LOCUS       NM_003721               1376 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens regulatory factor X associated ankyrin containing
            protein (RFXANK), transcript variant 1, mRNA.
ACCESSION   NM_003721
VERSION     NM_003721.4
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 1376)
  AUTHORS   Mousavi Khorshidi,M.S., Seeleuthner,Y., Chavoshzadeh,Z., Behfar,M.,
            Hamidieh,A.A., Alimadadi,H., Sherkat,R., Momen,T., Behniafard,N.,
            Eskandarzadeh,S., Mansouri,M., Behnam,M., Mahdavi,M., Heydarazad
            Zadeh,M., Shokri,M., Alizadeh,F., Movahedi,M., Momenilandi,M.,
            Keramatipour,M., Casanova,J.L., Cobat,A., Abel,L., Shahrooei,M. and
            Parvaneh,N.
  TITLE     Clinical, Immunological, and Genetic Findings in Iranian Patients
            with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder
            Mutation in the Iranian Population
  JOURNAL   J Clin Immunol 43 (8), 1941-1952 (2023)
   PUBMED   37584719
  REMARK    GeneRIF: Clinical, Immunological, and Genetic Findings in Iranian
            Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK
            Founder Mutation in the Iranian Population.
REFERENCE   2  (bases 1 to 1376)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1376)
  AUTHORS   Gao,J. and Xu,C.
  TITLE     Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK
  JOURNAL   Biochem Biophys Res Commun 523 (1), 263-266 (2020)
   PUBMED   31864703
  REMARK    GeneRIF: Structural basis for the recognition of RFX7 by ANKRA2 and
            RFXANK.
REFERENCE   4  (bases 1 to 1376)
  AUTHORS   Abolnezhadian,F., Saeedi-Boroujeni,A. and Iranparast,S.
  TITLE     MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case
            Report
  JOURNAL   Iran J Allergy Asthma Immunol 17 (6), 594-600 (2018)
   PUBMED   30644704
  REMARK    GeneRIF: this study reports an 8 month-old girl with MHC class II
            deficiency with a novel homozygous mutation in RFXANK gene and
            normal CD4+ T cell counts, diagnosed by whole exome sequencing and
            negative HLA-DR proteins on peripheral blood mononuclear cell in
            flow cytometry
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1376)
  AUTHORS   Forsberg,J., Li,X., Akpinar,B., Salvatori,R., Ott,M.,
            Zhivotovsky,B. and Olsson,M.
  TITLE     A caspase-2-RFXANK interaction and its implication for MHC class II
            expression
  JOURNAL   Cell Death Dis 9 (2), 80 (2018)
   PUBMED   29362422
  REMARK    GeneRIF: these data identify a novel caspase-2-interacting factor,
            RFXANK, and indicate a potential non-apoptotic role for the enzyme
            in the control of MHC class II gene regulation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1376)
  AUTHORS   Nagarajan,U.M., Peijnenburg,A., Gobin,S.J., Boss,J.M. and van den
            elsen,P.J.
  TITLE     Novel mutations within the RFX-B gene and partial rescue of MHC and
            related genes through exogenous class II transactivator in
            RFX-B-deficient cells
  JOURNAL   J Immunol 164 (7), 3666-3674 (2000)
   PUBMED   10725724
REFERENCE   7  (bases 1 to 1376)
  AUTHORS   Wiszniewski,W., Fondaneche,M.C., Lambert,N., Masternak,K.,
            Picard,C., Notarangelo,L., Schwartz,K., Bal,J., Reith,W.,
            Alcaide,C., de Saint Basile,G., Fischer,A. and
            Lisowska-Grospierre,B.
  TITLE     Founder effect for a 26-bp deletion in the RFXANK gene in North
            African major histocompatibility complex class II-deficient
            patients belonging to complementation group B
  JOURNAL   Immunogenetics 51 (4-5), 261-267 (2000)
   PUBMED   10803838
REFERENCE   8  (bases 1 to 1376)
  AUTHORS   Lin,J.H., Makris,A., McMahon,C., Bear,S.E., Patriotis,C.,
            Prasad,V.R., Brent,R., Golemis,E.A. and Tsichlis,P.N.
  TITLE     The ankyrin repeat-containing adaptor protein Tvl-1 is a novel
            substrate and regulator of Raf-1
  JOURNAL   J Biol Chem 274 (21), 14706-14715 (1999)
   PUBMED   10329666
REFERENCE   9  (bases 1 to 1376)
  AUTHORS   Nagarajan,U.M., Louis-Plence,P., DeSandro,A., Nilsen,R., Bushey,A.
            and Boss,J.M.
  TITLE     RFX-B is the gene responsible for the most common cause of the bare
            lymphocyte syndrome, an MHC class II immunodeficiency
  JOURNAL   Immunity 10 (2), 153-162 (1999)
   PUBMED   10072068
  REMARK    Erratum:[Immunity 1999 Mar;10(3):399]
REFERENCE   10 (bases 1 to 1376)
  AUTHORS   Masternak,K., Barras,E., Zufferey,M., Conrad,B., Corthals,G.,
            Aebersold,R., Sanchez,J.C., Hochstrasser,D.F., Mach,B. and Reith,W.
  TITLE     A gene encoding a novel RFX-associated transactivator is mutated in
            the majority of MHC class II deficiency patients
  JOURNAL   Nat Genet 20 (3), 273-277 (1998)
   PUBMED   9806546
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM682278.1, AF094760.1 and
            AW411190.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003721.3.
            
            Summary: Major histocompatibility (MHC) class II molecules are
            transmembrane proteins that have a central role in development and
            control of the immune system. The protein encoded by this gene,
            along with regulatory factor X-associated protein and regulatory
            factor-5, forms a complex that binds to the X box motif of certain
            MHC class II gene promoters and activates their transcription. Once
            bound to the promoter, this complex associates with the
            non-DNA-binding factor MHC class II transactivator, which controls
            the cell type specificity and inducibility of MHC class II gene
            expression. This protein contains ankyrin repeats involved in
            protein-protein interactions. Mutations in this gene have been
            linked to bare lymphocyte syndrome type II, complementation group
            B. Multiple alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR3476690.928654.1, AF094760.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303088.9/ ENSP00000305071.2
            RefSeq Select criteria :: based on computational evidence
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BM682278.1         82-110
            30-1374             AF094760.1         1-1345
            1375-1376           AW411190.1         21-22               c
FEATURES             Location/Qualifiers
     source          1..1376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1376
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /note="regulatory factor X associated ankyrin containing
                     protein"
                     /db_xref="GeneID:8625"
                     /db_xref="HGNC:HGNC:9987"
                     /db_xref="MIM:603200"
     exon            1..297
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            298..438
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            439..633
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     CDS             447..1229
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /note="isoform a is encoded by transcript variant 1;
                     ankyrin repeat-containing regulatory factor X-associated
                     protein; regulatory factor X subunit B; RFX-Bdelta4;
                     DNA-binding protein RFXANK; ankyrin repeat family A
                     protein 1"
                     /codon_start=1
                     /product="DNA-binding protein RFXANK isoform a"
                     /protein_id="NP_003712.1"
                     /db_xref="CCDS:CCDS12395.1"
                     /db_xref="GeneID:8625"
                     /db_xref="HGNC:HGNC:9987"
                     /db_xref="MIM:603200"
                     /translation="MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFP
                     CTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGE
                     LDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESA
                     LSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTT
                     EADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE"
     exon            634..717
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            718..783
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            784..884
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1010
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1077
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1158
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1376
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1357..1362
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /note="hexamer: AATAAA"
     polyA_site      1376
                     /gene="RFXANK"
                     /gene_synonym="ANKRA1; BLS; F14150_1; MHC2D2; RFX-B"
                     /note="major polyA site"
ORIGIN      
        1 ctttgcggac aagaaagggg ctgtgtgaga cgcagggaag gaggcacacc cgggggtggc
       61 gcagtgagga gggggcgcga cggccaggag gctggtggag cgacacccag gcaggagagg
      121 gggaagaact ctctcccttt ctgaaccccc ttttccttga gagacgagtt gggggagtcc
      181 tccacgcatt acccactcgg gccgcaaaaa ctcccttctt tagccctctg cccccgccct
      241 tgcttataag cctttgagac cgcagaaggg accttgttgt ggaacgggac ggccaagagg
      301 aagccagatc gctgagggtc cggtctccag tttgcctcct gctatatcca ttggaagaga
      361 aaagtttgtg acttgggccc ccaagttttg agagaactgg gctttcggcg cggggggaca
      421 gaggaggctc gtggggagct ttccccatgg agcttaccca gcctgcagaa gacctcatcc
      481 agacccagca gacccctgcc tcagaacttg gggaccctga agaccccgga gaggaggctg
      541 cagatggctc agacactgtg gtcctcagtc tctttccctg cacccctgag cctgtgaatc
      601 ctgaaccgga tgccagtgtt tcctctccac aggcaggcag ctccctgaag cactccacca
      661 ctctcaccaa ccggcagcga gggaacgagg tgtcagctct gccggccacc ctagactccc
      721 tgtccatcca ccagctcgca gcacaggggg agctggacca gctgaaggag catttgcgga
      781 aaggtgacaa cctcgtcaac aagccagacg agcgcggctt cacccccctc atctgggcct
      841 ccgcctttgg agagattgag accgttcgct tcctgctgga gtggggtgcc gacccccaca
      901 tcctggcaaa agagcgagag agcgccctgt cgctggccag cacaggcggc tacacagaca
      961 ttgtggggct gctgctggag cgtgacgtgg acatcaacat ctatgattgg aatggaggga
     1021 cgccactgct gtacgctgtg cgcgggaacc acgtgaaatg cgttgaggcc ttgctggccc
     1081 gaggcgctga cctcaccacc gaagccgact ctggctacac cccgatggac cttgccgtgg
     1141 ccctgggata ccggaaagtg caacaggtga tcgagaacca catcctcaag ctcttccaga
     1201 gcaacctggt gcccgctgac cctgagtgaa ggccgcctgc cggggactca gacactcagg
     1261 gaacaaaatg gtcagccaga gctggggaaa cccagaactg acttcaaagg cagcttctgg
     1321 acaggtggtg ggaggggacc cttcccaaga ggaaccaata aaccttctgt gcagaa
//
