LOCUS       NM_001128636            3976 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens extracellular leucine rich repeat and fibronectin type
            III domain containing 1 (ELFN1), transcript variant 1, mRNA.
ACCESSION   NM_001128636 XM_001132524 XM_001717054 XM_001732882 XM_006715726
            XM_374386
VERSION     NM_001128636.4
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 3976)
  AUTHORS   Ayhan,S. and Dursun,A.
  TITLE     ELFN1 is a new extracellular matrix (ECM)-associated protein
  JOURNAL   Life Sci 352, 122900 (2024)
   PUBMED   38986898
  REMARK    GeneRIF: ELFN1 is a new extracellular matrix (ECM)-associated
            protein.
REFERENCE   2  (bases 1 to 3976)
  AUTHORS   Dursun,A., Yalnizoglu,D., Yilmaz,D.Y., Oguz,K.K., Gulbakan,B.,
            Kosukcu,C., Akar,H.T., Kahraman,A.B., Acar,N.V., Gunbey,C.,
            Yildiz,Y. and Ozgul,R.K.
  TITLE     Biallelic mutations in ELFN1 gene associated with developmental and
            epileptic encephalopathy and joint laxity
  JOURNAL   Eur J Med Genet 64 (11), 104340 (2021)
   PUBMED   34509675
  REMARK    GeneRIF: Biallelic mutations in ELFN1 gene associated with
            developmental and epileptic encephalopathy and joint laxity.
REFERENCE   3  (bases 1 to 3976)
  AUTHORS   Dunn,H.A., Patil,D.N., Cao,Y., Orlandi,C. and Martemyanov,K.A.
  TITLE     Synaptic adhesion protein ELFN1 is a selective allosteric modulator
            of group III metabotropic glutamate receptors in trans
  JOURNAL   Proc Natl Acad Sci U S A 115 (19), 5022-5027 (2018)
   PUBMED   29686062
  REMARK    GeneRIF: the binding specificity of ELFN1 and found it to be
            recruited selectively to all group III mGluRs (mGluR4, mGluR6,
            mGluR7, and mGluR8), but not other mGluR species.
REFERENCE   4  (bases 1 to 3976)
  AUTHORS   Tomioka,N.H., Yasuda,H., Miyamoto,H., Hatayama,M., Morimura,N.,
            Matsumoto,Y., Suzuki,T., Odagawa,M., Odaka,Y.S., Iwayama,Y., Won
            Um,J., Ko,J., Inoue,Y., Kaneko,S., Hirose,S., Yamada,K.,
            Yoshikawa,T., Yamakawa,K. and Aruga,J.
  TITLE     Elfn1 recruits presynaptic mGluR7 in trans and its loss results in
            seizures
  JOURNAL   Nat Commun 5, 4501 (2014)
   PUBMED   25047565
  REMARK    GeneRIF: Damaging missense mutations of ELFN1, that are clustered
            in the carboxy-terminal region required for mGluR7 recruitment, are
            found in patients with epilepsy and attention deficit hyperactivity
            disorder.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3976)
  AUTHORS   Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
            Nicolaescu,E., Lesage,B. and Bollen,M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   6  (bases 1 to 3976)
  AUTHORS   Dolan,J., Walshe,K., Alsbury,S., Hokamp,K., O'Keeffe,S.,
            Okafuji,T., Miller,S.F., Tear,G. and Mitchell,K.J.
  TITLE     The extracellular leucine-rich repeat superfamily; a comparative
            survey and analysis of evolutionary relationships and expression
            patterns
  JOURNAL   BMC Genomics 8, 320 (2007)
   PUBMED   17868438
  REMARK    Erratum:[BMC Genomics. 2009;10:230]
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074389.8.
            
            On Apr 8, 2021 this sequence version replaced NM_001128636.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1994538.1,
                                           SRR14038191.1676918.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000424383.5/ ENSP00000456548.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                AC074389.8         64612-64689
            79-171              AC074389.8         82393-82485
            172-333             AC074389.8         103426-103587
            334-3976            AC074389.8         138639-142281
FEATURES             Location/Qualifiers
     source          1..3976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..3976
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /note="extracellular leucine rich repeat and fibronectin
                     type III domain containing 1"
                     /db_xref="GeneID:392617"
                     /db_xref="HGNC:HGNC:33154"
                     /db_xref="MIM:614964"
     exon            1..78
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /inference="alignment:Splign:2.1.0"
     exon            79..171
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /inference="alignment:Splign:2.1.0"
     exon            172..333
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /inference="alignment:Splign:2.1.0"
     exon            334..3976
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /inference="alignment:Splign:2.1.0"
     CDS             627..3113
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /note="extracellular leucine-rich repeat and fibronectin
                     type III containing 1; extracellular leucine-rich repeat
                     and fibronectin type-III domain-containing protein 1;
                     protein phosphatase 1 regulatory subunit 28; protein
                     ELFN1"
                     /codon_start=1
                     /product="protein ELFN1 precursor"
                     /protein_id="NP_001122108.1"
                     /db_xref="CCDS:CCDS59046.1"
                     /db_xref="GeneID:392617"
                     /db_xref="HGNC:HGNC:33154"
                     /db_xref="MIM:614964"
                     /translation="MAGRGWGALWVCVAAATLLHAGGLARADCWLIEGDKGFVWLAIC
                     SQNQPPYEAIPQQINSTIVDLRLNENRIRSVQYASLSRFGNLTYLNLTKNEIGYIEDG
                     AFSGQFNLQVLQLGYNRLRNLTEGMLRGLGKLEYLYLQANLIEVVMASSFWECPNIVN
                     IDLSMNRIQQLNSGTFAGLAKLSVCELYSNPFYCSCELLGFLRWLAAFTNATQTYDRM
                     QCESPPVYSGYYLLGQGRRGHRSILSKLQSVCTEDSYAAEVVGPPRPASGRSQPGRSP
                     PPPPPPEPSDMPCADDECFSGDGTTPLVALPTLATQAEARPLIKVKQLTQNSATITVQ
                     LPSPFHRMYTLEHFNNSKASTVSRLTKAQEEIRLTNLFTLTNYTYCVVSTSAGLRHNH
                     TCLTICLPRLPSPPGPVPSPSTATHYIMTILGCLFGMVLVLGAVYYCLRRRRRQEEKH
                     KKAASAAAAGSLKKTIIELKYGPELEAPGLAPLSQGPLLGPEAVTRIPYLPAAGEVEQ
                     YKLVESADTPKASKGSYMEVRTGDPPERRDCELGRPGPDSQSSVAEISTIAKEVDKVN
                     QIINNCIDALKSESTSFQGVKSGPVSVAEPPLVLLSEPLAAKHGFLAPGYKDAFGHSL
                     QRHHSVEAAGPPRASTSSSGSVRSPRAFRAEAVGVHKAAAAEAKYIEKGSPAADAILT
                     VTPAAAVLRAEAEKGRQYGEHRHSYPGSHPAEPPAPPGPPPPPPHEGLGRKASILEPL
                     TRPRPRDLAYSQLSPQYHSLSYSSSPEYTCRASQSIWERFRLSRRRHKEEEEFMAAGH
                     ALRKKVQFAKDEDLHDILDYWKGVSAQHKS"
     polyA_site      3976
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /note="major polyA site"
ORIGIN      
        1 aatcccggga gcgaagttag agcttgaagg acggcggcgg ctgcgggcgc agccccggaa
       61 ccgaggccgg gcgggcagag acagagtctc cctgtgttgc ccagacgggt ctcaaattcc
      121 tggacttaag cgattctcct acgttggtct cccaaagtgc tgggattaca ggtgcagctg
      181 ccttggcgac catttgtcct acagtttgtc cggacccagg ctgtccttct gtgtgctgga
      241 atgaggcgaa catgtctttg agcccagcag ggaggaatcc tccagcctat tcctcgctgg
      301 tgcatcaggt cgttggcggg ccctgacaca caacaggaac gtcggagcag gaggagtcag
      361 tggagccatc aggacaccca ggcccatggg gcaggaggcc tcggtcacca caggactggg
      421 gcggaagacg agaggcggcc ggccgtgagg gaggcgccct ccctccccgc gcttacgtcg
      481 cgcggccatg cggtttggga caggacaccc ctgagagtgc aggcacctcc ccctcccgcc
      541 cctccatccc tctgggggct ggcgcctggc cccccacctg gtccccctgg gcaggctgaa
      601 ttggggctcc ctgcagggcg gtcccgatgg ccgggcgtgg gtggggcgcg ctgtgggtgt
      661 gcgtggcggc cgccaccctg ctgcacgctg gcggcctggc ccgcgcagac tgctggctga
      721 tcgagggcga caagggcttc gtgtggctgg ccatctgcag ccagaaccaa cccccctacg
      781 aggccatccc acagcagatc aacagcacca tcgtggacct gcggctcaac gagaaccgta
      841 tccgcagcgt gcagtacgcc tcgctcagcc gctttggcaa cctcacgtac ctcaacctca
      901 ccaagaacga gatcggctac atcgaggacg gcgccttctc gggccagttc aacctgcagg
      961 tgctgcagct gggctacaac cggctgcgca acctcacgga gggcatgctg cgcggcctgg
     1021 gcaagctgga gtacctgtac ctgcaggcca acctcatcga ggtggtcatg gccagcagct
     1081 tctgggagtg tcccaacatc gtcaacatcg acctgtccat gaaccgcatc cagcagctca
     1141 acagcggcac cttcgccggc ctggccaagc tgtcggtgtg cgagctctac agcaacccct
     1201 tctactgctc ctgcgagctg ctgggcttcc tgcgctggct ggccgccttc accaacgcca
     1261 cacagacgta cgaccgcatg cagtgcgagt cgccgcccgt ctactccggc tactacctcc
     1321 tgggccaggg ccgccgcggc caccgcagca tcctcagcaa actgcagtca gtctgcaccg
     1381 aggactcgta cgcggctgag gtggtcgggc ccccacgtcc agcatccggg cgctcacagc
     1441 cgggccgctc cccgccgccc ccgcctccgc cggagcccag tgacatgccc tgtgccgatg
     1501 atgagtgctt ctccggggac ggcaccacgc cactggtggc cctgcccacg ctggccacgc
     1561 aggccgaggc ccgccccctc atcaaggtca agcagctcac tcagaactcg gccaccatca
     1621 ccgtccagct gcccagcccg ttccaccgga tgtacaccct ggagcatttc aacaacagca
     1681 aggcctccac cgtgtccagg ctgaccaagg cccaggagga gatccgtctg accaacctgt
     1741 tcacgctcac caactacacc tactgcgtgg tgtccaccag cgccgggctg cgccacaacc
     1801 acacctgcct caccatctgc ttgccccggc tgcccagccc gcctggtccg gtgcccagcc
     1861 cctccacggc cacccactac atcatgacca tcctgggctg cctcttcggc atggtgctgg
     1921 tgctgggcgc cgtctactac tgcctgcgca ggcggcggcg ccaggaggag aagcacaaga
     1981 aggccgcctc ggcagccgca gctggcagcc tcaagaagac catcatcgag ctcaagtacg
     2041 ggccagagct ggaggcgccc ggcctggccc cgctgtccca gggcccgctg ctgggccccg
     2101 aggccgtgac gcgcatccct tacctgcctg cggccggcga ggtggagcag tacaagctgg
     2161 tggagagcgc ggacaccccc aaggccagca agggcagcta catggaggtt cgaaccgggg
     2221 accctccgga acgcagggac tgtgagctgg gccggccggg ccccgacagc cagagttcgg
     2281 tggccgagat ctccaccatc gccaaggagg tggacaaggt caaccagatc atcaacaact
     2341 gcatcgacgc gctcaagtcc gagtccacct ccttccaggg cgtcaagtcg gggcccgtgt
     2401 ccgtcgcgga gccgccgctg gtgctgctgt ccgagccgct ggccgccaag cacggcttcc
     2461 tggcgcccgg gtacaaggac gccttcggcc acagcctgca gcggcaccac agcgtggagg
     2521 ccgccgggcc ccctcgtgcc agcacctcgt ccagcggctc cgtgcgcagc ccccgcgcct
     2581 tccgagccga ggccgtcggg gtgcacaagg ccgcggccgc cgaggccaag tacatcgaga
     2641 agggctcccc cgcggccgac gccatcctca ctgtgacacc cgcggccgcc gtgctgcggg
     2701 ccgaggccga gaagggtcgc cagtacggcg agcaccggca ctcgtacccc ggctcccacc
     2761 cggccgagcc acctgcgccc cccgggccac cgccgccgcc tccgcacgag ggcctggggc
     2821 gcaaggcgtc catcctggag ccactcaccc ggccgcggcc ccgcgacctc gcctactcgc
     2881 agctgtcccc gcagtaccac agcctgagct actcctccag ccccgagtac acctgccggg
     2941 cctcccagag catctgggag cgcttcagac tgagccgccg gcggcacaag gaggaagagg
     3001 agttcatggc cgcgggccat gccctgcgca agaaggttca gttcgccaaa gacgaggatc
     3061 tgcacgacat cctggactac tggaagggcg tgtcggccca gcacaagtcc tgagcccccc
     3121 aagaccggcg atgcccactg gaccaaaaag gatgcaggat ccacccagag actcagcacc
     3181 aaacccaaca cacgcacgcc accacagcaa ctgtgacagc ggggggccct gcagaggcga
     3241 ggggggagcg agtggggaca gacaaggggg acacgtcccg agctcctgtg gccggtcctg
     3301 ggatgcgctt gtcgccccgg gtggcacgtg tccacacaca cacacacaca cacacacaca
     3361 cacacgaggg acttcggaaa actgtgtctt agggatgggg ggtgggggtg gggatttttt
     3421 tttcattatc tttcctcttt tgagtcttct ctgccttttc ttttcctctc tatctcttta
     3481 ctttcttcct tttttaaaaa aatataataa aagacaagtt attttaaaaa gacataaaat
     3541 gccatccgtg gggggtgtgg ccggcgtggc cacctcgggg cccctcacgt gatctcctcg
     3601 gtccgtggtt ttctgtggat tctctgtcca gtccgtctct tcattgccgc ctccggagtc
     3661 cactgcagag gggcagagtg aatgccggcg gccaagtggc ctccgggaca ggtcctggag
     3721 ccctgctgga ctcagggtgg gtggaggctg tgcctgtgga cggccggggt ggccaggacg
     3781 gccaagggct gggaggcacg tcccccagcc cagcccccat gtacactgta gtcgttctat
     3841 tgtacagaaa aaaatatttc tatatttgca atgtttgctg taaaatgaga aagaaaaaaa
     3901 gactatgtct actaaaaaaa aaaaaaaaaa gactatgtct acttaaaaaa aaatctgcaa
     3961 aggaaaacaa atcaaa
//
