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    RASSF7 Ras association domain family member 7 [ Homo sapiens (human) ]

    Gene ID: 8045, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RASSF7provided by HGNC
    Official Full Name
    Ras association domain family member 7provided by HGNC
    Primary source
    HGNC:HGNC:1166
    See related
    Ensembl:ENSG00000099849 MIM:143023; AllianceGenome:HGNC:1166
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HRC1; FAP88; HRAS1; CFAP88; C11orf13
    Summary
    Predicted to be involved in apoptotic process and signal transduction. Located in centriolar satellite. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in stomach (RPKM 14.8), colon (RPKM 12.6) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See RASSF7 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (560970..564025)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (607974..611029)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (560970..564025)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 56 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:533792-534649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:534650-535506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:535528-536235 Neighboring gene HRas proto-oncogene, GTPase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:540668-541490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:543860-544362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:544865-545366 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:548147-548965 and GRCh37_chr11:548966-549783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:556675-557511 Neighboring gene lamin tail domain containing 2 Neighboring gene LMNTD2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:561773-562348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:565694-566248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:566249-566803 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:569389-570139 Neighboring gene MIR210 host gene Neighboring gene translation initiation factor IF-2-like Neighboring gene microRNA 210 Neighboring gene uncharacterized LOC143666

    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. The HRAS1 gene cluster: two upstream regions recognizing transcripts and a third encoding a gene with a leucine zipper domain. Weitzel JN, et al. Genomics, 1992 Oct. PMID 1339391
    2. RASSF7 expression and its regulatory roles on apoptosis in human intervertebral disc degeneration. Liu ZH, et al. Int J Clin Exp Pathol, 2015. PMID 26884887, Free PMC Article
    3. RASSF7 negatively regulates pro-apoptotic JNK signaling by inhibiting the activity of phosphorylated-MKK7. Takahashi S, et al. Cell Death Differ, 2011 Apr. PMID 21278800, Free PMC Article
    4. Truncated RASSF7 promotes centrosomal defects and cell death. Gulsen T, et al. Dev Biol, 2016 Jan 15. PMID 26569555
    5. [Study of HRas1 minisatellite frequencies in children with thyroid papillary cancer]. Iarmolinskiĭ DG, et al. Tsitol Genet, 2004 Jan-Feb. PMID 15098441

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RASSF7 competed with MAX in the formation of a heterodimeric complex with c-Myc and attenuated its occupancy on target gene promoters to regulate transcription.
      Title: The non-enzymatic RAS effector RASSF7 inhibits oncogenic c-Myc function.
    2. RASSF7 promotes cell proliferation through activating MEK1/MEK2-ERK1/ERK2 signaling pathway in hepatocellular carcinoma.
      Title: RASSF7 promotes cell proliferation through activating MEK1/2-ERK1/2 signaling pathway in hepatocellular carcinoma.
    3. Suggest that loss of RASSF7 expression results in apoptosis in nucleus pulposus cells in human intervertebral disc degeneration.
      Title: RASSF7 expression and its regulatory roles on apoptosis in human intervertebral disc degeneration.
    4. truncated RASSF7 could act as an oncogene in a small subset of tumours where it is mutated in this way.
      Title: Truncated RASSF7 promotes centrosomal defects and cell death.
    5. The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma.
      Title: The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma.
    6. RASSF7 acts in concert with N-Ras to constitute a stress-sensitive temporary mechanism of apoptotic regulation.
      Title: RASSF7 negatively regulates pro-apoptotic JNK signaling by inhibiting the activity of phosphorylated-MKK7.
    7. RASSF7 regulates the microtubule cytoskeleton and is required for spindle formation, Aurora B activation and chromosomal congression during mitosis.
      Title: Human RASSF7 regulates the microtubule cytoskeleton and is required for spindle formation, Aurora B activation and chromosomal congression during mitosis.
    8. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Human longevity and 11p15.5: a study in 1321 centenarians.
    9. "rare" alleles of HRas1 minisatellite are associated with increased risk of papillary thyroid cancer formation in children and adolescents after Chernobyl accident
      Title: [Study of HRas1 minisatellite frequencies in children with thyroid papillary cancer].
    Submit: New GeneRIF Correction

    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

    Clone Names

    • MGC126069, MGC126070

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras association domain-containing protein 7
    Names
    HRAS1-related cluster protein 1
    HRAS1-related cluster-1
    Ras association (RalGDS/AF-6) domain family (N-terminal) member 7
    Ras association (RalGDS/AF-6) domain family 7

    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.

    mRNA and Protein(s)

    1. NM_001143993.2 → NP_001137465.1  ras association domain-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001137465.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 5' UTR and 3' coding region, compared to variant 1. These differences result in a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL535761, AP006284, BC106921, CA315057
      Consensus CDS
      CCDS44506.1
      UniProtKB/TrEMBL
      A0A0G2JLR5
      Related
      ENSP00000380712.3, ENST00000397582.7
      Conserved Domains (1) summary
      smart00314
      Location:8 → 88
      RA; Ras association (RalGDS/AF-6) domain

    2. NM_001143994.2 → NP_001137466.1  ras association domain-containing protein 7 isoform 3

      See identical proteins and their annotated locations for NP_001137466.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, compared to variant 1. This difference results in a frameshift and a protein (isoform 3) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AP006284, BC106921, BC106922, CA315057
      Consensus CDS
      CCDS44505.1
      UniProtKB/TrEMBL
      A0A0G2JLR5
      Related
      ENSP00000405606.2, ENST00000454668.2
      Conserved Domains (1) summary
      smart00314
      Location:8 → 88
      RA; Ras association (RalGDS/AF-6) domain

    3. NM_003475.4 → NP_003466.1  ras association domain-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_003466.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP006284, BC106921, CA315057
      Consensus CDS
      CCDS7702.1
      UniProtKB/Swiss-Prot
      G5E9N9, Q02833, Q3KP41, Q3KP42
      UniProtKB/TrEMBL
      A0A0G2JMW4
      Related
      ENSP00000380713.3, ENST00000397583.8
      Conserved Domains (3) summary
      pfam00788
      Location:8 → 86
      RA; Ras association (RalGDS/AF-6) domain
      cl25363
      Location:123 → 199
      VirB10_like; VirB10 and similar proteins form part of core complex in Type IV secretion system (T4SS)
      cl25732
      Location:177 → 294
      SMC_N; RecF/RecN/SMC N terminal 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      560970..564025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      90626..93681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      607974..611029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02833.1 GenPept UniProtKB/Swiss-Prot:Q02833

    Gene LinkOut

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

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