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

    Gene ID: 5908, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See RAP1B in Genome Data Viewer
    Location:
    12q15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68610899..68671901)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68590436..68651443)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia. Pardo LM, et al. Clin Genet, 2024 Feb. PMID 37850357
    2. Rap1-B is phosphorylated by protein kinase A in intact human platelets. Siess W, et al. Biochem Biophys Res Commun, 1990 Jul 31. PMID 1696481
    3. Nucleotide sequence of a human cDNA encoding a ras-related protein (rap1B). Pizon V, et al. Nucleic Acids Res, 1988 Aug 11. PMID 3137530, Free PMC Article
    4. Ultrastructural localization of the small GTP-binding protein Rap1 in human platelets and megakaryocytes. Berger G, et al. Br J Haematol, 1994 Oct. PMID 7803284
    5. A selective role for phosphatidylinositol 3,4,5-trisphosphate in the Gi-dependent activation of platelet Rap1B. Lova P, et al. J Biol Chem, 2003 Jan 3. PMID 12407113

    See all (158) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
      Title: Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
    2. ICP4-Associated Activation of Rap1b Facilitates Herpes Simplex Virus Type I (HSV-1) Infection in Human Corneal Epithelial Cells.
      Title: ICP4-Associated Activation of Rap1b Facilitates Herpes Simplex Virus Type I (HSV-1) Infection in Human Corneal Epithelial Cells.
    3. Roles of the hsa_circ_0013880/USP32/Rap1b axis in the proliferation and apoptosis of acute myeloid leukemia cells.
      Title: Roles of the hsa_circ_0013880/USP32/Rap1b axis in the proliferation and apoptosis of acute myeloid leukemia cells.
    4. SNORA70E promotes the occurrence and development of ovarian cancer through pseudouridylation modification of RAP1B and alternative splicing of PARPBP.
      Title: SNORA70E promotes the occurrence and development of ovarian cancer through pseudouridylation modification of RAP1B and alternative splicing of PARPBP.
    5. LINC00665 Facilitates the Malignant Processes of Osteosarcoma by Increasing the RAP1B Expression via Sponging miR-708 and miR-142-5p.
      Title: LINC00665 Facilitates the Malignant Processes of Osteosarcoma by Increasing the RAP1B Expression via Sponging miR-708 and miR-142-5p.
    6. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
      Title: De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
    7. MiR-181a Reduces Platelet Activation via the Inhibition of Endogenous RAP1B.
      Title: MiR-181a Reduces Platelet Activation via the Inhibition of Endogenous RAP1B.
    8. Large Extracellular Vesicle-Associated Rap1 Accumulates in Atherosclerotic Plaques, Correlates With Vascular Risks and Is Involved in Atherosclerosis.
      Title: Large Extracellular Vesicle-Associated Rap1 Accumulates in Atherosclerotic Plaques, Correlates With Vascular Risks and Is Involved in Atherosclerosis.
    9. MicroRNA-149 inhibits the progression of lung adenocarcinoma through targeting RAP1B and inactivating Wnt/beta-catenin pathway.
      Title: MicroRNA-149 inhibits the progression of lung adenocarcinoma through targeting RAP1B and inactivating Wnt/β-catenin pathway.
    10. Long Noncoding RNA LUADT1 Is Upregulated in Melanoma and May Sponge miR-28-5p to Upregulate RAP1B.
      Title: Long Noncoding RNA LUADT1 Is Upregulated in Melanoma and May Sponge miR-28-5p to Upregulate RAP1B.
    Submit: New GeneRIF Correction See all GeneRIFs (51)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
    MedGen: C5882734 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_001010942.3 → NP_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:3 → 167
      Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms

    2. NM_001251917.2 → NP_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:3 → 125
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001251918.2 → NP_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:3 → 125
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_001251921.2 → NP_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:3 → 148
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. NM_001251922.2 → NP_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:2 → 121
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily

    6. NM_015646.6 → NP_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:3 → 167
      Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61224.1 GenPept UniProtKB/Swiss-Prot:P61224

    Gene LinkOut

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