LOCUS       NM_001177704            3379 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FRAS1 related extracellular matrix 1 (FREM1),
            transcript variant 2, mRNA.
ACCESSION   NM_001177704
VERSION     NM_001177704.3
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 3379)
  AUTHORS   Chen,X., Yu,B., Wang,Z., Li,Q., Dai,C. and Wei,J.
  TITLE     Two novel mutations within FREM1 gene in patients with bifid nose
  JOURNAL   BMC Pediatr 23 (1), 631 (2023)
   PUBMED   38097983
  REMARK    GeneRIF: Two novel mutations within FREM1 gene in patients with
            bifid nose.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3379)
  AUTHORS   Kashem,M.A., Lischynski,J., Stojak,B., Li,L., Yuan,X.Y., Liang,B.,
            Kimani,J., Plummer,F.A. and Luo,M.
  TITLE     High level of plasma TILRR protein is associated with faster HIV
            seroconversion
  JOURNAL   EBioMedicine 78, 103955 (2022)
   PUBMED   35339895
  REMARK    GeneRIF: High level of plasma TILRR protein is associated with
            faster HIV seroconversion.
REFERENCE   3  (bases 1 to 3379)
  AUTHORS   Dawson,A.J., Hovanes,K., Liu,J., Marles,S., Greenberg,C.,
            Mhanni,A., Chudley,A., Frosk,P., Sahoo,T., Schanze,D. and Zenker,M.
  TITLE     Heterozygous intragenic deletions of FREM1 are not associated with
            trigonocephaly
  JOURNAL   Clin Dysmorphol 30 (2), 83-88 (2021)
   PUBMED   33038106
  REMARK    GeneRIF: Heterozygous intragenic deletions of FREM1 are not
            associated with trigonocephaly.
REFERENCE   4  (bases 1 to 3379)
  AUTHORS   Li,H.N., Li,X.R., Lv,Z.T., Cai,M.M., Wang,G. and Yang,Z.F.
  TITLE     Elevated expression of FREM1 in breast cancer indicates favorable
            prognosis and high-level immune infiltration status
  JOURNAL   Cancer Med 9 (24), 9554-9570 (2020)
   PUBMED   33058542
  REMARK    GeneRIF: Elevated expression of FREM1 in breast cancer indicates
            favorable prognosis and high-level immune infiltration status.
REFERENCE   5  (bases 1 to 3379)
  AUTHORS   Brischoux-Boucher,E., Dahlen,E., Gronier,C., Nobili,F., Marcoux,E.,
            Alkuraya,F.S. and Van Maldergem,L.
  TITLE     Bifid nose as the sole manifestation of BNAR syndrome, a
            FREM1-related condition
  JOURNAL   Clin Genet 98 (5), 515-516 (2020)
   PUBMED   32926405
  REMARK    GeneRIF: Bifid nose as the sole manifestation of BNAR syndrome, a
            FREM1-related condition.
REFERENCE   6  (bases 1 to 3379)
  AUTHORS   Zhang,X., Shephard,F., Kim,H.B., Palmer,I.R., McHarg,S.,
            Fowler,G.J., O'Neill,L.A., Kiss-Toth,E. and Qwarnstrom,E.E.
  TITLE     TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to
            control Ras-dependent amplification of NF-kappaB
  JOURNAL   J Biol Chem 285 (10), 7222-7232 (2010)
   PUBMED   19940113
  REMARK    GeneRIF: TILRR, an isoform encoded by an alternatively spliced
            FREM1 mRNA, is an IL-1RI co-receptor that associates with the
            signaling receptor complex to enhance recruitment of MyD88 and
            control Ras-dependent amplification of NF-kappaB and inflammatory
            responses.
            Erratum:[J Biol Chem. 2010 Jun 4;285(23):18122]
REFERENCE   7  (bases 1 to 3379)
  AUTHORS   Alazami,A.M., Shaheen,R., Alzahrani,F., Snape,K., Saggar,A.,
            Brinkmann,B., Bavi,P., Al-Gazali,L.I. and Alkuraya,F.S.
  TITLE     FREM1 mutations cause bifid nose, renal agenesis, and anorectal
            malformations syndrome
  JOURNAL   Am J Hum Genet 85 (3), 414-418 (2009)
   PUBMED   19732862
  REMARK    GeneRIF: The phenotypic variability reported for different Frem1
            mouse mutants suggests that the apparently distinct phenotype of
            bifid nose and anorectal and renal anomalies syndrome in humans may
            represent a previously unrecognized variant of Fraser syndrome.
            Erratum:[Am J Hum Genet. 2009 Nov;85(5):756]
REFERENCE   8  (bases 1 to 3379)
  AUTHORS   Kiyozumi,D., Osada,A., Sugimoto,N., Weber,C.N., Ono,Y., Imai,T.,
            Okada,A. and Sekiguchi,K.
  TITLE     Identification of a novel cell-adhesive protein spatiotemporally
            expressed in the basement membrane of mouse developing hair
            follicle
  JOURNAL   Exp Cell Res 306 (1), 9-23 (2005)
   PUBMED   15878328
REFERENCE   9  (bases 1 to 3379)
  AUTHORS   Smyth,I., Du,X., Taylor,M.S., Justice,M.J., Beutler,B. and
            Jackson,I.J.
  TITLE     The extracellular matrix gene Frem1 is essential for the normal
            adhesion of the embryonic epidermis
  JOURNAL   Proc Natl Acad Sci U S A 101 (37), 13560-13565 (2004)
   PUBMED   15345741
REFERENCE   10 (bases 1 to 3379)
  AUTHORS   Li,C. and Slavotinek,A.
  TITLE     FREM1 Autosomal Recessive Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL512643.9 and AL390732.10.
            
            On Apr 9, 2020 this sequence version replaced NM_001177704.2.
            
            Summary: This gene encodes a basement membrane protein that may
            play a role in craniofacial and renal development. Mutations in
            this gene have been associated with bifid nose with or without
            anorectal and renal anomalies. Alternatively spliced transcript
            variants encoding different isoforms have been described. PubMed ID
            19940113 describes one such variant that initiates transcription
            within a distinct, internal exon; the resulting shorter isoform
            (named Toll-like/interleukin-1 receptor regulator, TILRR) is
            suggested to be a co-receptor of the interleukin 1 receptor family
            and may regulate receptor function and Toll-like
            receptor/interleukin 1 receptor signal transduction, contributing
            to the control of inflammatory response activation. [provided by
            RefSeq, Apr 2011].
            
            Sequence Note:.
            
            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 :: BC031064.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-984               AL512643.9         41544-42527         c
            985-1452            AL512643.9         37885-38352         c
            1453-1654           AL512643.9         32701-32902         c
            1655-1799           AL512643.9         31820-31964         c
            1800-1929           AL512643.9         21868-21997         c
            1930-2002           AL512643.9         18470-18542         c
            2003-2152           AL512643.9         12223-12372         c
            2153-2391           AL512643.9         10497-10735         c
            2392-2439           AL512643.9         9777-9824           c
            2440-2604           AL512643.9         9360-9524           c
            2605-2733           AL512643.9         9019-9147           c
            2734-2849           AL512643.9         8449-8564           c
            2850-2935           AL512643.9         2245-2330           c
            2936-3379           AL390732.10        140494-140937       c
FEATURES             Location/Qualifiers
     source          1..3379
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.3"
     gene            1..3379
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /note="FRAS1 related extracellular matrix 1"
                     /db_xref="GeneID:158326"
                     /db_xref="HGNC:HGNC:23399"
                     /db_xref="MIM:608944"
     exon            1..984
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1452
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     CDS             988..3135
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     FRAS1-related extracellular matrix protein 1;
                     extracellular matrix protein QBRICK"
                     /codon_start=1
                     /product="FRAS1-related extracellular matrix protein 1
                     isoform 2"
                     /protein_id="NP_001171175.1"
                     /db_xref="CCDS:CCDS55293.1"
                     /db_xref="GeneID:158326"
                     /db_xref="HGNC:HGNC:23399"
                     /db_xref="MIM:608944"
                     /translation="MVTQESMLKAALPLFTRFIISNGLRTEHGVFEITLETVDRALPV
                     VTRNKGLRLAQGAVGLLSPDLLQLTDPDTPAENLTFLLVQLPQHGQLYLWGTGLLQHN
                     FTQQDVDSKNVAYRHSGGDSQTDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQVDQLD
                     KTAPRITLLHSPSQVGLLKNGCYGIYITSRVLKASDPDTEDDQIIFKILQGPKHGHLE
                     NTTTGEFIHEKFSQKDLNSKTILYIINPSLEVNSDTVEFQIMDPTGNSATPQILELKW
                     SHIEWSQTEYEVCENVGLLPLEIIRRGYSMDSAFVGIKVNQVSAAVGKDFTVIPSKLI
                     QFDPGMSTKMWNIAITYDGLEEDDEVFEVILNSPVNAVLGTKTKAAVKILDSKGGQCH
                     PSYSSNQSKHSTWEKGIWHLLPPGSSSSTTSGSFHLERRPLPSSMQLAVIRGDTLRGF
                     DSTDLSQRKLRTRGNGKTVRPSSVYRNGTDIIYNYHGIVSLKLEDDSFPTHKRKAKVS
                     IISQPQKTIKVAELPQADKVESTTDSHFPRQDQLPSFPKNCTLELKGLFHFEEGIQKL
                     YQCNGIAWKAWSPQTKDVEDKSCPAGWHQHSGYCHILITEQKGTWNAAAQACREQYLG
                     NLVTVFSRQHMRWLWDIGGRKSFWIGLNDQVHAGHWEWIGGEPVAFTNGRRGPSQRSK
                     LGKSCVLVQRQGKWQTKDCRRAKPHNYVCSRKL"
     exon            1453..1654
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1799
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1929
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1930..2002
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2152
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2153..2391
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2392..2439
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2440..2604
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2605..2733
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2734..2849
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2850..2935
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2936..3379
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3302..3307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /note="hexamer: AATAAA"
     polyA_site      3324
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
     regulatory      3356..3361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /note="hexamer: AATAAA"
     polyA_site      3379
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /note="major polyA site"
ORIGIN      
        1 gaggagctgg cgctatttat gattccattt ttatctctta aatgccatga cagatggcag
       61 cttcttcagc caactctatt gccaggcaat gcagaaagct tgaaagcacc gtggtaatgg
      121 tgaaatcaga ccaggcaggc accccagtca aatctgagag ttattcccca aatttcatga
      181 gagcggtggt catcttggct gcatctcttc tcagggggat gtaacaaggg aaattaaaca
      241 aaatggatcc acagaaggag ctgctaccac caacttcttc acctcagaat ggataccaac
      301 atagcaatgg ctttatggtt ttaaacattg agaatgtatt tggaggattt aggggagggg
      361 gtatttggaa gaccatctga ttgatcagct tttccagaca tgaacagcac tgaccttttt
      421 tcacgtgtac tgctagcttt attttgactg ggaactcaac cgtaaccatt cattctgtcc
      481 ctctctctga tgatgtctct ctgcctgtga gtagtttgca ctgttacttg tgaaagtgga
      541 atgatgttat ttgatccagt catgtttaga aattgcatca ttttcacccc tggcctatta
      601 gctttaggtc agcactgaca gctgccttgg tgtcccagat aggagcgctg gcctcagaaa
      661 acatatttct tactcttctg tggtctgtgg cccgcgtgcc ctcactccca tctgtctgat
      721 ggcaggctgc ctgtttccaa cgtgggcaga tcacgatctt ccagcaggga ggggtttgag
      781 atggacagcc tggatcataa gacaactgcg gtgacctcac agaggccatg cacgcatcga
      841 gtagatgtgg ccgtcctgag atgagctttg aggaccccgt caggcattct tgcaattcag
      901 tctgcaggga ggaaagtcag aattagatat tcaagatggc cgcctctgat ggagtccctg
      961 gcactcactc aagcttgcat ttggtagatg gtgacacaag aatccatgct gaaggctgcc
     1021 ttgcctctct ttaccagatt catcatcagc aatggactgc ggaccgagca cggggtgttt
     1081 gagatcacac tggagactgt ggacagagcc ctgcctgtgg taaccaggaa caaggggttg
     1141 agactggccc aaggggccgt gggcctgctt tcccctgacc tccttcagct gaccgaccct
     1201 gatacacctg cggagaacct caccttcctc ttggttcagc tcccccagca tggccagctc
     1261 tacctgtggg ggacagggct acttcaacac aatttcaccc agcaggatgt ggacagcaag
     1321 aatgtggcct atcggcactc aggaggggac tcccagactg actgctttac tttcatggcc
     1381 acagatggga caaaccaagg ctttattgtg aatgggagag tgtgggaaga acctgtttta
     1441 ttcaccattc aggtagacca attggacaaa acagctcctc gtatcacact cttgcattcc
     1501 ccttctcaag tggggctcct gaaaaatggc tgctacggga tttacatcac ttcccgcgtg
     1561 ttgaaggcat cagaccctga cactgaggac gatcagatca tctttaaaat tctacaaggc
     1621 ccaaaacatg gacatctgga gaacacaaca acaggtgaat ttatccatga gaaatttagc
     1681 caaaaggact taaacagtaa gactattctt tacatcataa acccatcttt ggaagtaaat
     1741 tcagataccg tggaatttca aatcatggac cccacaggga actcggccac tcctcaaatt
     1801 ttggaactga agtggtctca tattgaatgg tcacagaccg aatatgaagt ctgtgagaat
     1861 gtgggtttgt tgcccttgga aattatcaga aggggatatt ccatggactc ggcctttgtg
     1921 ggtataaagg tcaaccaagt gtcagctgca gttggaaaag atttcaccgt gattccatct
     1981 aaactgattc agtttgaccc aggaatgtca actaagatgt ggaatatagc aattacctat
     2041 gacggattag aggaagatga tgaggtcttt gaagtaattc tgaactcccc tgtgaatgca
     2101 gttcttggca caaagacaaa agctgcagtg aaaattttgg actcaaaagg aggacaatgc
     2161 catccttcat attcctccaa ccaaagcaag cacagcacat gggagaaggg catttggcat
     2221 ctgctgcccc cagggtcttc ctcatccacc acttctggtt cctttcatct ggaaagaaga
     2281 cctcttccat cttccatgca gctagcagtc atcaggggag acaccctgcg gggctttgat
     2341 tctacagatc tttctcaaag gaagcttagg acccgtggga atggcaaaac agttcgtcca
     2401 tcctctgttt atagaaatgg aacagacatc atctataatt atcatgggat agtttccttg
     2461 aaactggagg atgacagttt cccaactcac aaaaggaagg ccaaagtatc catcattagt
     2521 cagccacaaa agacaatcaa agtggcagaa ctgcctcaag cagataaggt ggaatccaca
     2581 actgactcac acttccccag acaggaccag ttgccctcat ttccaaagaa ctgcactctg
     2641 gaattaaagg gactcttcca ttttgaagaa ggcatccaga agctgtatca gtgcaatggg
     2701 atcgcctgga aagcctggag tccccaaacc aaggatgtgg aagacaaatc ctgtccagcc
     2761 gggtggcacc agcactcagg ctactgtcac atcttgatca cagagcagaa aggcacctgg
     2821 aatgcggctg cccaagcttg cagggaacaa tacctgggca accttgtaac tgtattctcc
     2881 aggcagcaca tgcggtggct ctgggacatt ggtgggagaa agtccttttg gataggtttg
     2941 aacgaccaag tgcatgctgg ccactgggag tggatcggtg gtgaacctgt tgccttcacc
     3001 aatgggagaa gagggccctc tcaacgctcc aagcttggaa agagctgtgt tttggttcaa
     3061 agacaaggga aatggcaaac aaaagactgt aggagagcca aacctcataa ttatgtgtgt
     3121 tccagaaaac tctaaatata acagacccta cagggggcca cctggagttt gtcacctatt
     3181 tattcacagg atctgtgaat attgctccat agaaaacaaa ttgttatgat tgagtgggta
     3241 tacctttgtg attctgtcta gtgaaaatgg gacattttta atagtgccag aaagattgat
     3301 aaataaatat tttttacaag ataagataca atttttgtat ctcaatacct tttaaaataa
     3361 atgccagcag tattataaa
//
