LOCUS       NM_022047               2296 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens DEF6 guanine nucleotide exchange factor (DEF6), mRNA.
ACCESSION   NM_022047
VERSION     NM_022047.4
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 2296)
  AUTHORS   Fournier,B., Tusseau,M., Villard,M., Malcus,C., Chopin,E.,
            Martin,E., Jorge Cordeiro,D., Fabien,N., Fusaro,M., Gauthier,A.,
            Garnier,N., Goncalves,D., Lounis,S., Lenoir,C., Mathieu,A.L.,
            Moreews,M., Perret,M., Picard,C., Picard,C., Poitevin,F., Viel,S.,
            Bertrand,Y., Walzer,T., Belot,A. and Latour,S.
  TITLE     DEF6 deficiency, a mendelian susceptibility to EBV infection,
            lymphoma, and autoimmunity
  JOURNAL   J Allergy Clin Immunol 147 (2), 740-743 (2021)
   PUBMED   32562707
  REMARK    GeneRIF: DEF6 deficiency, a mendelian susceptibility to EBV
            infection, lymphoma, and autoimmunity.
REFERENCE   2  (bases 1 to 2296)
  AUTHORS   Zhu,Z.P., Lin,L.R., Lv,T.D., Xu,C.R., Cai,T.Y. and Lin,J.
  TITLE     High expression levels of DEF6 predicts a poor prognosis for
            patients with clear cell renal cell carcinoma
  JOURNAL   Oncol Rep 44 (5), 2056-2066 (2020)
   PUBMED   33000227
  REMARK    GeneRIF: High expression levels of DEF6 predicts a poor prognosis
            for patients with clear cell renal cell carcinoma.
REFERENCE   3  (bases 1 to 2296)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2296)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2296)
  AUTHORS   Serwas,N.K., Hoeger,B., Ardy,R.C., Stulz,S.V., Sui,Z., Memaran,N.,
            Meeths,M., Krolo,A., Yuce Petronczki,O., Pfajfer,L., Hou,T.Z.,
            Halliday,N., Santos-Valente,E., Kalinichenko,A., Kennedy,A.,
            Mace,E.M., Mukherjee,M., Tesi,B., Schrempf,A., Pickl,W.F.,
            Loizou,J.I., Kain,R., Bidmon-Fliegenschnee,B., Schickel,J.N.,
            Glauzy,S., Huemer,J., Garncarz,W., Salzer,E., Pierides,I.,
            Bilic,I., Thiel,J., Priftakis,P., Banerjee,P.P., Forster-Waldl,E.,
            Medgyesi,D., Huber,W.D., Orange,J.S., Meffre,E., Sansom,D.M.,
            Bryceson,Y.T., Altman,A. and Boztug,K.
  TITLE     Human DEF6 deficiency underlies an immunodeficiency syndrome with
            systemic autoimmunity and aberrant CTLA-4 homeostasis
  JOURNAL   Nat Commun 10 (1), 3106 (2019)
   PUBMED   31308374
  REMARK    Erratum:[Nat Commun. 2019 Oct 2;10(1):4555. doi:
            10.1038/s41467-019-12454-5.. PMID: 31578334]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2296)
  AUTHORS   Oka,T., Ihara,S. and Fukui,Y.
  TITLE     Cooperation of DEF6 with activated Rac in regulating cell
            morphology
  JOURNAL   J Biol Chem 282 (3), 2011-2018 (2007)
   PUBMED   17121847
  REMARK    GeneRIF: DEF6 not only activates Rho-family GTPases but also
            cooperates with activated Rac1 to exert its cellular function
REFERENCE   7  (bases 1 to 2296)
  AUTHORS   Mavrakis,K.J., McKinlay,K.J., Jones,P. and Sablitzky,F.
  TITLE     DEF6, a novel PH-DH-like domain protein, is an upstream activator
            of the Rho GTPases Rac1, Cdc42, and RhoA
  JOURNAL   Exp Cell Res 294 (2), 335-344 (2004)
   PUBMED   15023524
  REMARK    GeneRIF: DEF6, a novel PH-DH-like domain protein, is an upstream
            activator of the Rho GTPases Rac1, Cdc42, and RhoA.
REFERENCE   8  (bases 1 to 2296)
  AUTHORS   Gupta,S., Fanzo,J.C., Hu,C., Cox,D., Jang,S.Y., Lee,A.E.,
            Greenberg,S. and Pernis,A.B.
  TITLE     T cell receptor engagement leads to the recruitment of IBP, a novel
            guanine nucleotide exchange factor, to the immunological synapse
  JOURNAL   J Biol Chem 278 (44), 43541-43549 (2003)
   PUBMED   12923183
  REMARK    GeneRIF: IBP is a novel guanine nucleotide exchange factor and is
            recruited to the immunological synapse by T cell receptor
            engagement
REFERENCE   9  (bases 1 to 2296)
  AUTHORS   Gupta,S., Lee,A., Hu,C., Fanzo,J., Goldberg,I., Cattoretti,G. and
            Pernis,A.B.
  TITLE     Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly
            expressed in the immune system
  JOURNAL   Hum Immunol 64 (4), 389-401 (2003)
   PUBMED   12651066
  REMARK    GeneRIF: Molecular cloning of IBP, a guanine nucleotide exchange
            factor, which is highly expressed in the immune system.
REFERENCE   10 (bases 1 to 2296)
  AUTHORS   Tanaka,Y., Bi,K., Kitamura,R., Hong,S., Altman,Y., Matsumoto,A.,
            Tabata,H., Lebedeva,S., Bushway,P.J. and Altman,A.
  TITLE     SWAP-70-like adapter of T cells, an adapter protein that regulates
            early TCR-initiated signaling in Th2 lineage cells
  JOURNAL   Immunity 18 (3), 403-414 (2003)
   PUBMED   12648457
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY241694.1, AJ276095.1 and Z97832.11.
            
            On Nov 22, 2018 this sequence version replaced NM_022047.3.
            
            Summary: DEF6, or IBP, is a guanine nucleotide exchange factor
            (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly
            expressed in B and T cells (Gupta et al., 2003 [PubMed
            12923183]).[supplied by OMIM, Mar 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 :: AY241694.1, SRR1163658.502397.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316637.7/ ENSP00000319831.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-898               AY241694.1         1-898
            899-1935            AJ276095.1         860-1896
            1936-2193           AY241694.1         1936-2193
            2194-2194           Z97832.11          112777-112777
            2195-2296           AY241694.1         2195-2296
FEATURES             Location/Qualifiers
     source          1..2296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..2296
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /note="DEF6 guanine nucleotide exchange factor"
                     /db_xref="GeneID:50619"
                     /db_xref="HGNC:HGNC:2760"
                     /db_xref="MIM:610094"
     exon            1..135
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..1935
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /note="SWAP-70-like adaptor protein of T cells;
                     IRF4-binding protein; DEF-6"
                     /codon_start=1
                     /product="differentially expressed in FDCP 6 homolog"
                     /protein_id="NP_071330.3"
                     /db_xref="CCDS:CCDS4802.1"
                     /db_xref="GeneID:50619"
                     /db_xref="HGNC:HGNC:2760"
                     /db_xref="MIM:610094"
                     /translation="MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHI
                     PHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKN
                     YRADSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLG
                     ELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVL
                     KQGYLWKRGHLRRNWAERWFQLQPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDG
                     KRCMFCVKTANRTYEMSASDTRQRQEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQRE
                     QRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHREL
                     QQALEGQLREAEQARASMQAEMELKEEEAARQRQRIKELEEMQQRLQEALQLEVKARR
                     DEESVRIAQTRLLEEEEEKLKQLMQLKEEQERYIERAQQEKEELQQEMAQQSRSLQQA
                     QQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKRPVTSSS
                     FSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNSNEQQKSLNGGDEAPAPASTPQEDK
                     LDPAPEN"
     exon            136..276
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            277..462
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            463..699
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            700..846
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            847..955
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1254
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1421
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            1422..1620
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1711
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     exon            1712..2296
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2273..2278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /note="hexamer: AATAAA"
     polyA_site      2296
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /note="major polyA site"
ORIGIN      
        1 agtgtcagag ccgcccccag ccgggcgggc gcctcagcca tggccctgcg caaggaactg
       61 ctcaagtcca tctggtacgc ctttaccgcg ctggacgtgg agaagagtgg caaagtctcc
      121 aagtcccagc tcaaggtgct gtcccacaac ctgtacacgg tcctgcacat cccccatgac
      181 cccgtggccc tggaggaaca cttccgagat gatgatgacg gccctgtgtc cagccaggga
      241 tacatgccct acctcaacaa gtacatcctg gacaaggtgg aggagggggc ttttgttaaa
      301 gagcactttg atgagctgtg ctggacgctg acggccaaga agaactatcg ggcagatagc
      361 aacgggaaca gtatgctctc caatcaggat gccttccgcc tctggtgcct cttcaacttc
      421 ctgtctgagg acaagtaccc tctgatcatg gttcctgatg aggtggaata cctgctgaaa
      481 aaggtactca gcagcatgag cttggaggtg agcttgggtg agctggagga gcttctggcc
      541 caggaggccc aggtggccca gaccaccggg gggctcagcg tctggcagtt cctggagctc
      601 ttcaattcgg gccgctgcct gcggggcgtg ggccgggaca ccctcagcat ggccatccac
      661 gaggtctacc aggagctcat ccaagatgtc ctgaagcagg gctacctgtg gaagcgaggg
      721 cacctgagaa ggaactgggc cgaacgctgg ttccagctgc agcccagctg cctctgctac
      781 tttgggagtg aagagtgcaa agagaaaagg ggcattatcc cgctggatgc acactgctgc
      841 gtggaggtgc tgccagaccg cgacggaaag cgctgcatgt tctgtgtgaa gacagccaac
      901 cgcacgtatg agatgagcgc ctcagacacg cgccagcgcc aggagtggac agctgccatc
      961 cagatggcga tccggctgca ggccgagggg aagacgtccc tacacaagga cctgaagcag
     1021 aaacggcgcg agcagcggga gcagcgggag cggcgccggg cggccaagga agaggagctg
     1081 ctgcggctgc agcagctgca ggaggagaag gagcggaagc tgcaggagct ggagctgctg
     1141 caggaggcgc agcggcaggc cgagcggctg ctgcaggagg aggaggaacg gcgccgcagc
     1201 cagcaccgcg agctgcagca ggcgctcgag ggccaactgc gcgaggcgga gcaggcccgg
     1261 gcctccatgc aggctgagat ggagctgaag gaggaggagg ctgcccggca gcggcagcgc
     1321 atcaaggagc tggaggagat gcagcagcgg ttgcaggagg ccctgcaact agaggtgaaa
     1381 gctcggcgag atgaagaatc tgtgcgaatc gctcagacca gactgctgga agaggaggaa
     1441 gagaagctga agcagttgat gcagctgaag gaggagcagg agcgctacat cgaacgggcg
     1501 cagcaggaga aggaagagct gcagcaggag atggcacagc agagccgctc cctgcagcag
     1561 gcccagcagc agctggagga ggtgcggcag aaccggcaga gggctgacga ggatgtggag
     1621 gctgcccaga gaaaactgcg ccaggccagc accaacgtga aacactggaa tgtccagatg
     1681 aaccggctga tgcatccaat tgagcctgga gataagcgtc cggtcaccag cagctccttc
     1741 tcaggcttcc agccccctct gcttgcccac cgtgactcct ccctaaagcg cctgacccgc
     1801 tggggatccc agggcaacag gaccccctcg cccaacagca atgagcagca gaagtccctc
     1861 aatggtgggg atgaggctcc tgccccggct tccacccctc aggaagataa actggatcca
     1921 gcaccagaaa attagcctct cttagcccct tgttcttccc aatgtcatat ccaccaggac
     1981 ctggccacag ctggcctgtg ggtgatccca gctcttacta ggagagggag ctgaggtcct
     2041 ggtgccaggg gcccaggccc tccaaccata aacagtccag gatggaacct ggttcaccct
     2101 tcataccagc tccaagcccc agaccatggg agctgtctgg gatgttgatc cttgagaact
     2161 tggccctgtg ctttagaccc aaggacccga ttcttgggct aggaaagaga gaacaagcaa
     2221 gccggggcta cctgccccca ggtggccacc aagttgtgga agcacatttc taaataaaaa
     2281 ctgctcttag aatgaa
//
