Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

RASSF1

RASSF1

protein_coding 3 50,329,782 - 50,340,980 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000068028
Gene type
protein_coding
Chromosome
3
Coordinates
50,329,782 - 50,340,980
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

11186 123F2 CCDS2820 CCDS2821 CCDS2822 CCDS43096 ENST00000359365.9 NM_001206957 NM_007182.5 NORE2A Q9NS23 RDA32 REH3P21 Ras association (RalGDS/AF-6) domain family member 1

Summary

GENCODE gene_type=protein_coding; HGNC symbol=RASSF1; HGNC name=Ras association domain family member 1; alias_count=14; RefSeq=NM_001206957; UniProt=Q9NS23; MANE Select=ENST00000359365.9,NM_007182.5

Source: GENCODE + HGNC complete set

11186 • protein-coding

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]

NCBI Gene

UniProt

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

Q9NS23 • reviewed

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

Ras association domain-containing protein 1 · Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, spindle pole; Nucleus

GO annotations

Biological process
  • GO:0006974 DNA damage response (IMP)
  • GO:0007265 Ras protein signal transduction (IDA)
  • GO:0007265 Ras protein signal transduction (IBA)
  • GO:0031398 positive regulation of protein ubiquitination (IDA)
  • GO:0050821 protein stabilization (IDA)
  • GO:0051726 regulation of cell cycle (IDA)
  • GO:1902806 regulation of cell cycle G1/S phase transition (IMP)
  • GO:0007165 signal transduction (IEA)
Cellular component
  • GO:0005813 centrosome (IEA)
  • GO:0005856 cytoskeleton (IEA)
  • GO:0015630 microtubule cytoskeleton (IDA)
  • GO:0015630 microtubule cytoskeleton (IDA)
  • GO:0015630 microtubule cytoskeleton (IBA)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IDA)
  • GO:0005634 nucleus (IDA)
  • GO:0005634 nucleus (IBA)
  • GO:0005819 spindle (IEA)

+ 1 more

Molecular function
  • GO:0042802 identical protein binding (IPI)
  • GO:0042802 identical protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

+ 44 more

Representative

Representative transcript
ENST00000327761
Representative protein
ENSP00000333327.3
Representative type
CCDS
Candidate count
6

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000327761 RASSF1-201 protein_coding not available ENSP00000333327.3 3:50,329,782 - 50,337,464 -
ENST00000357043 RASSF1-202 protein_coding not available ENSP00000349547.2 3:50,329,782 - 50,340,936 -
ENST00000395126 RASSF1-205 protein_coding not available ENSP00000378558.3 3:50,329,782 - 50,338,233 -
ENST00000616212 RASSF1-210 protein_coding not available ENSP00000482696.1 3:50,329,782 - 50,340,936 -
ENST00000954825 RASSF1-211 protein_coding not available ENSP00000624884.1 3:50,329,782 - 50,340,936 -
ENST00001142152 RASSF1-215 protein_coding not available ENSP00000808741.1 3:50,329,782 - 50,340,936 -
ENST00001003170 RASSF1-212 nonsense_mediated_decay not available ENSP00000672987.1 3:50,329,785 - 50,340,967 -
ENST00001018244 RASSF1-213 nonsense_mediated_decay not available ENSP00000688061.1 3:50,329,786 - 50,340,857 -
ENST00001123810 RASSF1-214 nonsense_mediated_decay not available ENSP00000793615.1 3:50,329,786 - 50,340,848 -
ENST00000359365 RASSF1-203 protein_coding not available ENSP00000352323.4 3:50,329,788 - 50,340,836 -
ENST00000395117 RASSF1-204 nonsense_mediated_decay not available ENSP00000378549.2 3:50,329,788 - 50,340,841 -
ENST00000482447 RASSF1-207 nonsense_mediated_decay not available ENSP00000433000.1 3:50,329,788 - 50,340,912 -
ENST00000478619 RASSF1-206 retained_intron not available not available 3:50,336,377 - 50,340,980 -
ENST00000488024 RASSF1-208 protein_coding_CDS_not_defined not available not available 3:50,336,570 - 50,340,830 -
ENST00000494145 RASSF1-209 retained_intron not available not available 3:50,336,800 - 50,338,288 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.