LOCUS       NM_017671               4637 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FERM domain containing kindlin 1 (FERMT1), mRNA.
ACCESSION   NM_017671
VERSION     NM_017671.5
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 4637)
  AUTHORS   Pan,Z., Ke,C., Zheng,H., Guo,X., Gao,W., Huang,X., Chen,C.,
            Xiong,Y., Zheng,S., Zheng,F. and Hu,W.
  TITLE     FERMT1 suppression induces anti-tumor effects and reduces stemness
            in glioma cancer cells
  JOURNAL   J Cancer Res Clin Oncol 150 (7), 338 (2024)
   PUBMED   38976072
  REMARK    GeneRIF: FERMT1 suppression induces anti-tumor effects and reduces
            stemness in glioma cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4637)
  AUTHORS   Liu,B., Feng,Y., Xie,N., Yang,Y. and Yang,D.
  TITLE     FERMT1 promotes cell migration and invasion in non-small cell lung
            cancer via regulating PKP3-mediated activation of p38 MAPK
            signaling
  JOURNAL   BMC Cancer 24 (1), 58 (2024)
   PUBMED   38200443
  REMARK    GeneRIF: FERMT1 promotes cell migration and invasion in non-small
            cell lung cancer via regulating PKP3-mediated activation of p38
            MAPK signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4637)
  AUTHORS   Wu,Q., Li,J., Wang,P., Peng,Q., Kang,Z., Deng,Y., Li,J., Yan,D.,
            Ge,F. and Chen,Y.
  TITLE     FERMT1 Is a Prognostic Marker Involved in Immune Infiltration of
            Pancreatic Adenocarcinoma Correlating with m6A Modification and
            Necroptosis
  JOURNAL   Genes (Basel) 14 (3), 734 (2023)
   PUBMED   36981005
  REMARK    GeneRIF: FERMT1 Is a Prognostic Marker Involved in Immune
            Infiltration of Pancreatic Adenocarcinoma Correlating with m[6]A
            Modification and Necroptosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4637)
  AUTHORS   Azorin,P., Bonin,F., Tariq,Z., Petitalot,A., Coussy,F.,
            Marangoni,E., Becette,V., Denoux,Y., Vincent-Salomon,A., Le
            Tourneau,C., Larbi Cherif,L., Klijanienko,J., Kamal,M., Bieche,I.,
            Lidereau,R. and Driouch,K.
  TITLE     Kindlin-1 modulates the EGFR pathway and predicts sensitivity to
            EGFR inhibitors across cancer types
  JOURNAL   Clin Transl Med 12 (4), e813 (2022)
   PUBMED   35452191
  REMARK    GeneRIF: Kindlin-1 modulates the EGFR pathway and predicts
            sensitivity to EGFR inhibitors across cancer types.
REFERENCE   5  (bases 1 to 4637)
  AUTHORS   Kloeker,S., Major,M.B., Calderwood,D.A., Ginsberg,M.H., Jones,D.A.
            and Beckerle,M.C.
  TITLE     The Kindler syndrome protein is regulated by transforming growth
            factor-beta and involved in integrin-mediated adhesion
  JOURNAL   J Biol Chem 279 (8), 6824-6833 (2004)
   PUBMED   14634021
  REMARK    GeneRIF: kindlerin has a role in mediating cell processes that
            depend on integrins
REFERENCE   6  (bases 1 to 4637)
  AUTHORS   Ashton,G.H., McLean,W.H., South,A.P., Oyama,N., Smith,F.J.,
            Al-Suwaid,R., Al-Ismaily,A., Atherton,D.J., Harwood,C.A.,
            Leigh,I.M., Moss,C., Didona,B., Zambruno,G., Patrizi,A., Eady,R.A.
            and McGrath,J.A.
  TITLE     Recurrent mutations in kindlin-1, a novel keratinocyte focal
            contact protein, in the autosomal recessive skin fragility and
            photosensitivity disorder, Kindler syndrome
  JOURNAL   J Invest Dermatol 122 (1), 78-83 (2004)
   PUBMED   14962093
  REMARK    GeneRIF: loss-of-function KIND1 mutations demonstrate the
            importance of kindlin-1 in maintaining epithelial integrity
REFERENCE   7  (bases 1 to 4637)
  AUTHORS   Siegel,D.H., Ashton,G.H., Penagos,H.G., Lee,J.V., Feiler,H.S.,
            Wilhelmsen,K.C., South,A.P., Smith,F.J., Prescott,A.R.,
            Wessagowit,V., Oyama,N., Akiyama,M., Al Aboud,D., Al Aboud,K., Al
            Githami,A., Al Hawsawi,K., Al Ismaily,A., Al-Suwaid,R.,
            Atherton,D.J., Caputo,R., Fine,J.D., Frieden,I.J., Fuchs,E.,
            Haber,R.M., Harada,T., Kitajima,Y., Mallory,S.B., Ogawa,H.,
            Sahin,S., Shimizu,H., Suga,Y., Tadini,G., Tsuchiya,K., Wiebe,C.B.,
            Wojnarowska,F., Zaghloul,A.B., Hamada,T., Mallipeddi,R., Eady,R.A.,
            McLean,W.H., McGrath,J.A. and Epstein,E.H.
  TITLE     Loss of kindlin-1, a human homolog of the Caenorhabditis elegans
            actin-extracellular-matrix linker protein UNC-112, causes Kindler
            syndrome
  JOURNAL   Am J Hum Genet 73 (1), 174-187 (2003)
   PUBMED   12789646
REFERENCE   8  (bases 1 to 4637)
  AUTHORS   Weinstein,E.J., Bourner,M., Head,R., Zakeri,H., Bauer,C. and
            Mazzarella,R.
  TITLE     URP1: a member of a novel family of PH and FERM domain-containing
            membrane-associated proteins is significantly over-expressed in
            lung and colon carcinomas
  JOURNAL   Biochim Biophys Acta 1637 (3), 207-216 (2003)
   PUBMED   12697302
REFERENCE   9  (bases 1 to 4637)
  AUTHORS   Jobard,F., Bouadjar,B., Caux,F., Hadj-Rabia,S., Has,C., Matsuda,F.,
            Weissenbach,J., Lathrop,M., Prud'homme,J.F. and Fischer,J.
  TITLE     Identification of mutations in a new gene encoding a FERM family
            protein with a pleckstrin homology domain in Kindler syndrome
  JOURNAL   Hum Mol Genet 12 (8), 925-935 (2003)
   PUBMED   12668616
REFERENCE   10 (bases 1 to 4637)
  AUTHORS   Youssefian,L., Vahidnezhad,H. and Uitto,J.
  TITLE     Kindler Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26937547
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB105105.1, BC040545.1 and
            AK000123.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 18, 2019 this sequence version replaced NM_017671.4.
            
            Summary: This gene encodes a member of the fermitin family, and
            contains a FERM domain and a pleckstrin homology domain. The
            encoded protein is involved in integrin signaling and linkage of
            the actin cytoskeleton to the extracellular matrix. Mutations in
            this gene have been linked to Kindler syndrome. [provided by
            RefSeq, Dec 2009].
            
            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 :: AB105105.1, AF443278.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217289.9/ ENSP00000217289.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1849              AB105105.1         515-2363
            1850-3293           BC040545.1         1619-3062
            3294-3772           AB105105.1         3808-4286
            3773-4086           AK000123.1         2458-2771
            4087-4432           AK000123.1         2773-3118
            4433-4637           AB105105.1         4948-5152
FEATURES             Location/Qualifiers
     source          1..4637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.3"
     gene            1..4637
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /note="FERM domain containing kindlin 1"
                     /db_xref="GeneID:55612"
                     /db_xref="HGNC:HGNC:15889"
                     /db_xref="MIM:607900"
     exon            1..257
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            258..426
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             276..2309
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /note="UNC112 related protein 1; kindlerin; kindlin 1;
                     kindlin syndrome protein; unc-112-related protein 1;
                     fermitin family member 1"
                     /codon_start=1
                     /product="fermitin family homolog 1"
                     /protein_id="NP_060141.3"
                     /db_xref="CCDS:CCDS13098.1"
                     /db_xref="GeneID:55612"
                     /db_xref="HGNC:HGNC:15889"
                     /db_xref="MIM:607900"
                     /translation="MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVML
                     KLVEQINISQDWSDFALWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHKMLRLRLP
                     NLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPI
                     IEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSI
                     LAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYS
                     FFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDF
                     AGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQY
                     WFIFKDTSIAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNE
                     MYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRMKNRNSASQVASSL
                     ENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNVAQMPLVEAKLRFIQAWQSLPEFG
                     LTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIE
                     FDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD"
     exon            427..660
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..807
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            808..1021
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1124
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1232
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1364
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1414
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1539
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1646
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1647..1868
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1869..1993
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1994..2135
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2136..4637
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4614..4619
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /note="hexamer: AGTAAA"
     polyA_site      4637
                     /gene="FERMT1"
                     /gene_synonym="C20orf42; DTGCU2; KIND1; UNC112A; URP1"
                     /note="major polyA site"
ORIGIN      
        1 agtgcaccgg gcacgccgcg ccaggctggg ggcaggcacc gagcctccgt gggaggtccc
       61 gaggcagctt cgcctgctcg ccctggctcc agccctcacc tgccgcagcc ttagctgagc
      121 agccgccgcc actgggcgcc ccccgctccc cacttcgcca gcgcccgctc ctcggctcgg
      181 cccggggtag tttgtaggga cgcagctctc cacgtgcgcg actgcgaggc tggacgctac
      241 gggctcctgg aaaggagaca ccagcatttg ccacaatgct gtcatccact gactttacat
      301 ttgcttcctg ggagcttgtg gtccgcgttg accatcccaa tgaagagcag cagaaagacg
      361 tcacactgag agtatctgga gaccttcatg ttggaggagt gatgctcaag ttagtagaac
      421 agatcaatat atcccaagac tggtcagact ttgctctttg gtgggaacag aagcattgct
      481 ggcttctgaa aacccactgg accctggaca aatatggggt ccaggcagat gcaaagcttc
      541 tcttcacccc tcagcataaa atgctgcgcc ttcgtctgcc gaatttgaag atggtgaggt
      601 tgcgagtcag cttctcagct gtggttttta aagctgtcag tgatatctgc aaaatcctga
      661 atattagaag atcagaagag ctttccttgt taaagccgtc tggtgactat tttaagaaga
      721 agaagaaaaa agacaaaaat aataaggaac ccataattga agatattcta aacctggaga
      781 gttctccaac agcttcaggt tcatcagtaa gtcctggttt atacagtaaa accatgaccc
      841 ctatatatga ccccatcaat ggaacaccag catcatccac catgacttgg ttcagtgaca
      901 gccctttgac ggaacaaaac tgcagcatcc tcgcattcag ccaacccccc cagtccccag
      961 aagcacttgc ggatatgtac cagcctcggt ctctggttga taaagccaag ctcaatgcag
     1021 gttggctaga ctcctcacgc tcccttatgg aacaaggcat ccaagaggat gagcagctgc
     1081 tcttacgatt taaatattat tctttcttcg acttgaatcc taaatatgat gctgtccgaa
     1141 taaaccaact ctatgagcaa gccaggtggg ccattctctt agaagaaatt gattgcacag
     1201 aggaagaaat gttgatcttt gcagctctac agtaccacat tagcaaactg tcgttgtctg
     1261 ctgaaacaca ggattttgca ggcgagtccg aggttgatga aatagaagcg gcgctttcta
     1321 atttggaagt aaccctagaa ggtggaaaag cggacagcct tttggaggac attactgata
     1381 tccctaaact tgcagataat ctcaaattat ttaggcccaa gaagttacta ccaaaagctt
     1441 tcaaacaata ttggtttatc tttaaagaca catccatagc atactttaaa aataaggaac
     1501 ttgaacaagg agaaccacta gaaaaactaa atcttagagg ctgcgaagtt gtgcccgatg
     1561 taaatgtagc aggaagaaaa tttggaatca agttactaat ccctgttgcc gatggtatga
     1621 atgaaatgta tttgagatgt gaccatgaga atcaatacgc ccaatggatg gctgcctgca
     1681 tgttggcatc gaagggcaaa accatggcag acagctccta ccagccagag gtcctcaaca
     1741 tcctttcatt tctgaggatg aaaaacagga actctgcatc tcaggtggct tccagtctcg
     1801 aaaacatgga tatgaaccca gaatgttttg tgtcaccacg gtgtgcaaaa agacacaaat
     1861 ccaaacagct ggccgcccgg atcctggagg cgcaccagaa cgtggcccag atgcccctgg
     1921 tcgaagccaa gctgcggttc atccaggcgt ggcagtcact gcctgagttt ggcctcacct
     1981 actaccttgt cagatttaaa ggaagcaaaa aagatgacat tctgggagtt tcatataaca
     2041 ggttgattaa aattgatgca gccaccggga ttccagtgac aacatggaga ttcacaaata
     2101 tcaaacagtg gaatgtaaac tgggaaaccc ggcaggtggt catcgagttt gaccaaaacg
     2161 tctttactgc tttcacctgc ctgagtgcag attgcaagat tgtgcacgag tacattggcg
     2221 gctacatttt cttgtccacc cgctccaagg accagaatga aacactcgat gaggacttgt
     2281 tccacaaatt gaccggcggt caggattgaa acaagcacgc gtgctcggct cacaccaaca
     2341 aggcaagcca aaggcgcccc tccccagagg gatccctaac gtgcccagca tgtagattct
     2401 ggactaacag acaacataca ttcaccgctg gtcacccaga tcctcattca aacccactgc
     2461 tggcacatcc ctttccttac tttgccctgt gctaccagcc acggaaggag cctctcttgt
     2521 tttttctata aaatgggtag gcaggagaaa agcaggtgcc ctaagattgc tctaaggccc
     2581 agcatgtggt tacagttctc tgacttgcag aacctgccag gtgtatggct acaagttatc
     2641 ctcgtgctga tctgtctcat tactaagtca atggagaaga cagaaaggta aaaatcacgt
     2701 gtagcaagaa caactcttat ttcacaaact caggtatgaa acgaaacgcc tgtccttcat
     2761 ggaactgctt ttagctcctg tcttttcaaa atggcagagg gagttcctac acacactttt
     2821 tccctggagg ccaaggtcta ggggtagaaa ggggaggggt ggggctacca ggtagcagtt
     2881 gacaacccaa ggtcagagga gtggccctca gtgtcatctg tccacagtga tacctgccaa
     2941 gatgaccact gacccacatc tggtcttagt cattggtctc ctcagatttc tggggccacc
     3001 tgcaagcccc attccattcc tacagatctc tcagccacct gtaagtcctt tgtgaagatg
     3061 tgggtgacac agggggacag gaaaacccat ttctcaaccc agatccatgt ctccactgct
     3121 tctactctgg gttgggattc aggaagacag gcacagtcct ctctgttcat agaaacacct
     3181 gccagtgtca aggattccag tcaggtgtct atcccaactg gtcagggaga gaagggcaga
     3241 cccattctca aagaccacca tgtccaaggt ctgacagctc cccactggct gcccccacag
     3301 gggctttagg ctggtctggg tcatggggaa gcgtccctct tatcgctggt ctgtgttctc
     3361 ctggatttgg tatctatgtt ggtacgactc ctggcctttt atctaaagga ctttggcttt
     3421 tgtaaatcac aagccaataa tagacttttt tctccccctc tgttttttgc tgtgtcatct
     3481 ctgccttgag actgccttga gacagtgctt gccttgagag agtgagccaa ttaacagctg
     3541 cctgaattgt cattttccat tttggtttgt tagaggtggg aggggtgggt tttgagaagg
     3601 tcaaaagcaa taccagaagt aaagggaaat atcagacaat attttattat tttttcatag
     3661 atgttctgcc acacaaagaa cttggggtgt aaggataagg caaaagctcc aatcccattt
     3721 ttcagttctc ctaggatgca cccctcaggg agcctggcca gagttccgag gcccgtgagc
     3781 gtcagctgtt gctttatttt ccatcaaagc cctctgagaa gtgagacctc agcaattccg
     3841 ggagccacat agagacagac ttggcaaggg accccctggt tctgagccag tagctgccat
     3901 ctggaaattc ctcttttagc ctctccttag aggtgaatgt gaatgaagcc tcccaggcac
     3961 ccgctgaatt tctgaggcct tgcttaaagc tcagaagtgg tttaggcatt tggaaaatct
     4021 ggttcacatc ataaagaact tgatttgaaa tgttttctat agaaacaagt gctaagtgta
     4081 ccgtatatac ttgatgttgg tcatttctca gtcctatttc tcagttctat tattttagaa
     4141 cctagtcagt tctttaagat tataactggt cctacattaa aataatgctt ctcgatgtca
     4201 gattttacct gtttgctgct gagaacatct ctgcctaatt taccaaagcc agaccttcag
     4261 ttcaacatgc ttccttagct tttcatagtt gtctgacatt tccatgaaaa caaaggaacc
     4321 aactttgttt taaccaaact ttgtttggtt acagttttca ggggagcgtt tcttccatga
     4381 cacacagcaa catcccaaag aaataaacaa gtgtgacaaa aaaaaaaaaa aacaaaccta
     4441 aatgctactg ttccaaagag caacttgatg gtttttttta atactgagtg caaaaggtca
     4501 cccaaattcc tatgatgaaa ttttaaatta atgggcacct ttcaacatca tttgcttcct
     4561 tatctacagt tgattcagaa atctgcattt tttattcttt tatatgactt ttaagtaaaa
     4621 gatttatatg gatttga
//
