LOCUS       NM_003136               2187 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens signal recognition particle 54 (SRP54), transcript
            variant 1, mRNA.
ACCESSION   NM_003136 XM_940545
VERSION     NM_003136.4
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 2187)
  AUTHORS   McCarthy,P., Cotter,M. and Smith,O.P.
  TITLE     Autosomal dominant Shwachman-Diamond syndrome with a novel
            heterozygous missense variant in the SRP54 gene causing severe
            phenotypic features
  JOURNAL   Br J Haematol 196 (3), e39-e42 (2022)
   PUBMED   34549814
  REMARK    GeneRIF: Autosomal dominant Shwachman-Diamond syndrome with a novel
            heterozygous missense variant in the SRP54 gene causing severe
            phenotypic features.
REFERENCE   2  (bases 1 to 2187)
  AUTHORS   Schurch,C., Schaefer,T., Muller,J.S., Hanns,P., Arnone,M.,
            Dumlin,A., Scharer,J., Sinning,I., Wild,K., Skokowa,J., Welte,K.,
            Carapito,R., Bahram,S., Konantz,M. and Lengerke,C.
  TITLE     SRP54 mutations induce congenital neutropenia via dominant-negative
            effects on XBP1 splicing
  JOURNAL   Blood 137 (10), 1340-1352 (2021)
   PUBMED   33227812
  REMARK    GeneRIF: SRP54 mutations induce congenital neutropenia via
            dominant-negative effects on XBP1 splicing.
REFERENCE   3  (bases 1 to 2187)
  AUTHORS   Juaire,K.D., Lapouge,K., Becker,M.M.M., Kotova,I., Michelhans,M.,
            Carapito,R., Wild,K., Bahram,S. and Sinning,I.
  TITLE     Structural and Functional Impact of SRP54 Mutations Causing Severe
            Congenital Neutropenia
  JOURNAL   Structure 29 (1), 15-28 (2021)
   PUBMED   33053321
  REMARK    GeneRIF: Structural and Functional Impact of SRP54 Mutations
            Causing Severe Congenital Neutropenia.
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Goldberg,L., Simon,A.J., Rechavi,G., Lev,A., Barel,O., Kunik,V.,
            Toren,A., Schiby,G., Tamary,H., Steinberg-Shemer,O. and Somech,R.
  TITLE     Congenital neutropenia with variable clinical presentation in novel
            mutation of the SRP54 gene
  JOURNAL   Pediatr Blood Cancer 67 (6), e28237 (2020)
   PUBMED   32277798
  REMARK    GeneRIF: Congenital neutropenia with variable clinical presentation
            in novel mutation of the SRP54 gene.
REFERENCE   5  (bases 1 to 2187)
  AUTHORS   Wild,K., Juaire,K.D., Soni,K., Shanmuganathan,V., Hendricks,A.,
            Segnitz,B., Beckmann,R. and Sinning,I.
  TITLE     Reconstitution of the human SRP system and quantitative and
            systematic analysis of its ribosome interactions
  JOURNAL   Nucleic Acids Res 47 (6), 3184-3196 (2019)
   PUBMED   30649417
  REMARK    GeneRIF: e show that SRP RNA does not bind to the ribosome, while
            SRP binds with nanomolar affinity involving a two-step mechanism of
            the key-player SRP54. Ultrasensitive binding of SRP68/72 indicates
            avidity by multiple binding sites that are dominated by the
            C-terminus of SRP72
REFERENCE   6  (bases 1 to 2187)
  AUTHORS   Gowda,K., Chittenden,K. and Zwieb,C.
  TITLE     Binding site of the M-domain of human protein SRP54 determined by
            systematic site-directed mutagenesis of signal recognition particle
            RNA
  JOURNAL   Nucleic Acids Res 25 (2), 388-394 (1997)
   PUBMED   9016569
REFERENCE   7  (bases 1 to 2187)
  AUTHORS   Bacher,G., Lutcke,H., Jungnickel,B., Rapoport,T.A. and
            Dobberstein,B.
  TITLE     Regulation by the ribosome of the GTPase of the signal-recognition
            particle during protein targeting
  JOURNAL   Nature 381 (6579), 248-251 (1996)
   PUBMED   8622769
REFERENCE   8  (bases 1 to 2187)
  AUTHORS   Patel,S. and Austen,B.
  TITLE     Sequence of the highly conserved gene encoding the human 54kDa
            subunit of signal recognition particle
  JOURNAL   DNA Seq 6 (3), 167-170 (1996)
   PUBMED   8722571
REFERENCE   9  (bases 1 to 2187)
  AUTHORS   Miller,J.D., Wilhelm,H., Gierasch,L., Gilmore,R. and Walter,P.
  TITLE     GTP binding and hydrolysis by the signal recognition particle
            during initiation of protein translocation
  JOURNAL   Nature 366 (6453), 351-354 (1993)
   PUBMED   8247130
REFERENCE   10 (bases 1 to 2187)
  AUTHORS   Nelson,A. and Myers,K.
  TITLE     Shwachman-Diamond Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301722
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA495064.1 and BC000652.2.
            
            On Nov 22, 2018 this sequence version replaced NM_003136.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803615.126494.1,
                                           SRR5189658.194175.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216774.11/ ENSP00000216774.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                DA495064.1         311-349
            40-2187             BC000652.2         1-2148
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     gene            1..2187
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /note="signal recognition particle 54"
                     /db_xref="GeneID:6729"
                     /db_xref="HGNC:HGNC:11301"
                     /db_xref="MIM:604857"
     exon            1..224
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            225..335
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     CDS             258..1772
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /EC_number="3.6.5.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     signal recognition particle 54 kDa protein; signal
                     recognition particle 54kD; signal recognition particle
                     54kDa; signal recognition particle subunit SRP54"
                     /codon_start=1
                     /product="signal recognition particle subunit SRP54
                     isoform 1"
                     /protein_id="NP_003127.1"
                     /db_xref="CCDS:CCDS9652.1"
                     /db_xref="GeneID:6729"
                     /db_xref="HGNC:HGNC:11301"
                     /db_xref="MIM:604857"
                     /translation="MVLADLGRKITSALRSLSNATIINEEVLNAMLKEVCTALLEADV
                     NIKLVKQLRENVKSAIDLEEMASGLNKRKMIQHAVFKELVKLVDPGVKAWTPTKGKQN
                     VIMFVGLQGSGKTTTCSKLAYYYQRKGWKTCLICADTFRAGAFDQLKQNATKARIPFY
                     GSYTEMDPVIIASEGVEKFKNENFEIIIVDTSGRHKQEDSLFEEMLQVANAIQPDNIV
                     YVMDASIGQACEAQAKAFKDKVDVASVIVTKLDGHAKGGGALSAVAATKSPIIFIGTG
                     EHIDDFEPFKTQPFISKLLGMGDIEGLIDKVNELKLDDNEALIEKLKHGQFTLRDMYE
                     QFQNIMKMGPFSQILGMIPGFGTDFMSKGNEQESMARLKKLMTIMDSMNDQELDSTDG
                     AKVFSKQPGRIQRVARGSGVSTRDVQELLTQYTKFAQMVKKMGGIKGLFKGGDMSKNV
                     SQSQMAKLNQQMAKMMDPRVLHHMGGMAGLQSMMRQFQQGAAGNMKGMMGFNNM"
     exon            336..427
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            428..512
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            513..617
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            618..684
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            685..742
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            743..893
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1042
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1143
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1230
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1304
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1413
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1584
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1680
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     exon            1681..2187
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1966..1971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /note="hexamer: AATACA"
     polyA_site      1989
                     /gene="SRP54"
                     /gene_synonym="SCN8"
     regulatory      2160..2165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /note="hexamer: AATAAA"
     polyA_site      2187
                     /gene="SRP54"
                     /gene_synonym="SCN8"
                     /note="major polyA site"
ORIGIN      
        1 attgggcgga aggttcgctg gcactccgtt ggtcttccag ctggtgggag ttgacgacgt
       61 ggtgctgggc gttgggaccc tactttatct agttcgggaa gttgggttgt ggggtcatac
      121 ctgtctgtct gctcccagct ttcttgggtt tcttccgacg gcgtggggcc tcgctaagga
      181 attcccggcc cctcagggcc acggctttag cggtgtcttt tgcgagttct tcgtaagtac
      241 atcttaaagc tgtcaagatg gttctagcag accttggaag aaaaataaca tcagcattac
      301 gctcgttgag caatgccacc attatcaatg aagaggtatt gaatgctatg ctaaaagaag
      361 tctgtaccgc tttgttggaa gcagatgtta atattaaact agtgaagcaa ctaagagaaa
      421 atgttaagtc tgctattgat cttgaagaga tggcatctgg tcttaacaaa agaaaaatga
      481 ttcagcatgc tgtatttaaa gaacttgtga agcttgtaga ccctggagtt aaggcatgga
      541 cacccactaa aggaaaacaa aatgtgatta tgtttgttgg attgcaaggg agtggtaaaa
      601 caacaacatg ttcaaagcta gcatattatt accagaggaa aggttggaag acctgtttaa
      661 tatgtgcaga cacattcaga gcaggggctt ttgaccaact aaaacagaat gctaccaaag
      721 caagaattcc attttatgga agctatacag aaatggatcc tgtcatcatt gcttctgaag
      781 gagtagagaa atttaaaaat gaaaattttg aaattattat tgttgataca agtggccgcc
      841 acaaacaaga agactctttg tttgaagaaa tgcttcaagt tgctaatgct atacaacctg
      901 ataacattgt ttatgtgatg gatgcctcca ttgggcaggc ttgtgaagcc caggctaagg
      961 cttttaaaga taaagtagat gtagcctcag taatagtgac aaaacttgat ggccatgcaa
     1021 aaggaggtgg tgcactcagt gcagtcgctg ccacaaaaag tccgattatt ttcattggta
     1081 caggggaaca tatagatgac tttgaacctt tcaaaacaca gccttttatt agcaaacttc
     1141 ttggtatggg cgacattgaa ggactgatag ataaagtcaa cgagttgaag ttggatgaca
     1201 atgaagcact tatagagaag ttgaaacatg gtcagtttac gttgcgagac atgtatgagc
     1261 aatttcaaaa tatcatgaaa atgggcccct tcagtcagat cttggggatg atccctggtt
     1321 ttgggacaga ttttatgagc aaaggaaatg aacaggagtc aatggcaagg ctaaagaaat
     1381 taatgacaat aatggatagt atgaatgatc aagaactaga cagtacggat ggtgccaaag
     1441 tttttagtaa acaaccagga agaatccaaa gagtagcaag aggatcgggt gtatcaacaa
     1501 gagatgttca agaacttttg acacaatata ccaagtttgc acagatggta aaaaagatgg
     1561 gaggtatcaa aggacttttc aaaggtggcg acatgtctaa gaatgtgagc cagtcacaga
     1621 tggcaaaatt gaaccaacaa atggccaaaa tgatggatcc tagggttctt catcacatgg
     1681 gtggtatggc aggacttcag tcaatgatga ggcagtttca acagggtgct gctggcaaca
     1741 tgaaaggcat gatgggattc aataatatgt aaagaaaatg ccttaatata aactgactca
     1801 gttgaatacc taatttgctg agacctcagc gtttcccttc tttttgcgaa ttggggggaa
     1861 agtgtatttt tcttgcttat catgcactct ttccttttct tctcgcccgc ttttcccctc
     1921 cttttctttt tccttccttc tttcctccct ttaatataag ggagaaatac atggtttttg
     1981 tggaaatcat tatatgtttg ctttagattt tcttctgttt tcaccatcat aacacttaag
     2041 ttaaatcatg atgtaaaatt ttagtactta aaggttttta attatctcga aggccaagca
     2101 ttgcatttgt aaacagtcct ggtcagtagt taaataatgt ttcaattaaa gtgctgtaaa
     2161 ataaacttca aagtggttat aagttaa
//
