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    RAPGEF1 Rap guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

    Gene ID: 2889, updated on 10-Dec-2024

    Summary

    Official Symbol
    RAPGEF1provided by HGNC
    Official Full Name
    Rap guanine nucleotide exchange factor 1provided by HGNC
    Primary source
    HGNC:HGNC:4568
    See related
    Ensembl:ENSG00000107263 MIM:600303; AllianceGenome:HGNC:4568
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3G; GRF2
    Summary
    This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAPGEF1 in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131576775..131740076, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143789743..143952984, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134452162..134615463, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134403902-134405101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134405807-134406720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20421 Neighboring gene NANOG hESC enhancer GRCh37_chr9:134426802-134427303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134443475-134443974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29193 Neighboring gene uridine-cytidine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134464737-134465236 Neighboring gene proline rich transmembrane protein 1B Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134481176-134481676 Neighboring gene Sharpr-MPRA regulatory region 10461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134493979-134494945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134499860-134500360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134504170-134504919 Neighboring gene Sharpr-MPRA regulatory region 12258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134530670-134531170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134534752-134535285 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134535286-134535818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29207 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134558729-134559329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134584807-134585588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134587455-134587956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134587957-134588456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134598083-134598582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29212 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20422 Neighboring gene Sharpr-MPRA regulatory region 1247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29213 Neighboring gene Sharpr-MPRA regulatory region 10210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29214 Neighboring gene RNA, 7SL, cytoplasmic 328, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134630482-134631089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134669412-134669916 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134674709-134674899 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134680399-134680898 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134682767-134683702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134689077-134689577 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134692257-134692758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134703449-134703948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134713047-134713585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134730057-134731006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134731007-134731954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134752115-134752615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134764767-134765298 Neighboring gene Sharpr-MPRA regulatory region 801 Neighboring gene mediator complex subunit 27 Neighboring gene NANOG hESC enhancer GRCh37_chr9:134840462-134840963 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134843516-134843723 Neighboring gene MPRA-validated peak7336 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134882251-134882943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134915689-134916190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134916191-134916690 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:134917173-134918372 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:134951028-134952227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29216

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of Rap guanine nucleotide exchange factor 1 (RAPGEF1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • DKFZp781P1719

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in early endosome PubMed 
    located_in intracellular membrane-bounded organelle  
    is_active_in plasma membrane  

    General protein information

    Preferred Names
    rap guanine nucleotide exchange factor 1
    Names
    CRK SH3-binding GNRP
    Rap guanine nucleotide exchange factor (GEF) 1
    guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050622.2 RefSeqGene

      Range
      5000..168301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304275.2NP_001291204.1  rap guanine nucleotide exchange factor 1 isoform c

      See identical proteins and their annotated locations for NP_001291204.1

      Status: REVIEWED

      Source sequence(s)
      AL160271, AL160276
      Consensus CDS
      CCDS78450.1
      UniProtKB/Swiss-Prot
      Q13905
      Related
      ENSP00000361269.1, ENST00000372195.5
      Conserved Domains (2) summary
      smart00147
      Location:8531082
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:705846
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    2. NM_001377935.1NP_001364864.1  rap guanine nucleotide exchange factor 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL160271, AL160276
      Consensus CDS
      CCDS94521.1
      UniProtKB/TrEMBL
      A0A804HL87
      Related
      ENSP00000508246.1, ENST00000683357.1
      Conserved Domains (3) summary
      smart00147
      Location:10221251
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:8741015
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      PHA03247
      Location:227824
      PHA03247; large tegument protein UL36; Provisional
    3. NM_001377936.1NP_001364865.1  rap guanine nucleotide exchange factor 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL160276
      UniProtKB/TrEMBL
      A0A1S5UYZ7
      Conserved Domains (3) summary
      smart00147
      Location:8351064
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:687828
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      PHA03247
      Location:179437
      PHA03247; large tegument protein UL36; Provisional
    4. NM_001377937.1NP_001364866.1  rap guanine nucleotide exchange factor 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL160271, AL160276
      Conserved Domains (3) summary
      smart00147
      Location:8151044
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:667808
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      PHA03247
      Location:190448
      PHA03247; large tegument protein UL36; Provisional
    5. NM_001377938.1NP_001364867.1  rap guanine nucleotide exchange factor 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL160271, AL160276
      Conserved Domains (4) summary
      smart00147
      Location:9851214
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:837978
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      PHA03247
      Location:190448
      PHA03247; large tegument protein UL36; Provisional
      PHA03307
      Location:675846
      PHA03307; transcriptional regulator ICP4; Provisional
    6. NM_005312.4NP_005303.2  rap guanine nucleotide exchange factor 1 isoform a

      See identical proteins and their annotated locations for NP_005303.2

      Status: REVIEWED

      Source sequence(s)
      AL160271, AL160276
      Consensus CDS
      CCDS48047.1
      UniProtKB/Swiss-Prot
      Q13905, Q5JUE4, Q68DL3, Q8IV73
      Related
      ENSP00000361263.2, ENST00000372189.7
      Conserved Domains (2) summary
      smart00147
      Location:8361065
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:688829
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    7. NM_198679.2NP_941372.1  rap guanine nucleotide exchange factor 1 isoform b

      See identical proteins and their annotated locations for NP_941372.1

      Status: REVIEWED

      Source sequence(s)
      AL160271, AL160276
      Consensus CDS
      CCDS48048.1
      UniProtKB/Swiss-Prot
      Q13905
      Related
      ENSP00000361264.3, ENST00000372190.8
      Conserved Domains (2) summary
      smart00147
      Location:8541083
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:706847
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      131576775..131740076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272186.5XP_005272243.1  rap guanine nucleotide exchange factor 1 isoform X4

      See identical proteins and their annotated locations for XP_005272243.1

      Conserved Domains (4) summary
      smart00147
      Location:10231252
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:8751016
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      PHA03247
      Location:228486
      PHA03247; large tegument protein UL36; Provisional
      PHA03307
      Location:713884
      PHA03307; transcriptional regulator ICP4; Provisional
    2. XM_011518572.3XP_011516874.1  rap guanine nucleotide exchange factor 1 isoform X2

      Conserved Domains (2) summary
      smart00147
      Location:10311260
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:8831024
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    3. XM_047423252.1XP_047279208.1  rap guanine nucleotide exchange factor 1 isoform X10

      Related
      ENST00000419442.2
    4. XM_017014633.2XP_016870122.1  rap guanine nucleotide exchange factor 1 isoform X5

    5. XM_047423251.1XP_047279207.1  rap guanine nucleotide exchange factor 1 isoform X9

    6. XM_011518571.3XP_011516873.1  rap guanine nucleotide exchange factor 1 isoform X1

      Conserved Domains (2) summary
      smart00147
      Location:10321261
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:8841025
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    7. XM_047423254.1XP_047279210.1  rap guanine nucleotide exchange factor 1 isoform X18

    8. XM_024447521.2XP_024303289.1  rap guanine nucleotide exchange factor 1 isoform X17

      Conserved Domains (3) summary
      smart00147
      Location:8521081
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:704845
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cl26464
      Location:196454
      Atrophin-1; Atrophin-1 family
    9. XM_006717072.4XP_006717135.1  rap guanine nucleotide exchange factor 1 isoform X8

      Conserved Domains (2) summary
      smart00147
      Location:9911220
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:843984
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    10. XM_006717074.4XP_006717137.1  rap guanine nucleotide exchange factor 1 isoform X16

      Conserved Domains (2) summary
      smart00147
      Location:8591088
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:711852
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    11. XM_047423253.1XP_047279209.1  rap guanine nucleotide exchange factor 1 isoform X14

    12. XM_006717067.4XP_006717130.1  rap guanine nucleotide exchange factor 1 isoform X3

      Conserved Domains (2) summary
      smart00147
      Location:10291258
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:8811022
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    13. XM_011518579.4XP_011516881.1  rap guanine nucleotide exchange factor 1 isoform X15

      Conserved Domains (2) summary
      smart00147
      Location:8671096
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:719860
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    14. XM_011518578.4XP_011516880.1  rap guanine nucleotide exchange factor 1 isoform X13

      Conserved Domains (2) summary
      smart00147
      Location:8981127
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:750891
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    15. XM_011518577.4XP_011516879.1  rap guanine nucleotide exchange factor 1 isoform X12

      Conserved Domains (2) summary
      smart00147
      Location:9191148
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:771912
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    16. XM_011518576.4XP_011516878.1  rap guanine nucleotide exchange factor 1 isoform X11

      Conserved Domains (2) summary
      smart00147
      Location:9201149
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:772913
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    17. XM_017014636.3XP_016870125.1  rap guanine nucleotide exchange factor 1 isoform X7

    18. XM_017014635.3XP_016870124.1  rap guanine nucleotide exchange factor 1 isoform X6

    19. XM_011518581.4XP_011516883.1  rap guanine nucleotide exchange factor 1 isoform X19

      Conserved Domains (1) summary
      PHA03247
      Location:242500
      PHA03247; large tegument protein UL36; Provisional
    20. XM_047423255.1XP_047279211.1  rap guanine nucleotide exchange factor 1 isoform X21

    21. XM_011518582.4XP_011516884.1  rap guanine nucleotide exchange factor 1 isoform X20

      Conserved Domains (1) summary
      PHA03247
      Location:242500
      PHA03247; large tegument protein UL36; Provisional
    22. XM_047423256.1XP_047279212.1  rap guanine nucleotide exchange factor 1 isoform X22

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      143789743..143952984 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362783.1XP_054218758.1  rap guanine nucleotide exchange factor 1 isoform X4

    2. XM_054362781.1XP_054218756.1  rap guanine nucleotide exchange factor 1 isoform X2

    3. XM_054362788.1XP_054218763.1  rap guanine nucleotide exchange factor 1 isoform X10

    4. XM_054362784.1XP_054218759.1  rap guanine nucleotide exchange factor 1 isoform X5

    5. XM_054362787.1XP_054218762.1  rap guanine nucleotide exchange factor 1 isoform X9

    6. XM_054362780.1XP_054218755.1  rap guanine nucleotide exchange factor 1 isoform X1

    7. XM_054362786.1XP_054218761.1  rap guanine nucleotide exchange factor 1 isoform X8

    8. XM_054362782.1XP_054218757.1  rap guanine nucleotide exchange factor 1 isoform X3

    9. XM_054362790.1XP_054218765.1  rap guanine nucleotide exchange factor 1 isoform X12

    10. XM_054362789.1XP_054218764.1  rap guanine nucleotide exchange factor 1 isoform X11

    11. XM_054362791.1XP_054218766.1  rap guanine nucleotide exchange factor 1 isoform X13

    12. XM_054362795.1XP_054218770.1  rap guanine nucleotide exchange factor 1 isoform X17

    13. XM_054362792.1XP_054218767.1  rap guanine nucleotide exchange factor 1 isoform X14

    14. XM_054362793.1XP_054218768.1  rap guanine nucleotide exchange factor 1 isoform X15

    15. XM_054362796.1XP_054218771.1  rap guanine nucleotide exchange factor 1 isoform X18

    16. XM_054362794.1XP_054218769.1  rap guanine nucleotide exchange factor 1 isoform X16

    17. XM_054362785.1XP_054218760.1  rap guanine nucleotide exchange factor 1 isoform X7

    18. XM_054362797.1XP_054218772.1  rap guanine nucleotide exchange factor 1 isoform X19

    19. XM_054362798.1XP_054218773.1  rap guanine nucleotide exchange factor 1 isoform X20

    20. XM_054362799.1XP_054218774.1  rap guanine nucleotide exchange factor 1 isoform X21

    21. XM_054362800.1XP_054218775.1  rap guanine nucleotide exchange factor 1 isoform X22

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