This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found ... See more...

Aliases for RASSF1 Gene

Aliases for RASSF1 Gene

  • Ras Association Domain Family Member 1 2 3 5
  • RDA32 2 3 4
  • Ras Association (RalGDS/AF-6) Domain Family Member 1 2 3
  • Ras Association Domain-Containing Protein 1 3 4
  • REH3P21 2 3
  • NORE2A 2 3
  • 123F2 2 3
  • Pancreas-Specific Ras Association Domain Family 1 Protein 3
  • Cardiac-Specific Ras Association Domain Family 1 Protein 3
  • Tumor Suppressor Protein RDA32 3
  • WUGSC:H_LUCA12.5 3
  • RASSF1A 3
  • RASSF1 5

External Ids for RASSF1 Gene

Previous GeneCards Identifiers for RASSF1 Gene

  • GC03P049608
  • GC03P049778
  • GC03M050221
  • GC03M050326
  • GC03M050342
  • GC03M050369

Summaries for RASSF1 Gene

Entrez Gene Summary for RASSF1 Gene

  • This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]

GeneCards Summary for RASSF1 Gene

RASSF1 (Ras Association Domain Family Member 1) is a Protein Coding gene. Diseases associated with RASSF1 include Lacrimal Gland Carcinoma and Cervical Adenocarcinoma. Among its related pathways are Cell cycle_Role of APC in cell cycle regulation and Hippo signaling pathway - multiple species. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein N-terminus binding. An important paralog of this gene is RASSF5.

UniProtKB/Swiss-Prot Summary for RASSF1 Gene

  • Potential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.

Gene Wiki entry for RASSF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASSF1 Gene

Genomics for RASSF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RASSF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASSF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASSF1

Top Transcription factor binding sites by QIAGEN in the RASSF1 gene promoter:
  • AP-1

Genomic Locations for RASSF1 Gene

Genomic Locations for RASSF1 Gene
chr3:50,329,782-50,340,980
(GRCh38/hg38)
Size:
11,199 bases
Orientation:
Minus strand
chr3:50,367,217-50,378,411
(GRCh37/hg19)
Size:
11,195 bases
Orientation:
Minus strand

Genomic View for RASSF1 Gene

Genes around RASSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASSF1 Gene

Proteins for RASSF1 Gene

  • Protein details for RASSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS23-RASF1_HUMAN
    Recommended name:
    Ras association domain-containing protein 1
    Protein Accession:
    Q9NS23
    Secondary Accessions:
    • B7ZLL1
    • O14571
    • O60539
    • O60710
    • Q0VGC6
    • Q5TZT2
    • Q9HB04
    • Q9HB18
    • Q9NS22
    • Q9UND4
    • Q9UND5

    Protein attributes for RASSF1 Gene

    Size:
    344 amino acids
    Molecular mass:
    39219 Da
    Quaternary structure:
    • Interacts with MAP1S (PubMed:15205320, PubMed:15753381). Interacts with XPA (PubMed:10888881). Binds to the N-terminal of CDC20 during prometaphase (PubMed:14743218). Binds to STK3/MST2 and STK4/MST1 (PubMed:15109305, PubMed:16510573, PubMed:21199877). Isoform A interacts with MOAP1 (PubMed:15949439). Isoform A interacts with E4F1 (PubMed:14729613). Recruited to the TNFRSF1A and TNFRSF10A complexes in response to their respective cognate ligand, after internalization (PubMed:15949439). Can self-associate (PubMed:11857081). Isoform A interacts with RSSF5 and probably associates with HRAS via a RSSF1 isoform A-RSSF5 heterodimer (PubMed:11857081). Part of a complex with MDM2, DAXX, RASSF1 and USP7 (PubMed:18566590). Isoform A interacts (via C-terminus) with DAXX (via N-terminus); the interaction is independent of MDM2 and TP53 (PubMed:18566590). Isoform C or isoform H interacts (via N-terminus) with DAXX (PubMed:18566590). Isoform A interacts (via N-terminus) with MDM2 (via C-terminus); the interaction is independent of TP53 (PubMed:18566590). Interacts with ECM2 (By similarity).
    SequenceCaution:
    • Sequence=AAB67312.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform D]: Produced by alternative promoter usage.
    • [Isoform A]: Produced by alternative splicing of isoform D.
    • [Isoform B]: Produced by alternative splicing of isoform D.
    • [Isoform C]: Produced by alternative promoter usage.
    • [Isoform E]: Produced by alternative splicing of isoform D.
    • [Isoform F]: Produced by alternative splicing of isoform D.
    • [Isoform G]: Produced by alternative splicing of isoform D.
    • [Isoform H]: Produced by alternative splicing of isoform C.

    Three dimensional structures from OCA and Proteopedia for RASSF1 Gene

    Alternative splice isoforms for RASSF1 Gene

neXtProt entry for RASSF1 Gene

Post-translational modifications for RASSF1 Gene

  • Ubiquitination at Lys236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RASSF1 Gene

Domains & Families for RASSF1 Gene

Gene Families for RASSF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RASSF1 Gene

Suggested Antigen Peptide Sequences for RASSF1 Gene

GenScript: Design optimal peptide antigens:
  • Ras association (RalGDS/AF-6) domain family member 1 (Q17RX7_HUMAN)
  • RASSF1 (Q1W2K8_HUMAN)
  • Ras association (RalGDS/AF-6) domain family 1, isoform CRA_a (Q5TZT2_HUMAN)
  • Ras association domain-containing protein 1 (RASF1_HUMAN)
genes like me logo Genes that share domains with RASSF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RASSF1 Gene

Function for RASSF1 Gene

Molecular function for RASSF1 Gene

UniProtKB/Swiss-Prot Function:
Potential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.

Phenotypes From GWAS Catalog for RASSF1 Gene

Gene Ontology (GO) - Molecular Function for RASSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18566590
GO:0008270 zinc ion binding TAS 11333291
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RASSF1: view
genes like me logo Genes that share phenotypes with RASSF1: view

Animal Models for RASSF1 Gene

MGI Knock Outs for RASSF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASSF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RASSF1 Gene

Localization for RASSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASSF1 Gene

[Isoform A]: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Nucleus. Note=Localizes to cytoplasmic microtubules during interphase, to bipolar centrosomes associated with microtubules during prophase, to spindle fibers and spindle poles at metaphase and anaphase, to the midzone during early telophase, and to the midbody in late telophase in cells. Colocalizes with MDM2 in the nucleus.
[Isoform C]: Nucleus. Note=Predominantly nuclear.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASSF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 3
extracellular 3
cytosol 3
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RASSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IEA,IDA 14743218
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with RASSF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RASSF1 Gene

Pathways & Interactions for RASSF1 Gene

genes like me logo Genes that share pathways with RASSF1: view

Pathways by source for RASSF1 Gene

2 GeneGo (Thomson Reuters) pathways for RASSF1 Gene
  • Cell cycle_Role of APC in cell cycle regulation
  • G-protein signaling_K-RAS regulation pathway

SIGNOR curated interactions for RASSF1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RASSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IMP 12024041
GO:0007165 signal transduction IEA --
GO:0007265 Ras protein signal transduction IDA 15109305
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with RASSF1: view

Drugs & Compounds for RASSF1 Gene

(10) Drugs for RASSF1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cetuximab Approved Pharma EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 869

(14) Additional Compounds for RASSF1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with RASSF1: view

Transcripts for RASSF1 Gene

mRNA/cDNA for RASSF1 Gene

8 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASSF1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASSF1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - -
SP7: - - - - - - - - - -
SP8: - - - -
SP9: -
SP10: -

Relevant External Links for RASSF1 Gene

GeneLoc Exon Structure for
RASSF1

Expression for RASSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RASSF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASSF1 Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for RASSF1 Gene

This gene is overexpressed in Lavage (55.6) and Kidney (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RASSF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASSF1

SOURCE GeneReport for Unigene cluster for RASSF1 Gene:

Hs.476270

mRNA Expression by UniProt/SwissProt for RASSF1 Gene:

Q9NS23-RASF1_HUMAN
Tissue specificity: Isoform A and isoform C are ubiquitously expressed in all tissues tested, however isoform A is absent in many corresponding cancer cell lines. Isoform B is mainly expressed in hematopoietic cells.

Evidence on tissue expression from TISSUES for RASSF1 Gene

  • Nervous system(4.7)
  • Blood(4.6)
  • Intestine(3.1)
  • Lymph node(3)
  • Liver(2.9)
  • Skin(2.8)
  • Lung(2.8)
  • Kidney(2.7)
  • Bone marrow(2.6)
  • Muscle(2.5)
  • Stomach(2.5)
  • Thyroid gland(2.5)
  • Pancreas(2.4)
  • Heart(2.4)
  • Urine(2.3)
  • Spleen(2.3)
  • Adrenal gland(2.1)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RASSF1 Gene

Germ Layers:
  • endoderm
Systems:
  • respiratory
Regions:
Thorax:
  • lung
genes like me logo Genes that share expression patterns with RASSF1: view

No data available for Protein tissue co-expression partners for RASSF1 Gene

Orthologs for RASSF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASSF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RASSF1 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RASSF1 30 31
  • 89.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rassf1 30 17 31
  • 85.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rassf1 30
  • 85.29 (n)
Cow
(Bos Taurus)
Mammalia RASSF1 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RASSF1 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RASSF1 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RASSF1 30
  • 71.99 (n)
Lizard
(Anolis carolinensis)
Reptilia RASSF1 31
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14433 30
Zebrafish
(Danio rerio)
Actinopterygii rassf1 30 31
  • 61.7 (n)
OneToOne
wufc17f02 30
Worm
(Caenorhabditis elegans)
Secernentea T24F1.3 30 32
  • 49.88 (n)
rsf-1 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for RASSF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RASSF1 Gene

ENSEMBL:
Gene Tree for RASSF1 (if available)
TreeFam:
Gene Tree for RASSF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASSF1: view image

Paralogs for RASSF1 Gene

Paralogs for RASSF1 Gene

(4) SIMAP similar genes for RASSF1 Gene using alignment to 3 proteins:

  • RASF1_HUMAN
  • Q17RX7_HUMAN
  • Q1W2K8_HUMAN
genes like me logo Genes that share paralogs with RASSF1: view

Variants for RASSF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASSF1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
728222 Benign: not provided 50,331,836(-) T/C SYNONYMOUS_VARIANT
786011 Benign: not provided 50,331,566(-) G/A