LOCUS       NM_031433               3949 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens membrane frizzled-related protein (MFRP), mRNA.
ACCESSION   NM_031433
VERSION     NM_031433.4
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 3949)
  AUTHORS   Tao,J., Luo,J., Li,K., Yang,R., Lin,Y. and Ge,J.
  TITLE     Comprehensive genetic analysis uncovers the mutational spectrum of
            MFRP and its genotype-phenotype correlation in a large cohort of
            Chinese microphthalmia patients
  JOURNAL   Gene 926, 148647 (2024)
   PUBMED   38848879
  REMARK    GeneRIF: Comprehensive genetic analysis uncovers the mutational
            spectrum of MFRP and its genotype-phenotype correlation in a large
            cohort of Chinese microphthalmia patients.
REFERENCE   2  (bases 1 to 3949)
  AUTHORS   Amaral,R.A.S., Zin,O.A., Moraes,R.T., Porto,F.B.O.,
            Carricondo,P.C., Pimentel,S.L.G., Kestelman,B.P., Watanabe,S.E.S.
            and Sallum,J.M.F.
  TITLE     Posterior microphthalmos with retinal involvement related to MFRP
            gene: a report of 10 Brazilian patients
  JOURNAL   Ophthalmic Genet 45 (4), 413-420 (2024)
   PUBMED   38557281
  REMARK    GeneRIF: Posterior microphthalmos with retinal involvement related
            to MFRP gene: a report of 10 Brazilian patients.
REFERENCE   3  (bases 1 to 3949)
  AUTHORS   Chiou,C.A., Rajabi,F., Fulton,A.B., Acsadi,G., Waitzman,D.M. and
            Gaier,E.D.
  TITLE     Membrane Frizzled-Related Protein-Related Disease Mimicking
            Idiopathic Intracranial Hypertension
  JOURNAL   J Neuroophthalmol 44 (1), e26-e28 (2024)
   PUBMED   36255095
  REMARK    GeneRIF: Membrane Frizzled-Related Protein-Related Disease
            Mimicking Idiopathic Intracranial Hypertension.
REFERENCE   4  (bases 1 to 3949)
  AUTHORS   Ota,J., Inooka,T., Okado,S., Maeda,N., Koyanagi,Y., Kominami,T.,
            Nishiguchi,K.M. and Ueno,S.
  TITLE     Pathogenic variants of MFRP and PRSS56 genes are major causes of
            nanophthalmos in Japanese patients
  JOURNAL   Ophthalmic Genet 44 (5), 423-429 (2023)
   PUBMED   37501562
  REMARK    GeneRIF: Pathogenic variants of MFRP and PRSS56 genes are major
            causes of nanophthalmos in Japanese patients.
REFERENCE   5  (bases 1 to 3949)
  AUTHORS   Yang,L., Yamasaki,K., Shirakata,Y., Dai,X., Tokumaru,S., Yahata,Y.,
            Tohyama,M., Hanakawa,Y., Sayama,K. and Hashimoto,K.
  TITLE     Bone morphogenetic protein-2 modulates Wnt and frizzled expression
            and enhances the canonical pathway of Wnt signaling in normal
            keratinocytes
  JOURNAL   J Dermatol Sci 42 (2), 111-119 (2006)
   PUBMED   16442268
REFERENCE   6  (bases 1 to 3949)
  AUTHORS   Pauer,G.J., Xi,Q., Zhang,K., Traboulsi,E.I. and Hagstrom,S.A.
  TITLE     Mutation screen of the membrane-type frizzled-related protein
            (MFRP) gene in patients with inherited retinal degenerations
  JOURNAL   Ophthalmic Genet 26 (4), 157-161 (2005)
   PUBMED   16352475
  REMARK    GeneRIF: Mutation of the membrane-type frizzled-related protein
            gene is associated with inherited retinal degenerations
REFERENCE   7  (bases 1 to 3949)
  AUTHORS   Ayyagari,R., Mandal,M.N., Karoukis,A.J., Chen,L., McLaren,N.C.,
            Lichter,M., Wong,D.T., Hitchcock,P.F., Caruso,R.C., Moroi,S.E.,
            Maumenee,I.H. and Sieving,P.A.
  TITLE     Late-onset macular degeneration and long anterior lens zonules
            result from a CTRP5 gene mutation
  JOURNAL   Invest Ophthalmol Vis Sci 46 (9), 3363-3371 (2005)
   PUBMED   16123441
REFERENCE   8  (bases 1 to 3949)
  AUTHORS   Sundin,O.H., Leppert,G.S., Silva,E.D., Yang,J.M., Dharmaraj,S.,
            Maumenee,I.H., Santos,L.C., Parsa,C.F., Traboulsi,E.I.,
            Broman,K.W., Dibernardo,C., Sunness,J.S., Toy,J. and Weinberg,E.M.
  TITLE     Extreme hyperopia is the result of null mutations in MFRP, which
            encodes a Frizzled-related protein
  JOURNAL   Proc Natl Acad Sci U S A 102 (27), 9553-9558 (2005)
   PUBMED   15976030
  REMARK    GeneRIF: Extreme hyperopia (Nanophthalmos) is the result of null
            mutations in MFRP.
REFERENCE   9  (bases 1 to 3949)
  AUTHORS   Hayward,C., Shu,X., Cideciyan,A.V., Lennon,A., Barran,P.,
            Zareparsi,S., Sawyer,L., Hendry,G., Dhillon,B., Milam,A.H.,
            Luthert,P.J., Swaroop,A., Hastie,N.D., Jacobson,S.G. and
            Wright,A.F.
  TITLE     Mutation in a short-chain collagen gene, CTRP5, results in
            extracellular deposit formation in late-onset retinal degeneration:
            a genetic model for age-related macular degeneration
  JOURNAL   Hum Mol Genet 12 (20), 2657-2667 (2003)
   PUBMED   12944416
  REMARK    GeneRIF: Describes the role of CTRP5 in disease, in addition to the
            bicistronic nature of CTRP5 and MFRP, which is confirmed by RT-PCR.
REFERENCE   10 (bases 1 to 3949)
  AUTHORS   Katoh,M.
  TITLE     Molecular cloning and characterization of MFRP, a novel gene
            encoding a membrane-type Frizzled-related protein
  JOURNAL   Biochem Biophys Res Commun 282 (1), 116-123 (2001)
   PUBMED   11263980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003396.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_031433.3.
            
            Summary: This gene encodes a member of the frizzled-related protein
            family. The encoded protein plays an important role in eye
            development and mutations in this gene have been associated with
            nanophthalmos, posterior microphthalmia, retinitis pigmentosa,
            foveoschisis, and optic disc drusen. The protein is encoded by a
            bicistronic transcript which also encodes C1q and tumor necrosis
            factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC036675.1, AJ862823.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            bicistronic transcript :: PMID: 12944416, 11263980
            MANE Ensembl match     :: ENST00000619721.6/ ENSP00000481824.1
            NMD candidate          :: PMID: 11263980
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-246               AP003396.1         12993-13238         c
            247-349             AP003396.1         12805-12907         c
            350-463             AP003396.1         12579-12692         c
            464-619             AP003396.1         12306-12461         c
            620-833             AP003396.1         11953-12166         c
            834-964             AP003396.1         11407-11537         c
            965-1090            AP003396.1         11165-11290         c
            1091-1167           AP003396.1         10848-10924         c
            1168-1316           AP003396.1         10349-10497         c
            1317-1447           AP003396.1         9406-9536           c
            1448-1579           AP003396.1         9129-9260           c
            1580-1707           AP003396.1         8390-8517           c
            1708-2785           AP003396.1         7228-8305           c
            2786-3042           AP003396.1         6717-6973           c
            3043-3949           AP003396.1         5475-6381           c
FEATURES             Location/Qualifiers
     source          1..3949
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..3949
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /note="membrane frizzled-related protein"
                     /db_xref="GeneID:83552"
                     /db_xref="HGNC:HGNC:18121"
                     /db_xref="MIM:606227"
     exon            1..246
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     CDS             193..1932
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /note="membrane-type frizzled-related protein; C1q and TNF
                     related 5"
                     /codon_start=1
                     /product="membrane frizzled-related protein"
                     /protein_id="NP_113621.1"
                     /db_xref="CCDS:CCDS8421.1"
                     /db_xref="GeneID:83552"
                     /db_xref="HGNC:HGNC:18121"
                     /db_xref="MIM:606227"
                     /translation="MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDAS
                     YSVPAPWHGRRPRGLRPDCRFSWLCVLLLSSLLLLLLGLLVAIILAQLQAAPPSGASH
                     SPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNY
                     PDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGR
                     VPPPTLNTNASHLLVVFVSDSSVEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPD
                     SVCDGFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVP
                     AGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHEL
                     AVLFRTDHGISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGS
                     DDNCSGPLFPPPELACEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLT
                     SLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPWPFNCNR
                     LPEAADLEACAQP"
     exon            247..349
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            350..463
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            464..619
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            620..833
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            834..964
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1090
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1167
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1316
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1447
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1448..1579
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..1707
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1708..2785
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            2786..3042
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     exon            3043..3949
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3931..3936
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /note="hexamer: AATAAA"
     polyA_site      3949
                     /gene="MFRP"
                     /gene_synonym="CTRP5; MCOP5; NNO2; RD6"
                     /note="major polyA site"
ORIGIN      
        1 acacagagac agagtagccc ataggccaaa ccactctacc aaggacagcc caagaactgg
       61 tctagcctgg cagccttttc cctcgggtag tagaggctgc ccctctgaca gggagtttgt
      121 ggtcagcgag tgggcccttg ggggtcttgg gctgtcacag ggactccaga aagccatgca
      181 gagccttgtg ccatgaagga cttctcagat gtcatcctct gcatggaggc aacagaatcg
      241 agcaagaccg agttctgcaa tcctgccttc gagcctgagt ctgggccacc ctgccctccc
      301 ccagttttcc cagaggatgc cagctacagc gtcccagctc cctggcatgg tcggcgtcct
      361 cgagggctac ggccagactg ccgcttctcc tggctctgtg tcctcctgct ctccagcctg
      421 ctcctcctgc tgcttgggct gctggtggcc atcatcctgg cccagctgca ggctgcaccc
      481 ccatctgggg cgtcccatag cccactgcct gccggaggcc ttaccacgac caccaccacc
      541 cccaccatca ccacctctca ggcagctggg acccctaaag ggcagcagga gtcaggcgtg
      601 agcccctccc cacagtccac ctgtggaggc ctcctctctg gcccaagggg cttcttcagc
      661 agccctaact acccagaccc ttaccccccc aacacccact gcgtgtggca tatccaggtg
      721 gccacagacc atgcaataca gctcaagatc gaagccctca gcatagagag tgtggcctct
      781 tgcctttttg atcgcttgga actctcccct gagcctgaag gccccctcct cagggtttgt
      841 ggaagggtgc ctccccccac gctcaacacc aatgccagcc acctcctggt ggtcttcgtc
      901 tctgacagca gtgtggaagg atttggtttc catgcctggt accaggctat ggcccctggg
      961 cgcgggagct gtgcccatga tgagttccgc tgtgaccagc tcatctgcct gctacctgac
     1021 tcagtgtgtg atggttttgc caactgtgct gacggcagtg atgagaccaa ttgcagtgcc
     1081 aagttctcgg ggtgtggggg gaatctgact ggcctccagg gcactttctc tactcccagc
     1141 tacctgcagc agtaccctca ccaactgctc tgcacctggc atatctcggt gcctgccgga
     1201 cacagcatag aactacagtt ccacaacttc agcctggagg ctcaggacga gtgcaagttt
     1261 gactacgtgg aggtgtatga gaccagcagc tcaggggcct tcagcctcct gggcaggttc
     1321 tgtggagcag agccaccccc ccacctcgtc tcctcgcacc atgagctggc tgtgctgttt
     1381 aggacagatc atggcatcag cagtggaggc ttctcagcca cctacctggc cttcaatgcc
     1441 acggagaacc cctgtgggcc cagtgagctc tcctgccagg caggagggtg taagggtgtg
     1501 cagtggatgt gtgacatgtg gagagactgc accgatggca gcgatgacaa ctgcagcggc
     1561 cccttgttcc cacccccaga gctggcctgt gagcctgtcc aggtggagat gtgcctcggt
     1621 ctgagctaca acaccacagc cttccctaac atctgggtgg gcatgatcac ccaggaggag
     1681 gtggtagagg tcctcagcgg ttacaagagc ctgacaagcc tgccctgcta ccagcatttc
     1741 cggaggctcc tgtgtgggct gcttgtgccc cgttgcaccc cactaggcag tgttctgccc
     1801 ccttgccgct ctgtctgcca ggaagcggag caccagtgcc agtctggcct ggcactactg
     1861 ggcaccccct ggcccttcaa ctgcaacagg ctgccagagg cagctgacct ggaagcttgt
     1921 gcccagccct gaccctgaag ccggcccctg ccctcttcct gcccgtcctc ttttgccggt
     1981 cagggctggc acgcagggga acaaaggaag gagcatcagc agggtctcta cccatccttc
     2041 tctggggctc ccagggaggg ggaagagaag tcctcagctg gggctcatgg gaccctacca
     2101 ccctccctgc tccttcctgt ccctttaccg gtcccaggct gctgactggc cccacactgt
     2161 gccaccggac aatcgagacc acttcccatc caggcctctt cccctttcca tctgcttttt
     2221 cagcttctcc atcgcctgcc ttctgacctt ttccttgatt caacaaaaat gtactgagca
     2281 tctattcatg tggcaggccc ctgtcctagg ccctagggat ccaactggct gtctgcctct
     2341 agaactctcc accctcatct ctctgcgtat ttctccctga aatggggtct ggtccttggt
     2401 ctctgccact gccctgcctc tcctctggcc ctgggaacag gaggtgccct gtgtgtccgt
     2461 ctctcgaagt tctgcctctc tgtgcccagc tcaagtctct ctccccctcc tttctccccc
     2521 taaactttgg ccggccgccg ggcgacacca cgagttattt cccagctatt tcccggtccg
     2581 ggagctcttg gcccctgaac aactggtttc ctcttggagt ctgggaggag gaaagcggag
     2641 ccggcaggga gcgaaccagg actggggtga cggcagggca gggggcgcct ggccggggag
     2701 aagcgcgggg gctggagcac caccaactgg agggtccgga gtagcgagcg ccccgaagga
     2761 ggccatcggg gagccgggag gggggactgc gagaggaccc cggcgtccgg gctcccggtg
     2821 ccagcgctat gaggccactc ctcgtcctgc tgctcctggg cctggcggcc ggctcgcccc
     2881 cactggacga caacaagatc cccagcctct gcccggggca ccccggcctt ccaggcacgc
     2941 cgggccacca tggcagccag ggcttgccgg gccgcgatgg ccgcgacggc cgcgacggcg
     3001 cgcccggggc tccgggagag aaaggcgagg gcgggaggcc gggactgccg ggacctcgag
     3061 gggaccccgg gccgcgagga gaggcgggac ccgcggggcc caccgggcct gccggggagt
     3121 gctcggtgcc tccgcgatcc gccttcagcg ccaagcgctc cgagagccgg gtgcctccgc
     3181 cgtctgacgc acccttgccc ttcgaccgcg tgctggtgaa cgagcaggga cattacgacg
     3241 ccgtcaccgg caagttcacc tgccaggtgc ctggggtcta ctacttcgcc gtccatgcca
     3301 ccgtctaccg ggccagcctg cagtttgatc tggtgaagaa tggcgaatcc attgcctctt
     3361 tcttccagtt tttcgggggg tggcccaagc cagcctcgct ctcggggggg gccatggtga
     3421 ggctggagcc tgaggaccaa gtgtgggtgc aggtgggtgt gggtgactac attggcatct
     3481 atgccagcat caagacagac agcaccttct ccggatttct ggtgtactcc gactggcaca
     3541 gctccccagt ctttgcttag tgcccactgc aaagtgagct catgctctca ctcctagaag
     3601 gagggtgtga ggctgacaac caggtcatcc aggagggctg gcccccctgg aatattgtga
     3661 atgactaggg aggtggggta gagcactctc cgtcctgctg ctggcaagga atgggaacag
     3721 tggctgtctg cgatcaggtc tggcagcatg gggcagtggc tggatttctg cccaagacca
     3781 gaggagtgtg ctgtgctggc aagtgtaagt cccccagttg ctctggtcca ggagcccacg
     3841 gtggggtgct ctcttcctgg tcctctgctt ctctggatcc tccccacccc ctcctgctcc
     3901 tggggccggc ccttttctca gagatcactc aataaaccta agaaccctc
//
