LOCUS       NM_001300735            2938 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RasGEF domain family member 1B (RASGEF1B), transcript
            variant 2, mRNA.
ACCESSION   NM_001300735 XM_005262776
VERSION     NM_001300735.2
KEYWORDS    RefSeq.
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 2938)
  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   2  (bases 1 to 2938)
  AUTHORS   Rimpela,J.M., Niiranen,T., Jula,A., Porsti,I.H., Tikkakoski,A.,
            Havulinna,A., Lehtimaki,T., Salomaa,V., Kontula,K.K. and
            Hiltunen,T.P.
  TITLE     Genome-wide association study of white-coat effect in hypertensive
            patients
  JOURNAL   Blood Press 28 (4), 239-249 (2019)
   PUBMED   31044621
  REMARK    GeneRIF: study provides evidence for two novel candidate genes,
            SPG7 and RASGEF1B, associating with white coat effect
REFERENCE   3  (bases 1 to 2938)
  AUTHORS   Ng,W.L., Marinov,G.K., Liau,E.S., Lam,Y.L., Lim,Y.Y. and Ea,C.K.
  TITLE     Inducible RasGEF1B circular RNA is a positive regulator of ICAM-1
            in the TLR4/LPS pathway
  JOURNAL   RNA Biol 13 (9), 861-871 (2016)
   PUBMED   27362560
  REMARK    GeneRIF: We show that knockdown of the expression of mcircRasGEF1B
            reduces LPS-induced ICAM-1 expression. Additionally, we demonstrate
            that mcircRasGEF1B regulates the stability of mature ICAM-1 mRNAs.
REFERENCE   4  (bases 1 to 2938)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   5  (bases 1 to 2938)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   6  (bases 1 to 2938)
  AUTHORS   Lipska,B.S., Brzeskwiniewicz,M., Wierzba,J., Morzuchi,L.,
            Piotrowski,A. and Limon,J.
  TITLE     8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy
            with cognitive impairment, short stature, hearing loss, skeletal
            abnormalities and facial dysmorphism
  JOURNAL   Genet Couns 22 (4), 353-363 (2011)
   PUBMED   22303795
  REMARK    GeneRIF: As an addition to PRKG2 and RASGEFIB genes, we propose to
            include BMP3 gene as the principal determinant of the observed
            common phenotype.
            Review article
REFERENCE   7  (bases 1 to 2938)
  AUTHORS   Yaman,E., Gasper,R., Koerner,C., Wittinghofer,A. and Tazebay,U.H.
  TITLE     RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that
            discriminate between Rap GTP-binding proteins and mediate
            Rap2-specific nucleotide exchange
  JOURNAL   FEBS J 276 (16), 4607-4616 (2009)
   PUBMED   19645719
  REMARK    GeneRIF: Mutation of the Ser39 in Rap1 changed the specificity and
            allowed the nucleotide exchange of Rap1(S39F) to be stimulated by
            RasGEF1B
REFERENCE   8  (bases 1 to 2938)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   9  (bases 1 to 2938)
  AUTHORS   Ferreira,L.R., Abrantes,E.F., Rodrigues,C.V., Caetano,B.,
            Cerqueira,G.C., Salim,A.C., Reis,L.F. and Gazzinelli,R.T.
  TITLE     Identification and characterization of a novel mouse gene encoding
            a Ras-associated guanine nucleotide exchange factor: expression in
            macrophages and myocarditis elicited by Trypanosoma cruzi parasites
  JOURNAL   J Leukoc Biol 72 (6), 1215-1227 (2002)
   PUBMED   12488504
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR002387.1, BC121003.1 and AC006287.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001300735.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the central coding region, compared to variant 1.
            The encoded isoform (2) is shorter, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2363572.1,
                                           SRR14038192.3362327.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                DR002387.1         28-91
            65-1882             BC121003.1         1-1818
            1883-2938           AC006287.1         9003-10058
FEATURES             Location/Qualifiers
     source          1..2938
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.21"
     gene            1..2938
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /note="RasGEF domain family member 1B"
                     /db_xref="GeneID:153020"
                     /db_xref="HGNC:HGNC:24881"
                     /db_xref="MIM:614532"
     exon            1..138
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            139..321
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1563
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ras-GEF domain-containing family member 1B; GPI gamma-4"
                     /codon_start=1
                     /product="ras-GEF domain-containing family member 1B
                     isoform 2"
                     /protein_id="NP_001287664.1"
                     /db_xref="CCDS:CCDS75152.1"
                     /db_xref="GeneID:153020"
                     /db_xref="HGNC:HGNC:24881"
                     /db_xref="MIM:614532"
                     /translation="MPQTPPFSAMFDSSGYNRNLYQSAEDSCGGLYYHDNNLLSGSLE
                     ALIQHLVPNVDYYPDRTYIFTFLLSSRLFMHPYELMAKVCHLCVEHQRLSDPDSDKNQ
                     MRKIAPKILQLLTEWTETFPYDFRDERMMRNLKDLAHRIASGEETYRKNVQQMMQCLI
                     RKLAALSQYEEVLAKISSTSTDRLTVLKTKPQSIQRDIITVCNDPYTLAQQLTHIELE
                     RLNYIGPEEFVQAFVQKDPLDNDKSCYSERKKTRNLEAYVEWFNRLSYLVATEICMPV
                     KKKHRARMIEYFIDVARECFNIGNFNSLMAIISGMNMSPVSRLKKTWAKVKTAKFDIL
                     EHQMDPSSNFYNYRTALRGAAQRSLTAHSSREKIVIPFFSLLIKDIYFLNEGCANRLP
                     NGHVNFEKFWELAKQVSEFMTWKQVECPFERDRKILQYLLTVPVFSEDALYLASYESE
                     GPENHIEKDRWKSLRSSLLGRV"
     exon            322..444
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            445..582
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            583..795
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            796..870
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            871..966
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1069
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1149
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1245
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1341
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1465
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1538
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..2938
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2912..2917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /note="hexamer: AATATA"
     polyA_site      2938
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /note="major polyA site"
ORIGIN      
        1 agtataaaca aggaacccga ctggttagac agattttgtt tttcttcttc ccgcgcgctt
       61 tagctccctg tcctttggtc gcatttgtgg gcgcgcggca cgcagccggg aggccgagga
      121 ctcggagttc acctgcagga aagtatgcct cagactcctc ccttttcagc aatgtttgac
      181 agcagtggtt acaatcgaaa cctctatcag tctgcagagg acagctgtgg agggttgtat
      241 taccatgaca acaacctcct ctctggatcc ctggaagcac tcatccagca cttagtacct
      301 aatgtggatt actatccaga tagaacatac atatttacct tcctactcag ttctcggtta
      361 tttatgcatc cgtatgagct aatggccaaa gtttgccact tatgtgttga gcaccagaga
      421 ctaagtgatc ctgatagtga taagaaccag atgagaaaaa ttgcacccaa aatccttcaa
      481 ctcctcacgg aatggacgga aacatttccc tatgattttc gggatgaaag aatgatgaga
      541 aacttaaaag atctggctca ccgaatagcc agtggcgaag agacatacag aaagaatgtc
      601 cagcaaatga tgcagtgtct gatccgcaag cttgctgcgc tcagccagta cgaagaagtc
      661 ctggcaaaaa tcagctccac atccacagat cggctcacag ttctcaagac caagccacag
      721 tctatacaaa gggatatcat tactgtctgc aacgaccctt acacgttggc ccagcagctg
      781 actcatatag agctggagag gctcaattat attgggccag aagaatttgt tcaggcgttc
      841 gtgcagaagg accctttgga taatgacaag agttgctaca gtgaacggaa gaaaacacga
      901 aacttagaag cttacgtgga atggtttaat cgcctcagct acttggttgc tacagaaatc
      961 tgtatgcctg ttaagaaaaa acaccgagca agaatgattg agtatttcat tgacgtagct
     1021 cgggagtgtt ttaacattgg caacttcaac tccttgatgg cgataatctc tggtatgaat
     1081 atgagcccag tctctcgact aaaaaaaact tgggccaaag tgaagactgc aaaatttgac
     1141 attcttgagc atcagatgga cccttcaagc aatttctata attatcgaac agctcttcgt
     1201 ggggcagcac aaaggtcttt aactgctcat agtagtagag aaaagattgt gataccattc
     1261 ttcagtctct taatcaaaga tatttatttc ctcaatgagg gttgtgccaa ccgccttccc
     1321 aatggccatg tcaattttga gaaattttgg gaactggcca aacaagtgag tgaatttatg
     1381 acatggaaac aagtggagtg tccatttgag agggaccgga agatcttgca gtatctgctc
     1441 acagtaccag tcttcagtga agatgctctc tacttggctt cttatgagag tgaaggacct
     1501 gaaaatcata tagagaaaga cagatggaag tctttaaggt cgagcctctt aggcagagtt
     1561 taacacatgg gagctgcctg cctgctgctg ctgctgcttc ctgcagatca tggaggggct
     1621 ggcctttgtt ttctggcatc tcgtaccacg aacactcatg aagaccctgc agtcattgga
     1681 gcacccgggt cagcaaagca cacaagctca ctcaagacca gatggagaac ttatttcctg
     1741 cagctgacag atagactcag attttgtgag actgaaatgt tcactgaaga cacttgagaa
     1801 agaatcctct aaaaatcccg gctctgcaca ttattcatct cctggaattt ccatgtgaat
     1861 cacagctctg cacctggatg gagttttctt ttgtgtgtgt gtgttttttt taatttggtt
     1921 gaacatttgc tgctaatggg acttgcccag ctgagtgctg gctctgagga agcccacgtt
     1981 tcttttgtta acttaaatga agaaaggagt ggagggaggg gatctaaaac ccccccgttt
     2041 agatcccaaa ccttagctca atcagtattg ccagagaggg gtaagactgg ttggaagctg
     2101 actgcagact ttgtttcccc ttagtatgtg ctgtgttgta aatttttctc ctccctcctc
     2161 ctacaaggtt ttgagttggc tgctggttag caaactcctt tttacccata taagttattt
     2221 aatataataa tgaagctcaa cactgtggta ggaaaatagc cactagaaag aaaataaaaa
     2281 gcagagtttg tcattggact gcttaacatg ctagaaggac tttttttttt tttttttttt
     2341 tttttttttg ctcttctgag ctgtttacaa ctgaccactg tgttccacag atgtattttt
     2401 caatagcttt ttgttactta gttttccatg atgcctgtta tttttctctt gtaaatttaa
     2461 atgagctgac tttaaggatc ttgggaaaac ccatggcata attacaattt tctttttaat
     2521 cgacttttca ttacttttgg gagtctgttg gtaactaaag atgtcaacaa agaataaatt
     2581 ggagaagtta cctgtcccca ctatagcagt aaacaaaaca gatgaaaaac accttgctgt
     2641 taactcaatg gttgatctaa ttgtgaaatc gttcaccttg ttaaacatct aagtaagtct
     2701 gtagtcgctc tgcaaacagc cattatattt atttactcta gaagaaactg tagagtagta
     2761 attcgtgcta atgagaaaaa caaaatacca tgttcaaaac agatgtattt gaaaacttaa
     2821 tgacatggtt ccaaaaacta gagcatgtat gtatgctgtg catcatctca gcagacctaa
     2881 aatatcccca agttgtccct ttacagccat caatatattt tacactctgc ggccagga
//
