LOCUS       NM_152551               4174 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens small nuclear ribonucleoprotein U11/U12 subunit 48
            (SNRNP48), mRNA.
ACCESSION   NM_152551
VERSION     NM_152551.4
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 4174)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 4174)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4174)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 4174)
  AUTHORS   Tidow,H., Andreeva,A., Rutherford,T.J. and Fersht,A.R.
  TITLE     Solution structure of the U11-48K CHHC zinc-finger domain that
            specifically binds the 5' splice site of U12-type introns
  JOURNAL   Structure 17 (2), 294-302 (2009)
   PUBMED   19217400
  REMARK    GeneRIF: A model in which the U11-48K Zn finger stabilizes U11-5'
            splice site base pairing and thus plays an important role during
            the minor spliceosome assembly.
REFERENCE   5  (bases 1 to 4174)
  AUTHORS   Turunen,J.J., Will,C.L., Grote,M., Luhrmann,R. and Frilander,M.J.
  TITLE     The U11-48K protein contacts the 5' splice site of U12-type introns
            and the U11-59K protein
  JOURNAL   Mol Cell Biol 28 (10), 3548-3560 (2008)
   PUBMED   18347052
  REMARK    GeneRIF: RNA interference-induced knockdown of 48K led to reduced
            cell growth and the inhibition of U12-type splicing, as well as the
            activation of cryptic, U2-type splice sites, suggesting that 48K
            plays a critical role in U12-type intron recognition.
REFERENCE   6  (bases 1 to 4174)
  AUTHORS   Will,C.L., Schneider,C., Hossbach,M., Urlaub,H., Rauhut,R.,
            Elbashir,S., Tuschl,T. and Luhrmann,R.
  TITLE     The human 18S U11/U12 snRNP contains a set of novel proteins not
            found in the U2-dependent spliceosome
  JOURNAL   RNA 10 (6), 929-941 (2004)
   PUBMED   15146077
REFERENCE   7  (bases 1 to 4174)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031058.1, AL832462.1, BC062458.1 and AL390026.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152551.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.24205.1,
                                           SRR1803616.153226.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342415.6/ ENSP00000339834.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL031058.1         55537-55537
            2-617               AL832462.1         2-617
            618-976             BC062458.1         579-937
            977-1489            AL832462.1         977-1489
            1490-4174           AL390026.1         10366-13050
FEATURES             Location/Qualifiers
     source          1..4174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..4174
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="small nuclear ribonucleoprotein U11/U12 subunit 48"
                     /db_xref="GeneID:154007"
                     /db_xref="HGNC:HGNC:21368"
     exon            1..216
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1080
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="U11/U12 snRNP 48K; small nuclear ribonucleoprotein
                     48kDa (U11/U12); U11/U12-48K; U11/U12 snRNP 48 kDa
                     protein; small nuclear ribonucleoprotein, U11/U12 48KDa
                     subunit; U11-48K"
                     /codon_start=1
                     /product="U11/U12 small nuclear ribonucleoprotein 48 kDa
                     protein"
                     /protein_id="NP_689764.3"
                     /db_xref="CCDS:CCDS4502.1"
                     /db_xref="GeneID:154007"
                     /db_xref="HGNC:HGNC:21368"
                     /translation="MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLD
                     PGEEEAAEDEVVICPYDSNHHMPKSSLAKHMASCRLRKMGYTKEEEDEMYNPEFFYEN
                     VKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQRIYSSLPVEVPLNHKRFVCDLTQAD
                     RLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDNSRKSPKSYLEILAEVRDY
                     KRRRQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSA
                     SVDSRQSGGSYLDAECSRHRRDRSRSPHKRKRNKDKDKNCESRRRKERDGERHHSHKR
                     RKQKI"
     exon            217..330
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            331..391
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            392..466
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            467..655
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            656..777
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            778..866
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1031
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..4174
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4045..4050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="hexamer: AATAAA"
     polyA_site      4070
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="major polyA site"
     regulatory      4148..4153
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="hexamer: ATTAAA"
     polyA_site      4174
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="major polyA site"
ORIGIN      
        1 agaggcctgc gcgtgcggtc tgcagttcgg ccgcttcctc ttggcgggtg ggctgcagct
       61 atggagggcg agcctccacc tgtggaggag cggcggcggc tgcaggagga gctgaacgag
      121 ttcgtggaga gcggctgccg gacgttggag gaggtgaccg cgtccctggg ctgggaccta
      181 gatagtctgg atcccgggga agaggaggcg gcggaggatg aagttgtgat atgtccatac
      241 gattccaatc atcacatgcc taaatcatct ttggcaaagc acatggcatc ttgtagattg
      301 aggaaaatgg gctataccaa agaagaagag gatgaaatgt ataatcctga gtttttctat
      361 gaaaatgtga agataccttc gattactttg aataaggact cacaattcca gataattaaa
      421 caagctagaa ctgcagttgg gaaagacagt gattgttata atcaaagaat ttattcttca
      481 ttgcctgttg aagttccttt gaatcacaaa cggtttgttt gtgatctaac tcaagctgat
      541 cgtcttgccc tctatgattt cgtagttgag gagacaaaga aaaagcgctc tgattctcaa
      601 attattgaaa atgacagcga tctctttgta gacttggctg ccaaaatcaa tcaagacaat
      661 agtcgaaaaa gtccaaaatc ctaccttgaa atcctggcag aagtacgaga ttataaaaga
      721 agacgccagt cctatagagc caagaatgtt cacataacca agaaatcata tactgaggtg
      781 attcgagatg tgataaatgt gcacatggaa gaactcagca atcattggca agaagagcaa
      841 gagaaggcag aggatgatgc cgaaaagaat gaagaaaggc gatcagcttc agtagattca
      901 cggcagtctg gtggaagcta tttggatgct gagtgttcac gacatagaag ggataggagt
      961 agaagcccac ataaaagaaa aagaaacaaa gataaggata aaaactgtga gtcgagaaga
     1021 aggaaagaga gggatgggga aagacaccat agtcataaaa gaagaaagca aaaaatataa
     1081 atgaagtact tgtacctata ttaattatgc ttacgccatg ataaccaata tacagatata
     1141 ttaattggaa ttcctttgca taggagaatg tttttatgat ctgtttagtg cttattattt
     1201 tttttatgat ctgtttagtg cttattattt tccagtaaat atgcttcaaa ccatgagtac
     1261 actattaggc cctacaactt tgttttcctt atattttatt agatgatttg cttcctataa
     1321 ctgatgttgt tttgttcgtt ttgctaatat atgtatctca aaattcttta agtcaatatt
     1381 tatcatatgt aaattaaaca tgaatacatt ctcatcttat aactacatct tataaataag
     1441 gctaataacc cttagaacac cacctgcggt tctgtcctca ccccagtggt gactactgtt
     1501 taccactaca ctggtgaatt gtagtaggga aaaacaatct aaatattgaa gaggaatggc
     1561 ctaattaaaa tatgatgtag tcataggata gattattgta ttggagttaa aagaaataat
     1621 ctagatccat attaacctgg attggtctca aaaacataat gctcagtgaa aatagcaagt
     1681 tgtagaaagt tatatacaaa ttatatatat gtacaaaaca atactatgca ttctctatgg
     1741 ctatataatg tacgtaaatc tatttttaaa ggttcagagg aatccatacc aaagttctaa
     1801 cagcgagtag gaggtataga tgagagatta ggggtgcaaa tcaggattgg gagggtggtc
     1861 agagggaact ttagctttat ccataacatt aattttttta aaaaataagg tcttaatgtt
     1921 tcatttaatt taaaatatac tgtcatgttg tgttttgtaa atcaactgaa ttgaggtact
     1981 atttacttag atttattgca ccctttttac gtgtgtattt tattgggttt tgacagattc
     2041 atacctctgt gcagccacta tcacgatcaa gatacaaata ttttcattgc ccccaaaatt
     2101 ctcatacccc ctttcccaat caattcctct acccctagcc ctaggcagcc acagatttgc
     2161 ttttggttac cgattagatc tatccattgt agaattcatg taaatagaat actgtagtat
     2221 gtactttgcc ttcttcctct ctgcagattt ttgagattga tccctgtgtg tcagttgtgc
     2281 attttttttg ttgctgagta gtatgttcta tcttatgtca gatcattcac gtgagacttt
     2341 ggcatgaaat gttaagcatc cgacatctaa atagcaatat tttgaatact ggaaactcag
     2401 gttaaagatt ttgtttccaa gtagaaatga aatcttatta ttttaataag tagctgacag
     2461 tgacagaaag attggatttg gatcagattg gctgttaggc ttcaggtatg ggaaacagct
     2521 ctcagattta taaattggaa atcaccaggt tacttgccaa tatatagtca tattgctgcc
     2581 attgtactta atttctaaat atataaaatc cacatttaaa aattataaaa gcaaggactt
     2641 gggagtgact gatgaatcat gaaattgctg cttttataga tcaaaactac ttgaatcatc
     2701 aggaatttca tatttttcat attgtgtgac aacttataat tttgtttcaa attgtgattt
     2761 cattgatttt actaactgga aggaagaaga gtaaaattgg catatttagg ttttttgtag
     2821 aagaaagata caagtgaaaa ttaggagtgg attggagaaa ttggggggaa atagaagagt
     2881 acggagaaag gaagagattg aaaatgttac cagagttctt taaagctcac attttatagt
     2941 atcactgcta caaactattt aatgaaatgt ggcatcgggt gaaaagaggc atttgtttga
     3001 tccttgaacg aattaatctc acgtacttcc ctgtttgtgg tttgagcctt tcactggatg
     3061 tgagctactt gagagcaggg tttatgcctt catcagcgtg acccctgtgc ctgcagcctc
     3121 ataggtgtta atctgtaatt ttaaattttg acaaaagcat tttcacagcc ctgccacata
     3181 agatctagtt tttatttcta gagtgctgct atgaataatt actatagctg ctgtccatct
     3241 tgcccatcca ttaaggtacc ttctcacaaa catttctaat ctactggctg gagtgcagtg
     3301 gtgcagtctg tagctcactg cagcctcaaa ctcctaggct caggcgatcc tcttgccctg
     3361 gcctcccatg tagctgcaac tataggtgtg tgccactaca cctggctaat gtttttagtt
     3421 ttttagagat ggagtcttgc tctgttgcct aggctggtct tgaactcctg ggctcagatg
     3481 atcctcctgt cctcagcctc ccaaaatgct gggagccacc aggcaccagg tgtgatctac
     3541 cacacctgtc taaaaagtat gtatttttaa atttttttgt agagacagga tctcactatg
     3601 ttctccagct ggtctcaagc tcctggcctc ggcctcctaa agtgctggga ttacaagtgt
     3661 gagccactgt gcctagtcac tttaattgag atattggcaa gtcaactgcc atgcagagcc
     3721 cagggcactg gttatattca gtaggaaact gaactcagca ctcagaattt taaattaaat
     3781 caatgatctt caagtatttg ccactttcga gtacagctaa ttggataatc tcaaaccctt
     3841 tagtgaaaat atcttaaatg cattgagaat attttctaat tacctgtgta tgctacagta
     3901 cagacattaa ttctataaac atgttcatag gtcttccccc tcgccccgcc cgtcttctaa
     3961 gggcattttc tgtttctttt tagtgagttc atgaatgttt aacggttctg gcgcaaagct
     4021 ttcttgcatt ctgagcataa aaataataaa acccacttat atttgcttga gtgtgtttac
     4081 aagtcaattt ccttttatgt agcttgcttt ttcatttgct ataattgatc ctgcaggtgt
     4141 gtgaattatt aaactaacgc tcttttaaac caca
//
