LOCUS       NM_001403282            3099 bp    mRNA    linear   ROD 12-JUN-2024
DEFINITION  Mus musculus RAB guanine nucleotide exchange factor (GEF) 1
            (Rabgef1), transcript variant 7, mRNA.
ACCESSION   NM_001403282
VERSION     NM_001403282.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3099)
  AUTHORS   Chen,D., Chen,Y., Feng,J., Huang,W., Han,Z., Liu,Y., Lin,Q., Li,L.
            and Lin,Y.
  TITLE     Guanine nucleotide exchange factor RABGEF1 facilitates TNF-induced
            necroptosis by targeting cIAP1
  JOURNAL   Biochem Biophys Res Commun 703, 149669 (2024)
   PUBMED   38377943
  REMARK    GeneRIF: Guanine nucleotide exchange factor RABGEF1 facilitates
            TNF-induced necroptosis by targeting cIAP1.
REFERENCE   2  (bases 1 to 3099)
  AUTHORS   Hargrove-Grimes,P., Mondal,A.K., Gumerson,J., Nellissery,J.,
            Aponte,A.M., Gieser,L., Qian,H., Fariss,R.N., Bonifacino,J.S.,
            Li,T. and Swaroop,A.
  TITLE     Loss of endocytosis-associated RabGEF1 causes aberrant
            morphogenesis and altered autophagy in photoreceptors leading to
            retinal degeneration
  JOURNAL   PLoS Genet 16 (12), e1009259 (2020)
   PUBMED   33362196
  REMARK    GeneRIF: Loss of endocytosis-associated RabGEF1 causes aberrant
            morphogenesis and altered autophagy in photoreceptors leading to
            retinal degeneration.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3099)
  AUTHORS   El Abbas,S., Radermecker,C., Bai,Q., Beguin,C., Schyns,J.,
            Meunier,M., Pirottin,D., Desmet,C.J., Meuwis,M.A., Art,T.,
            Louis,E., Tam,S.Y., Tsai,M., Bureau,F., Galli,S.J. and Marichal,T.
  TITLE     Epithelial RABGEF1 deficiency promotes intestinal inflammation by
            dysregulating intrinsic MYD88-dependent innate signaling
  JOURNAL   Mucosal Immunol 13 (1), 96-109 (2020)
   PUBMED   31628426
  REMARK    GeneRIF: Epithelial RABGEF1 deficiency promotes intestinal
            inflammation by dysregulating intrinsic MYD88-dependent innate
            signaling.
REFERENCE   4  (bases 1 to 3099)
  AUTHORS   Marichal,T., Gaudenzio,N., El Abbas,S., Sibilano,R., Zurek,O.,
            Starkl,P., Reber,L.L., Pirottin,D., Kim,J., Chambon,P., Roers,A.,
            Antoine,N., Kawakami,Y., Kawakami,T., Bureau,F., Tam,S.Y., Tsai,M.
            and Galli,S.J.
  TITLE     Guanine nucleotide exchange factor RABGEF1 regulates
            keratinocyte-intrinsic signaling to maintain skin homeostasis
  JOURNAL   J Clin Invest 126 (12), 4497-4515 (2016)
   PUBMED   27820702
  REMARK    GeneRIF: findings reveal a key role for RABGEF1 in dampening
            keratinocyte-intrinsic MYD88 signaling and sustaining epidermal
            barrier function
REFERENCE   5  (bases 1 to 3099)
  AUTHORS   Lucitti,J.L., Sealock,R., Buckley,B.K., Zhang,H., Xiao,L.,
            Dudley,A.C. and Faber,J.E.
  TITLE     Variants of Rab GTPase-Effector Binding Protein-2 Cause Variation
            in the Collateral Circulation and Severity of Stroke
  JOURNAL   Stroke 47 (12), 3022-3031 (2016)
   PUBMED   27811335
REFERENCE   6  (bases 1 to 3099)
  AUTHORS   Blackshaw,S., Harpavat,S., Trimarchi,J., Cai,L., Huang,H.,
            Kuo,W.P., Weber,G., Lee,K., Fraioli,R.E., Cho,S.H., Yung,R.,
            Asch,E., Ohno-Machado,L., Wong,W.H. and Cepko,C.L.
  TITLE     Genomic analysis of mouse retinal development
  JOURNAL   PLoS Biol 2 (9), E247 (2004)
   PUBMED   15226823
REFERENCE   7  (bases 1 to 3099)
  AUTHORS   Tam,S.Y., Tsai,M., Snouwaert,J.N., Kalesnikoff,J., Scherrer,D.,
            Nakae,S., Chatterjea,D., Bouley,D.M. and Galli,S.J.
  TITLE     RabGEF1 is a negative regulator of mast cell activation and skin
            inflammation
  JOURNAL   Nat Immunol 5 (8), 844-852 (2004)
   PUBMED   15235600
  REMARK    GeneRIF: RabGEF1 is a negative regulator of Fc epsilon RI-dependent
            mast cell activation, and a lack of RabGEF1 results in the
            development of skin inflammation in vivo.
REFERENCE   8  (bases 1 to 3099)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   9  (bases 1 to 3099)
  AUTHORS   Traver,S., Bidot,C., Spassky,N., Baltauss,T., De Tand,M.F.,
            Thomas,J.L., Zalc,B., Janoueix-Lerosey,I. and Gunzburg,J.D.
  TITLE     RGS14 is a novel Rap effector that preferentially regulates the
            GTPase activity of galphao
  JOURNAL   Biochem J 350 Pt 1 (Pt 1), 19-29 (2000)
   PUBMED   10926822
REFERENCE   10 (bases 1 to 3099)
  AUTHORS   Janoueix-Lerosey,I., Jollivet,F., Camonis,J., Marche,P.N. and
            Goud,B.
  TITLE     Two-hybrid system screen with the small GTP-binding protein Rab6.
            Identification of a novel mouse GDP dissociation inhibitor isoform
            and two other potential partners of Rab6
  JOURNAL   J Biol Chem 270 (24), 14801-14808 (1995)
   PUBMED   7782346
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122339.3 and AC113029.23.
            
            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 :: SRR7345562.5088902.1,
                                           SRR12282455.13841127.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN01164131
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-508               AC122339.3         28305-28812         c
            509-694             AC122339.3         13056-13241         c
            695-861             AC122339.3         9599-9765           c
            862-1031            AC122339.3         2526-2695           c
            1032-1113           AC113029.23        28459-28540
            1114-1246           AC113029.23        30136-30268
            1247-1338           AC113029.23        31874-31965
            1339-1595           AC113029.23        33312-33568
            1596-3099           AC113029.23        34284-35787
FEATURES             Location/Qualifiers
     source          1..3099
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 68.78 cM"
     gene            1..3099
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /note="RAB guanine nucleotide exchange factor (GEF) 1"
                     /db_xref="GeneID:56715"
                     /db_xref="MGI:MGI:1929459"
     exon            1..508
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            509..694
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     CDS             516..1994
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /note="isoform c is encoded by transcript variant 7; Ras
                     negative regulator Rabex-5/Rin2; rab5 GDP/GTP exchange
                     factor; rabex-5; Rab5 exchange factor"
                     /codon_start=1
                     /product="rab5 GDP/GTP exchange factor isoform c"
                     /protein_id="NP_001390211.1"
                     /db_xref="GeneID:56715"
                     /db_xref="MGI:MGI:1929459"
                     /translation="MSLKSERRGIHVDQSELLCKKGCGYYGNPAWQGFCSKCWREEYH
                     KARQRQIQEDWELAERLQREEEEAFASSQSSQGAQSLTFSKFEEKKTNEKTRKVTTVK
                     KFFSASSRAGSKKAEIQEAKAPSPSINRQTSIETDRVTKEFIDFLKTFHKTGQEVYKQ
                     TKMFLEAMPYKRDLSIEEQSECTQDFYQNVAERMQTRGKVPPEKVEKIMDQIEKHIMT
                     RLYKFVFCPETTDDEKKDLAIQKRIRALHWVTPQMLCVPVNEEIPEVSDMVVKAITDI
                     IEMDSKRVPRDKLACITRCSKHIFNAIKITKNEPASADDFLPTLIYIVLKGNPPRLQS
                     NIQYITRFCNPSRLMTGEDGYYFTNLCCAVAFIEKLDAQSLNLSQEDFDRYMSGQTSP
                     RKQESESWPPEACLGVKQMYKNLDLLSQLNERQERIMNEAKKLEKDLIDWTDGIAKEV
                     QDIVEKYPLEIKPPNQPLAAIDSENVENDKLPPPLQPQVYAG"
     exon            695..861
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1031
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1113
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1246
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1338
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1595
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..3099
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3057..3062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /note="hexamer: AATAAA"
     polyA_site      3099
                     /gene="Rabgef1"
                     /gene_synonym="Rab5ef; Rabex5; Rin2"
                     /note="major polyA site"
ORIGIN      
        1 agggagccga gtgactgaag gggcgctggg agcggcggtc ggacgccggc ggagccgcgg
       61 agcaggttcg gagggacggg ggctccggag gcgcgttccc acacggagcg gggcggcggc
      121 ggcggtgtcc ggccgcgcgc tgaccggggc cgctccgttc cgcctctcag ccgggagggc
      181 gggcgggcgc atagggccag gccgccggag ctctgctgct gctctcggcc tctccagctc
      241 ggccgagttc ttcccagctc ggcgggactc gggctcccgg gaggacacgc tccccggtcg
      301 tcggctgccg ctccgatcct gtccgagtcc ggagttgtgg ttgcagccgg gcgggtccca
      361 tccggagccc gcgtgggtcc cggggctggt gcggctgctg tggcgcgggg ttttgaatac
      421 tcgtcccagg tgctagaggc caaggttatg ggtgtctctg aatgagaagt cctgaagctg
      481 aggcaggagg attgccgcga gttttgagga agaagatgag cctgaagtcc gaacgcaggg
      541 gaattcatgt ggatcaatct gagctcctgt gcaagaaagg atgcggttac tacggcaacc
      601 ctgcctggca gggtttctgc tccaagtgct ggagggagga gtaccacaag gcccggcaga
      661 ggcagatcca agaggactgg gaactggcag aacgacttca gcgggaggag gaagaggcct
      721 tcgcgagcag ccagagcagc caaggagccc agtccctcac cttctccaag ttcgaggaga
      781 agaagaccaa tgagaaaacc cgaaaagtca ccacagtgaa gaagttcttc agcgcctctt
      841 ccagagctgg atccaagaag gcagaaattc aggaagccaa agctcccagt ccctccataa
      901 accggcaaac cagcattgag acggaccgag tgactaagga gttcatagac tttctcaaga
      961 ccttccacaa gacaggccaa gaagtctata aacagacgaa gatgtttttg gaagcaatgc
     1021 cttataaaag ggatttaagc atcgaggaac agtcagaatg tactcaggac ttttaccaaa
     1081 atgtggctga aagaatgcag acccgtggga aagtgcctcc agagaaagtg gagaagataa
     1141 tggatcagat cgaaaagcac atcatgacgc gtctctataa atttgtgttc tgcccagaga
     1201 ctactgatga tgagaagaaa gatctcgcca ttcaaaaaag aatcagggcc ctgcactggg
     1261 taacgcctca gatgctctgt gtccctgtca atgaggaaat ccctgaagtg tccgacatgg
     1321 tggtgaaagc gatcacagac atcattgaga tggactcaaa gcgtgtgcct cgggacaagc
     1381 tggcctgcat caccaggtgc agcaagcaca tcttcaatgc catcaagatc accaagaatg
     1441 agccagcctc tgccgatgac ttcctgccca ccctgatcta catcgtcctg aagggcaacc
     1501 cccctcgcct gcagtccaac atccagtaca tcactcgctt ctgcaacccc agccggctca
     1561 tgacgggcga ggatggctac tacttcacca acctgtgctg tgctgtggct ttcattgaga
     1621 aattagacgc ccagtctttg aatttaagtc aggaggattt tgaccggtac atgtctggcc
     1681 agacatcccc caggaagcag gagtctgaga gttggccccc ggaggcctgc ttaggtgtga
     1741 agcaaatgta taagaacttg gacctcctgt ctcagttgaa tgaacggcaa gaaaggatca
     1801 tgaacgaagc caagaaactt gaaaaagact taatagactg gacagacggg attgccaagg
     1861 aagttcaaga cattgttgag aaatacccac tggagattaa gcccccgaac caacccttag
     1921 cagccatcga ctctgagaat gtggagaacg acaagctccc tccccctctg cagcctcagg
     1981 tgtacgcagg gtgacggccc tgtttatttg gggctggttt ctgggagctg ctgcgttcca
     2041 ctgttcaggt ccggaatatg aactgactgc ttaaagtttc aaagtgtttt taggtacaga
     2101 tttagggatt ggttattctc ttttttcttc tctagcgggg aagcttagta aataataatg
     2161 tactatttat ttgagctggt ggagtaggtt tgtgtgaatt ctgtgtcgct cttttatgtc
     2221 ctgcctgatt tcccatgggc ttcctctgtg tagacactgt tgttggtttt gggcaaacac
     2281 tgccttttaa aggataaaac agatgctata aagtctatgt tgaaatgaat tctatgttcc
     2341 cacactcccc cagtgtgaaa taattttgta attgtaaaga tagaagataa tgttaataag
     2401 taaatatgta aaattgtaaa tatgtaaaaa aaaaacacat agggctgggg aggggtgtct
     2461 cagcgtgcat ggcatttcat gagctgatgt tttttttttt tttttaggtg aaaatgaaat
     2521 ttattgaatg tttgccttta gcgccatttt atatggtttg tcccactaaa aagaatctaa
     2581 agaatttgag ctttaacagg acattggcac taactgccct aacttgagat tctttctggt
     2641 acatgtgaag aagttgtaac gccaactttt aggtcacata cagaattatt ctgggaccct
     2701 ggggtggtgg ctcagtcagt aaagtgctct ccatactgat gtgaggacct gagctccctg
     2761 tccggccccg ggtgaaaagc tgggcatggt gacactcact tgggacagct ctgctgggag
     2821 ccagagttcc tggggcaggg ggcatcgctg tcaatgagac acctcgtgta agcaaacaaa
     2881 tcaagatgga cggctcctga gaaatgatag ccaaggatgc cctctggcct ccacatggcc
     2941 acatatgtgc ctgtgtacct ctacatacat gtgtagcaca cacacatgaa cacacagttg
     3001 ctgattagta cagttgactt ggaactgtgc ttgcagcttc ctttccctgt ttatccaata
     3061 aacttccccc acagtgctgt ggggctattg cctttttta
//
