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

    Gene ID: 11186, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:9882
    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
    mouse all
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    Genomic context

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    See RASSF1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50329788..50340836, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50359511..50370560, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr3:50357211-50357884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14391 Neighboring gene hyaluronidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50359913-50360586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50361369-50361870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14392 Neighboring gene tumor suppressor 2, mitochondrial calcium regulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50374977-50375548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19903 Neighboring gene RASSF1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50377372-50378195 and GRCh37_chr3:50378196-50379018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50380164-50380746 Neighboring gene zinc finger MYND-type containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50382474-50383024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50383025-50383575 Neighboring gene NPR2 like, GATOR1 complex subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. [Study of RASSF1A expression and promoter demethylation in Hep-2 cell line]. Yang J, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2011 Jan. PMID 21473137
    2. Frequent hypermethylation of RASSF1A and TSLC1, and high viral load of Epstein-Barr Virus DNA in nasopharyngeal carcinoma and matched tumor-adjacent tissues. Zhou L, et al. Neoplasia, 2005 Sep. PMID 16229803, Free PMC Article
    3. Aberrant hypermethylation of RASSF1A promoter in ovarian borderline tumors and carcinomas. Choi YL, et al. Virchows Arch, 2006 Mar. PMID 16315018
    4. RASSF1A gene methylation is associated with nasopharyngeal carcinoma risk in Chinese. Wu K, et al. Asian Pac J Cancer Prev, 2015. PMID 25824751
    5. [The RASSF1 (Ras association domain family protein 1) gene. Category: tumor suppressor gene]. . Bull Cancer, 2005 Nov. PMID 16316825

    See all (516) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of the SHOX2 and RASSF1A methylation levels with the pathological evolution of early-stage lung adenocarcinoma.
      Title: Association of the SHOX2 and RASSF1A methylation levels with the pathological evolution of early-stage lung adenocarcinoma.
    2. Diagnostic Value of GSTP1, RASSF1, AND RASSF2 Methylation in Serum of Prostate Cancer Patients.
      Title: Diagnostic Value of GSTP1, RASSF1, AND RASSF2 Methylation in Serum of Prostate Cancer Patients.
    3. Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas.
      Title: Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas.
    4. RASSF1A promotes ATM signaling and RASSF1A methylation is a synthetic lethal marker for ATR inhibitors.
      Title: RASSF1A promotes ATM signaling and RASSF1A methylation is a synthetic lethal marker for ATR inhibitors.
    5. SEPT9, H4C6, and RASSF1A methylation in nasopharyngeal swabs: A reflection of potential minimally invasive biomarkers for early screening of nasopharyngeal cancer.
      Title: SEPT9, H4C6, and RASSF1A methylation in nasopharyngeal swabs: A reflection of potential minimally invasive biomarkers for early screening of nasopharyngeal cancer.
    6. WDR3 promotes stem cell-like properties in prostate cancer by inhibiting USF2-mediated transcription of RASSF1A.
      Title: WDR3 promotes stem cell-like properties in prostate cancer by inhibiting USF2-mediated transcription of RASSF1A.
    7. Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.
      Title: Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.
    8. RASSF1A inhibits epithelial-mesenchymal transition of gastric cancer cells by downregulating P-JNK.
      Title: RASSF1A inhibits epithelial-mesenchymal transition of gastric cancer cells by downregulating P-JNK.
    9. Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.
      Title: Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.
    10. RASSF1A disrupts the NOTCH signaling axis via SNURF/RNF4-mediated ubiquitination of HES1.
      Title: RASSF1A disrupts the NOTCH signaling axis via SNURF/RNF4-mediated ubiquitination of HES1.
    Submit: New GeneRIF Correction See all GeneRIFs (456)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_negative_effect regulation of cell cycle G1/S phase transition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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_001206957.2 → NP_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:145 → 183
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:1 → 135
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    2. NM_007182.5 → NP_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/TrEMBL
      Q17RX7
      Related
      ENSP00000352323.4, ENST00000359365.9
      Conserved Domains (3) summary
      cd01778
      Location:194 → 289
      RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
      pfam00130
      Location:52 → 101
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam16517
      Location:295 → 334
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    3. NM_170712.3 → NP_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:145 → 183
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:1 → 135
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    4. NM_170713.3 → NP_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/TrEMBL
      A8K9C3
      Related
      ENSP00000333327.3, ENST00000327761.7
      Conserved Domains (2) summary
      cd17218
      Location:60 → 216
      RA_RASSF1; Ras-associating (RA) domain found in Ras-association domain-containing protein 1 (RASSF1)
      pfam16517
      Location:226 → 264
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    5. NM_170714.2 → NP_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
      B7ZLL1, O14571, O60539, O60710, Q0VGC6, Q5TZT2, Q9HB04, Q9HB18, Q9NS22, Q9NS23, Q9UND4, Q9UND5
      UniProtKB/TrEMBL
      Q17RX7
      Related
      ENSP00000349547.2, ENST00000357043.6
      Conserved Domains (3) summary
      cd01778
      Location:198 → 293
      RASSF1_RA; Ubiquitin-like domain of RASSF1 tumour supproessor protein
      pfam00130
      Location:52 → 105
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam16517
      Location:299 → 338
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50329788..50340836 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447372.1 → XP_047303328.1  ras association domain-containing protein 1 isoform X1

    2. XM_011533316.3 → XP_011531618.1  ras association domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011531618.1

      UniProtKB/Swiss-Prot
      Q9NS23
      Conserved Domains (2) summary
      pfam16517
      Location:145 → 183
      Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
      cl28922
      Location:1 → 135
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50359511..50370560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345089.1 → XP_054201064.1  ras association domain-containing protein 1 isoform X2

    2. XM_054345090.1 → XP_054201065.1  ras association domain-containing protein 1 isoform X1

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS23.1 GenPept UniProtKB/Swiss-Prot:Q9NS23

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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