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Aliases for RASSF1 Gene

Aliases for RASSF1 Gene

  • Ras Association Domain Family Member 1 2 3
  • Ras Association (RalGDS/AF-6) Domain Family Member 1 2 3 5
  • RDA32 3 4
  • 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
  • REH3P21 3
  • NORE2A 3
  • 123F2 3

External Ids for RASSF1 Gene

Previous GeneCards Identifiers for RASSF1 Gene

  • GC03P049608
  • GC03P049778
  • GC03M050221
  • GC03M050326
  • GC03M050342

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 Lung Cancer and Monophasic Synovial Sarcoma. Among its related pathways are Glioma and Pathways in cancer. 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASSF1 Gene

Genomics for RASSF1 Gene

Regulatory Elements for RASSF1 Gene

Enhancers for RASSF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RASSF1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the RASSF1 gene promoter:

Genomic Location for RASSF1 Gene

Chromosome:
3
Start:
50,329,782 bp from pter
End:
50,340,980 bp from pter
Size:
11,199 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 and XPA. Binds to the N-terminal of CDC20 during prometaphase. Binds to STK3/MST2 and STK4/MST1. Isoform A interacts with MOAP1 and E4F1. Recruited to the TNFRSF1A and TNFRSF10A complexes in response to their respective cognate ligand, after internalization. Can self-associate. Isoform A interacts with RSSF5 and probably associates with HRAS via a RSSF1 isoform A-RSSF5 heterodimer. Part of a complex with MDM2, DAXX, RASSF1 and USP7. Isoform A interacts (via C-terminus) with DAXX (via N-terminus); the interaction is independent of MDM2 and TP53. Isoform C or isoform H interacts (via N-terminus) with DAXX. Isoform A interacts (via N-terminus) with MDM2 (via C-terminus); the interaction is independent of TP53.
    SequenceCaution:
    • Sequence=AAB67312.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RASSF1 Gene

    Alternative splice isoforms for RASSF1 Gene

neXtProt entry for RASSF1 Gene

Proteomics data for RASSF1 Gene at MOPED

Post-translational modifications for RASSF1 Gene

  • Ubiquitination at Lys 236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RASSF1 Gene

Domains & Families for RASSF1 Gene

Gene Families for RASSF1 Gene

Protein Domains for RASSF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NS23

UniProtKB/Swiss-Prot:

RASF1_HUMAN :
  • Contains 1 Ras-associating domain.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • Contains 1 Ras-associating domain.
  • Contains 1 SARAH domain.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with RASSF1: view

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.

Gene Ontology (GO) - Molecular Function for RASSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0047485 protein N-terminus binding IPI 18566590
genes like me logo Genes that share ontologies with RASSF1: view
genes like me logo Genes that share phenotypes with RASSF1: view

Human Phenotype Ontology for RASSF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RASSF1 Gene

MGI Knock Outs for RASSF1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for RASSF1 Gene COMPARTMENTS Subcellular localization image for RASSF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 3
extracellular 2

Gene Ontology (GO) - Cellular Components for RASSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with RASSF1: view

Pathways & Interactions for RASSF1 Gene

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

Pathways by source for RASSF1 Gene

SIGNOR curated interactions for RASSF1 Gene

Activates:
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:0006974 cellular response to DNA damage stimulus IMP 18566590
GO:0007165 signal transduction IEA --
GO:0031398 positive regulation of protein ubiquitination IDA 18566590
GO:0035556 intracellular signal transduction IEA --
GO:0050821 protein stabilization IDA 18566590
genes like me logo Genes that share ontologies with RASSF1: view

Drugs & Compounds for RASSF1 Gene

(8) Drugs for RASSF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with RASSF1: view

Transcripts for RASSF1 Gene

Unigene Clusters for RASSF1 Gene

Ras association (RalGDS/AF-6) domain family member 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
RASSF1

Expression for RASSF1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for RASSF1 Gene



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.
genes like me logo Genes that share expression patterns with RASSF1: view

Primer Products

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
dog
(Canis familiaris)
Mammalia RASSF1 35
  • 89.41 (n)
  • 93.82 (a)
RASSF1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rassf1 35
  • 85.39 (n)
  • 91.18 (a)
Rassf1 16
Rassf1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RASSF1 35
  • 99.61 (n)
  • 99.71 (a)
RASSF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rassf1 35
  • 85.29 (n)
  • 90.59 (a)
cow
(Bos Taurus)
Mammalia RASSF1 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RASSF1 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASSF1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASSF1 35
  • 71.99 (n)
  • 72.87 (a)
lizard
(Anolis carolinensis)
Reptilia RASSF1 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14433 35
zebrafish
(Danio rerio)
Actinopterygii rassf1 35
  • 61.7 (n)
  • 57.45 (a)
wufc17f02 35
rassf1 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T24F1.3 37
  • 38 (a)
T24F1.3 35
  • 49.88 (n)
  • 42.14 (a)
rsf-1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for RASSF1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RASSF1 Gene

Paralogs for RASSF1 Gene

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

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

Variants for RASSF1 Gene

Sequence variations from dbSNP and Humsavar for RASSF1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_019542 -
VAR_019543 -
rs76335415 - 50,332,125(+) GAAAG(C/G)TCAGG reference, missense, utr-variant-5-prime
VAR_019545 -
rs2073498 - 50,332,115(+) CTCAG(A/C)TTGAG reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for RASSF1 Gene

Variant ID Type Subtype PubMed ID
nsv523662 CNV Loss 19592680
nsv876769 CNV Loss 21882294
nsv470561 CNV Loss 18288195
nsv876770 CNV Loss 21882294
dgv1456e1 CNV Complex 17122850
nsv834692 CNV Loss 17160897
nsv460531 CNV Loss 19166990
dgv5131n71 CNV Loss 21882294
dgv5132n71 CNV Loss 21882294
nsv834693 CNV Loss 17160897
nsv3813 CNV Loss 18451855
dgv5133n71 CNV Loss 21882294

Variation tolerance for RASSF1 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.86; 87.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RASSF1 Gene

Human Gene Mutation Database (HGMD)
RASSF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASSF1 Gene

Disorders for RASSF1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for RASSF1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • lung cancer, protection against
monophasic synovial sarcoma
  • monophasic sarcoma of synovium
supratentorial primitive neuroectodermal tumor
  • ewings sarcoma-primitive neuroectodermal tumor
cervical squamous cell carcinoma
  • squamous cell carcinoma of cervix
cervical adenocarcinoma
  • adenocarcinoma cervix uteri
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RASSF1

Genetic Association Database (GAD)
RASSF1
Human Genome Epidemiology (HuGE) Navigator
RASSF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASSF1
genes like me logo Genes that share disorders with RASSF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASSF1 Gene

Publications for RASSF1 Gene

  1. Epigenetic inactivation of RASSF1A in lung and breast cancers and malignant phenotype suppression. (PMID: 11333291) Burbee D.G. … Minna J.D. (J. Natl. Cancer Inst. 2001) 3 4 23 67
  2. 14-3-3 mediated regulation of the tumor suppressor protein, RASSF1A. (PMID: 20069457) Ghazaleh H.A. … Baksh S. (Apoptosis 2010) 3 23
  3. [5-Aza-CdR regulates the expression of RASSF1A gene in human gastric cancer cell line and inhibits the growth of cells]. (PMID: 19145506) Shen W.J. … Liu H.B. (Zhonghua Wei Chang Wai Ke Za Zhi 2009) 3 23
  4. Aberrant CpG island hypermethylation of RASSF1A in gastric cardia adenocarcinoma. (PMID: 19160099) Guo W. … Shan B. (Cancer Invest. 2009) 3 23
  5. RASSF1A hypermethylation in pretreatment serum DNA of neuroblastoma patients: a prognostic marker. (PMID: 19165202) Misawa A. … Hosoi H. (Br. J. Cancer 2009) 3 23

Products for RASSF1 Gene

Sources for RASSF1 Gene