LOCUS       NM_031157               3744 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1),
            transcript variant 2, mRNA.
ACCESSION   NM_031157
VERSION     NM_031157.4
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 3744)
  AUTHORS   Turner,J., Bruels,C.C., Daugherty,A.L., Estrella,E.A., Stafki,S.,
            Syeda,S.B., Littel,H.R., Pais,L., Ganesh,V.S., Lidov,H.G.W.,
            Paine,S.M.L., Maddison,P., Harrison,R.E., Straub,V., Ghosh,P.S.,
            Pacak,C.A., Kunkel,L.M., Draper,I., Topf,A. and Kang,P.B.
  TITLE     Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy
  JOURNAL   Muscle Nerve 70 (4), 843-850 (2024)
   PUBMED   39072769
  REMARK    GeneRIF: Dominant stop-loss HNRNPA1 variants in juvenile-onset
            myopathy.
REFERENCE   2  (bases 1 to 3744)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3744)
  AUTHORS   Sun,Y., Xiong,B., Shuai,X., Li,J., Wang,C., Guo,J., Cheng,Z. and
            Liu,S.
  TITLE     Downregulation of HNRNPA1 induced neoantigen generation via
            regulating alternative splicing
  JOURNAL   Mol Med 30 (1), 85 (2024)
   PUBMED   38867190
  REMARK    GeneRIF: Downregulation of HNRNPA1 induced neoantigen generation
            via regulating alternative splicing.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3744)
  AUTHORS   Siomi,H. and Dreyfuss,G.
  TITLE     A nuclear localization domain in the hnRNP A1 protein
  JOURNAL   J Cell Biol 129 (3), 551-560 (1995)
   PUBMED   7730395
REFERENCE   5  (bases 1 to 3744)
  AUTHORS   Saccone,S., Biamonti,G., Maugeri,S., Bassi,M.T., Bunone,G., Riva,S.
            and Della Valle,G.
  TITLE     Assignment of the human heterogeneous nuclear ribonucleoprotein A1
            gene (HNRPA1) to chromosome 12q13.1 by cDNA competitive in situ
            hybridization
  JOURNAL   Genomics 12 (1), 171-174 (1992)
   PUBMED   1733858
REFERENCE   6  (bases 1 to 3744)
  AUTHORS   Ghetti,A., Bolognesi,M., Cobianchi,F. and Morandi,C.
  TITLE     Modeling by homology of RNA binding domain in A1 hnRNP protein
  JOURNAL   FEBS Lett 277 (1-2), 272-276 (1990)
   PUBMED   2176620
REFERENCE   7  (bases 1 to 3744)
  AUTHORS   Buvoli,M., Cobianchi,F., Bestagno,M.G., Mangiarotti,A., Bassi,M.T.,
            Biamonti,G. and Riva,S.
  TITLE     Alternative splicing in the human gene for the core protein A1
            generates another hnRNP protein
  JOURNAL   EMBO J 9 (4), 1229-1235 (1990)
   PUBMED   1691095
REFERENCE   8  (bases 1 to 3744)
  AUTHORS   Biamonti,G., Buvoli,M., Bassi,M.T., Morandi,C., Cobianchi,F. and
            Riva,S.
  TITLE     Isolation of an active gene encoding human hnRNP protein A1.
            Evidence for alternative splicing
  JOURNAL   J Mol Biol 207 (3), 491-503 (1989)
   PUBMED   2760922
REFERENCE   9  (bases 1 to 3744)
  AUTHORS   Buvoli,M., Biamonti,G., Tsoulfas,P., Bassi,M.T., Ghetti,A., Riva,S.
            and Morandi,C.
  TITLE     cDNA cloning of human hnRNP protein A1 reveals the existence of
            multiple mRNA isoforms
  JOURNAL   Nucleic Acids Res 16 (9), 3751-3770 (1988)
   PUBMED   2836799
REFERENCE   10 (bases 1 to 3744)
  AUTHORS   Riva,S., Morandi,C., Tsoulfas,P., Pandolfo,M., Biamonti,G.,
            Merrill,B., Williams,K.R., Multhaup,G., Beyreuther,K., Werr,H. et
            al.
  TITLE     Mammalian single-stranded DNA binding protein UP I is derived from
            the hnRNP core protein A1
  JOURNAL   EMBO J 5 (9), 2267-2273 (1986)
   PUBMED   3023065
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CD705336.1, BC070315.1, BU541100.1, BC052296.1 and
            AC078778.34.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_031157.3.
            
            Summary: This gene encodes a member of a family of ubiquitously
            expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which
            are RNA-binding proteins that associate with pre-mRNAs in the
            nucleus and influence pre-mRNA processing, as well as other aspects
            of mRNA metabolism and transport. The protein encoded by this gene
            is one of the most abundant core proteins of hnRNP complexes and
            plays a key role in the regulation of alternative splicing.
            Mutations in this gene have been observed in individuals with
            amyotrophic lateral sclerosis 20. Multiple alternatively spliced
            transcript variants have been found. There are numerous pseudogenes
            of this gene distributed throughout the genome. [provided by
            RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2, also known as A1B) contains an
            alternate in-frame exon compared to variant 1, resulting in a
            longer protein (isoform b) than 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 :: SRR1803617.274967.1,
                                           SRR1803614.26916.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340913.11/ ENSP00000341826.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                CD705336.1         54-75
            23-396              BC070315.1         1-374
            397-1074            BU541100.1         3-680
            1075-1903           BC052296.1         867-1695
            1904-3744           AC078778.34        82740-84580         c
FEATURES             Location/Qualifiers
     source          1..3744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..3744
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /note="heterogeneous nuclear ribonucleoprotein A1"
                     /db_xref="GeneID:3178"
                     /db_xref="HGNC:HGNC:5031"
                     /db_xref="MIM:164017"
     exon            1..97
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1201
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /note="isoform b is encoded by transcript variant 2;
                     heterogeneous nuclear ribonucleoprotein B2 protein;
                     nuclear ribonucleoprotein particle A1 protein;
                     helix-destabilizing protein; single-strand DNA-binding
                     protein UP1; heterogeneous nuclear ribonucleoprotein core
                     protein A1; heterogeneous nuclear ribonucleoprotein A1B
                     protein; hnRNP core protein A1-like 3; single-strand
                     RNA-binding protein; putative heterogeneous nuclear
                     ribonucleoprotein A1-like 3; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="heterogeneous nuclear ribonucleoprotein A1
                     isoform b"
                     /protein_id="NP_112420.1"
                     /db_xref="CCDS:CCDS44909.1"
                     /db_xref="GeneID:3178"
                     /db_xref="HGNC:HGNC:5031"
                     /db_xref="MIM:164017"
                     /translation="MSKSESPKEPEQLRKLFIGGLSFETTDESLRSHFEQWGTLTDCV
                     VMRDPNTKRSRGFGFVTYATVEEVDAAMNARPHKVDGRVVEPKRAVSREDSQRPGAHL
                     TVKKIFVGGIKEDTEEHHLRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVD
                     KIVIQKYHTVNGHNCEVRKALSKQEMASASSSQRGRSGSGNFGGGRGGGFGGNDNFGR
                     GGNFSGRGGFGGSRGGGGYGGSGDGYNGFGNDGGYGGGGPGYSGGSRGYGSGGQGYGN
                     QGSGYGGSGSYDSYNNGGGGGFGGGSGSNFGGGGSYNDFGNYNNQSSNFGPMKGGNFG
                     GRSSGPYGGGGQYFAKPRNQGGYGGSSSSSSYGSGRRF"
     exon            98..214
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            215..361
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            362..572
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            573..665
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            666..758
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..833
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            834..989
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1145
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1205
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..3744
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1519..1524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /note="hexamer: AATAAA"
     polyA_site      1538
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /note="major polyA site"
     regulatory      1880..1885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
     regulatory      3725..3730
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
                     /note="hexamer: AATAAA"
     polyA_site      3744
                     /gene="HNRNPA1"
                     /gene_synonym="ALS19; ALS20; hnRNP A1; hnRNP-A1; HNRPA1;
                     HNRPA1L3; IBMPFD3; MPD3; UP 1"
ORIGIN      
        1 agatacgttc gtcagcttgc tcctttctgc ccgtggacgc cgccgaagaa gcatcgttaa
       61 agtctctctt caccctgccg tcatgtctaa gtcagagtct cctaaagagc ccgaacagct
      121 gaggaagctc ttcattggag ggttgagctt tgaaacaact gatgagagcc tgaggagcca
      181 ttttgagcaa tggggaacgc tcacggactg tgtggtaatg agagatccaa acaccaagcg
      241 ctccaggggc tttgggtttg tcacatatgc cactgtggag gaggtggatg cagctatgaa
      301 tgcaaggcca cacaaggtgg atggaagagt tgtggaacca aagagagctg tctccagaga
      361 agattctcaa agaccaggtg cccacttaac tgtgaaaaag atatttgttg gtggcattaa
      421 agaagacact gaagaacatc acctaagaga ttattttgaa cagtatggaa aaattgaagt
      481 gattgaaatc atgactgacc gaggcagtgg caagaaaagg ggctttgcct ttgtaacctt
      541 tgacgaccat gactccgtgg ataagattgt cattcagaaa taccatactg tgaatggcca
      601 caactgtgaa gttagaaaag ccctgtcaaa gcaagagatg gctagtgctt catccagcca
      661 aagaggtcga agtggttctg gaaactttgg tggtggtcgt ggaggtggtt tcggtgggaa
      721 tgacaacttc ggtcgtggag gaaacttcag tggtcgtggt ggctttggtg gcagccgtgg
      781 tggtggtgga tatggtggca gtggggatgg ctataatgga tttggtaatg atggtggtta
      841 tggaggaggc ggccctggtt actctggagg aagcagaggc tatggaagtg gtggacaggg
      901 ttatggaaac cagggcagtg gctatggcgg gagtggcagc tatgacagct ataacaacgg
      961 aggcggaggc ggctttggcg gtggtagtgg aagcaatttt ggaggtggtg gaagctacaa
     1021 tgattttggg aattacaaca atcagtcttc aaattttgga cccatgaagg gaggaaattt
     1081 tggaggcaga agctctggcc cctatggcgg tggaggccaa tactttgcaa aaccacgaaa
     1141 ccaaggtggc tatggcggtt ccagcagcag cagtagctat ggcagtggca gaagatttta
     1201 attaggaaac aaagcttagc aggagaggag agccagagaa gtgacaggga agctacaggt
     1261 tacaacagat ttgtgaactc agccaagcac agtggtggca gggcctagct gctacaaaga
     1321 agacatgttt tagacaaata ctcatgtgta tgggcaaaaa actcgaggac tgtatttgtg
     1381 actaattgta taacaggtta ttttagtttc tgttctgtgg aaagtgtaaa gcattccaac
     1441 aaagggtttt aatgtagatt tttttttttg caccccatgc tgttgattgc taaatgtaac
     1501 agtctgatcg tgacgctgaa taaatgtctt ttttttaatg tgctgtgtaa agttagtcta
     1561 ctcttaagcc atcttggtaa atttccccaa cagtgtgaag ttagaattcc ttcagggtga
     1621 tgccaggttc tatttggaat ttatatacaa cctgcttggg tggagaagcc attgtcttcg
     1681 gaaaccttgg tgtagttgaa ctgatagtta ctgttgtgac ctgaagttca ccattaaaag
     1741 ggattaccca agcaaaatca tggaatggtt ataaaagtga ttgttggcac atcctatgca
     1801 atatatctaa attgaataat ggtaccagat aaaattatag atgggaatga agcttgtgta
     1861 tccattatca tgtgtaatca ataaacgatt taattctctt gaatgaaatg acaactgtat
     1921 ggatttggga ctggcagaga tttggacttt ccctacccac tccccctgat aataatgttg
     1981 aatgcttcta tcacaattca agttcaaagc tctgccaggg aatagaaact agctgctggc
     2041 taatgccgct ccataaatcc gcagatttga agtgtctggg aggcctttta aaaataacta
     2101 atatcagaaa gcattttaat gaacgtaaag ataggcttac attaaaggaa aactgcagtt
     2161 tgactgggtt ctggttgggt gggccttcag aggttctatc agttaactat actaattaat
     2221 ttggagattc aaaccatacc aatagaaact aaatttttct acataatttc atgttaactg
     2281 cagtttccct ttatggcaca aggggtcaca caacctacct aaaatgttaa ttgtatagaa
     2341 aatgatttct aaacctttaa cagttaatat ccaataatgt gttatttgta catagattct
     2401 tttgagcctt acctttggtg ctctctcaat ttcagtgcta ttgtacctag tagcatagag
     2461 atttgtctat caataggact gtatattcca tcccatgggt gtgttggaag tttggggagg
     2521 aggagggtgg tgggaggtgg gtgggaggtg gtggtgggtg ggaaagcatg ggtgatagtt
     2581 ccatgatact ggctgagttt gcaatagcag gtggaaccct aactattgag ggagtttgca
     2641 gatacctcag gattcgtgac aatgccttta aagatccagg agagatgttc agctactagg
     2701 aactgctagc aagtatagcg cgaatggctc cgagctcaga cactctacag ctgagagtag
     2761 acacttgtgg tatgtggagt acagataagc caggggcagg ccacggcacg ctccatgaaa
     2821 gctaggaggg agtgaaatat cagtgatcat cgcaaggaag gaggcagaca agagtaaggc
     2881 acacctgact cttaggacta gcagtcagaa ccaggaggaa aggttttatt gctatgcggg
     2941 taggtaagaa cagattttac ttacatccat atagttactt aaagtccagt tttctgttaa
     3001 acatttttct taatatattg agccaaaact agtccagtta agctgaactt ggtttttctg
     3061 gagatgaatt gttttaaatt gacaccctat tgatggctcc cagttgaagg aagtgagcac
     3121 attatttgta ctgtgaatat aaatttttgc ccttttattt atcttccttt gacccatttc
     3181 cttaaaataa tggctcaaag taatagactt ccccaaatgg tggggggatg ggtgggttat
     3241 taatgggagg tatggggggt ttagcttgag atgggacttg gtcttagagc tagttctaaa
     3301 ggttgtttac ttttctaggg aggagtctgc tactagtctt atcagctctt aaaaacagaa
     3361 actcatctgt ccaagttcgt ggcagaaagg taagttttta caaattagtg ctcagcaaaa
     3421 gaatgccctg cgttcccaaa gtaaaagaat gacaagctgt accttaaacc aaaacacttc
     3481 gtaatctcat ccaattgcaa aaagagttat tagccaacca ggtattccca gtagtgacag
     3541 tggatataac tgtgtagtca ttcacctctg cttatatgaa tactttacaa cctcttttgc
     3601 cttttgcagg aacgtccttg tgaagacctt tatctgagcc actgtacttc gttatcactg
     3661 ccatgcagtt tacatgagct gttctgcagc tcaaattcca ttttgtgaat gggttttttt
     3721 ttttaataaa ctgtatttaa ctta
//
