Human Gene RASSF1 (ENST00000359365.9_7) from GENCODE V47lift37
  Description: Ras association domain family member 1, transcript variant A (from RefSeq NM_007182.5)
Gencode Transcript: ENST00000359365.9_7
Gencode Gene: ENSG00000068028.18_9
Transcript (Including UTRs)
   Position: hg19 chr3:50,367,219-50,378,267 Size: 11,049 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr3:50,368,012-50,378,236 Size: 10,225 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:50,367,219-50,378,267)mRNA (may differ from genome)Protein (340 aa)
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-  Comments and Description Text from UniProtKB
  ID: RASF1_HUMAN
DESCRIPTION: RecName: Full=Ras association domain-containing protein 1;
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.
SUBUNIT: 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 HRAS1 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.
INTERACTION: Q12834:CDC20; NbExp=2; IntAct=EBI-438698, EBI-367462; Q66K89:E4F1; NbExp=7; IntAct=EBI-438698, EBI-1227043; Q01844:EWSR1; NbExp=3; IntAct=EBI-438698, EBI-739737; O95166:GABARAP; NbExp=2; IntAct=EBI-367363, EBI-712001; P60520:GABARAPL2; NbExp=2; IntAct=EBI-367363, EBI-720116; P01112:HRAS; NbExp=2; IntAct=EBI-438698, EBI-350145; Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-367363, EBI-373144; Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-367363, EBI-2603996; Q13188:STK3; NbExp=3; IntAct=EBI-438698, EBI-992580; Q13043:STK4; NbExp=4; IntAct=EBI-438698, EBI-367376;
SUBCELLULAR LOCATION: Isoform A: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, 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.
SUBCELLULAR LOCATION: Isoform C: Nucleus. Note=Predominantly nuclear.
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.
SIMILARITY: Contains 1 phorbol-ester/DAG-type zinc finger.
SIMILARITY: Contains 1 Ras-associating domain.
SIMILARITY: Contains 1 SARAH domain.
SEQUENCE CAUTION: Sequence=AAB67312.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RASSF1ID377.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RASSF1
Diseases sorted by gene-association score: lacrimal gland carcinoma (25), lung cancer* (25), monophasic synovial sarcoma (21), supratentorial primitive neuroectodermal tumor (16), cervical squamous cell carcinoma (14), cervical adenocarcinoma (12), nasopharyngeal carcinoma (11), endometrial cancer (10), urinary bladder cancer (8), kidney cancer (8), hepatic adenoma, somatic (7), breast fibroadenoma (6), bladder cancer, somatic (6), mesothelioma, somatic (6), lung cancer susceptibility 3 (6), oxyphilic adenoma (6), clear cell renal cell carcinoma (5), thyroid cancer, nonmedullary, 2 (5), spinal cord ependymoma (5), hepatocellular carcinoma (4), medulloblastoma (3), cervical cancer, somatic (3), breast cancer (2), renal cell carcinoma (2), colorectal cancer (2), prostate cancer (1), ovarian cancer, somatic (1), pharynx cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.28 RPKM in Spleen
Total median expression: 756.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.2031-0.297 Picture PostScript Text
3' UTR -329.50793-0.416 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR000159 - Ras-assoc
IPR011524 - SARAH

Pfam Domains:
PF00130 - Phorbol esters/diacylglycerol binding domain (C1 domain)
PF00788 - Ras association (RalGDS/AF-6) domain
PF16517 - Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

SCOP Domains:
54236 - Ubiquitin-like
57889 - Cysteine-rich domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KZU - NMR


ModBase Predicted Comparative 3D Structure on Q9NS23
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0047485 protein N-terminus binding

Biological Process:
GO:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction
GO:0031398 positive regulation of protein ubiquitination
GO:0035556 intracellular signal transduction
GO:0050821 protein stabilization
GO:0070507 regulation of microtubule cytoskeleton organization
GO:0071157 negative regulation of cell cycle arrest

Cellular Component:
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0015630 microtubule cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  JD063498 - Sequence 44522 from Patent EP1572962.
AK292638 - Homo sapiens cDNA FLJ77196 complete cds, highly similar to Homo sapiens Ras association (RalGDS/AF-6) domain family 1 (RASSF1), transcript variant C, mRNA.
AF132677 - Homo sapiens Ras association (RalGDS/AF-6) domain family protein 1B mRNA, complete cds.
AF132676 - Homo sapiens Ras association (RalGDS/AF-6) domain family protein 1C mRNA, complete cds.
AF040703 - Homo sapiens ras association (RalGDS/AF-6) domain family 1 protein isoform 1C (RASSF1) mRNA, complete cds; alternatively spliced.
AF061836 - Homo sapiens putative tumor suppressor protein (RDA32) mRNA, complete cds.
BC110412 - Homo sapiens Ras association (RalGDS/AF-6) domain family member 1, mRNA (cDNA clone MGC:117292 IMAGE:5756246), complete cds.
AF102770 - Homo sapiens ras association (RalGDS/AF-6) domain family 1 protein isoform 1A (RASSF1) mRNA, complete cds; alternatively spliced.
AF102771 - Homo sapiens cardiac-specific ras association (RalGDS/AF-6) domain family 1 protein isoform 1D (RASSF1) mRNA, complete cds; alternatively spliced.
AF102772 - Homo sapiens pancreas-specific ras association (RalGDS/AF-6) domain family 1 protein isoform 1E (RASSF1) mRNA, complete cds; alternatively spliced.
AF286217 - Homo sapiens Ras association domain family protein isoform 1F (RASSF1) mRNA, complete cds, alternatively spliced.
AF291719 - Homo sapiens Ras association domain family protein isoform 1G (RASSF1) mRNA, complete cds, alternatively spliced.
AF132675 - Homo sapiens Ras association (RalGDS/AF-6) domain family protein 1A mRNA, complete cds.
JD217186 - Sequence 198210 from Patent EP1572962.
JD051585 - Sequence 32609 from Patent EP1572962.
JD338462 - Sequence 319486 from Patent EP1572962.
JD459901 - Sequence 440925 from Patent EP1572962.
JD455595 - Sequence 436619 from Patent EP1572962.
JD134293 - Sequence 115317 from Patent EP1572962.
JD291526 - Sequence 272550 from Patent EP1572962.
JD349965 - Sequence 330989 from Patent EP1572962.
JD172103 - Sequence 153127 from Patent EP1572962.
BC117153 - Homo sapiens Ras association (RalGDS/AF-6) domain family member 1, mRNA (cDNA clone MGC:150762 IMAGE:40125704), complete cds.
BC143879 - Homo sapiens Ras association (RalGDS/AF-6) domain family member 1, mRNA (cDNA clone MGC:177412 IMAGE:9052395), complete cds.
JD347539 - Sequence 328563 from Patent EP1572962.
JD144879 - Sequence 125903 from Patent EP1572962.
JD114271 - Sequence 95295 from Patent EP1572962.
HQ258572 - Synthetic construct Homo sapiens clone IMAGE:100073093 Unknown protein gene, encodes complete protein.
KJ898372 - Synthetic construct Homo sapiens clone ccsbBroadEn_07766 RASSF1 gene, encodes complete protein.
KJ893249 - Synthetic construct Homo sapiens clone ccsbBroadEn_02643 RASSF1 gene, encodes complete protein.
BT020047 - Homo sapiens Ras association (RalGDS/AF-6) domain family 1 mRNA, complete cds.
BT020048 - Homo sapiens Ras association (RalGDS/AF-6) domain family 1 mRNA, complete cds.
AB528642 - Synthetic construct DNA, clone: pF1KB6438, Homo sapiens RASSF1 gene for Ras association (RalGDS/AF-6) domain family member 1, without stop codon, in Flexi system.
JD452420 - Sequence 433444 from Patent EP1572962.
JD343556 - Sequence 324580 from Patent EP1572962.
DQ584619 - Homo sapiens piRNA piR-51731, complete sequence.
JD291384 - Sequence 272408 from Patent EP1572962.
AX505297 - Sequence 25 from Patent WO0250261.
JD531819 - Sequence 512843 from Patent EP1572962.
JD199272 - Sequence 180296 from Patent EP1572962.
AX505294 - Sequence 22 from Patent WO0250261.
JD496520 - Sequence 477544 from Patent EP1572962.
AK300994 - Homo sapiens cDNA FLJ59572 complete cds, highly similar to Ras association domain-containing protein 1.
AK310032 - Homo sapiens cDNA, FLJ17074.
JD191312 - Sequence 172336 from Patent EP1572962.
JD465035 - Sequence 446059 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZLL1, ENST00000359365.1, ENST00000359365.2, ENST00000359365.3, ENST00000359365.4, ENST00000359365.5, ENST00000359365.6, ENST00000359365.7, ENST00000359365.8, NM_007182, O14571, O60539, O60710, Q0VGC6, Q5TZT2, Q9HB04, Q9HB18, Q9NS22, Q9NS23, Q9UND4, Q9UND5, RASF1_HUMAN, RASSF1 , RDA32 , uc318ban.1, uc318ban.2
UCSC ID: ENST00000359365.9_7
RefSeq Accession: NM_007182.5
Protein: Q9NS23 (aka RASF1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.