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    RASSF5 Ras association domain family member 5 [ Homo sapiens (human) ]

    Gene ID: 83593, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RASSF5provided by HGNC
    Official Full Name
    Ras association domain family member 5provided by HGNC
    Primary source
    HGNC:HGNC:17609
    See related
    Ensembl:ENSG00000266094 MIM:607020; AllianceGenome:HGNC:17609
    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
    RAPL; Maxp1; NORE1; NORE1A; NORE1B; RASSF3
    Summary
    This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in bone marrow (RPKM 44.1), lymph node (RPKM 34.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RASSF5 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (206507531..206589448)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205771712..205853623)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206680864..206762780)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene inhibitor of nuclear factor kappa B kinase subunit epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2401 Neighboring gene IKBKE antisense RNA 1 Neighboring gene uncharacterized LOC124904493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1754 Neighboring gene ribosomal protein L7a pseudogene 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206717516-206718060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206718061-206718603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206730813-206731313 Neighboring gene uncharacterized LOC124904494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206761431-206761931 Neighboring gene eukaryotic translation initiation factor 2D Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:206775241-206776440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1760 Neighboring gene DYRK3 antisense RNA 1 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 3 Neighboring gene uncharacterized LOC124904496 Neighboring gene Sharpr-MPRA regulatory region 10950 Neighboring gene uncharacterized LOC124904495

    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
    • 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. RASSF family proteins and Ras transformation. Vos MD, et al. Methods Enzymol, 2006. PMID 16757334
    2. Expression, purification, crystallization and preliminary X-ray analysis of the human NORE1 SARAH domain. Kim HJ, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2012 Jul 1. PMID 22750872, Free PMC Article
    3. The growth and tumor suppressor NORE1A is a cytoskeletal protein that suppresses growth by inhibition of the ERK pathway. Moshnikova A, et al. J Biol Chem, 2006 Mar 24. PMID 16421102
    4. RASSF5 inhibits growth and invasion and induces apoptosis in osteosarcoma cells through activation of MST1/LATS1 signaling. Zhou XH, et al. Oncol Rep, 2014 Oct. PMID 25109282
    5. NORE1B, a candidate tumor suppressor, is epigenetically silenced in human hepatocellular carcinoma. Macheiner D, et al. J Hepatol, 2006 Jul. PMID 16516329

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Rejuvenation and Functional Restoration of Aged Adipose Stem Cells by DUXAP10 Knockdown via the Regulation of the miR-214-3p/RASSF5 Axis.
      Title: The Rejuvenation and Functional Restoration of Aged Adipose Stem Cells by DUXAP10 Knockdown via the Regulation of the miR-214-3p/RASSF5 Axis.
    2. Engineered variants of the Ras effector protein RASSF5 (NORE1A) promote anticancer activities in lung adenocarcinoma.
      Title: Engineered variants of the Ras effector protein RASSF5 (NORE1A) promote anticancer activities in lung adenocarcinoma.
    3. NORE1A directs apoptotic switch of TNF signaling through reciprocal modulation of ITCH-mediated destruction of TNFRI and BAX.
      Title: NORE1A directs apoptotic switch of TNF signaling through reciprocal modulation of ITCH-mediated destruction of TNFRI and BAX.
    4. REVIEW: elucidate the acknowledged structure, progress in the verified functions and research advances of RASSF5 and the probably relevant signaling pathways
      Title: The Emerging Roles of RASSF5 in Human Malignancy.
    5. Ubc9 is an essential regulator of ADAP where it is required for TCR-induced membrane recruitment of the small GTPase Rap1 and its effector protein RapL.
      Title: Ubc9 Binds to ADAP and Is Required for Rap1 Membrane Recruitment, Rac1 Activation, and Integrin-Mediated T Cell Adhesion.
    6. Hepatitis C virus uses NS5B to specifically suppress NORE1A, facilitating viral replication and elevated Ras signaling.
      Title: Nonstructural protein 5B promotes degradation of the NORE1A tumor suppressor to facilitate hepatitis C virus replication.
    7. Our study demonstrated that miR-214 expression was elevated and RASSF5 was down regulated in oral cancer. Moreover, miR-214 suppressed KB cell apoptosis through down regulation of RASSF5 expression
      Title: MiR-214 regulates oral cancer KB cell apoptosis through targeting RASSF5.
    8. mCD40L-induced cell death mediated by NORE1A expression appeared to be independent of mCD40L-induced cell death mediated by sustained JNK activation since NORE1A inhibition did not affect JNK phosphorylation and vice versa
      Title: NORE1A induction by membrane-bound CD40L (mCD40L) contributes to CD40L-induced cell death and G1 growth arrest in p21-mediated mechanism.
    9. Ras induces the formation of a complex between NORE1A and the phosphatase PP1A, promoting the activation of the Rb tumor suppressor by dephosphorylation
      Title: Ras Regulates Rb via NORE1A.
    10. Down-regulation of RASSF5A and RASSF5C expression is a tumor-specific phenomenon.
      Title: Decreased expression and aberrant methylation of RASSF5A correlates with malignant progression of gastric cardia adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    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

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    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)

    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

    • MGC10823, MGC17344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of lymphocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras association domain-containing protein 5
    Names
    Rap1-binding protein
    Ras association (RalGDS/AF-6) domain family 5
    Ras association (RalGDS/AF-6) domain family member 5
    Ras effector-like protein
    new ras effector 1
    novel Ras effector 1
    regulator for cell adhesion and polarization enriched in lymphoid tissue
    tumor suppressor RASSF3

    NCBI Reference Sequences (RefSeq)

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    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_029062.2 RefSeqGene

      Range
      4986..86903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_182663.4 → NP_872604.1  ras association domain-containing protein 5 isoform A

      See identical proteins and their annotated locations for NP_872604.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as transcript A, represents the longest transcript and encodes the longest isoform (A), also known as NORE1A.
      Source sequence(s)
      AC244034, AK289861, AK291268, BC004270, CD367770
      Consensus CDS
      CCDS30998.1
      UniProtKB/Swiss-Prot
      A8K1E6, Q5SY32, Q8WWV9, Q8WWW0, Q8WXF4, Q9BT99
      UniProtKB/TrEMBL
      A8K5F3
      Related
      ENSP00000462099.1, ENST00000579436.7
      Conserved Domains (3) summary
      cd17220
      Location:207 → 362
      RA_RASSF5; Ras-associating (RA) domain of Ras-association domain family 5 (RASSF5)
      pfam16517
      Location:372 → 410
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cd20886
      Location:120 → 171
      C1_RASSF5; protein kinase C conserved region 1 (C1 domain) found in Ras association domain-containing protein 5 (RASSF5) and similar proteins

    2. NM_182664.4 → NP_872605.1  ras association domain-containing protein 5 isoform B

      See identical proteins and their annotated locations for NP_872605.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform B) is shorter and has a distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AC244034, AK289861, AK291268, AY062003, BC004270, CD367770
      Consensus CDS
      CCDS1463.1
      UniProtKB/TrEMBL
      A0A075B763
      Related
      ENSP00000462544.1, ENST00000580449.5
      Conserved Domains (2) summary
      cd00029
      Location:133 → 170
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cl00155
      Location:272 → 330
      UBQ; Ubiquitin-like proteins

    3. NM_182665.4 → NP_872606.1  ras association domain-containing protein 5 isoform C

      See identical proteins and their annotated locations for NP_872606.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as transcript B, differs in the 5' UTR, lacks a portion of the 5' coding region, and intiates translation at an alternate start codon, compared to variant 1. The resulting isoform (C), also known as NORE1B, is shorter and has a distinct N-terminus when compared to isoform A.
      Source sequence(s)
      AC244034, BC004270, BC042651, CD367770, DA370470
      Consensus CDS
      CCDS1464.1
      UniProtKB/TrEMBL
      A8K7M4
      Related
      ENSP00000462576.1, ENST00000577571.5
      Conserved Domains (2) summary
      cd17220
      Location:54 → 209
      RA_RASSF5; Ras-associating (RA) domain of Ras-association domain family 5 (RASSF5)
      pfam16517
      Location:218 → 257
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      206507531..206589448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      205771712..205853623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031437.1: Suppressed sequence

      Description
      NM_031437.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWW0.1 GenPept UniProtKB/Swiss-Prot:Q8WWW0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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