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

Gene ID: 11186, updated on 12-Sep-2021

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
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Genomic context

See RASSF1 in Genome Data Viewer
Location:
3p21.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (50329786..50340836, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50367219..50378267, 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

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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
    5101..16149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206957.2NP_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
    Consensus CDS
    CCDS2822.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000482696.1, ENST00000616212.4
    Conserved Domains (2) summary
    pfam16517
    Location:145183
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
    cl28922
    Location:1135
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  2. NM_007182.5NP_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
    Consensus CDS
    CCDS43096.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000352323.4, ENST00000359365.9
    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_170712.3NP_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)
    AC002481, BC110412
    Consensus CDS
    CCDS2822.1
    UniProtKB/Swiss-Prot
    Q9NS23
    Related
    ENSP00000378558.3, ENST00000395126.7
    Conserved Domains (2) summary
    pfam16517
    Location:145183
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
    cl28922
    Location:1135
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  4. NM_170713.3NP_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
    cd17218
    Location:60216
    RA_RASSF1; Ras-associating (RA) domain found in Ras-association domain-containing protein 1 (RASSF1)
    pfam16517
    Location:226264
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  5. NM_170714.2NP_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
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    50329786..50340836 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
    cd17218
    Location:60216
    RA_RASSF1; Ras-associating (RA) domain found in Ras-association domain-containing protein 1 (RASSF1)
    pfam16517
    Location:226264
    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
    pfam16517
    Location:145183
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
    cl28922
    Location:1135
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

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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