LOCUS       NM_152545               2941 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RasGEF domain family member 1B (RASGEF1B), transcript
            variant 1, mRNA.
ACCESSION   NM_152545
VERSION     NM_152545.3
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 2941)
  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 2941)
  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 2941)
  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 2941)
  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 2941)
  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 2941)
  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 2941)
  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 2941)
  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 2941)
  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
            AK056257.1 and AC006287.1.
            
            On Jun 2, 2019 this sequence version replaced NM_152545.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AK056257.1, SRR14038194.1022407.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264400.7/ ENSP00000264400.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1656              AK056257.1         1-1656
            1657-2941           AC006287.1         8774-10058
FEATURES             Location/Qualifiers
     source          1..2941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.21"
     gene            1..2941
                     /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..1566
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ras-GEF domain-containing family member 1B; GPI gamma-4"
                     /codon_start=1
                     /product="ras-GEF domain-containing family member 1B
                     isoform 1"
                     /protein_id="NP_689758.1"
                     /db_xref="CCDS:CCDS34022.1"
                     /db_xref="GeneID:153020"
                     /db_xref="HGNC:HGNC:24881"
                     /db_xref="MIM:614532"
                     /translation="MPQTPPFSAMFDSSGYNRNLYQSAEDSCGGLYYHDNNLLSGSLE
                     ALIQHLVPNVDYYPDRTYIFTFLLSSRLFMHPYELMAKVCHLCVEHQRLSDPDSDKNQ
                     MRKIAPKILQLLTEWTETFPYDFRDERMMRNLKDLAHRIASGEEQTYRKNVQQMMQCL
                     IRKLAALSQYEEVLAKISSTSTDRLTVLKTKPQSIQRDIITVCNDPYTLAQQLTHIEL
                     ERLNYIGPEEFVQAFVQKDPLDNDKSCYSERKKTRNLEAYVEWFNRLSYLVATEICMP
                     VKKKHRARMIEYFIDVARECFNIGNFNSLMAIISGMNMSPVSRLKKTWAKVKTAKFDI
                     LEHQMDPSSNFYNYRTALRGAAQRSLTAHSSREKIVIPFFSLLIKDIYFLNEGCANRL
                     PNGHVNFEKFWELAKQVSEFMTWKQVECPFERDRKILQYLLTVPVFSEDALYLASYES
                     EGPENHIEKDRWKSLRSSLLGRV"
     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..798
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            799..873
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            874..969
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1072
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1152
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1248
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1344
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1468
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1541
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..2941
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2915..2920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RASGEF1B"
                     /gene_synonym="GPIG4"
                     /note="hexamer: AATATA"
     polyA_site      2941
                     /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 agcagacata cagaaagaat
      601 gtccagcaaa tgatgcagtg tctgatccgc aagcttgctg cgctcagcca gtacgaagaa
      661 gtcctggcaa aaatcagctc cacatccaca gatcggctca cagttctcaa gaccaagcca
      721 cagtctatac aaagggatat cattactgtc tgcaacgacc cttacacgtt ggcccagcag
      781 ctgactcata tagagctgga gaggctcaat tatattgggc cagaagaatt tgttcaggcg
      841 ttcgtgcaga aggacccttt ggataatgac aagagttgct acagtgaacg gaagaaaaca
      901 cgaaacttag aagcttacgt ggaatggttt aatcgcctca gctacttggt tgctacagaa
      961 atctgtatgc ctgttaagaa aaaacaccga gcaagaatga ttgagtattt cattgacgta
     1021 gctcgggagt gttttaacat tggcaacttc aactccttga tggcgataat ctctggtatg
     1081 aatatgagcc cagtctctcg actaaaaaaa acttgggcca aagtgaagac tgcaaaattt
     1141 gacattcttg agcatcagat ggacccttca agcaatttct ataattatcg aacagctctt
     1201 cgtggggcag cacaaaggtc tttaactgct catagtagta gagaaaagat tgtgatacca
     1261 ttcttcagtc tcttaatcaa agatatttat ttcctcaatg agggttgtgc caaccgcctt
     1321 cccaatggcc atgtcaattt tgagaaattt tgggaactgg ccaaacaagt gagtgaattt
     1381 atgacatgga aacaagtgga gtgtccattt gagagggacc ggaagatctt gcagtatctg
     1441 ctcacagtac cagtcttcag tgaagatgct ctctacttgg cttcttatga gagtgaagga
     1501 cctgaaaatc atatagagaa agacagatgg aagtctttaa ggtcgagcct cttaggcaga
     1561 gtttaacaca tgggagctgc ctgcctgctg ctgctgctgc ttcctgcaga tcatggaggg
     1621 gctggccttt gttttctggc atctcgtacc acgaacactc atgaagaccc tgcagtcatt
     1681 ggagcacccg ggtcagcaaa gcacacaagc tcactcaaga ccagatggag aacttatttc
     1741 ctgcagctga cagatagact cagattttgt gagactgaaa tgttcactga agacacttga
     1801 gaaagaatcc tctaaaaatc ccggctctgc acattattca tctcctggaa tttccatgtg
     1861 aatcacagct ctgcacctgg atggagtttt cttttgtgtg tgtgtgtttt ttttaatttg
     1921 gttgaacatt tgctgctaat gggacttgcc cagctgagtg ctggctctga ggaagcccac
     1981 gtttcttttg ttaacttaaa tgaagaaagg agtggaggga ggggatctaa aacccccccg
     2041 tttagatccc aaaccttagc tcaatcagta ttgccagaga ggggtaagac tggttggaag
     2101 ctgactgcag actttgtttc cccttagtat gtgctgtgtt gtaaattttt ctcctccctc
     2161 ctcctacaag gttttgagtt ggctgctggt tagcaaactc ctttttaccc atataagtta
     2221 tttaatataa taatgaagct caacactgtg gtaggaaaat agccactaga aagaaaataa
     2281 aaagcagagt ttgtcattgg actgcttaac atgctagaag gacttttttt tttttttttt
     2341 tttttttttt ttgctcttct gagctgttta caactgacca ctgtgttcca cagatgtatt
     2401 tttcaatagc tttttgttac ttagttttcc atgatgcctg ttatttttct cttgtaaatt
     2461 taaatgagct gactttaagg atcttgggaa aacccatggc ataattacaa ttttcttttt
     2521 aatcgacttt tcattacttt tgggagtctg ttggtaacta aagatgtcaa caaagaataa
     2581 attggagaag ttacctgtcc ccactatagc agtaaacaaa acagatgaaa aacaccttgc
     2641 tgttaactca atggttgatc taattgtgaa atcgttcacc ttgttaaaca tctaagtaag
     2701 tctgtagtcg ctctgcaaac agccattata tttatttact ctagaagaaa ctgtagagta
     2761 gtaattcgtg ctaatgagaa aaacaaaata ccatgttcaa aacagatgta tttgaaaact
     2821 taatgacatg gttccaaaaa ctagagcatg tatgtatgct gtgcatcatc tcagcagacc
     2881 taaaatatcc ccaagttgtc cctttacagc catcaatata ttttacactc tgcggccagg
     2941 a
//
