LOCUS       NM_032141               2506 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1),
            transcript variant 1, mRNA.
ACCESSION   NM_032141
VERSION     NM_032141.4
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 2506)
  AUTHORS   Zhao,Y., Sun,H., Zhao,Y., Liu,Q., Liu,Y., Hou,Y. and Jin,W.
  TITLE     NSrp70 suppresses metastasis in triple-negative breast cancer by
            modulating Numb/TbetaR1/EMT axis
  JOURNAL   Oncogene 41 (25), 3409-3422 (2022)
   PUBMED   35568738
  REMARK    GeneRIF: NSrp70 suppresses metastasis in triple-negative breast
            cancer by modulating Numb/TbetaR1/EMT axis.
REFERENCE   2  (bases 1 to 2506)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 2506)
  AUTHORS   Calame,D.G., Bakhtiari,S., Logan,R., Coban-Akdemir,Z., Du,H.,
            Mitani,T., Fatih,J.M., Hunter,J.V., Herman,I., Pehlivan,D.,
            Jhangiani,S.N., Person,R., Schnur,R.E., Jin,S.C., Bilguvar,K.,
            Posey,J.E., Koh,S., Firouzabadi,S.G., Alehabib,E., Tafakhori,A.,
            Esmkhani,S., Gibbs,R.A., Noureldeen,M.M., Zaki,M.S., Marafi,D.,
            Darvish,H., Kruer,M.C. and Lupski,J.R.
  TITLE     Biallelic loss-of-function variants in the splicing regulator NSRP1
            cause a severe neurodevelopmental disorder with spastic cerebral
            palsy and epilepsy
  JOURNAL   Genet Med 23 (12), 2455-2460 (2021)
   PUBMED   34385670
  REMARK    GeneRIF: Biallelic loss-of-function variants in the splicing
            regulator NSRP1 cause a severe neurodevelopmental disorder with
            spastic cerebral palsy and epilepsy.
REFERENCE   4  (bases 1 to 2506)
  AUTHORS   Kim,C.H., Kim,Y.D., Choi,E.K., Kim,H.R., Na,B.R., Im,S.H. and
            Jun,C.D.
  TITLE     Nuclear Speckle-related Protein 70 Binds to Serine/Arginine-rich
            Splicing Factors 1 and 2 via an Arginine/Serine-like Region and
            Counteracts Their Alternative Splicing Activity
  JOURNAL   J Biol Chem 291 (12), 6169-6181 (2016)
   PUBMED   26797131
  REMARK    GeneRIF: NSrp70 acts as a new molecular counterpart for alternative
            splicing of target RNA, counteracting SRSF1 and SRSF2 splicing
            activity.
REFERENCE   5  (bases 1 to 2506)
  AUTHORS   Xie,J., Gizatullin,R., Vukojevic,V. and Leopardi,R.
  TITLE     The CCDC55 couples cannabinoid receptor CNR1 to a putative DISC1
            schizophrenia pathway
  JOURNAL   Neuroscience 310, 723-730 (2015)
   PUBMED   26475744
  REMARK    GeneRIF: Coiled coil domain-containing 55 gene may be involved in a
            functional bridging between the CNR1 activation and the disrupted
            in schizophrenia 1/Ran binding protein 9-associated pathways.
REFERENCE   6  (bases 1 to 2506)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (bases 1 to 2506)
  AUTHORS   Kim,Y.D., Lee,J.Y., Oh,K.M., Araki,M., Araki,K., Yamamura,K. and
            Jun,C.D.
  TITLE     NSrp70 is a novel nuclear speckle-related protein that modulates
            alternative pre-mRNA splicing in vivo
  JOURNAL   Nucleic Acids Res 39 (10), 4300-4314 (2011)
   PUBMED   21296756
REFERENCE   8  (bases 1 to 2506)
  AUTHORS   Horikawa,Y., Wood,C.G., Yang,H., Zhao,H., Ye,Y., Gu,J., Lin,J.,
            Habuchi,T. and Wu,X.
  TITLE     Single nucleotide polymorphisms of microRNA machinery genes modify
            the risk of renal cell carcinoma
  JOURNAL   Clin Cancer Res 14 (23), 7956-7962 (2008)
   PUBMED   19047128
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2506)
  AUTHORS   Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   10 (bases 1 to 2506)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC327004.1, BC105044.1, AL136806.1 and AA811439.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032141.3.
            
            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 :: AL136806.1, SRR3476690.918857.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000247026.10/ ENSP00000247026.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DC327004.1         10-13
            5-1771              BC105044.1         1-1767
            1772-2504           AL136806.1         1772-2504
            2505-2506           AA811439.1         12-13               c
FEATURES             Location/Qualifiers
     source          1..2506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..2506
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /note="nuclear speckle splicing regulatory protein 1"
                     /db_xref="GeneID:84081"
                     /db_xref="HGNC:HGNC:25305"
                     /db_xref="MIM:616173"
     exon            1..48
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1705
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain containing 55; coiled-coil
                     domain-containing protein 55; nuclear speckle-related
                     protein 70"
                     /codon_start=1
                     /product="nuclear speckle splicing regulatory protein 1
                     isoform 1"
                     /protein_id="NP_115517.1"
                     /db_xref="CCDS:CCDS11255.1"
                     /db_xref="GeneID:84081"
                     /db_xref="HGNC:HGNC:25305"
                     /db_xref="MIM:616173"
                     /translation="MAIPGRQYGLILPKKTQQLHPVLQKPSVFGNDSDDDDETSVSES
                     LQREAAKKQAMKQTKLEIQKALAEDATVYEYDSIYDEMQKKKEENNPKLLLGKDRKPK
                     YIHNLLKAVEIRKKEQEKRMEKKIQREREMEKGEFDDKEAFVTSAYKKKLQERAEEEE
                     REKRAAALEACLDVTKQKDLSGFYRHLLNQAVGEEEVPKCSFREARSGIKEEKSRGFS
                     NEVSSKNRIPQEKCILQTDVKVEENPDADSDFDAKSSADDEIEETRVNCRREKVIETP
                     ENDFKHHRSQNHSRSPSEERGHSTRHHTKGSRTSRGHEKREDQHQQKQSRDQENHYTD
                     RDYRKERDSHRHREASHRDSHWKRHEQEDKPRARDQRERSDRVWKREKDREKYSQREQ
                     ERDRQQNDQNRPSEKGEKEEKSKAKEEHMKVRKERYENNDKYRDREKREVGVQSSERN
                     QDRKESSPNSRAKDKFLDQERSNKMRNMAKDKERNQEKPSNSESSLGAKHRLTEEGQE
                     KGKEQERPPEAVSKFAKRNNEETVMSARDRYLARQMARVNAKTYIEKEDD"
     exon            49..142
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     exon            143..199
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     exon            200..328
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     exon            329..536
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     exon            537..645
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     exon            646..2506
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2480..2485
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /note="hexamer: AATAAA"
     polyA_site      2506
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /note="major polyA site"
ORIGIN      
        1 ggccacgttc agcggacacg ggagcaagat ggcgattccg ggcaggcagt atgggcttat
       61 tttgccaaag aaaacacagc agttgcaccc tgttttgcaa aaaccatcag tgtttgggaa
      121 tgattctgat gatgatgatg agacctctgt gagtgaaagc cttcagaggg aagctgctaa
      181 gaagcaggcc atgaaacaga ccaaactgga aatccagaag gcccttgcag aagatgctac
      241 tgtgtatgaa tatgacagta tttatgatga aatgcagaaa aaaaaggagg aaaataatcc
      301 caaattgctt ttggggaaag acagaaagcc caagtatatt cacaacttgc taaaagcagt
      361 tgagatcaga aaaaaggaac aggaaaaaag aatggaaaag aaaatacaga gagaacgaga
      421 aatggaaaag ggggagtttg atgataaaga agcatttgtg acatctgcat ataagaaaaa
      481 actgcaagag agagctgaag aagaagaaag agaaaagagg gctgctgcac tggaagcatg
      541 tttggatgta accaagcaga aagatctcag tggattttat aggcacctat taaatcaagc
      601 agttggtgaa gaggaagtac ctaaatgcag ctttcgtgaa gccagatctg gtataaagga
      661 agaaaaatca aggggcttct ccaatgaagt aagttcaaaa aacagaatac cacaagagaa
      721 atgcattctt caaactgatg tgaaagtaga ggaaaaccca gatgcagaca gtgacttcga
      781 tgctaagagc agtgcggatg atgaaataga agaaactaga gtgaactgca gaagggaaaa
      841 ggtcatagag acccctgaga atgacttcaa gcaccacagg agtcaaaacc actctcggtc
      901 acctagtgaa gaaagagggc acagtaccag gcaccacacg aaaggatcac gaacgtcgag
      961 aggacatgag aaaagggaag atcagcacca gcagaagcaa tccagagacc aagagaacca
     1021 ttacactgac cgtgattacc ggaaagaaag ggattctcat aggcacagag aggccagtca
     1081 tagagattcc cattggaaga ggcatgaaca ggaagataaa ccaagggcga gggaccaaag
     1141 agaaagaagt gacagagtat ggaaaaggga gaaagatagg gagaaatatt cccaaagaga
     1201 acaagaaaga gatagacaac aaaatgatca gaaccgaccc agtgagaaag gagagaagga
     1261 agagaaaagc aaagcaaagg aagagcatat gaaagtaagg aaggaaagat atgaaaataa
     1321 tgataaatac agagatagag aaaaacgaga ggtaggtgtt cagtcttcag aaagaaatca
     1381 agacagaaag gaaagcagcc caaattctag ggcaaaggat aaatttcttg accaagaaag
     1441 atccaacaaa atgagaaaca tggcaaagga caaagaaaga aaccaagaga aaccctctaa
     1501 ttctgaatca tcactgggag caaaacacag actcacagag gaagggcaag agaagggtaa
     1561 agaacaagag agaccacctg aggcagtgag caagtttgca aagcggaaca atgaagaaac
     1621 tgtaatgtca gctagagaca ggtacttggc caggcagatg gcgcgggtta atgcaaagac
     1681 ctatattgag aaagaagatg attgatggct accccaagag aaagatttaa ggaagcacag
     1741 aaaactgtaa ttcctggaac ctgctgcgta aaaccataaa ggagtgtgtt accagtagtt
     1801 tggagggcat ttttaaattt attttcaaaa ttttaagtta aaagtcagtc ttacagcttg
     1861 gatgtttgga tgtggatgtt tggctgaatt tatatatagt gtgtactcat caataccaca
     1921 ttctttgttg tattcaagaa ccgttaagag tgtgctaatt ccctgtaggt acataatgag
     1981 gaaaatttgc tccactacaa ccattaaaaa ataattttgg ccagatacgg tagctcgtgc
     2041 ctgtaatacc aacattttgg gaggccaagg cagaaggata ttgaggctag gcattcaaga
     2101 ccagcctagg caggataata agaccttgtc tctatttaaa aaacaaaaag cctagcatgg
     2161 tagtccatgc ctgtagtccc agctgttcga gaggctgagg caagaagatc acttgagcct
     2221 aggaatttga tgttacagtg aggtatgatc atgccactgc actccaacct gggcaacaga
     2281 atgagaccct gtctctaaaa aatttttttt aaataaataa tttaactctt ctaataatgt
     2341 tttgttgcag gaaatgtatt tcagataaaa tatggatttg aaaaacagaa aatatacttt
     2401 atgttctgaa atttgtattt aagtataaaa tgtgaatcat cttgtctaaa tagcttacag
     2461 catagttggc ttaaatgaaa ataaaatgat atgcttatac atttta
//
