LOCUS       NM_001025603            3570 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens regulatory factor X5 (RFX5), transcript variant 2,
            mRNA.
ACCESSION   NM_001025603
VERSION     NM_001025603.2
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 3570)
  AUTHORS   Guo,L. and Liu,D.
  TITLE     Identification of RFX5 as prognostic biomarker and associated with
            immune infiltration in stomach adenocarcinoma
  JOURNAL   Eur J Med Res 27 (1), 164 (2022)
   PUBMED   36045400
  REMARK    GeneRIF: Identification of RFX5 as prognostic biomarker and
            associated with immune infiltration in stomach adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3570)
  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 3570)
  AUTHORS   Chen,D.B., Xie,X.W., Zhao,Y.J., Wang,X.Y., Liao,W.J., Chen,P.,
            Deng,K.J., Fei,R., Qin,W.Y., Wang,J.H., Wu,X., Shao,Q.X., Wei,L.
            and Chen,H.S.
  TITLE     RFX5 promotes the progression of hepatocellular carcinoma through
            transcriptional activation of KDM4A
  JOURNAL   Sci Rep 10 (1), 14538 (2020)
   PUBMED   32883983
  REMARK    GeneRIF: RFX5 promotes the progression of hepatocellular carcinoma
            through transcriptional activation of KDM4A.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3570)
  AUTHORS   Wang,N., Jia,Z.L. and Wu,Q.
  TITLE     RFX5 regulates gene expression of the Pcdhalpha cluster
  JOURNAL   Yi Chuan 42 (8), 760-774 (2020)
   PUBMED   32952112
  REMARK    GeneRIF: RFX5 regulates gene expression of the Pcdhalpha cluster.
REFERENCE   5  (bases 1 to 3570)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 3570)
  AUTHORS   Moreno,C.S., Rogers,E.M., Brown,J.A. and Boss,J.M.
  TITLE     Regulatory factor X, a bare lymphocyte syndrome transcription
            factor, is a multimeric phosphoprotein complex
  JOURNAL   J Immunol 158 (12), 5841-5848 (1997)
   PUBMED   9190936
REFERENCE   7  (bases 1 to 3570)
  AUTHORS   Scholl,T., Mahanta,S.K. and Strominger,J.L.
  TITLE     Specific complex formation between the type II bare lymphocyte
            syndrome-associated transactivators CIITA and RFX5
  JOURNAL   Proc Natl Acad Sci U S A 94 (12), 6330-6334 (1997)
   PUBMED   9177217
REFERENCE   8  (bases 1 to 3570)
  AUTHORS   Durand,B., Sperisen,P., Emery,P., Barras,E., Zufferey,M., Mach,B.
            and Reith,W.
  TITLE     RFXAP, a novel subunit of the RFX DNA binding complex is mutated in
            MHC class II deficiency
  JOURNAL   EMBO J 16 (5), 1045-1055 (1997)
   PUBMED   9118943
REFERENCE   9  (bases 1 to 3570)
  AUTHORS   Villard,J., Reith,W., Barras,E., Gos,A., Morris,M.A.,
            Antonarakis,S.E., Van den Elsen,P.J. and Mach,B.
  TITLE     Analysis of mutations and chromosomal localisation of the gene
            encoding RFX5, a novel transcription factor affected in major
            histocompatibility complex class II deficiency
  JOURNAL   Hum Mutat 10 (6), 430-435 (1997)
   PUBMED   9401005
REFERENCE   10 (bases 1 to 3570)
  AUTHORS   Steimle,V., Durand,B., Barras,E., Zufferey,M., Hadam,M.R., Mach,B.
            and Reith,W.
  TITLE     A novel DNA-binding regulatory factor is mutated in primary MHC
            class II deficiency (bare lymphocyte syndrome)
  JOURNAL   Genes Dev 9 (9), 1021-1032 (1995)
   PUBMED   7744245
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391069.11.
            
            On Jun 2, 2019 this sequence version replaced NM_001025603.1.
            
            Summary: A lack of MHC-II expression results in a severe
            immunodeficiency syndrome called MHC-II deficiency, or the bare
            lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation
            groups have been identified in B-cell lines established from
            patients with BLS. The molecular defects in complementation groups
            B, C, and D all lead to a deficiency in RFX, a nuclear protein
            complex that binds to the X box of MHC-II promoters. The lack of
            RFX binding activity in complementation group C results from
            mutations in the RFX5 gene encoding the 75-kD subunit of RFX
            (Steimle et al., 1995). RFX5 is the fifth member of the growing
            family of DNA-binding proteins sharing a novel and highly
            characteristic DNA-binding domain called the RFX motif. Multiple
            alternatively spliced transcript variants have been found but the
            full-length natures of only two have been determined. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR18074969.3243854.1,
                                           SRR14038197.1380099.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000452671.7/ ENSP00000389130.2
            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
            1-42                AL391069.11        84166-84207         c
            43-160              AL391069.11        83444-83561         c
            161-289             AL391069.11        83160-83288         c
            290-323             AL391069.11        82883-82916         c
            324-406             AL391069.11        82061-82143         c
            407-526             AL391069.11        81683-81802         c
            527-646             AL391069.11        81372-81491         c
            647-728             AL391069.11        81152-81233         c
            729-930             AL391069.11        80636-80837         c
            931-1031            AL391069.11        80297-80397         c
            1032-3570           AL391069.11        77595-80133         c
FEATURES             Location/Qualifiers
     source          1..3570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3570
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /note="regulatory factor X5"
                     /db_xref="GeneID:5993"
                     /db_xref="HGNC:HGNC:9986"
                     /db_xref="MIM:601863"
     exon            1..42
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            43..160
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            161..289
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..2024
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /note="isoform 1 is encoded by transcript variant 2;
                     DNA-binding protein RFX5; regulatory factor X 5;
                     regulatory factor X, 5 (influences HLA class II
                     expression)"
                     /codon_start=1
                     /product="DNA-binding protein RFX5 isoform 1"
                     /protein_id="NP_001020774.1"
                     /db_xref="CCDS:CCDS994.1"
                     /db_xref="GeneID:5993"
                     /db_xref="HGNC:HGNC:9986"
                     /db_xref="MIM:601863"
                     /translation="MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQN
                     KVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEE
                     HTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYC
                     YSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKR
                     SFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGG
                     AHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLP
                     RAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALP
                     GPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKA
                     AKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGE
                     GNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVS
                     VIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVLQSSLSQEHKDPKATPP"
     exon            290..323
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            324..406
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            407..526
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            527..646
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            647..728
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            729..930
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1031
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..3570
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2230..2235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /note="hexamer: AATAAA"
     polyA_site      2250
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
     regulatory      3550..3555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /note="hexamer: ATTAAA"
     polyA_site      3570
                     /gene="RFX5"
                     /gene_synonym="MHC2D3; MHC2D5"
                     /note="major polyA site"
ORIGIN      
        1 gccaggacct tggggctggg ctggagtgaa ggtggctacg agttttccag atttaggaga
       61 cttcagaaag gtggggcaga tagaatggag atggcaaaga tctctttggg catatatggg
      121 cctggcgaag taatggaata atttctaatt ttcggagaag ccctcatgcc gggatggcag
      181 aagatgagcc tgatgctaag agccccaaga ctgggggaag ggccccccca ggtggtgctg
      241 aggctgggga acctaccacc cttcttcaga ggctccgagg taccatttcc aaggccgtgc
      301 agaacaaagt agaggggatc ctgcaagatg tacagaaatt ttctgacaat gacaagctgt
      361 atctctacct tcagctcccc tcaggaccca ccactggaga caaaagctca gagccaagta
      421 cactgagcaa tgaggagtac atgtatgcct ataggtggat ccgcaaccac ctggaagagc
      481 acactgacac ctgtctgcca aagcaaagtg tttatgatgc ctatcggaag tactgtgaga
      541 gtcttgcctg ttgccgccca ctcagcacag ccaactttgg caagatcatc agagagatct
      601 tccctgacat caaagctcga aggcttggtg gccggggcca gtccaaatat tgctacagtg
      661 gcataaggag gaagaccttg gtgtctatgc cacccctgcc tggacttgac ctaaagggtt
      721 ctgagagtcc agaaatgggc ccagaagtaa ccccagcacc tcgagatgaa ctggtggagg
      781 cagcgtgtgc cctgacctgt gactgggcag agcggatcct gaaacggtcc ttcagttcca
      841 tcgttgaggt cgcccgcttc ctgctacagc agcatctcat ctctgcccga tctgcacatg
      901 cccatgtgct taaggccatg gggctcgctg aagaggacga acatgcacct cgggaacggt
      961 catctaaacc aaagaatggt ttagagaacc cagagggtgg agcccacaag aagccagaga
     1021 gactggccca gcctcctaag gatctggaag cccgaactgg ggccggtcct ctcgcacgtg
     1081 gagagcggaa gaagagtgta gttgagagct cggccccagg agccaataac ctgcaggtta
     1141 atgccctagt ggctcggctg cctctgctcc ttccccgggc ccctcgctca ctaattccgc
     1201 caatcccagt ctctccacct attctggccc ccaggctttc ttcaggtgcc ctgaaagtgg
     1261 ctacactgcc tctgtctagt agggccgggg cacccccagc agctgtgccc atcattaaca
     1321 tgatcttacc aactgttcct gctttgcctg gacctggacc tgggcctggg cgagctccac
     1381 ctgggggact cactcagccc cggggcacag agaacagaga ggtaggcata ggtggtgacc
     1441 aaggaccaca tgacaagggt gtcaagagga cagctgaagt acctgtgagt gaggccagtg
     1501 ggcaggctcc accagctaaa gcagcaaagc aggatataga ggatacagca agtgatgcca
     1561 aaaggaaacg ggggcgccct cgaaaaaagt caggtggaag tggggaaagg aattctaccc
     1621 ctctcaagtc agcagctgcc atggaatctg cccagtcctc aaggttacca tgggagacat
     1681 ggggctcagg aggggaaggc aactcagctg gaggggcaga gaggccaggg ccaatgggag
     1741 aggctgaaaa gggggcagta cttgcccagg gtcagggaga tggtactgtt tccaaaggag
     1801 gaaggggccc cggttcccag cataccaaag aagcagaaga taaaattccc ttggtcccct
     1861 caaaagtgag tgtcatcaag ggcagcagaa gccaaaagga ggcttttcct ttggcaaagg
     1921 gagaggtaga cactgcacca cagggtaata aagacttaaa ggagcatgtg cttcaaagtt
     1981 ccttatccca ggagcataaa gacccaaaag caacaccccc atgatacagg tctgtgggga
     2041 agagtgttta tatccctacg ttaactttgc ctagtagagg cccttctttg cacttgcttc
     2101 tcatttggct attcttttcc taaggaagtc cattctcctc tgtacagaca gctgagtcac
     2161 ccagtctact tagtacctgg ttgctgcctc tgaccttttc agcttgatac cctgggcttt
     2221 agtgtaacca ataaatctgt agtgacctta cctgtattcc ctgtgctatc ctgtgggaag
     2281 gtaggaatgg gctaagtatg atgaatatat aggttaggga tcttttggtt ttaaatcaca
     2341 gaaaacctaa ttcaaactgg cttaaaataa aaaggattta ttggttcatg taactagaaa
     2401 gtccataggt agtgctggct ccaggtgaag acttgaccca gtagttcagt atgtctctaa
     2461 ataccggact gacttttttc tcactgttgc atcttctgta ggaccattta agtctgggcc
     2521 acttaatggc tgccagcatt cctaagatta cacttttccc catttatgtc caatcagaaa
     2581 aagaaggcat ctttgtacca gaaatctcag caaaagccct aatattcaca ctgattaggc
     2641 ctgggtcaca tgtccaccct gaccaatcac tgtggccagg aggatgatac atgctaattt
     2701 gcttattcta tatcatggac aacacctttg gggaaaaggg tgggggtcag cctccccaaa
     2761 atcacatgga ttccccaagt ggaaactagg agcagggagt tgcttgggtg gccgctaaca
     2821 ccaggctact cttattttag cttgctaagt tgagatcagc tagacctgct ttcttttctc
     2881 ctcagtcttg catttccctc aatacaagct gtagcctctt tcctcgtttc tagtctcaga
     2941 aggaaggaga gggaagccat tctcctctag ggactcttca gtctcattta gatgatagtc
     3001 cctttttttc tacctccata ttagagatgg agctccttcc ttttcctgtt tcttaatttt
     3061 tgtcttctca ttcctgcttc cctctcaccc tattgccagt tccaccaact agagtgaaag
     3121 acttcctagc catttcatta aatctattct gtatccacca ggtggcagca tcttgtcata
     3181 cgtgtcagga cttaggactg cggggtttag gttagatgtc acggaaaaag ctagttctgt
     3241 ggtcaggcgg caccaatgag aaaggaatgc agaccctcca gatgtatcct tgggaaaagc
     3301 agtaaaccaa ctaatattta ttgaagacct actttgtcct ctacataggg tagcttctgt
     3361 cagggaatct tggttcttcc caagaaacac tgattttctt tcagggagac ttcatgtgtt
     3421 catttatttc caccacagca gattttaaga aattataata tgtaatattt gatatctata
     3481 aagagtatat ctaacgtgaa taaattatga agcatactaa tgagtaccta tgacccataa
     3541 cacatataca ttaaaacatt ttaaatacca
//
