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    RAP1B RAP1B, member of RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 5908, updated on 9-Jun-2024

    Summary

    Official Symbol
    RAP1Bprovided by HGNC
    Official Full Name
    RAP1B, member of RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9857
    See related
    Ensembl:ENSG00000127314 MIM:179530; AllianceGenome:HGNC:9857
    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
    K-REV; RAL1B; THC11
    Summary
    This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in lymph node (RPKM 83.8), appendix (RPKM 79.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAP1B in Genome Data Viewer
    Location:
    12q15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68610899..68671901)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68590436..68651443)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69004679..69065681)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 3-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:68881905-68882736 Neighboring gene MPRA-validated peak1778 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr12:68932387-68933349 Neighboring gene ribosomal protein SA pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69009467-69010238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6641 Neighboring gene ribosomal protein L10 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6642 Neighboring gene small nucleolar RNA, H/ACA box 70G Neighboring gene MPRA-validated peak1779 silencer Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 4 Neighboring gene uncharacterized LOC100507250 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:69074200-69074313 Neighboring gene ribosomal protein L7 pseudogene 42 Neighboring gene nucleoporin 107 Neighboring gene keratin 8 pseudogene 39

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
    MedGen: CN375875 OMIM: 620654 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of RAP1B, member of RAS oncogene family (RAP1B) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag Prostaglandin E2-mediated HIV-1 inhibition requires the EPAC/RAP/RhoA signaling pathway by downregulation of HIV-1 CA production PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ18601, DKFZp586H0723

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Rap protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Rap protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium-ion regulated exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in establishment of endothelial barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in microvillus assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of synaptic vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of integrin activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rap-1b
    Names
    GTP-binding protein smg p21B
    RAS-related protein RAP1B
    Ras family small GTP binding protein RAP1B
    small GTP binding protein
    NP_001010942.1
    NP_001238846.1
    NP_001238847.1
    NP_001238850.1
    NP_001238851.1
    NP_056461.1

    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.

    mRNA and Protein(s)

    1. NM_001010942.3NP_001010942.1  ras-related protein Rap-1b isoform 1 precursor

      See identical proteins and their annotated locations for NP_001010942.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB062128, AC015550, AC090061, CX868584, DB448914
      Consensus CDS
      CCDS8984.1
      UniProtKB/Swiss-Prot
      A6NIZ1, B2R5Z2, B4DQI8, B4DW74, B4DW94, P09526, P61224, Q502X3, Q5TZR4, Q6DCA1, Q6LES0
      Related
      ENSP00000250559.9, ENST00000250559.14
      Conserved Domains (1) summary
      cd04175
      Location:3167
      Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms
    2. NM_001251917.2NP_001238846.1  ras-related protein Rap-1b isoform 2

      See identical proteins and their annotated locations for NP_001238846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AC015550, AC090061, AJ420497, AK301401, CX868584, DB448914
      Consensus CDS
      CCDS58254.1
      UniProtKB/TrEMBL
      B7ZAY2
      Related
      ENSP00000444830.1, ENST00000539091.5
      Conserved Domains (1) summary
      cl38936
      Location:3125
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001251918.2NP_001238847.1  ras-related protein Rap-1b isoform 2

      See identical proteins and their annotated locations for NP_001238847.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (2) is shorter, compared to isoform 1. Variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AC015550, AC090061, AJ420497, AK316447, CX868584, DB448914
      Consensus CDS
      CCDS58254.1
      UniProtKB/TrEMBL
      B7ZAY2
      Related
      ENSP00000399986.2, ENST00000450214.6
      Conserved Domains (1) summary
      cl38936
      Location:3125
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_001251921.2NP_001238850.1  ras-related protein Rap-1b isoform 3

      See identical proteins and their annotated locations for NP_001238850.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC015550, AC090061, AJ420497, AK298818, CX868584, DB448914
      Consensus CDS
      CCDS58253.1
      UniProtKB/Swiss-Prot
      A6NIZ1
      Related
      ENSP00000446318.1, ENST00000540209.5
      Conserved Domains (1) summary
      cl38936
      Location:3148
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. NM_001251922.2NP_001238851.1  ras-related protein Rap-1b isoform 4

      See identical proteins and their annotated locations for NP_001238851.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC015550, AC090061, AJ420497, AK301428, CX868584, DB448914
      Consensus CDS
      CCDS58252.1
      UniProtKB/Swiss-Prot
      P61224
      Related
      ENSP00000440014.1, ENST00000542145.5
      Conserved Domains (1) summary
      smart00010
      Location:2121
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    6. NM_015646.6NP_056461.1  ras-related protein Rap-1b isoform 1 precursor

      See identical proteins and their annotated locations for NP_056461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC015550, AC090061, BC000176, CX868584, DB448914
      Consensus CDS
      CCDS8984.1
      UniProtKB/Swiss-Prot
      A6NIZ1, B2R5Z2, B4DQI8, B4DW74, B4DW94, P09526, P61224, Q502X3, Q5TZR4, Q6DCA1, Q6LES0
      Related
      ENSP00000377085.5, ENST00000393436.9
      Conserved Domains (1) summary
      cd04175
      Location:3167
      Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      68610899..68671901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      68590436..68651443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)