LOCUS       NM_006758                945 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1),
            transcript variant a, mRNA.
ACCESSION   NM_006758
VERSION     NM_006758.3
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 945)
  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   2  (bases 1 to 945)
  AUTHORS   Jin,P., Wang,X., Jin,Q., Zhang,Y., Shen,J., Jiang,G., Zhu,H.,
            Zhao,M., Wang,D., Li,Z., Zhou,Y., Li,W., Zhang,W., Liu,Y., Wang,S.,
            Jin,W., Cao,Y., Sheng,G., Dong,F., Wu,S., Li,X., Jin,Z., He,M.,
            Liu,X., Chen,L., Zhang,Y., Wang,K. and Li,J.
  TITLE     Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers
            Resistance to Chemotherapy in Acute Myeloid Leukemia
  JOURNAL   Cancer Res 84 (10), 1583-1596 (2024)
   PUBMED   38417135
  REMARK    GeneRIF: Mutant U2AF1-Induced Mis-Splicing of mRNA Translation
            Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Kwon,Y.S., Jin,S.W. and Song,H.
  TITLE     Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA
            elements required for mutually exclusive splicing by the U2- and
            U12-type spliceosome
  JOURNAL   Nucleic Acids Res 52 (3), 1420-1434 (2024)
   PUBMED   38088204
  REMARK    GeneRIF: Global analysis of binding sites of U2AF1 and ZRSR2
            reveals RNA elements required for mutually exclusive splicing by
            the U2- and U12-type spliceosome.
REFERENCE   4  (bases 1 to 945)
  AUTHORS   Nian,Q., Li,Y., Li,J., Zhao,L., Rodrigues Lima,F., Zeng,J., Liu,R.
            and Ye,Z.
  TITLE     U2AF1 in various neoplastic diseases and relevant targeted
            therapies for malignant cancers with complex mutations (Review)
  JOURNAL   Oncol Rep 51 (1) (2024)
   PUBMED   37975232
  REMARK    GeneRIF: U2AF1 in various neoplastic diseases and relevant targeted
            therapies for malignant cancers with complex mutations (Review).
            Review article
REFERENCE   5  (bases 1 to 945)
  AUTHORS   Badar,T., Vanegas,Y.A.M., Nanaa,A., Foran,J.M., Al-Kali,A.,
            Mangaonkar,A., Murthy,H., Alkhateeb,H.B., Viswanatha,D., He,R.,
            Shah,M., Yi,C.A., Litzow,M.R., Gangat,N., Tefferi,A. and
            Patnaik,M.M.
  TITLE     U2AF1 pathogenic variants in myeloid neoplasms and precursor
            states: distribution of co-mutations and prognostic heterogeneity
  JOURNAL   Blood Cancer J 13 (1), 149 (2023)
   PUBMED   37735430
  REMARK    GeneRIF: U2AF1 pathogenic variants in myeloid neoplasms and
            precursor states: distribution of co-mutations and prognostic
            heterogeneity.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 945)
  AUTHORS   Kalcheva,I., Plass,C., Sait,S., Eddy,R., Shows,T., Watkins-Chow,D.,
            Camper,S., Shibata,H., Ueda,T., Takagi,N. et al.
  TITLE     Comparative mapping of the imprinted U2afbpL gene on mouse
            chromosome 11 and human chromosome 5
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 19-24 (1995)
   PUBMED   7956352
REFERENCE   7  (bases 1 to 945)
  AUTHORS   Wu,J.Y. and Maniatis,T.
  TITLE     Specific interactions between proteins implicated in splice site
            selection and regulated alternative splicing
  JOURNAL   Cell 75 (6), 1061-1070 (1993)
   PUBMED   8261509
REFERENCE   8  (bases 1 to 945)
  AUTHORS   Zhang,M., Zamore,P.D., Carmo-Fonseca,M., Lamond,A.I. and Green,M.R.
  TITLE     Cloning and intracellular localization of the U2 small nuclear
            ribonucleoprotein auxiliary factor small subunit
  JOURNAL   Proc Natl Acad Sci U S A 89 (18), 8769-8773 (1992)
   PUBMED   1388271
REFERENCE   9  (bases 1 to 945)
  AUTHORS   Zamore,P.D. and Green,M.R.
  TITLE     Biochemical characterization of U2 snRNP auxiliary factor: an
            essential pre-mRNA splicing factor with a novel intranuclear
            distribution
  JOURNAL   EMBO J 10 (1), 207-214 (1991)
   PUBMED   1824937
REFERENCE   10 (bases 1 to 945)
  AUTHORS   Zamore,P.D. and Green,M.R.
  TITLE     Identification, purification, and biochemical characterization of
            U2 small nuclear ribonucleoprotein auxiliary factor
  JOURNAL   Proc Natl Acad Sci U S A 86 (23), 9243-9247 (1989)
   PUBMED   2531895
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB110007.1, AJ627978.1,
            BC005915.1 and AF370386.1.
            
            On Feb 12, 2020 this sequence version replaced NM_006758.2.
            
            Summary: This gene belongs to the splicing factor SR family of
            genes. U2 auxiliary factor, comprising a large and a small subunit,
            is a non-snRNP protein required for the binding of U2 snRNP to the
            pre-mRNA branch site. This gene encodes the small subunit which
            plays a critical role in both constitutive and enhancer-dependent
            RNA splicing by directly mediating interactions between the large
            subunit and proteins bound to the enhancers. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (a) lacks an in-frame segment of
            the coding region, compared to variant c. The resulting isoform (a)
            has a longer N-terminus when compared to isoform c.
            
            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 :: CT005151.1, CR994063.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291552.9/ ENSP00000291552.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                CB110007.1         9-54
            47-208              AJ627978.1         1-162
            209-275             BC005915.1         230-296
            276-859             AJ627978.1         230-813
            860-945             AF370386.1         1591-1676
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..945
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /note="U2 small nuclear RNA auxiliary factor 1"
                     /db_xref="GeneID:7307"
                     /db_xref="HGNC:HGNC:12453"
                     /db_xref="MIM:191317"
     exon            1..120
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..799
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /note="isoform a is encoded by transcript variant a;
                     splicing factor U2AF 35kDa subunit; U2(RNU2) small nuclear
                     RNA auxiliary factor binding protein; U2 snRNP auxiliary
                     factor small subunit; U2 small nuclear ribonucleoprotein
                     auxillary factor, 35-KD subunit; U2 small nuclear RNA
                     auxillary factor 1"
                     /codon_start=1
                     /product="splicing factor U2AF 35 kDa subunit isoform a"
                     /protein_id="NP_006749.1"
                     /db_xref="CCDS:CCDS13694.1"
                     /db_xref="GeneID:7307"
                     /db_xref="HGNC:HGNC:12453"
                     /db_xref="MIM:191317"
                     /translation="MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQ
                     TIALLNIYRNPQNSSQSADGLRCAVSDVEMQEHYDEFFEEVFTEMEEKYGEVEEMNVC
                     DNLGDHLVGNVYVKFRREEDAEKAVIDLNNRWFNGQPIHAELSPVTDFREACCRQYEM
                     GECTRGGFCNFMHLKPISRELRRELYGRRRKKHRSRSRSRERRSRSRDRGRGGGGGGG
                     GGGGGRERDRRRSRDRERSGRF"
     exon            121..208
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     exon            209..275
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     exon            276..325
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     exon            326..424
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     exon            425..558
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     exon            559..651
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     exon            652..945
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      921..926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /note="hexamer: AATAAA"
     polyA_site      945
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /note="major polyA site"
ORIGIN      
        1 gacgtctccc gagggcgtcg gcagggtcgg cggcgtcggc agcagtgtcg acggcagcgg
       61 cggcggcggg tgggaaatgg cggagtatct ggcctccatc ttcggcaccg agaaagacaa
      121 agtcaactgt tcattttatt tcaaaattgg agcatgtcgt catggagaca ggtgctctcg
      181 gttgcacaat aaaccgacgt ttagccagac cattgccctc ttgaacattt accgtaaccc
      241 tcaaaactct tcccagtctg ctgacggttt gcgctgtgcc gtgagcgatg tggagatgca
      301 ggaacactat gatgagtttt ttgaggaggt ttttacagaa atggaggaga agtatgggga
      361 agtagaggag atgaacgtct gtgacaacct gggagaccac ctggtgggga acgtgtacgt
      421 caagtttcgc cgtgaggaag atgcggaaaa ggctgtgatt gacttgaata accgttggtt
      481 taatggacag ccgatccacg ccgagctgtc acccgtgacg gacttcagag aagcctgctg
      541 ccgtcagtat gagatgggag aatgcacacg aggcggcttc tgcaacttca tgcatttgaa
      601 gcccatttcc agagagctgc ggcgggagct gtatggccgc cgtcgcaaga agcatagatc
      661 aagatcccga tcccgggagc gtcgttctcg gtctagagac cgtggtcgtg gcggtggcgg
      721 tggcggtggt ggaggtggcg gcggacggga gcgtgacagg aggcggtcga gagatcgtga
      781 aagatctggg cgattctgag ccatgccatt tttaccttat gtctgctaga aagtgttgta
      841 gttgattgac caaaccagtt cataagggga atttttttta aaaaacaaca aaaaaaaaaa
      901 catacaaaga tgggtttctg aataaaattt gtagtgataa cagta
//
