LOCUS       NM_001039348            2708 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens EGF containing fibulin extracellular matrix protein 1
            (EFEMP1), transcript variant 2, mRNA.
ACCESSION   NM_001039348
VERSION     NM_001039348.3
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 2708)
  AUTHORS   Ichimata,S., Hata,Y., Yoshida,K. and Nishida,N.
  TITLE     Clinicopathological Appearance of Epidermal
            Growth-Factor-Containing Fibulin-like Extracellular Matrix Protein
            1 Deposition in the Lower Gastrointestinal Tract: An Autopsy-Based
            Study
  JOURNAL   Int J Mol Sci 25 (14), 7581 (2024)
   PUBMED   39062824
  REMARK    GeneRIF: Clinicopathological Appearance of Epidermal
            Growth-Factor-Containing Fibulin-like Extracellular Matrix Protein
            1 Deposition in the Lower Gastrointestinal Tract: An Autopsy-Based
            Study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2708)
  AUTHORS   Mehra,R., Patra,V., Dhillan,R., Sharma,A., Kashyap,S., Rastogi,G.,
            Gupta,L., Singh,R., Chopra,C. and Sharma,V.
  TITLE     Replication study identified EFEMP1 association with varicose vein
            predisposition among Indians
  JOURNAL   Eur J Med Res 29 (1), 232 (2024)
   PUBMED   38609985
  REMARK    GeneRIF: Replication study identified EFEMP1 association with
            varicose vein predisposition among Indians.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2708)
  AUTHORS   Tan,J., Cai,S., Luo,X., Li,Q., Chen,Y., Chen,Z., Mao,Y., Liu,G.,
            Yang,M. and Liu,X.
  TITLE     Stop codon variant in EFEMP1 is associated with primary open-angle
            glaucoma due to impaired regulation of aqueous humor outflow
  JOURNAL   Exp Eye Res 241, 109859 (2024)
   PUBMED   38467175
  REMARK    GeneRIF: Stop codon variant in EFEMP1 is associated with primary
            open-angle glaucoma due to impaired regulation of aqueous humor
            outflow.
REFERENCE   4  (bases 1 to 2708)
  AUTHORS   Blackburn,J., Tarttelin,E.E., Gregory-Evans,C.Y., Moosajee,M. and
            Gregory-Evans,K.
  TITLE     Transcriptional regulation and expression of the dominant drusen
            gene FBLN3 (EFEMP1) in mammalian retina
  JOURNAL   Invest Ophthalmol Vis Sci 44 (11), 4613-4621 (2003)
   PUBMED   14578376
  REMARK    GeneRIF: The 5' end of the FBLN3 gene has been characterized, and
            the important upstream motifs regulating its transcription have
            been identified.
REFERENCE   5  (bases 1 to 2708)
  AUTHORS   Marmorstein,L.Y., Munier,F.L., Arsenijevic,Y., Schorderet,D.F.,
            McLaughlin,P.J., Chung,D., Traboulsi,E. and Marmorstein,A.D.
  TITLE     Aberrant accumulation of EFEMP1 underlies drusen formation in
            Malattia Leventinese and age-related macular degeneration
  JOURNAL   Proc Natl Acad Sci U S A 99 (20), 13067-13072 (2002)
   PUBMED   12242346
  REMARK    GeneRIF: EFEMP1 has a role in retinal drusen formation and is
            involved in the etiology of macular degeneration and Malattia
            Leventinese.
REFERENCE   6  (bases 1 to 2708)
  AUTHORS   Giltay,R., Timpl,R. and Kostka,G.
  TITLE     Sequence, recombinant expression and tissue localization of two
            novel extracellular matrix proteins, fibulin-3 and fibulin-4
  JOURNAL   Matrix Biol 18 (5), 469-480 (1999)
   PUBMED   10601734
REFERENCE   7  (bases 1 to 2708)
  AUTHORS   Stone,E.M., Lotery,A.J., Munier,F.L., Heon,E., Piguet,B.,
            Guymer,R.H., Vandenburgh,K., Cousin,P., Nishimura,D.,
            Swiderski,R.E., Silvestri,G., Mackey,D.A., Hageman,G.S., Bird,A.C.,
            Sheffield,V.C. and Schorderet,D.F.
  TITLE     A single EFEMP1 mutation associated with both Malattia Leventinese
            and Doyne honeycomb retinal dystrophy
  JOURNAL   Nat Genet 22 (2), 199-202 (1999)
   PUBMED   10369267
REFERENCE   8  (bases 1 to 2708)
  AUTHORS   Ikegawa,S., Toda,T., Okui,K. and Nakamura,Y.
  TITLE     Structure and chromosomal assignment of the human S1-5 gene (FBNL)
            that is highly homologous to fibrillin
  JOURNAL   Genomics 35 (3), 590-592 (1996)
   PUBMED   8812496
REFERENCE   9  (bases 1 to 2708)
  AUTHORS   Heon,E., Piguet,B., Munier,F., Sneed,S.R., Morgan,C.M., Forni,S.,
            Pescia,G., Schorderet,D., Taylor,C.M., Streb,L.M., Wiles,C.D.,
            Nishimura,D.Y., Sheffield,V.C. and Stone,E.M.
  TITLE     Linkage of autosomal dominant radial drusen (malattia leventinese)
            to chromosome 2p16-21
  JOURNAL   Arch Ophthalmol 114 (2), 193-198 (1996)
   PUBMED   8573024
REFERENCE   10 (bases 1 to 2708)
  AUTHORS   Lecka-Czernik,B., Lumpkin,C.K. Jr. and Goldstein,S.
  TITLE     An overexpressed gene transcript in senescent and quiescent human
            fibroblasts encoding a novel protein in the epidermal growth
            factor-like repeat family stimulates DNA synthesis
  JOURNAL   Mol Cell Biol 15 (1), 120-128 (1995)
   PUBMED   7799918
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312639.1, AK290599.1,
            AC010895.8 and U03877.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001039348.2.
            
            Summary: This gene encodes a member of the fibulin family of
            extracellular matrix glycoproteins. Like all members of this
            family, the encoded protein contains tandemly repeated epidermal
            growth factor-like repeats followed by a C-terminus fibulin-type
            domain. This gene is upregulated in malignant gliomas and may play
            a role in the aggressive nature of these tumors. Mutations in this
            gene are associated with Doyne honeycomb retinal dystrophy.
            Alternatively spliced transcript variants that encode the same
            protein have been described.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (2) represents the longer
            transcript. Variants 2 and 3 encode the same protein.
            
            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 :: AK312639.1, BC098561.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:12242346)
            MANE Ensembl match               :: ENST00000355426.8/
                                                ENSP00000347596.3
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1371              AK312639.1         1-1371
            1372-1815           AK290599.1         1377-1820
            1816-2678           AC010895.8         150408-151270       c
            2679-2708           U03877.1           2475-2504
FEATURES             Location/Qualifiers
     source          1..2708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     gene            1..2708
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="EGF containing fibulin extracellular matrix protein
                     1"
                     /db_xref="GeneID:2202"
                     /db_xref="HGNC:HGNC:3218"
                     /db_xref="MIM:601548"
     exon            1..72
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            73..113
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            114..201
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1602
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="fibulin-3; extracellular protein S1-5; EGF
                     containing fibulin like extracellular matrix protein 1;
                     glaucoma 1, open angle, H (adult-onset)"
                     /codon_start=1
                     /product="EGF-containing fibulin-like extracellular matrix
                     protein 1 precursor"
                     /protein_id="NP_001034437.1"
                     /db_xref="CCDS:CCDS1857.1"
                     /db_xref="GeneID:2202"
                     /db_xref="HGNC:HGNC:3218"
                     /db_xref="MIM:601548"
                     /translation="MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKD
                     IDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVV
                     AASSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCA
                     AGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDEC
                     TIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFI
                     CQCNQGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQD
                     INECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQS
                     IVYKYMSIRSDRSVPSDIFQIQATTIYANTINTFRIKSGNENGEFYLRQTSPVSAMLV
                     LVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF"
     exon            202..250
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            251..637
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            638..760
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            761..880
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1000
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1120
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1244
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1440
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..2708
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2043..2048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="hexamer: AATAAA"
     polyA_site      2071
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="major polyA site"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="hexamer: AATAAA"
     polyA_site      2160
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
     regulatory      2679..2684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="hexamer: AATAAA"
     regulatory      2685..2690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
                     /note="hexamer: AATAAA"
     polyA_site      2700
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
     polyA_site      2708
                     /gene="EFEMP1"
                     /gene_synonym="ARCL1D; DHRD; DRAD; FBLN3; FBNL; FIBL-3;
                     GLC1H; MLVT; MTLV; S1-5"
ORIGIN      
        1 agacccacgg ggctgccctc ccctgcgcac tcccctcgct gcccgggccc ggagcgcagc
       61 gcggccgcac aggtattttt gctgtgctgt gcaaggaact ctgctagctc aagattcaca
      121 atgttgaaag cccttttcct aactatgctg actctggcgc tggtcaagtc acaggacacc
      181 gaagaaacca tcacgtacac gcaatgcact gacggatatg agtgggatcc tgtgagacag
      241 caatgcaaag atattgatga atgtgacatt gtcccagacg cttgtaaagg tggaatgaag
      301 tgtgtcaacc actatggagg atacctctgc cttccgaaaa cagcccagat tattgtcaat
      361 aatgaacagc ctcagcagga aacacaacca gcagaaggaa cctcaggggc aaccaccggg
      421 gttgtagctg ccagcagcat ggcaaccagt ggagtgttgc ccgggggtgg ttttgtggcc
      481 agtgctgctg cagtcgcagg ccctgaaatg cagactggcc gaaataactt tgtcatccgg
      541 cggaacccag ctgaccctca gcgcattccc tccaaccctt cccaccgtat ccagtgtgca
      601 gcaggctacg agcaaagtga acacaacgtg tgccaagaca tagacgagtg cactgcaggg
      661 acgcacaact gtagagcaga ccaagtgtgc atcaatttac ggggatcctt tgcatgtcag
      721 tgccctcctg gatatcagaa gcgaggggag cagtgcgtag acatagatga atgtaccatc
      781 cctccatatt gccaccaaag atgcgtgaat acaccaggct cattttattg ccagtgcagt
      841 cctgggtttc aattggcagc aaacaactat acctgcgtag atataaatga atgtgatgcc
      901 agcaatcaat gtgctcagca gtgctacaac attcttggtt cattcatctg tcagtgcaat
      961 caaggatatg agctaagcag tgacaggctc aactgtgaag acattgatga atgcagaacc
     1021 tcaagctacc tgtgtcaata tcaatgtgtc aatgaacctg ggaaattctc atgtatgtgc
     1081 ccccagggat accaagtggt gagaagtaga acatgtcaag atataaatga gtgtgagacc
     1141 acaaatgaat gccgggagga tgaaatgtgt tggaattatc atggcggctt ccgttgttat
     1201 ccacgaaatc cttgtcaaga tccctacatt ctaacaccag agaaccgatg tgtttgccca
     1261 gtctcaaatg ccatgtgccg agaactgccc cagtcaatag tctacaaata catgagcatc
     1321 cgatctgata ggtctgtgcc atcagacatc ttccagatac aggccacaac tatttatgcc
     1381 aacaccatca atacttttcg gattaaatct ggaaatgaaa atggagagtt ctacctacga
     1441 caaacaagtc ctgtaagtgc aatgcttgtg ctcgtgaagt cattatcagg accaagagaa
     1501 catatcgtgg acctggagat gctgacagtc agcagtatag ggaccttccg cacaagctct
     1561 gtgttaagat tgacaataat agtggggcca ttttcatttt agtcttttct aagagtcaac
     1621 cacaggcatt taagtcagcc aaagaatatt gttaccttaa agcactattt tatttataga
     1681 tatatctagt gcatctacat ctctatactg tacactcacc cataattcaa acaattacac
     1741 catggtataa agtgggcatt taatatgtaa agattcaaag tttgtcttta ttactatatg
     1801 taaattagac attaatccac taaactggtc ttcttcaaga gagctaagta tacactatct
     1861 ggtgaaactt ggattctttc ctataaaagt gggaccaagc aatgatgatc ttctgtggtg
     1921 cttaaggaaa cttactagag ctccactaac agtctcataa ggaggcagcc atcataacca
     1981 ttgaatagca tgcaagggta agaatgagtt tttaactgct ttgtaagaaa atggaaaagg
     2041 tcaataaaga tatatttctt tagaaaatgg ggatctgcca tatttgtgtt ggtttttatt
     2101 ttcatatcca gcctaaaggt ggttgtttat tatatagtaa taaatcattg ctgtacaata
     2161 tgctggtttc tgtagggtat ttttaatttt gtcagaaatt ttagattgtg aatattttgt
     2221 aaaaaacagt aagcaaaatt ttccagaatt cccaaaatga accagatatc ccctagaaaa
     2281 ttatactatt gagaaatcta tggggaggat atgagaaaat aaattccttc taaaccacat
     2341 tggaactgac ctgaagaagc aaactcggaa aatataataa catccctgaa ttcaggactt
     2401 ccacaagatg cagaacaaaa tggataaaag gtatttcact ggagaagttt taatttctaa
     2461 gtaaaattta aatcctaaca cttcactaat ttataactaa aatttctcat cttcgtactt
     2521 gatgctcaca gaggaagaaa atgatgatgg tttttattcc tggcatccag agtgacagtg
     2581 aacttaagca aattaccctc ctacccaatt ctatggaata ttttatacgt ctccttgttt
     2641 aaaatgtcac tgctttactt tgatgtatca tatttttaaa taaaaataaa tattccttta
     2701 gaagatca
//
