LOCUS       NM_018079               3667 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.
ACCESSION   NM_018079
VERSION     NM_018079.5
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 3667)
  AUTHORS   Jung,S.H., Lee,Y.C., Lee,M.Y. and Shin,H.Y.
  TITLE     Lack of correlation between S1 RNA binding domain 1 SNP
            rs3213787/rs11884064 and normal-tension glaucoma in a population
            from the Republic of Korea
  JOURNAL   Medicine (Baltimore) 99 (25), e20066 (2020)
   PUBMED   32569157
  REMARK    GeneRIF: rs3213787 and rs11884064 not associated with genetic
            susceptibility to normal-tension glaucoma in a Korean cohort
REFERENCE   2  (bases 1 to 3667)
  AUTHORS   Kanemaki,N., Tchedre,K.T., Imayasu,M., Kawarai,S., Sakaguchi,M.,
            Yoshino,A., Itoh,N., Meguro,A. and Mizuki,N.
  TITLE     Dogs and humans share a common susceptibility gene SRBD1 for
            glaucoma risk
  JOURNAL   PLoS One 8 (9), e74372 (2013)
   PUBMED   24040232
  REMARK    GeneRIF: Dogs and humans share a common susceptibility gene SRBD1
            for glaucoma risk.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3667)
  AUTHORS   Meguro,A., Inoko,H., Ota,M., Mizuki,N. and Bahram,S.
  CONSRTM   Writing Committee for the Normal Tension Glaucoma Genetic Study
            Group of Japan Glaucoma Society
  TITLE     Genome-wide association study of normal tension glaucoma: common
            variants in SRBD1 and ELOVL5 contribute to disease susceptibility
  JOURNAL   Ophthalmology 117 (7), 1331-8 (2010)
   PUBMED   20363506
  REMARK    GeneRIF: Our genome-wide association study identified SRBD1 and
            ELOVL5 as new susceptibility genes for (normal tension glaucoma)
            NTG.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Ophthalmology. 2010 Nov;117(11):2103. Writing Committee
            fot the Normal Tension Glaucoma Genetic Study of Japan Glaucoma
            Society [corrected to Writing Committee for the Normal Tension
            Glaucoma Genetic Study of Japan Glaucoma Society]]
REFERENCE   4  (bases 1 to 3667)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA235970.1, AK056536.1 and BC032538.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018079.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.95242.1, AK056536.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263736.5/ ENSP00000263736.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA235970.1         29-31
            4-1960              AK056536.1         1-1957
            1961-3667           BC032538.1         963-2669
FEATURES             Location/Qualifiers
     source          1..3667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..3667
                     /gene="SRBD1"
                     /note="S1 RNA binding domain 1"
                     /db_xref="GeneID:55133"
                     /db_xref="HGNC:HGNC:25521"
     exon            1..49
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..3037
                     /gene="SRBD1"
                     /note="WUGSC:H_NH0576F01.1"
                     /codon_start=1
                     /product="S1 RNA-binding domain-containing protein 1"
                     /protein_id="NP_060549.4"
                     /db_xref="CCDS:CCDS1823.1"
                     /db_xref="GeneID:55133"
                     /db_xref="HGNC:HGNC:25521"
                     /translation="MSSLPRRAKVQVQDVVLKDEFSSFSELSSASEEDDKEDSAWEPQ
                     KKVPRSRKQPPPKESKPKRMPRVKKNAPQISDGSEVVVVKEELNSSVAIADTALEDRK
                     NKLDTVQTLKTAKTKQKCAAQPHTVRRTKKLKVEEETSKASNLEGESNSSETPSTSTV
                     WGGTCKKEENDDDFTFGQSALKKIKTETYPQGQPVKFPANANSTKEEVEMNWDMVQVL
                     SERTNIEPWVCANIIRLFNDDNTIPFIIRYRKELINNLDADSLREVQQTLEELRAVAK
                     KVHSTIQKIKKEGKMSECLLKAMLNCKTFEELEHVSAPYKTGSKGTKAQRARQLGLEG
                     AARALLEKPGELSLLSYIRPDVKGLSTLQDIEIGVQHILADMIAKDKDTLDFIRNLCQ
                     KRHVCIQSSLAKVSSKKVNEKDVDKFLLYQHFSCNIRNIHHHQILAINRGENLKVLTV
                     KVNISDGVKDEFCRWCIQNRWRPRSFARPELMKILYNSLNDSFKRLIYPLLCREFRAK
                     LTSDAEKESVMMFGRNLRQLLLTSPVPGRTLMGVDPGYKHGCKLAIISPTSQILHTDV
                     VYLHCGQGFREAEKIKTLLLNFNCSTVVIGNGTACRETEAYFADLIMKNYFAPLDVVY
                     CIVSEAGASIYSVSPEANKEMPGLDPNLRSAVSIARRVQDPLAELVKIEPKHIGVGMY
                     QHDVSQTLLKATLDSVVEECVSFVGVDINICSEVLLRHIAGLNANRAKNIIEWREKNG
                     PFINREQLKKVKGLGPKSFQQCAGFIRINQDYIRTFCSQQTETSGQIQGVAVTSSADV
                     EVTNEKQGKKKSKTAVNVLLKPNPLDQTCIHPESYDIAMRFLSSIGGTLYEVGKPEMQ
                     QKINSFLEKEGMEKIAERLQTTVHTLQVIIDGLSQPESFDFRTDFDKPDFKRSIVCLE
                     DLQIGTVLTGKVENATLFGIFVDIGVGKSGLIPIRNVTEAKLSKTKKRRSLGLGPGER
                     VEVQVLNIDIPRSRITLDLIRVL"
     exon            50..129
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            130..310
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            311..697
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..864
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            865..982
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1121
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1218
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1354
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1458
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1566
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1724
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1725..1815
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1923
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1924..2015
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2016..2098
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2099..2205
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2206..2382
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2383..2562
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2563..2747
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2748..3667
                     /gene="SRBD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3554..3559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRBD1"
                     /note="hexamer: AATATA"
     polyA_site      3572
                     /gene="SRBD1"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRBD1"
                     /note="hexamer: AATAAA"
     polyA_site      3667
                     /gene="SRBD1"
                     /note="major polyA site"
ORIGIN      
        1 gcggtggcac tcacggaatc tcgggtcttc tgacgtgccg ggcgggaaga tgtcatcatt
       61 gccaagaaga gcgaaagtac aggtccagga tgtggtactg aaagatgaat tttcttcatt
      121 ctctgagtta tcatctgcct ctgaagaaga tgacaaggaa gatagtgcct gggagcccca
      181 aaagaaagtt cccagaagcc gtaaacagcc ccctcccaag gaatccaaac caaagaggat
      241 gcctcgggtg aagaagaatg ccccacagat cagtgatggc tcagaagtcg ttgttgttaa
      301 ggaggagctg aatagctctg tggctattgc tgatactgct ttagaagaca gaaaaaataa
      361 attggatact gtacagactc tgaaaacagc caagacaaaa cagaaatgtg cagcgcagcc
      421 acatacagtt cgaaggacta aaaagctgaa agttgaagaa gaaaccagca aagccagcaa
      481 cttagagggt gagagtaata gttcagagac accatccaca agcactgtgt ggggaggtac
      541 atgcaagaag gaagagaatg acgatgactt tacatttggt cagtccgctt taaagaaaat
      601 caagactgag acatatcctc aggggcagcc tgtcaagttt ccagcaaatg ccaatagtac
      661 taaagaggag gtggaaatga attgggacat ggtacaggtt ttatctgaga gaactaatat
      721 tgaaccttgg gtttgtgcca acatcattcg tctctttaat gatgataaca caattccctt
      781 cattatacgt tatagaaaag agctcattaa taaccttgat gctgattcct tgagagaagt
      841 tcagcaaacc ctagaagagc tacgggctgt tgcaaagaaa gttcatagta caatccagaa
      901 aattaagaag gaagggaaga tgtctgagtg cttgttaaaa gccatgctga attgtaaaac
      961 ttttgaagaa ctagaacacg tgtctgctcc atataaaact ggaagcaaag ggactaaagc
     1021 ccagagagca agacagttgg gcttagaagg agcagccagg gcactgcttg agaaaccagg
     1081 ggagctcagt ctgctatcgt acattaggcc tgacgttaaa gggctttcaa cgcttcagga
     1141 tattgaaata ggagtgcagc atattttagc agatatgatt gctaaagaca aagacacgct
     1201 tgacttcatt cggaacttgt gccagaagag acatgtttgt atccagtcat ctctggcaaa
     1261 agtatcctca aaaaaggtaa atgagaaaga tgttgataag tttctgctct accagcattt
     1321 ttcctgcaac ataagaaaca ttcaccatca tcagattctg gcaattaacc gtggagaaaa
     1381 tttgaaggta ctgacggtta aggtcaatat ttctgatgga gtgaaggatg aattctgtag
     1441 gtggtgcatc caaaacaggt ggagaccacg tagctttgca aggccagagt taatgaagat
     1501 cttatataat tcactgaatg attcctttaa acgccttatt tatcctcttc tctgtagaga
     1561 attcagagcc aaactaacat cagatgcaga gaaggaatca gtaatgatgt ttggacggaa
     1621 ccttcgtcag ctccttttaa caagccctgt tccagggcgc accttaatgg gagtggatcc
     1681 tggttataaa catggttgca aattagctat aatttctcct actagtcaga tacttcatac
     1741 tgatgtggtt tacttgcatt gtggacaagg cttccgagag gcggagaaaa taaagacact
     1801 tttgctgaat ttcaactgca gcacagtagt gattggaaat ggaactgcct gcagggaaac
     1861 agaagcttac tttgctgacc tgataatgaa gaattatttt gcaccactgg atgttgttta
     1921 ctgtatcgtc agtgaagcag gagcatcaat ctacagtgtc agccctgaag ctaacaaaga
     1981 gatgccaggg ctggacccta atttgagaag tgcagtttcc atagcaaggc gtgtacaaga
     2041 tccattagct gagctagtga aaattgagcc aaagcacatt ggagttggaa tgtatcagca
     2101 tgacgtatcc cagactttac tcaaggcaac actggacagt gttgtagaag aatgtgtcag
     2161 ctttgtggga gtggatatta acatctgttc agaagttttg ttaaggcata ttgcaggact
     2221 caatgccaac agggccaaaa atattattga atggcgagag aaaaatggac cctttatcaa
     2281 ccgagaacag ctgaagaaag tgaaagggct gggcccaaaa tccttccaac agtgtgctgg
     2341 cttcatcaga atcaaccagg attatatccg aacgttttgc agtcagcaaa ctgaaacttc
     2401 aggccaaatt caaggagttg ctgtgacatc ttcagcagac gttgaggtca caaatgagaa
     2461 gcagggcaaa aagaagagca aaactgcagt gaatgtttta ctgaagccaa atcctttgga
     2521 ccaaacttgt attcatccag aatcatatga catagcaatg aggtttttgt catccattgg
     2581 agggacactg tatgaggttg gaaagcctga aatgcaacaa aaaataaatt cattccttga
     2641 aaaggaagga atggagaaaa ttgcagaaag attgcaaaca acagtacaca ccttacaggt
     2701 catcatagat ggtctcagcc agcctgaaag ctttgacttt cgaacagatt ttgataaacc
     2761 tgatttcaag agaagcatag tatgcctgga agatctgcag attgggacag ttcttacagg
     2821 caaagttgag aatgccactc tctttggaat ttttgtggat ataggagtgg ggaaatctgg
     2881 gctgattccc atacgaaatg taacagaagc aaaactttca aaaacaaaga agagaagaag
     2941 ccttggactg ggccccggag aaagagtgga agtccaagta ctcaacattg acatcccccg
     3001 atctaggatt actctggacc tcattcgggt gttatgagta tcccacgaag gccagacgct
     3061 gattttattt tctcatttcc acagattgac aaggataagt cagttgtttg taaactctag
     3121 gtagcagatg agaaataatt cacttaatat cagaaatatt ttccaaacac tttcctttat
     3181 tttttcttct gaataaatag aaaaccaaca gtttgatttc cttttccctt aaaggaaaca
     3241 actaatacac attcttatat ggctttatgt agtaatagtt ttctgactaa aattttgttt
     3301 tttatttttt gtaatttatc tttaactcct tttgcatttt gtataacaga ttgcttaact
     3361 tctacttgcc aacatctgcc ttgctggact tgtatgggat tgtcttcttg atttgaattg
     3421 taccgtcttt gttgacacag tagggctggg cagtgtttaa tccttccatt ttatagattt
     3481 ttttttaatc aggccttttg gacttcattc ataattttgc aataatctct tttcccttgt
     3541 catgcaagcc aaaaatatac cagtaaaaca gattctgacg tgtttgtagt tatcaaatga
     3601 atggctcgaa acacttctca aaaggatata cgtattgacc ccaacaataa atgtttgtgg
     3661 ctagtga
//
