LOCUS       NM_001244962             943 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens FERM domain containing 3 (FRMD3), transcript variant
            5, mRNA.
ACCESSION   NM_001244962
VERSION     NM_001244962.2
KEYWORDS    RefSeq.
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 943)
  AUTHORS   Shao,W., Li,J., Piao,Q., Yao,X., Li,M., Wang,S., Song,Z., Sun,Y.,
            Zheng,L., Wang,G., Liu,L., Yu,C., Huang,Y., Bao,Y. and Sun,L.
  TITLE     FRMD3 inhibits the growth and metastasis of breast cancer through
            the ubiquitination-mediated degradation of vimentin and subsequent
            impairment of focal adhesion
  JOURNAL   Cell Death Dis 14 (1), 13 (2023)
   PUBMED   36631457
  REMARK    GeneRIF: FRMD3 inhibits the growth and metastasis of breast cancer
            through the ubiquitination-mediated degradation of vimentin and
            subsequent impairment of focal adhesion.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 943)
  AUTHORS   Zellinger,B., Bodenhofer,U., Englander,I.A., Kronberger,C.,
            Grambozov,B., Ruznic,E., Stana,M., Karner,J., Fastner,G.,
            Sotlar,K., Sedlmayer,F. and Zehentmayr,F.
  TITLE     Hsa-miR-3651 could serve as a novel predictor for in-breast
            recurrence via FRMD3
  JOURNAL   Breast Cancer 29 (2), 274-286 (2022)
   PUBMED   34865205
  REMARK    GeneRIF: Hsa-miR-3651 could serve as a novel predictor for
            in-breast recurrence via FRMD3.
REFERENCE   3  (bases 1 to 943)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 943)
  AUTHORS   Al-waheeb,S., Alwohhaib,M., Abdelghani,A., Al-Sharrah,S.,
            Al-Shafey,E., Al-Sahow,A., Alyatama,N., Dashti,A.A. and Hussain,N.
  TITLE     Evaluation of associations between single nucleotide polymorphisms
            in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti
            population
  JOURNAL   Genet Mol Res 15 (1) (2016)
   PUBMED   26909942
  REMARK    GeneRIF: The risk (G and C) and non-risk (C and T) allele
            frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3
            and CARS, respectively, did not differ significantly between the
            diabetics with (case) and without (control) nephropathy (P > 0.05).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 943)
  AUTHORS   Martini,S., Nair,V., Patel,S.R., Eichinger,F., Nelson,R.G.,
            Weil,E.J., Pezzolesi,M.G., Krolewski,A.S., Randolph,A.,
            Keller,B.J., Werner,T. and Kretzler,M.
  TITLE     From single nucleotide polymorphism to transcriptional mechanism: a
            model for FRMD3 in diabetic nephropathy
  JOURNAL   Diabetes 62 (7), 2605-2612 (2013)
   PUBMED   23434934
  REMARK    GeneRIF: model for FRMD3 in diabetic nephropathy proposes a
            possible transcriptional link through which the polymorphism in the
            FRMD3 promoter could influence transcriptional regulation within
            the bone morphogenetic protein (BMP)-signaling pathway
REFERENCE   6  (bases 1 to 943)
  AUTHORS   Freedman,B.I., Langefeld,C.D., Lu,L., Divers,J., Comeau,M.E.,
            Kopp,J.B., Winkler,C.A., Nelson,G.W., Johnson,R.C., Palmer,N.D.,
            Hicks,P.J., Bostrom,M.A., Cooke,J.N., McDonough,C.W. and
            Bowden,D.W.
  TITLE     Differential effects of MYH9 and APOL1 risk variants on FRMD3
            Association with Diabetic ESRD in African Americans
  JOURNAL   PLoS Genet 7 (6), e1002150 (2011)
   PUBMED   21698141
  REMARK    GeneRIF: These analyses reveal a role for FRMD3 in AA T2DN
            susceptibility.
REFERENCE   7  (bases 1 to 943)
  AUTHORS   Maeda,S., Araki,S., Babazono,T., Toyoda,M., Umezono,T., Kawai,K.,
            Imanishi,M., Uzu,T., Watada,H., Suzuki,D., Kashiwagi,A.,
            Iwamoto,Y., Kaku,K., Kawamori,R. and Nakamura,Y.
  TITLE     Replication study for the association between four Loci identified
            by a genome-wide association study on European American subjects
            with type 1 diabetes and susceptibility to diabetic nephropathy in
            Japanese subjects with type 2 diabetes
  JOURNAL   Diabetes 59 (8), 2075-2079 (2010)
   PUBMED   20460425
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 943)
  AUTHORS   Pezzolesi,M.G., Poznik,G.D., Mychaleckyj,J.C., Paterson,A.D.,
            Barati,M.T., Klein,J.B., Ng,D.P., Placha,G., Canani,L.H.,
            Bochenski,J., Waggott,D., Merchant,M.L., Krolewski,B., Mirea,L.,
            Wanic,K., Katavetin,P., Kure,M., Wolkow,P., Dunn,J.S., Smiles,A.,
            Walker,W.H., Boright,A.P., Bull,S.B., Doria,A., Rogus,J.J.,
            Rich,S.S., Warram,J.H. and Krolewski,A.S.
  CONSRTM   DCCT/EDIC Research Group
  TITLE     Genome-wide association scan for diabetic nephropathy
            susceptibility genes in type 1 diabetes
  JOURNAL   Diabetes 58 (6), 1403-1410 (2009)
   PUBMED   19252134
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 943)
  AUTHORS   Haase,D., Meister,M., Muley,T., Hess,J., Teurich,S., Schnabel,P.,
            Hartenstein,B. and Angel,P.
  TITLE     FRMD3, a novel putative tumour suppressor in NSCLC
  JOURNAL   Oncogene 26 (30), 4464-4468 (2007)
   PUBMED   17260017
  REMARK    GeneRIF: identify FRMD3 as a novel putative tumour suppressor gene
            suggesting an important role in the origin and progression of lung
            cancer.
REFERENCE   10 (bases 1 to 943)
  AUTHORS   Ni,X., Ji,C., Cao,G., Cheng,H., Guo,L., Gu,S., Ying,K., Zhao,R.C.
            and Mao,Y.
  TITLE     Molecular cloning and characterization of the protein 4.1O gene, a
            novel member of the protein 4.1 family with focal expression in
            ovary
  JOURNAL   J Hum Genet 48 (2), 101-106 (2003)
   PUBMED   12601556
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC023560.1.
            
            On Jun 1, 2019 this sequence version replaced NM_001244962.1.
            
            Summary: The protein encoded by this gene is a single pass membrane
            protein primarily found in ovaries. A similar protein in
            erythrocytes helps determine the shape of red blood cells, but the
            function of the encoded protein has not been determined. There is
            some evidence that this is a tumor suppressor gene, and there is
            also evidence linking defects in this gene to susceptibility to
            diabetic nephropathy in type 1 diabetes. Several transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (5) lacks the first exon compared
            to variant 1 and has an alternate, downstream first exon instead.
            It also uses an alternate splice junction at the 3' end of an exon
            and has an alternate 3' terminal exon compared to variant 1. The
            resulting isoform (5) has shorter and distinct N and C-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.17008.1,
                                           SRR5189655.51846.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-943               BC023560.1         20-962
FEATURES             Location/Qualifiers
     source          1..943
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.32"
     gene            1..943
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /note="FERM domain containing 3"
                     /db_xref="GeneID:257019"
                     /db_xref="HGNC:HGNC:24125"
                     /db_xref="MIM:607619"
     exon            1..257
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..733
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /note="isoform 5 is encoded by transcript variant 5; band
                     4.1-like protein 4; FERM domain-containing protein 3;
                     protein 4.1O; ovary type protein 4.1; band 4.1-like
                     protein 4O"
                     /codon_start=1
                     /product="FERM domain-containing protein 3 isoform 5"
                     /protein_id="NP_001231891.1"
                     /db_xref="CCDS:CCDS59131.1"
                     /db_xref="GeneID:257019"
                     /db_xref="HGNC:HGNC:24125"
                     /db_xref="MIM:607619"
                     /translation="MQAEETKGIGITSMAKCLVKIQTRRSLQLHMVNHCNSNVFVRLL
                     RLGSKVTARNTGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISEL
                     VYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKE
                     ARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ"
     exon            258..719
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /inference="alignment:Splign:2.1.0"
     exon            720..943
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /inference="alignment:Splign:2.1.0"
     regulatory      922..927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /note="hexamer: AATAAA"
     polyA_site      943
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /note="major polyA site"
ORIGIN      
        1 gcattaggaa cctgacattt gattcattca gtgggtcctg cctaggtcct ttaaaacaga
       61 atggactgtt agggaaaggc tgccctgggc catgcaggcc gaggagacca aggggattgg
      121 aataaccagt atggcaaaat gcttggtcaa gatccagact cgacgaagcc tccaattgca
      181 catggtgaac cactgcaaca gtaatgtgtt tgttcgtctg ctgagactcg gctccaaggt
      241 cacagctcgt aacactggtg ttccattgcc taaagaggag aacatttctg ctcccttgat
      301 ctccagctcc ccagtgaagg cagcccggga gtatgaagat ccccctagtg aagaggaaga
      361 taaaataaaa gaagaacctt taaccatctc tgaactagtg tacaacccaa gtgccagcct
      421 gctccccacc cctgtggatg acgatgagat tgacatgctc tttgactgtc cttctaggct
      481 tgagttggaa agagaagaca cagattcatt tgaggatctg gaagcagatg aaaacgcctt
      541 tttgattgct gaagaagagg agctgaagga ggctcgccgt gctttgtcgt ggagctatga
      601 cattctgact ggccatattc gggtgaaccc actggtcaag agtttttcca ggctccttgt
      661 ggtgggcctg ggactgctgc tctttgtatt tcccctgctc ctcctccttt tggagtcagt
      721 ctccatgcag taaacagacc cagcagaacc tgcccgtggt gagctcagcc aagacttggc
      781 tctccatgtt ccagcctccg tctgtgactg ggtgggtaag ttcggtgggc cccacccagt
      841 gggctcggca gccgtcactt cacagaagaa gaaaggaacc ttgcttaggc ctcagatccc
      901 agctgtgctc tccaatccat taataaagct gcttttaacc ctc
//
