LOCUS       NM_005424               3893 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens tyrosine kinase with immunoglobulin like and EGF like
            domains 1 (TIE1), transcript variant 1, mRNA.
ACCESSION   NM_005424
VERSION     NM_005424.5
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 3893)
  AUTHORS   Brouillard,P., Murtomaki,A., Leppanen,V.M., Hyytiainen,M.,
            Mestre,S., Potier,L., Boon,L.M., Revencu,N., Greene,A.,
            Anisimov,A., Salo,M.H., Hinttala,R., Eklund,L., Quere,I.,
            Alitalo,K. and Vikkula,M.
  TITLE     Loss-of-function mutations of the TIE1 receptor tyrosine kinase
            cause late-onset primary lymphedema
  JOURNAL   J Clin Invest 134 (14), e173586 (2024)
   PUBMED   38820174
  REMARK    GeneRIF: Loss-of-function mutations of the TIE1 receptor tyrosine
            kinase cause late-onset primary lymphedema.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3893)
  AUTHORS   Liu,P., Xie,L., Wu,Q., Huang,L., Liu,X., Li,W., Cai,J., Wang,Z.,
            Yang,P. and Cai,L.
  TITLE     TIE1 promotes cervical cancer progression via Basigin-matrix
            metalloproteinase axis
  JOURNAL   Int J Biol Sci 20 (6), 2297-2309 (2024)
   PUBMED   38617545
  REMARK    GeneRIF: TIE1 promotes cervical cancer progression via
            Basigin-matrix metalloproteinase axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3893)
  AUTHORS   Zagkos,L., Dib,M.J., Cronje,H.T., Elliott,P., Dehghan,A.,
            Tzoulaki,I., Gill,D. and Daghlas,I.
  TITLE     Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect
            Cognitive Performance: Evidence from Proteome-Wide Mendelian
            Randomization
  JOURNAL   Genes (Basel) 15 (1), 71 (2024)
   PUBMED   38254961
  REMARK    GeneRIF: Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels
            Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian
            Randomization.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3893)
  AUTHORS   Abu Shtaya,A., Sukenik-Halevy,R., Bazak,L., Lidzbarsky,G.A.,
            Gonzaga-Jauregui,C., Lagovsky,I., Goldberg,Y. and Basel-Salmon,L.
  TITLE     Possible biallelic inheritance in TIE1 in a family with congenital
            lymphedema, intestinal lymphangiectasia and cutis aplasia
  JOURNAL   Clin Genet 104 (2), 275-276 (2023)
   PUBMED   37096293
  REMARK    GeneRIF: Possible biallelic inheritance in TIE1 in a family with
            congenital lymphedema, intestinal lymphangiectasia and cutis
            aplasia.
REFERENCE   5  (bases 1 to 3893)
  AUTHORS   Chen,E., Huang,J., Chen,M., Wu,J., Ouyang,P., Wang,X., Shi,D.,
            Liu,Z., Zhu,W., Sun,H., Yang,S., Zhang,B., Deng,W., Qiu,H. and
            Xie,F.
  TITLE     FLI1 regulates radiotherapy resistance in nasopharyngeal carcinoma
            through TIE1-mediated PI3K/AKT signaling pathway
  JOURNAL   J Transl Med 21 (1), 134 (2023)
   PUBMED   36814284
  REMARK    GeneRIF: FLI1 regulates radiotherapy resistance in nasopharyngeal
            carcinoma through TIE1-mediated PI3K/AKT signaling pathway.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3893)
  AUTHORS   Lin,W.C., Li,A.F., Chi,C.W., Chung,W.W., Huang,C.L., Lui,W.Y.,
            Kung,H.J. and Wu,C.W.
  TITLE     tie-1 protein tyrosine kinase: a novel independent prognostic
            marker for gastric cancer
  JOURNAL   Clin Cancer Res 5 (7), 1745-1751 (1999)
   PUBMED   10430078
REFERENCE   7  (bases 1 to 3893)
  AUTHORS   Hashiyama,M., Iwama,A., Ohshiro,K., Kurozumi,K., Yasunaga,K.,
            Shimizu,Y., Masuho,Y., Matsuda,I., Yamaguchi,N. and Suda,T.
  TITLE     Predominant expression of a receptor tyrosine kinase, TIE, in
            hematopoietic stem cells and B cells
  JOURNAL   Blood 87 (1), 93-101 (1996)
   PUBMED   8547681
REFERENCE   8  (bases 1 to 3893)
  AUTHORS   Korhonen,J., Lahtinen,I., Halmekyto,M., Alhonen,L., Janne,J.,
            Dumont,D. and Alitalo,K.
  TITLE     Endothelial-specific gene expression directed by the tie gene
            promoter in vivo
  JOURNAL   Blood 86 (5), 1828-1835 (1995)
   PUBMED   7655012
REFERENCE   9  (bases 1 to 3893)
  AUTHORS   Sato,T.N., Tozawa,Y., Deutsch,U., Wolburg-Buchholz,K., Fujiwara,Y.,
            Gendron-Maguire,M., Gridley,T., Wolburg,H., Risau,W. and Qin,Y.
  TITLE     Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in
            blood vessel formation
  JOURNAL   Nature 376 (6535), 70-74 (1995)
   PUBMED   7596437
REFERENCE   10 (bases 1 to 3893)
  AUTHORS   Partanen,J., Armstrong,E., Makela,T.P., Korhonen,J., Sandberg,M.,
            Renkonen,R., Knuutila,S., Huebner,K. and Alitalo,K.
  TITLE     A novel endothelial cell surface receptor tyrosine kinase with
            extracellular epidermal growth factor homology domains
  JOURNAL   Mol Cell Biol 12 (4), 1698-1707 (1992)
   PUBMED   1312667
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB287371.1, BC038239.1 and
            R13130.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005424.4.
            
            Summary: This gene encodes a member of the tyrosine protein kinase
            family. The encoded protein plays a critical role in angiogenesis
            and blood vessel stability by inhibiting angiopoietin 1 signaling
            through the endothelial receptor tyrosine kinase Tie2. Ectodomain
            cleavage of the encoded protein relieves inhibition of Tie2 and is
            mediated by multiple factors including vascular endothelial growth
            factor. Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Nov
            2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC038239.1, X60957.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372476.8/ ENSP00000361554.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DB287371.1         89-99
            12-2423             BC038239.1         1-2412
            2424-2424           R13130.1           6-6
            2425-3893           BC038239.1         2414-3882
FEATURES             Location/Qualifiers
     source          1..3893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..3893
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /note="tyrosine kinase with immunoglobulin like and EGF
                     like domains 1"
                     /db_xref="GeneID:7075"
                     /db_xref="HGNC:HGNC:11809"
                     /db_xref="MIM:600222"
     exon            1..148
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..3507
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; tyrosine kinase with immunoglobulin and
                     epidermal growth factor homology domains 1;
                     tyrosine-protein kinase receptor Tie-1"
                     /codon_start=1
                     /product="tyrosine-protein kinase receptor Tie-1 isoform 1
                     precursor"
                     /protein_id="NP_005415.1"
                     /db_xref="CCDS:CCDS482.1"
                     /db_xref="GeneID:7075"
                     /db_xref="HGNC:HGNC:11809"
                     /db_xref="MIM:600222"
                     /translation="MVWRVPPFLLPILFLASHVGAAVDLTLLANLRLTDPQRFFLTCV
                     SGEAGAGRGSDAWGPPLLLEKDDRIVRTPPGPPLRLARNGSHQVTLRGFSKPSDLVGV
                     FSCVGGAGARRTRVIYVHNSPGAHLLPDKVTHTVNKGDTAVLSARVHKEKQTDVIWKS
                     NGSYFYTLDWHEAQDGRFLLQLPNVQPPSSGIYSATYLEASPLGSAFFRLIVRGCGAG
                     RWGPGCTKECPGCLHGGVCHDHDGECVCPPGFTGTRCEQACREGRFGQSCQEQCPGIS
                     GCRGLTFCLPDPYGCSCGSGWRGSQCQEACAPGHFGADCRLQCQCQNGGTCDRFSGCV
                     CPSGWHGVHCEKSDRIPQILNMASELEFNLETMPRINCAAAGNPFPVRGSIELRKPDG
                     TVLLSTKAIVEPEKTTAEFEVPRLVLADSGFWECRVSTSGGQDSRRFKVNVKVPPVPL
                     AAPRLLTKQSRQLVVSPLVSFSGDGPISTVRLHYRPQDSTMDWSTIVVDPSENVTLMN
                     LRPKTGYSVRVQLSRPGEGGEGAWGPPTLMTTDCPEPLLQPWLEGWHVEGTDRLRVSW
                     SLPLVPGPLVGDGFLLRLWDGTRGQERRENVSSPQARTALLTGLTPGTHYQLDVQLYH
                     CTLLGPASPPAHVLLPPSGPPAPRHLHAQALSDSEIQLTWKHPEALPGPISKYVVEVQ
                     VAGGAGDPLWIDVDRPEETSTIIRGLNASTRYLFRMRASIQGLGDWSNTVEESTLGNG
                     LQAEGPVQESRAAEEGLDQQLILAVVGSVSATCLTILAALLTLVCIRRSCLHRRRTFT
                     YQSGSGEETILQFSSGTLTLTRRPKLQPEPLSYPVLEWEDITFEDLIGEGNFGQVIRA
                     MIKKDGLKMNAAIKMLKEYASENDHRDFAGELEVLCKLGHHPNIINLLGACKNRGYLY
                     IAIEYAPYGNLLDFLRKSRVLETDPAFAREHGTASTLSSRQLLRFASDAANGMQYLSE
                     KQFIHRDLAARNVLVGENLASKIADFGLSRGEEVYVKKTMGRLPVRWMAIESLNYSVY
                     TTKSDVWSFGVLLWEIVSLGGTPYCGMTCAELYEKLPQGYRMEQPRNCDDEVYELMRQ
                     CWRDRPYERPPFAQIALQLGRMLEARKAYVNMSLFENFTYAGIDATAEEA"
     exon            149..463
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            464..574
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            575..730
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            731..862
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1003
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1132
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1278
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1423
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1582
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1720
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            1721..2017
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2308
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..2499
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            2500..2710
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            2711..2821
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            2822..3012
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            3013..3126
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            3127..3197
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            3198..3238
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            3239..3335
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            3336..3435
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     exon            3436..3893
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3871..3876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /note="hexamer: AATAAA"
     polyA_site      3893
                     /gene="TIE1"
                     /gene_synonym="JTK14; LMPHM11; TIE"
                     /note="major polyA site"
ORIGIN      
        1 acactgacca acacaggctg agcagtcagg cccacagcat ctgaccccag gcccagctcg
       61 tcctggctgg cctgggtcgg cctctggagt atggtctggc gggtgccccc tttcttgctc
      121 cccatcctct tcttggcttc tcatgtgggc gcggcggtgg acctgacgct gctggccaac
      181 ctgcggctca cggaccccca gcgcttcttc ctgacttgcg tgtctgggga ggccggggcg
      241 gggaggggct cggacgcctg gggcccgccc ctgctgctgg agaaggacga ccgtatcgtg
      301 cgcaccccgc ccgggccacc cctgcgcctg gcgcgcaacg gttcgcacca ggtcacgctt
      361 cgcggcttct ccaagccctc ggacctcgtg ggcgtcttct cctgcgtggg cggtgctggg
      421 gcgcggcgca cgcgcgtcat ctacgtgcac aacagccctg gagcccacct gcttccagac
      481 aaggtcacac acactgtgaa caaaggtgac accgctgtac tttctgcacg tgtgcacaag
      541 gagaagcaga cagacgtgat ctggaagagc aacggatcct acttctacac cctggactgg
      601 catgaagccc aggatgggcg gttcctgctg cagctcccaa atgtgcagcc accatcgagc
      661 ggcatctaca gtgccactta cctggaagcc agccccctgg gcagcgcctt ctttcggctc
      721 atcgtgcggg gttgtggggc tgggcgctgg gggccaggct gtaccaagga gtgcccaggt
      781 tgcctacatg gaggtgtctg ccacgaccat gacggcgaat gtgtatgccc ccctggcttc
      841 actggcaccc gctgtgaaca ggcctgcaga gagggccgtt ttgggcagag ctgccaggag
      901 cagtgcccag gcatatcagg ctgccggggc ctcaccttct gcctcccaga cccctatggc
      961 tgctcttgtg gatctggctg gagaggaagc cagtgccaag aagcttgtgc ccctggtcat
     1021 tttggggctg attgccgact ccagtgccag tgtcagaatg gtggcacttg tgaccggttc
     1081 agtggttgtg tctgcccctc tgggtggcat ggagtgcact gtgagaagtc agaccggatc
     1141 ccccagatcc tcaacatggc ctcagaactg gagttcaact tagagacgat gccccggatc
     1201 aactgtgcag ctgcagggaa ccccttcccc gtgcggggca gcatagagct acgcaagcca
     1261 gacggcactg tgctcctgtc caccaaggcc attgtggagc cagagaagac cacagctgag
     1321 ttcgaggtgc cccgcttggt tcttgcggac agtgggttct gggagtgccg tgtgtccaca
     1381 tctggcggcc aagacagccg gcgcttcaag gtcaatgtga aagtgccccc cgtgcccctg
     1441 gctgcacctc ggctcctgac caagcagagc cgccagcttg tggtctcccc gctggtctcg
     1501 ttctctgggg atggacccat ctccactgtc cgcctgcact accggcccca ggacagtacc
     1561 atggactggt cgaccattgt ggtggacccc agtgagaacg tgacgttaat gaacctgagg
     1621 ccaaagacag gatacagtgt tcgtgtgcag ctgagccggc caggggaagg aggagagggg
     1681 gcctgggggc ctcccaccct catgaccaca gactgtcctg agcctttgtt gcagccgtgg
     1741 ttggagggct ggcatgtgga aggcactgac cggctgcgag tgagctggtc cttgcccttg
     1801 gtgcccgggc cactggtggg cgacggtttc ctgctgcgcc tgtgggacgg gacacggggg
     1861 caggagcggc gggagaacgt ctcatccccc caggcccgca ctgccctcct gacgggactc
     1921 acgcctggca cccactacca gctggatgtg cagctctacc actgcaccct cctgggcccg
     1981 gcctcgcccc ctgcacacgt gcttctgccc cccagtgggc ctccagcccc ccgacacctc
     2041 cacgcccagg ccctctcaga ctccgagatc cagctgacat ggaagcaccc ggaggctctg
     2101 cctgggccaa tatccaagta cgttgtggag gtgcaggtgg ctgggggtgc aggagaccca
     2161 ctgtggatag acgtggacag gcctgaggag acaagcacca tcatccgtgg cctcaacgcc
     2221 agcacgcgct acctcttccg catgcgggcc agcattcagg ggctcgggga ctggagcaac
     2281 acagtagaag agtccaccct gggcaacggg ctgcaggctg agggcccagt ccaagagagc
     2341 cgggcagctg aagagggcct ggatcagcag ctgatcctgg cggtggtggg ctccgtgtct
     2401 gccacctgcc tcaccatcct ggctgccctt ttaaccctgg tgtgcatccg cagaagctgc
     2461 ctgcatcgga gacgcacctt cacctaccag tcaggctcgg gcgaggagac catcctgcag
     2521 ttcagctcag ggaccttgac acttacccgg cggccaaaac tgcagcccga gcccctgagc
     2581 tacccagtgc tagagtggga ggacatcacc tttgaggacc tcatcgggga ggggaacttc
     2641 ggccaggtca tccgggccat gatcaagaag gacgggctga agatgaacgc agccatcaaa
     2701 atgctgaaag agtatgcctc tgaaaatgac catcgtgact ttgcgggaga actggaagtt
     2761 ctgtgcaaat tggggcatca ccccaacatc atcaacctcc tgggggcctg taagaaccga
     2821 ggttacttgt atatcgctat tgaatatgcc ccctacggga acctgctaga ttttctgcgg
     2881 aaaagccggg tcctagagac tgacccagct tttgctcgag agcatgggac agcctctacc
     2941 cttagctccc ggcagctgct gcgtttcgcc agtgatgcgg ccaatggcat gcagtacctg
     3001 agtgagaagc agttcatcca cagggacctg gctgcccgga atgtgctggt cggagagaac
     3061 ctagcctcca agattgcaga cttcggcctt tctcggggag aggaggttta tgtgaagaag
     3121 acgatggggc gtctccctgt gcgctggatg gccattgagt ccctgaacta cagtgtctat
     3181 accaccaaga gtgatgtctg gtcctttgga gtccttcttt gggagatagt gagccttgga
     3241 ggtacaccct actgtggcat gacctgtgcc gagctctatg aaaagctgcc ccagggctac
     3301 cgcatggagc agcctcgaaa ctgtgacgat gaagtgtacg agctgatgcg tcagtgctgg
     3361 cgggaccgtc cctatgagcg accccccttt gcccagattg cgctacagct aggccgcatg
     3421 ctggaagcca ggaaggccta tgtgaacatg tcgctgtttg agaacttcac ttacgcgggc
     3481 attgatgcca cagctgagga ggcctgagct gccatccagc cagaacgtgg ctctgctggc
     3541 cggagcaaac tctgctgtct aacctgtgac cagtctgacc cttacagcct ctgacttaag
     3601 ctgcctcaag gaattttttt aacttaaggg agaaaaaaag ggatctgggg atggggtggg
     3661 cttaggggaa ctgggttccc atgctttgta ggtgtctcat agctatcctg ggcatccttc
     3721 tttctagttc agctgcccca caggtgtgtt tcccatccca ctgctccccc aacacaaacc
     3781 cccactccag ctccttcgct taagccagca ctcacaccac taacatgccc tgttcagcta
     3841 ctcccactcc cggcctgtca ttcagaaaaa aataaatgtt ctaataagct cca
//
