LOCUS       NM_001374504            3265 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens transmembrane serine protease 6 (TMPRSS6), transcript
            variant 4, mRNA.
ACCESSION   NM_001374504 XM_024452170
VERSION     NM_001374504.1
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 3265)
  AUTHORS   Sharma,A., Kumar,A., Rawat,K., Vij,S., Sandhu,A., Gautam,V.,
            Saha,P.K. and Saha,L.
  TITLE     Novel TMPRSS6 variants and their impact on iron-refractory iron
            deficiency anaemia in pregnancy: A North Indian genotype phenotype
            study
  JOURNAL   Br J Haematol 205 (2), 686-698 (2024)
   PUBMED   38977031
  REMARK    GeneRIF: Novel TMPRSS6 variants and their impact on iron-refractory
            iron deficiency anaemia in pregnancy: A North Indian genotype
            phenotype study.
REFERENCE   2  (bases 1 to 3265)
  AUTHORS   Sharma,A., Kumar,A., Saha,P.K. and Saha,L.
  TITLE     The role of TMPRSS6 gene polymorphism in iron resistance iron
            deficiency anaemia (IRIDA): a systematic review
  JOURNAL   Ann Hematol 103 (4), 1085-1102 (2024)
   PUBMED   38072851
  REMARK    GeneRIF: The role of TMPRSS6 gene polymorphism in iron resistance
            iron deficiency anaemia (IRIDA): a systematic review.
            Review article
REFERENCE   3  (bases 1 to 3265)
  AUTHORS   Pettinato,M., Aghajan,M., Guo,S., Bavuso Volpe,L., Carleo,R.,
            Nai,A., Pagani,A., Altamura,S. and Silvestri,L.
  TITLE     A functional interplay between the two BMP-SMAD pathway inhibitors
            TMPRSS6 and FKBP12 regulates hepcidin expression in vivo
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 326 (3), G310-G317 (2024)
   PUBMED   38252872
  REMARK    GeneRIF: A functional interplay between the two BMP-SMAD pathway
            inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in
            vivo.
REFERENCE   4  (bases 1 to 3265)
  AUTHORS   Hamed,H.M., Bostany,E.E., Motawie,A.A., Abd Al-Aziz,A.M.,
            Mourad,A.A., Salama,H.M., Kamel,S., Hassan,E.M., Helmy,N.A.,
            El-Saeed,G.S. and Elghoroury,E.A.
  TITLE     The association of TMPRSS6 gene polymorphism with iron status in
            Egyptian children (a pilot study)
  JOURNAL   BMC Pediatr 24 (1), 105 (2024)
   PUBMED   38341535
  REMARK    GeneRIF: The association of TMPRSS6 gene polymorphism with iron
            status in Egyptian children (a pilot study).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3265)
  AUTHORS   Hubacek,J.A., Philipp,T., Adamkova,V., Majek,O., Dlouha,D. and
            Dusek,L.
  TITLE     Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335
            polymorphisms on COVID-19 severity in the Czech population
  JOURNAL   Cent Eur J Public Health 31 (4), 235-239 (2023)
   PUBMED   38309700
  REMARK    GeneRIF: Possible effect of OAS1 and TMPRSS6 but not DPP4 and
            ZNF335 polymorphisms on COVID-19 severity in the Czech population.
REFERENCE   6  (bases 1 to 3265)
  AUTHORS   Hartikainen,J.M., Tuhkanen,H., Kataja,V., Eskelinen,M.,
            Uusitupa,M., Kosma,V.M. and Mannermaa,A.
  TITLE     Refinement of the 22q12-q13 breast cancer--associated region:
            evidence of TMPRSS6 as a candidate gene in an eastern Finnish
            population
  JOURNAL   Clin Cancer Res 12 (5), 1454-1462 (2006)
   PUBMED   16533768
  REMARK    GeneRIF: Single Nucleotide Polymorphisms in TMPRSS6 is associated
            with breast cancer
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3265)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (bases 1 to 3265)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 3265)
  AUTHORS   Netzel-Arnett,S., Hooper,J.D., Szabo,R., Madison,E.L.,
            Quigley,J.P., Bugge,T.H. and Antalis,T.M.
  TITLE     Membrane anchored serine proteases: a rapidly expanding group of
            cell surface proteolytic enzymes with potential roles in cancer
  JOURNAL   Cancer Metastasis Rev 22 (2-3), 237-258 (2003)
   PUBMED   12784999
  REMARK    Review article
REFERENCE   10 (bases 1 to 3265)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022314.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 2, 2019 this sequence version replaced XM_024452170.1.
            
            Summary: The protein encoded by this gene is a type II
            transmembrane serine proteinase that is found attached to the cell
            surface. The encoded protein may be involved in matrix remodeling
            processes in the liver. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038193.3113079.1,
                                           SRR14038197.1598521.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000676104.1/ ENSP00000501573.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AL022314.1         62183-62393         c
            212-414             AL022314.1         55896-56098         c
            415-548             AL022314.1         51096-51229         c
            549-616             AL022314.1         49328-49395         c
            617-801             AL022314.1         48586-48770         c
            802-843             AL022314.1         48231-48272         c
            844-1048            AL022314.1         42258-42462         c
            1049-1185           AL022314.1         38963-39099         c
            1186-1298           AL022314.1         37407-37519         c
            1299-1408           AL022314.1         36975-37084         c
            1409-1554           AL022314.1         27815-27960         c
            1555-1653           AL022314.1         27290-27388         c
            1654-1767           AL022314.1         26212-26325         c
            1768-1884           AL022314.1         23596-23712         c
            1885-2053           AL022314.1         23164-23332         c
            2054-2325           AL022314.1         21753-22024         c
            2326-2462           AL022314.1         19506-19642         c
            2463-3265           AL022314.1         18116-18918         c
FEATURES             Location/Qualifiers
     source          1..3265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..3265
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /note="transmembrane serine protease 6"
                     /db_xref="GeneID:164656"
                     /db_xref="HGNC:HGNC:16517"
                     /db_xref="MIM:609862"
     exon            1..211
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            212..414
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..2621
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /note="isoform 3 is encoded by transcript variant 4; type
                     II transmembrane serine protease 6; membrane-bound mosaic
                     serine proteinase matriptase-2; transmembrane protease,
                     serine 6"
                     /codon_start=1
                     /product="transmembrane protease serine 6 isoform 3"
                     /protein_id="NP_001361433.1"
                     /db_xref="CCDS:CCDS74856.1"
                     /db_xref="GeneID:164656"
                     /db_xref="HGNC:HGNC:16517"
                     /db_xref="MIM:609862"
                     /translation="MPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRL
                     VPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAF
                     RSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPE
                     VVQALLVEELLSTVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYV
                     GQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRL
                     ITSVYGCSRQEPVVEVLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDN
                     RLDSQGVLSTPYFPSYYSPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQ
                     WTIQNRRLCGLRILQPYAERIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCP
                     GEFLCSVNGLCVPACDGVKDCPNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCL
                     NGSDEEQCQEGVPCGTFTFQCEDRSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSS
                     RIVGGAVSSEGEWPWQASLQVRGRHICGGALIADRWVITAAHCFQEDSMASTVLWTVF
                     LGKVWQNSRWPGEVSFKVSRLLLHPYHEEDSHDYDVALLQLDHPVVRSAAVRPVCLPA
                     RSHFFEPGLHCWITGWGALREGGPISNALQKVDVQLIPQDLCSEVYRYQVTPRMLCAG
                     YRKGKKDACQGDSGGPLVCKALSGRWFLAGLVSWGLGCGRPNYFGVYTRITGVISWIQ
                     QVVT"
     exon            415..548
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            549..616
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            617..801
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            802..843
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            844..1048
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1185
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1298
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1408
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1554
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1653
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1654..1767
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..1884
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1885..2053
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2054..2325
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2326..2462
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2463..3265
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3246..3251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /note="hexamer: AATAAA"
     polyA_site      3265
                     /gene="TMPRSS6"
                     /gene_synonym="IRIDA; MT2"
                     /note="major polyA site"
ORIGIN      
        1 agtcacagtg ctgtccagga cccagcagga ggagttccat ggagcctgag gccacaggcc
       61 acaggggaca agggccagac accctggtca tggctctagg ccattgatcc agcctgggct
      121 ggctgggtgg gggtggggag gccttggcct ggacaaacag aggctcctga ggcctgtgtg
      181 caggcccggc acctatctgc cgctcccaaa ggatgcccgt ggccgaggcc ccccaggtgg
      241 ctggcgggca gggggacgga ggtgatggcg aggaagcgga gccggagggg atgttcaagg
      301 cctgtgagga ctccaagaga aaagcccggg gctacctccg cctggtgccc ctgtttgtgc
      361 tgctggccct gctcgtgctg gcttcggcgg gggtgctact ctggtatttc ctagggtaca
      421 aggcggaggt gatggtcagc caggtgtact caggcagtct gcgtgtactc aatcgccact
      481 tctcccagga tcttacccgc cgggaatcta gtgccttccg cagtgaaacc gccaaagccc
      541 agaagatgct caaggagctc atcaccagca cccgcctggg aacttactac aactccagct
      601 ccgtctattc ctttggggag ggacccctca cctgcttctt ctggttcatt ctccaaatcc
      661 ccgagcaccg ccggctgatg ctgagccccg aggtggtgca ggcactgctg gtggaggagc
      721 tgctgtccac agtcaacagc tcggctgccg tcccctacag ggccgagtac gaagtggacc
      781 ccgagggcct agtgatcctg gaagccagtg tgaaagacat agctgcattg aattccacgc
      841 tgggttgtta ccgctacagc tacgtgggcc agggccaggt cctccggctg aaggggcctg
      901 accacctggc ctccagctgc ctgtggcacc tgcagggccc caaggacctc atgctcaaac
      961 tccggctgga gtggacgctg gcagagtgcc gggaccgact ggccatgtat gacgtggccg
     1021 ggcccctgga gaagaggctc atcacctcgg tgtacggctg cagccgccag gagcccgtgg
     1081 tggaggttct ggcgtcgggg gccatcatgg cggtcgtctg gaagaagggc ctgcacagct
     1141 actacgaccc cttcgtgctc tccgtgcagc cggtggtctt ccaggcctgt gaagtgaacc
     1201 tgacgctgga caacaggctc gactcccagg gcgtcctcag caccccgtac ttccccagct
     1261 actactcgcc ccaaacccac tgctcctggc acctcacggt gccctctctg gactacggct
     1321 tggccctctg gtttgatgcc tatgcactga ggaggcagaa gtatgatttg ccgtgcaccc
     1381 agggccagtg gacgatccag aacaggaggc tgtgtggctt gcgcatcctg cagccctacg
     1441 ccgagaggat ccccgtggtg gccacggccg ggatcaccat caacttcacc tcccagatct
     1501 ccctcaccgg gcccggtgtg cgggtgcact atggcttgta caaccagtcg gacccctgcc
     1561 ctggagagtt cctctgttct gtgaatggac tctgtgtccc tgcctgtgat ggggtcaagg
     1621 actgccccaa cggcctggat gagagaaact gcgtttgcag agccacattc cagtgcaaag
     1681 aggacagcac atgcatctca ctgcccaagg tctgtgatgg gcagcctgat tgtctcaacg
     1741 gcagcgacga agagcagtgc caggaagggg tgccatgtgg gacattcacc ttccagtgtg
     1801 aggaccggag ctgcgtgaag aagcccaacc cgcagtgtga tgggcggccc gactgcaggg
     1861 acggctcgga tgaggagcac tgtgactgtg gcctccaggg cccctccagc cgcattgttg
     1921 gtggagctgt gtcctccgag ggtgagtggc catggcaggc cagcctccag gttcggggtc
     1981 gacacatctg tgggggggcc ctcatcgctg accgctgggt gataacagct gcccactgct
     2041 tccaggagga cagcatggcc tccacggtgc tgtggaccgt gttcctgggc aaggtgtggc
     2101 agaactcgcg ctggcctgga gaggtgtcct tcaaggtgag ccgcctgctc ctgcacccgt
     2161 accacgaaga ggacagccat gactacgacg tggcgctgct gcagctcgac cacccggtgg
     2221 tgcgctcggc cgccgtgcgc cccgtctgcc tgcccgcgcg ctcccacttc ttcgagcccg
     2281 gcctgcactg ctggattacg ggctggggcg ccttgcgcga gggcggcccc atcagcaacg
     2341 ctctgcagaa agtggatgtg cagttgatcc cacaggacct gtgcagcgag gtctatcgct
     2401 accaggtgac gccacgcatg ctgtgtgccg gctaccgcaa gggcaagaag gatgcctgtc
     2461 agggtgactc aggtggtccg ctggtgtgca aggcactcag tggccgctgg ttcctggcgg
     2521 ggctggtcag ctggggcctg ggctgtggcc ggcctaacta cttcggcgtc tacacccgca
     2581 tcacaggtgt gatcagctgg atccagcaag tggtgacctg aggaactgcc cccctgcaaa
     2641 gcagggccca cctcctggac tcagagagcc cagggcaact gccaagcagg gggacaagta
     2701 ttctggcggg gggtggggga gagagcaggc cctgtggtgg caggaggtgg catcttgtct
     2761 cgtccctgat gtctgctcca gtgatggcag gaggatggag aagtgccagc agctgggggt
     2821 caagacgtcc cctgaggacc caggcccaca cccagccctt ctgcctccca attctctctc
     2881 ctccgtcccc ttcctccact gctgcctaat gcaaggcagt ggctcagcag caagaatgct
     2941 ggttctacat cccgaggagt gtctgaggtg cgccccactc tgtacagagg ctgtttgggc
     3001 agccttgcct ccagagagca gattccagct tcggaagccc ctggtctaac ttgggatctg
     3061 ggaatggaag gtgctcccat cggaggggac cctcagagcc ctggagactg ccaggtgggc
     3121 ctgctgccac tgtaagccaa aaggtgggga agtcctgact ccagggtcct tgccccaccc
     3181 ctgcctgcca cctgggccct cacagcccag accctcactg ggaggtgagc tcagctgccc
     3241 tttggaataa agctgcctga tccaa
//
