccat cattcaccgg gctctctact atgacttgat cagcagccca gacatccatg
      421 gtacctataa ggagctcctt gacacggtca ctgcccccca gaagaacctc aagagtgcct
      481 cccggatcgt ctttgagaag aagctgcgca taaaatccag ctttgtggca cctctggaaa
      541 agtcatatgg gaccaggccc agagtcctga cgggcaaccc tcgcttggac ctgcaagaga
      601 tcaacaactg ggtgcaggcg cagatgaaag ggaagctcgc caggtccaca aaggaaattc
      661 ccgatgagat cagcattctc cttctcggtg tggcgcactt caaggggcag tgggtaacaa
      721 agtttgactc cagaaagact tccctcgagg atttctactt ggatgaagag aggaccgtga
      781 gggtccccat gatgtcggac cctaaggctg ttttacgcta tggcttggat tcagatctca
      841 gctgcaagat tgcccagctg cccttgaccg gaagcatgag tatcatcttc ttcctgcccc
      901 tgaaagtgac ccagaatttg accttgatag aggagagcct cacctccgag ttcattcatg
      961 acatagaccg agaactgaag accgtgcagg cggtcctcac tgtccccaag ctgaagctga
     1021 gttatgaagg cgaagtcacc aagtccctgc aggagatgaa gctgcaatcc ttgtttgatt
     1081 caccagactt tagcaagatc acaggcaaac ccatcaagct gactcaggtg gaacaccggg
     1141 ctggctttga gtggaacgag gatggggcgg gaaccacccc cagcccaggg ctgcagcctg
     1201 cccacctcac cttcccgctg gactatcacc ttaaccagcc tttcatcttc gtactgaggg
     1261 acacagacac aggggccctt ctcttcattg gcaagattct ggaccccagg ggcccctaat
     1321 atcccagttt aatattccaa taccctagaa gaaaacccga gggacagcag attccacagg
     1381 acacgaaggc tgcccctgta aggtttcaat gcatacaata aaagagcttt atccctaa
//
