Basic Information

Symbol
RASSF1
RNA class
mRNA
Alias
Ras Association Domain Family Member 1 RDA32 REH3P21 NORE2A 123F2 Ras Association (RalGDS/AF-6) Domain Family Member 1 Ras Association Domain-Containing Protein 1 Pancreas-Specific Ras Association Domain Family 1 Protein Cardiac-Specific Ras Association Domain Family 1 Protein Tumor Suppressor Protein RDA32 WUGSC:H_LUCA12.5 RASSF1A
Location (GRCh38)
3:50329782-50340980
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_007182.5
Sequence length
1847.0 nt
GC content
0.5939

Transcripts

ID Sequence Length GC content
NM_001206957.2 NCBI
AAAGCCAGCGAAGCACGGGCCCAACCGGGCCAUGUCGGGGGAGCCUGAG… 1740 nt 0.5879
NM_007182.5 NCBI
AAAGCCAGCGAAGCACGGGCCCAACCGGGCCAUGUCGGGGGAGCCUGAG… 1847 nt 0.5939
NM_170712.3 NCBI
GUGCUAGGCGAUAGAGAUCCAACUGUUGAGCAGGCCUCUCUGCCUGUGG… 1676 nt 0.5710
NM_170713.3 NCBI
AGUCUUAACGGUUGCGGCGCGGCUCUGGCCCGGGCGCACGCGCACACUG… 1737 nt 0.5809
NM_170714.2 NCBI
AAAGCCAGCGAAGCACGGGCCCAACCGGGCCAUGUCGGGGGAGCCUGAG… 1859 nt 0.5944
Summary

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]

Forensic Context

A study in human ovarian cancer samples identified the RASSF1 as a tumor suppressor gene with promoter hypermethylation, included in the DNA methylation dimension of a multi-dimensional module (md-module 119) that was part of the bladder cancer pathway [Zhang et al. DOI:10.1093/nar/gks725].