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    RASSF6 Ras association domain family member 6 [ Homo sapiens (human) ]

    Gene ID: 166824, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RASSF6provided by HGNC
    Official Full Name
    Ras association domain family member 6provided by HGNC
    Primary source
    HGNC:HGNC:20796
    See related
    Ensembl:ENSG00000169435 MIM:612620; AllianceGenome:HGNC:20796
    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
    Summary
    This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
    Expression
    Broad expression in stomach (RPKM 5.6), colon (RPKM 3.3) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RASSF6 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73571550..73620631, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (76915192..76964307, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74437267..74486348, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21612 Neighboring gene uncharacterized LOC124900927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21613 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:74485627-74486176 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:74486177-74486725 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:74527344-74527549 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:74563013-74563209 Neighboring gene Sharpr-MPRA regulatory region 6280 Neighboring gene inflammatory MKL1 (MRTFA) interacting lncRNA Neighboring gene upstream master lncRNA of the inflammatory chemokine locus Neighboring gene Sharpr-MPRA regulatory region 5404 Neighboring gene C-X-C motif chemokine ligand 8

    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. Decreased expression of RASSF6 is a novel independent prognostic marker of a worse outcome in gastric cancer patients after curative surgery. Wen Y, et al. Ann Surg Oncol, 2011 Dec. PMID 21442347
    2. Combined RASSF1A and RASSF2A Promoter Methylation Analysis as Diagnostic Biomarker for Bladder Cancer. Meng W, et al. Mol Biol Int, 2012. PMID 22530128, Free PMC Article
    3. Expression of RASSF6 in kidney and the implication of RASSF6 and the Hippo pathway in the sorbitol-induced apoptosis in renal proximal tubular epithelial cells. Withanage K, et al. J Biochem, 2012 Jul. PMID 22577168
    4. Haplotype mapping of the bronchiolitis susceptibility locus near IL8. Hull J, et al. Hum Genet, 2004 Feb. PMID 14605870
    5. RASSF6 promotes p21(Cip1/Waf1)-dependent cell cycle arrest and apoptosis through activation of the JNK/SAPK pathway in clear cell renal cell carcinoma. Liang YY, et al. Cell Cycle, 2014. PMID 24626183, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene Transcription.
      Title: DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene Transcription.
    2. Down-regulation of circITCH promotes osteosarcoma development and resistance to doxorubicin via the miR-524/RASSF6 axis.
      Title: Down-regulation of circITCH promotes osteosarcoma development and resistance to doxorubicin via the miR-524/RASSF6 axis.
    3. Kindlin-3 and RASSF6 are probable biomarkers for predicting metastasis in cutaneous melanoma.
      Title: Kindlin-3 and RASSF6 are probable biomarkers for predicting metastasis in cutaneous melanoma.
    4. lncRNA TUSC7 inhibits osteosarcoma progression through the miR181a/RASSF6 axis.
      Title: lncRNA TUSC7 inhibits osteosarcoma progression through the miR‑181a/RASSF6 axis.
    5. MiR-496 promotes migration and epithelial-mesenchymal transition by targeting RASSF6 in colorectal cancer.
      Title: MiR-496 promotes migration and epithelial-mesenchymal transition by targeting RASSF6 in colorectal cancer.
    6. The results indicate that the RASSF6-TRIM16 axis is a key effector in ESCC progression and that RASSF6 serves as a potential target for the treatment of ESCC.
      Title: RASSF6-TRIM16 axis promotes cell proliferation, migration and invasion in esophageal squamous cell carcinoma.
    7. DNA methylation status of the RASSF6 and RASSF10 genes could be potential biomarkers for the assessment of residual disease in PB of patients with ALL.
      Title: Residual methylation of tumor suppressor gene promoters, RASSF6 and RASSF10, as novel biomarkers for minimal residual disease detection in adult acute lymphoblastic leukemia.
    8. RASSF6 increases unphosphorylated pRb and augments the interaction between pRb and E2F1. Moreover, RASSF6 induces TP73 target genes via pRb and E2F1 in a p53-negative background.
      Title: The RASSF6 Tumor Suppressor Protein Regulates Apoptosis and Cell Cycle Progression via Retinoblastoma Protein.
    9. RASSF6 functions as a potential tumor suppressor in human breast cancer through activation of Hippo pathway.
      Title: Downregulation of RASSF6 promotes breast cancer growth and chemoresistance through regulation of Hippo signaling.
    10. RASSF6 is down-regulated and exhibits tumor suppressor activities in hepatocellular carcinoma.
      Title: Overexpression of RAS-Association Domain Family 6 (RASSF6) Inhibits Proliferation and Tumorigenesis in Hepatocellular Carcinoma Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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

    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

    • DKFZp686K23225

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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_001270391.2 → NP_001257320.1  ras association domain-containing protein 6 isoform c

      See identical proteins and their annotated locations for NP_001257320.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. It encodes isoform c which is shorter than isoform a.
      Source sequence(s)
      AC074250
      Consensus CDS
      CCDS58904.1
      UniProtKB/Swiss-Prot
      Q6ZTQ3
      Related
      ENSP00000379123.2, ENST00000395777.6
      Conserved Domains (2) summary
      pfam16517
      Location:253 → 291
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:189 → 239
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    2. NM_001270392.1 → NP_001257321.1  ras association domain-containing protein 6 isoform d

      See identical proteins and their annotated locations for NP_001257321.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate in-frame exons in the 5' coding region compared to variant 1. It encodes isoform d which is shorter than isoform a.
      Source sequence(s)
      AC074250, AI579909, AK126346, AW070877, AW407403, AY217665, BM923326, BX424428, BX957171
      Consensus CDS
      CCDS58905.1
      UniProtKB/Swiss-Prot
      Q6ZTQ3
      Related
      ENSP00000335582.5, ENST00000335049.5
      Conserved Domains (2) summary
      cd17223
      Location:175 → 261
      RA_RASSF6; Ras-associating (RA) domain found in Ras-association domain-containing protein 6 (RASSF6)
      pfam16517
      Location:275 → 313
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    3. NM_177532.5 → NP_803876.1  ras association domain-containing protein 6 isoform a

      See identical proteins and their annotated locations for NP_803876.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. It encodes isoform a.
      Source sequence(s)
      AC074250
      Consensus CDS
      CCDS3559.1
      UniProtKB/Swiss-Prot
      Q6ZTQ3
      Related
      ENSP00000303877.5, ENST00000307439.10
      Conserved Domains (2) summary
      pfam16517
      Location:287 → 325
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:187 → 273
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    4. NM_201431.2 → NP_958834.1  ras association domain-containing protein 6 isoform b

      See identical proteins and their annotated locations for NP_958834.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame exon in the 5' coding region and uses an upstream start codon compared to variant 1. It encodes isoform b which has a longer N-terminus compared to isoform a.
      Source sequence(s)
      AC074250, AI579909, AK126346, AW070877, AW407403, BM923326, BX424428, BX957171
      Consensus CDS
      CCDS3558.1
      UniProtKB/Swiss-Prot
      Q68DT2, Q6PDA6, Q6ZTQ3, Q86WG9, Q86WH0
      Related
      ENSP00000340578.3, ENST00000342081.7
      Conserved Domains (2) summary
      pfam16517
      Location:319 → 357
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:219 → 305
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      73571550..73620631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531689.4 → XP_011529991.1  ras association domain-containing protein 6 isoform X3

      Conserved Domains (2) summary
      pfam16517
      Location:285 → 323
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl00155
      Location:221 → 271
      UBQ; Ubiquitin-like proteins

    2. XM_047449709.1 → XP_047305665.1  ras association domain-containing protein 6 isoform X2

    3. XM_011531688.2 → XP_011529990.1  ras association domain-containing protein 6 isoform X2

      See identical proteins and their annotated locations for XP_011529990.1

      UniProtKB/Swiss-Prot
      Q6ZTQ3
      Conserved Domains (2) summary
      pfam16517
      Location:287 → 325
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:187 → 273
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    4. XM_047449711.1 → XP_047305667.1  ras association domain-containing protein 6 isoform X5

    5. XM_047449710.1 → XP_047305666.1  ras association domain-containing protein 6 isoform X4

    6. XM_011531690.3 → XP_011529992.1  ras association domain-containing protein 6 isoform X4

      See identical proteins and their annotated locations for XP_011529992.1

      Conserved Domains (2) summary
      pfam16517
      Location:229 → 267
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl00155
      Location:129 → 215
      UBQ; Ubiquitin-like proteins

    7. XM_017007837.3 → XP_016863326.1  ras association domain-containing protein 6 isoform X6

    8. XM_011531687.3 → XP_011529989.1  ras association domain-containing protein 6 isoform X1

      Conserved Domains (2) summary
      pfam16517
      Location:319 → 343
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl00155
      Location:219 → 305
      UBQ; Ubiquitin-like proteins

    9. XM_017007838.2 → XP_016863327.1  ras association domain-containing protein 6 isoform X7

    10. XM_047449712.1 → XP_047305668.1  ras association domain-containing protein 6 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      76915192..76964307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349110.1 → XP_054205085.1  ras association domain-containing protein 6 isoform X3

    2. XM_054349107.1 → XP_054205082.1  ras association domain-containing protein 6 isoform X1

    3. XM_054349109.1 → XP_054205084.1  ras association domain-containing protein 6 isoform X2

    4. XM_054349108.1 → XP_054205083.1  ras association domain-containing protein 6 isoform X2

    5. XM_054349113.1 → XP_054205088.1  ras association domain-containing protein 6 isoform X5

    6. XM_054349112.1 → XP_054205087.1  ras association domain-containing protein 6 isoform X4

    7. XM_054349111.1 → XP_054205086.1  ras association domain-containing protein 6 isoform X4

    8. XM_054349114.1 → XP_054205089.1  ras association domain-containing protein 6 isoform X6

    9. XM_054349115.1 → XP_054205090.1  ras association domain-containing protein 6 isoform X7

    10. XM_054349116.1 → XP_054205091.1  ras association domain-containing protein 6 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZTQ3.1 GenPept UniProtKB/Swiss-Prot:Q6ZTQ3

    Gene LinkOut

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

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