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    RASSF3 Ras association domain family member 3 [ Homo sapiens (human) ]

    Gene ID: 283349, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RASSF3provided by HGNC
    Official Full Name
    Ras association domain family member 3provided by HGNC
    Primary source
    HGNC:HGNC:14271
    See related
    Ensembl:ENSG00000153179 MIM:607019; AllianceGenome:HGNC:14271
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RASSF5
    Summary
    The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003]
    Expression
    Ubiquitous expression in spleen (RPKM 26.7), appendix (RPKM 26.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RASSF3 in Genome Data Viewer
    Location:
    12q14.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (64506964..64697564)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (64485586..64676600)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65004275..65091344)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S25 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4621 Neighboring gene exportin for tRNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6593 Neighboring gene TANK binding kinase 1 Neighboring gene uncharacterized LOC105369803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6594 Neighboring gene small nucleolar RNA SNORD83 Neighboring gene uncharacterized LOC107984521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4624 Neighboring gene RASSF3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6597 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:65019275-65019991 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:65035223-65035726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:65041527-65042250 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:65046125-65046302 Neighboring gene microRNA 548c Neighboring gene microRNA 548z Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6600 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:65066263-65066452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:65068096-65068875 Neighboring gene Sharpr-MPRA regulatory region 4654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:65151732-65152612 Neighboring gene small nucleolar RNA U13 Neighboring gene glucosamine (N-acetyl)-6-sulfatase Neighboring gene TBC1 domain family member 30

    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. Rassf3 is responsible in part for resistance to mammary tumor development in neu transgenic mice. Jacquemart IC, et al. Int J Oncol, 2009 Feb. PMID 19148488
    2. Silencing of RASSF3 by DNA hypermethylation is associated with tumorigenesis in somatotroph adenomas. Peng H, et al. PLoS One, 2013. PMID 23555615, Free PMC Article
    3. RASSF3 downregulation increases malignant phenotypes of non-small cell lung cancer. Fukatsu A, et al. Lung Cancer, 2014 Jan. PMID 24246507
    4. Functional single nucleotide polymorphisms of the RASSF3 gene and susceptibility to squamous cell carcinoma of the head and neck. Guo H, et al. Eur J Cancer, 2014 Feb. PMID 24295637, Free PMC Article
    5. The RASSF3 candidate tumor suppressor induces apoptosis and G1-S cell-cycle arrest via p53. Kudo T, et al. Cancer Res, 2012 Jun 1. PMID 22593196

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. low expression is associated with malignant phenotypes in non-small cell lung cancer patients
      Title: RASSF3 downregulation increases malignant phenotypes of non-small cell lung cancer.
    2. Taken together, these findings indicate that the RASSF3 promoter rs6581580 T>G SNP is potentially functional, modulating susceptibility to SCCHN among non-Hispanic whites.
      Title: Functional single nucleotide polymorphisms of the RASSF3 gene and susceptibility to squamous cell carcinoma of the head and neck.
    3. hypermethylation-induced RASSF3 silencing plays an important role in the tumorigenesis of pituitary somatotroph adenomas.
      Title: Silencing of RASSF3 by DNA hypermethylation is associated with tumorigenesis in somatotroph adenomas.
    4. tumor suppressor activity of RASSF3, which occurs through p53 stabilization and regulation of apoptosis and the cell cycle.
      Title: The RASSF3 candidate tumor suppressor induces apoptosis and G1-S cell-cycle arrest via p53.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    6. Mammary tumor incidence in bi-transgenic mice is delayed, suggesting that transgenic Rassf3 may influence mammary tumor incidence in transgenic mice
      Title: Rassf3 is responsible in part for resistance to mammary tumor development in neu transgenic mice.
    7. The presence of a Ras association domain common to NORE1,RASSF1, and RASSF3 suggests their possible involvement inRas-like signaling pathways.
      Title: RASSF3 and NORE1: identification and cloning of two human homologues of the putative tumor suppressor gene RASSF1.
    Submit: New GeneRIF Correction

    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

    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

    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

    • MGC119194, MGC119195, MGC119197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ras association domain-containing protein 3
    Names
    Ras association (RalGDS/AF-6) domain family 3
    Ras association (RalGDS/AF-6) domain family member 3

    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.

    mRNA and Protein(s)

    1. NM_178169.4 → NP_835463.1  ras association domain-containing protein 3

      See identical proteins and their annotated locations for NP_835463.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AC025262, AC078962, AY217662
      Consensus CDS
      CCDS8969.1
      UniProtKB/Swiss-Prot
      Q86WH1, Q86WH2
      Related
      ENSP00000443021.1, ENST00000542104.6
      Conserved Domains (2) summary
      pfam16517
      Location:192 → 231
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl00155
      Location:79 → 188
      UBQ; Ubiquitin-like proteins

    RNA

    1. NR_040718.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA425154, AC025262, AC078962, AY217663

    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
      64506964..64697564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428712.1 → XP_047284668.1  ras association domain-containing protein 3 isoform X4

    2. XM_047428711.1 → XP_047284667.1  ras association domain-containing protein 3 isoform X1

      Related
      ENSP00000490100.1, ENST00000637125.1

    3. XM_011538195.3 → XP_011536497.1  ras association domain-containing protein 3 isoform X2

      Conserved Domains (2) summary
      pfam16517
      Location:180 → 219
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl00155
      Location:67 → 176
      UBQ; Ubiquitin-like proteins

    4. XM_017019182.2 → XP_016874671.1  ras association domain-containing protein 3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      64485586..64676600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371777.1 → XP_054227752.1  ras association domain-containing protein 3 isoform X4

    2. XM_054371774.1 → XP_054227749.1  ras association domain-containing protein 3 isoform X1

    3. XM_054371775.1 → XP_054227750.1  ras association domain-containing protein 3 isoform X2

    4. XM_054371776.1 → XP_054227751.1  ras association domain-containing protein 3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WH2.1 GenPept UniProtKB/Swiss-Prot:Q86WH2

    Gene LinkOut

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

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