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

Gene ID: 166824, updated on 2-Nov-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
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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

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