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RASSF1 Ras association domain family member 1 [ Homo sapiens (human) ]

Gene ID: 11186, updated on 23-Apr-2019

Summary

Official Symbol
RASSF1provided by HGNC
Official Full Name
Ras association domain family member 1provided by HGNC
Primary source
HGNC:HGNC:9882
See related
Ensembl:ENSG00000068028 MIM:605082
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
123F2; RDA32; NORE2A; RASSF1A; REH3P21
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]
Expression
Ubiquitous expression in bone marrow (RPKM 19.8), spleen (RPKM 15.6) and 25 other tissues See more
Orthologs

Genomic context

See RASSF1 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (50329786..50340936, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50367217..50378367, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene hyaluronidase 2 Neighboring gene tumor suppressor 2, mitochondrial calcium regulator Neighboring gene RASSF1 antisense RNA 1 Neighboring gene zinc finger MYND-type containing 10 Neighboring gene NPR2 like, GATOR1 complex subunit Neighboring gene cytochrome b561 family member D2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Bladder Cancer, organism-specific biosystem (from WikiPathways)
    Bladder Cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
  • Bladder cancer, organism-specific biosystem (from KEGG)
    Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
  • Bladder cancer, conserved biosystem (from KEGG)
    Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway -multiple species, organism-specific biosystem (from KEGG)
    Hippo signaling pathway -multiple species, organism-specific biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...
  • Hippo signaling pathway -multiple species, conserved biosystem (from KEGG)
    Hippo signaling pathway -multiple species, conserved biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
    Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
  • Non-small cell lung cancer, conserved biosystem (from KEGG)
    Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
    p53 pathway, organism-specific biosystem
    p53 pathway

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras association domain-containing protein 1
Names
Ras association (RalGDS/AF-6) domain family member 1
WUGSC:H_LUCA12.5
cardiac-specific ras association domain family 1 protein
pancreas-specific ras association domain family 1 protein
tumor suppressor protein RDA32

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023270.1 RefSeqGene

    Range
    5001..16151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206957.1NP_001193886.1  ras association domain-containing protein 1 isoform B

    See identical proteins and their annotated locations for NP_001193886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (H) lacks an alternate coding exon compared to variant D, that causes a frameshift. The resulting isoform (B) is shorter at the N-terminus compared to isoform D. Variants B and H both encode the same isoform (B).
    Source sequence(s)
    AF132677, AF286217, BM562405
    Consensus CDS
    CCDS2822.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000482696.1, ENST00000616212.4
    Conserved Domains (2) summary
    cd01778
    Location:43138
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam16517
    Location:144183
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  2. NM_007182.4NP_009113.3  ras association domain-containing protein 1 isoform A

    See identical proteins and their annotated locations for NP_009113.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) lacks an in-frame coding segment compared to variant D, resulting an isoform (A) that lacks an internal region, as compared to isoform D.
    Source sequence(s)
    AF132675, BC110412, BI966696, BM152368
    Consensus CDS
    CCDS43096.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000352323.4, ENST00000359365.8
    Conserved Domains (3) summary
    cd01778
    Location:194289
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam00130
    Location:52101
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam16517
    Location:295334
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  3. NM_170712.2NP_733830.1  ras association domain-containing protein 1 isoform B

    See identical proteins and their annotated locations for NP_733830.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 5' end region compared to variant D. The resulting isoform (B) has a shorter N-terminus, as compared to isoform D. Variants B and H both encode the same isoform (B).
    Source sequence(s)
    AF132677, BC110412
    Consensus CDS
    CCDS2822.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000378558.3, ENST00000395126.7
    Conserved Domains (2) summary
    cd01778
    Location:43138
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam16517
    Location:144183
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  4. NM_170713.2NP_733831.1  ras association domain-containing protein 1 isoform C

    See identical proteins and their annotated locations for NP_733831.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) differs in the 5' end region compared to variant D. The resulting isoform (C) has a distinct and shorter N-terminus, as compared to isoform D.
    Source sequence(s)
    AF132677, BI915594
    Consensus CDS
    CCDS2821.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000333327.3, ENST00000327761.7
    Conserved Domains (2) summary
    cd01778
    Location:124219
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam16517
    Location:225264
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  5. NM_170714.1NP_733832.1  ras association domain-containing protein 1 isoform D

    See identical proteins and their annotated locations for NP_733832.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) encodes isoform D, which is one of the two longest isoforms.
    Source sequence(s)
    AF102771, BC110412, BE247372, BI966696
    Consensus CDS
    CCDS2820.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000349547.2, ENST00000357043.6
    Conserved Domains (3) summary
    cd01778
    Location:198293
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam00130
    Location:52105
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam16517
    Location:299338
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    50329786..50340936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453328.1XP_024309096.1  ras association domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    cd01778
    Location:124219
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam16517
    Location:225264
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  2. XM_011533316.2XP_011531618.1  ras association domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011531618.1

    UniProtKB/Swiss-Prot
    Q9NS23
    Conserved Domains (2) summary
    cd01778
    Location:43138
    RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
    pfam16517
    Location:144183
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_170715.1: Suppressed sequence

    Description
    NM_170715.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_170716.1: Suppressed sequence

    Description
    NM_170716.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_170717.1: Suppressed sequence

    Description
    NM_170717.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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