LOCUS       NM_031471               2499 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens FERM domain containing kindlin 3 (FERMT3), transcript
            variant URP2SF, mRNA.
ACCESSION   NM_031471
VERSION     NM_031471.6
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 2499)
  AUTHORS   Reger De Moura,C., Louveau,B., Jouenne,F., Vilquin,P.,
            Battistella,M., Bellahsen-Harrar,Y., Sadoux,A., Menashi,S.,
            Dumaz,N., Lebbe,C. and Mourah,S.
  TITLE     Inactivation of kindlin-3 increases human melanoma aggressiveness
            through the collagen-activated tyrosine kinase receptor DDR1
  JOURNAL   Oncogene 43 (21), 1620-1630 (2024)
   PUBMED   38570692
  REMARK    GeneRIF: Inactivation of kindlin-3 increases human melanoma
            aggressiveness through the collagen-activated tyrosine kinase
            receptor DDR1.
REFERENCE   2  (bases 1 to 2499)
  AUTHORS   Li,N., Ren,P., Wang,J., Zhu,X., Qiao,X., Zeng,Z., Ye,T., Wang,S.,
            Meng,Z., Gan,H., Liu,S., Sun,Y., Zhu,X., Dou,G. and Gu,R.
  TITLE     Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers
            Associated with Sepsis
  JOURNAL   Int J Mol Sci 25 (2), 749 (2024)
   PUBMED   38255822
  REMARK    GeneRIF: Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers
            Associated with Sepsis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2499)
  AUTHORS   Szpak,D., Turpin,C., Goreke,U., Bialkowska,K., Bledzka,K.M.,
            Verbovetskiy,D., Mohandas,N., Gurkan,U.A., Qin,J., Plow,E.F. and
            Pluskota,E.
  TITLE     Kindlin-3 deficiency leads to impaired erythropoiesis and
            erythrocyte cytoskeleton
  JOURNAL   Blood Adv 7 (9), 1739-1753 (2023)
   PUBMED   36649586
  REMARK    GeneRIF: Kindlin-3 deficiency leads to impaired erythropoiesis and
            erythrocyte cytoskeleton.
REFERENCE   4  (bases 1 to 2499)
  AUTHORS   Koker,N., Deveci,I., van Leeuwen,K., Akbayram,S., Roos,D.,
            Kuijpers,T.W. and Koker,M.Y.
  TITLE     A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
  JOURNAL   J Clin Immunol 43 (4), 741-746 (2023)
   PUBMED   36648575
  REMARK    GeneRIF: A Novel Deletion in FERMT3 Causes LAD-III in a Turkish
            Family.
REFERENCE   5  (bases 1 to 2499)
  AUTHORS   Tang,Y., Nan,N., Gui,C., Zhou,X., Jiang,W. and Zhou,X.
  TITLE     Blockage of PD-L1 by FERMT3-mediated Wnt/beta-catenin signalling
            regulates chemoresistance and immune evasion of colorectal cancer
            cells
  JOURNAL   Clin Exp Pharmacol Physiol 49 (9), 988-997 (2022)
   PUBMED   35672907
  REMARK    GeneRIF: Blockage of PD-L1 by FERMT3-mediated Wnt/beta-catenin
            signalling regulates chemoresistance and immune evasion of
            colorectal cancer cells.
REFERENCE   6  (bases 1 to 2499)
  AUTHORS   Wang,L., Deng,W., Shi,T. and Ma,D.
  TITLE     URP2SF, a FERM and PH domain containing protein, regulates
            NF-kappaB and apoptosis
  JOURNAL   Biochem Biophys Res Commun 368 (4), 899-906 (2008)
   PUBMED   18280249
  REMARK    GeneRIF: our data show for the first time that URP2SF may act as a
            transcriptional repressor in NF-kappaB signaling pathway and
            regulate cell apoptotic pathway.
REFERENCE   7  (bases 1 to 2499)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (bases 1 to 2499)
  AUTHORS   Boyd,R.S., Adam,P.J., Patel,S., Loader,J.A., Berry,J.,
            Redpath,N.T., Poyser,H.R., Fletcher,G.C., Burgess,N.A.,
            Stamps,A.C., Hudson,L., Smith,P., Griffiths,M., Willis,T.G.,
            Karran,E.L., Oscier,D.G., Catovsky,D., Terrett,J.A. and Dyer,M.J.
  TITLE     Proteomic analysis of the cell-surface membrane in chronic
            lymphocytic leukemia: identification of two novel proteins, BCNP1
            and MIG2B
  JOURNAL   Leukemia 17 (8), 1605-1612 (2003)
   PUBMED   12886250
  REMARK    GeneRIF: expressed preferentially in B cells; MIG2B is in a highly
            conserved and defined gene family containing two
            plasma-membrane-binding ezrin/radixin/moesin domains and a
            pleckstrin homology domain
REFERENCE   9  (bases 1 to 2499)
  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   10 (bases 1 to 2499)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL560215.3, BC015584.2 and
            BG491422.1.
            
            On Jun 2, 2019 this sequence version replaced NM_031471.5.
            
            Summary: Kindlins are a small family of proteins that mediate
            protein-protein interactions involved in integrin activation and
            thereby have a role in cell adhesion, migration, differentiation,
            and proliferation. The protein encoded by this gene has a key role
            in the regulation of hemostasis and thrombosis. This protein may
            also help maintain the membrane skeleton of erythrocytes. Mutations
            in this gene cause the autosomal recessive leukocyte adhesion
            deficiency syndrome-III (LAD-III). Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Jan 2010].
            
            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 :: BC015584.2, SRR1803616.14668.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345728.10/ ENSP00000339950.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AL560215.3         42-61
            21-2134             BC015584.2         1-2114
            2135-2499           BG491422.1         358-722
FEATURES             Location/Qualifiers
     source          1..2499
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2499
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /note="FERM domain containing kindlin 3"
                     /db_xref="GeneID:83706"
                     /db_xref="HGNC:HGNC:23151"
                     /db_xref="MIM:607901"
     exon            1..94
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            95..268
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..2100
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /note="short isoform is encoded by transcript variant
                     URP2SF; UNC-112 related protein 2; kindlin 3; MIG2-like
                     protein; unc-112-related protein 2; fermitin family
                     homolog 3; fermitin family member 3"
                     /codon_start=1
                     /product="fermitin family homolog 3 short isoform"
                     /protein_id="NP_113659.3"
                     /db_xref="CCDS:CCDS8059.1"
                     /db_xref="GeneID:83706"
                     /db_xref="HGNC:HGNC:23151"
                     /db_xref="MIM:607901"
                     /translation="MAGMKTASGDYIDSSWELRVFVGEEDPEAESVTLRVTGESHIGG
                     VLLKIVEQINRKQDWSDHAIWWEQKRQWLLQTHWTLDKYGILADARLFFGPQHRPVIL
                     RLPNRRALRLRASFSQPLFQAVAAICRLLSIRHPEELSLLRAPEKKEKKKKEKEPEEE
                     LYDLSKVVLAGGVAPALFRGMPAHFSDSAQTEACYHMLSRPQPPPDPLLLQRLPRPSS
                     LSDKTQLHSRWLDSSRCLMQQGIKAGDALWLRFKYYSFFDLDPKTDPVRLTQLYEQAR
                     WDLLLEEIDCTEEEMMVFAALQYHINKLSQSGEVGEPAGTDPGLDDLDVALSNLEVKL
                     EGSAPTDVLDSLTTIPELKDHLRIFRPRKLTLKGYRQHWVVFKETTLSYYKSQDEAPG
                     DPIQQLNLKGCEVVPDVNVSGQKFCIKLLVPSPEGMSEIYLRCQDEQQYARWMAGCRL
                     ASKGRTMADSSYTSEVQAILAFLSLQRTGSGGPGNHPHGPDASAEGLNPYGLVAPRFQ
                     RKFKAKQLTPRILEAHQNVAQLSLAEAQLRFIQAWQSLPDFGISYVMVRFKGSRKDEI
                     LGIANNRLIRIDLAVGDVVKTWRFSNMRQWNVNWDIRQVAIEFDEHINVAFSCVSASC
                     RIVHEYIGGYIFLSTRERARGEELDEDLFLQLTGGHEAF"
     exon            269..502
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            503..622
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            623..791
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            792..894
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1002
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1137
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1187
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1312
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1419
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1653
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1654..1778
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1920
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2499
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2437
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /note="major polyA site"
     regulatory      2470..2475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /note="hexamer: TATAAA"
     polyA_site      2479
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
     polyA_site      2499
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
ORIGIN      
        1 aggaagctcc aaagagaaag gagggcagga agcccacggc ccacaggggt gtagcccgag
       61 acccacctgc agcccccagc ccttgccagg aaagcagcag ccgcagccat ggcggggatg
      121 aagacagcct ccggggacta catcgactcg tcatgggagc tgcgggtgtt tgtgggagag
      181 gaggacccag aggccgagtc ggtcaccctg cgggtcactg gggagtcgca catcggcggg
      241 gtgctcctga agattgtgga gcagatcaat cgcaagcagg actggtcaga ccatgctatt
      301 tggtgggaac agaagaggca gtggctgctg cagacccact ggacactgga caagtacggg
      361 atcctggccg acgcacgcct cttctttggg ccccagcacc ggcccgtcat ccttcggttg
      421 cccaaccgcc gcgcactgcg cctccgtgcc agcttctccc agcccctctt ccaggctgtg
      481 gctgccatct gccgcctcct cagcatccgg caccccgagg agctgtccct gctccgggct
      541 cctgagaaga aggagaagaa gaagaaagag aaggagccag aggaagagct ctatgacttg
      601 agcaaggttg tcttggctgg gggcgtggca cctgcactgt tccgggggat gccagctcac
      661 ttctcggaca gcgcccagac tgaggcctgc taccacatgc tgagccggcc ccagccgcca
      721 cccgaccccc tcctgctcca gcgtctgcca cggcccagct ccctgtcaga caagacccag
      781 ctccacagca ggtggctgga ctcgtcgcgg tgtctcatgc agcagggcat caaggccggg
      841 gacgcactct ggctgcgctt caagtactac agcttcttcg atttggatcc caagacagac
      901 cccgtgcggc tgacacagct gtatgagcag gcccggtggg acctgctgct ggaggagatt
      961 gactgcaccg aggaggagat gatggtgttt gccgccctgc agtaccacat caacaagctg
     1021 tcccagagcg gggaggtggg ggagccggct ggcacagacc cagggctgga cgacctggat
     1081 gtggccctga gcaacctgga ggtgaagctg gaggggtcgg cgcccacaga tgtgctggac
     1141 agcctcacca ccatcccaga gctcaaggac catctccgaa tctttcggcc ccggaagctg
     1201 accctgaagg gctaccgcca acactgggtg gtgttcaagg agaccacact gtcctactac
     1261 aagagccagg acgaggcccc tggggacccc attcagcagc tcaacctcaa gggctgtgag
     1321 gtggttcccg atgttaacgt ctccggccag aagttctgca ttaaactcct agtgccctcc
     1381 cctgagggca tgagtgagat ctacctgcgg tgccaggatg agcagcagta tgcccgctgg
     1441 atggctggct gccgcctggc ctccaaaggc cgcaccatgg ccgacagcag ctacaccagc
     1501 gaggtgcagg ccatcctggc cttcctcagc ctgcagcgca cgggcagtgg gggcccgggc
     1561 aaccaccccc acggccctga tgcctctgcc gagggcctca acccctacgg cctcgttgcc
     1621 ccccgtttcc agcgaaagtt caaggccaag cagctcaccc cacggatcct ggaagcccac
     1681 cagaatgtgg cccagttgtc gctggcagag gcccagctgc gcttcatcca ggcctggcag
     1741 tccctgcccg acttcggcat ctcctatgtc atggtcaggt tcaagggcag caggaaagac
     1801 gagatcctgg gcatcgccaa caaccgactg atccgcatcg acttggccgt gggcgacgtg
     1861 gtcaagacct ggcgtttcag caacatgcgc cagtggaatg tcaactggga catccggcag
     1921 gtggccatcg agtttgatga acacatcaat gtggccttca gctgcgtgtc tgccagctgc
     1981 cgaattgtac acgagtatat cgggggctac attttcctgt cgacgcggga gcgggcccgt
     2041 ggggaggagc tggatgaaga cctcttcctg cagctcaccg ggggccatga ggccttctga
     2101 gggctgtctg attgcccctg ccctgctcac caccctgtca cagccactcc caagcccaca
     2161 cccacagggg ctcactgccc cacacccgct ccaggcaggc acccagctgg gcatttcacc
     2221 tgctgtcact gactttgtgc aggccaagga cctggcaggg ccagacgctg taccatcacc
     2281 caggccaggg atgggggtgg gggtccctga gctcatgtgg tgcccccttt ccttgtctga
     2341 gtggctgagg ctgatacccc tgacctatct gcagtccccc agcacacaag gaagaccaga
     2401 tgtagctaca ggatgatgaa acatggtttc aaacgagttc tttcttgtta ctttttaaaa
     2461 tttctttttt ataaattaat attttattgt tggatcctc
//
