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    IMPACT impact RWD domain protein [ Homo sapiens (human) ]

    Gene ID: 55364, updated on 28-Oct-2024

    Summary

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    Official Symbol
    IMPACTprovided by HGNC
    Official Full Name
    impact RWD domain proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20387
    See related
    Ensembl:ENSG00000154059 MIM:615319; AllianceGenome:HGNC:20387
    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
    RWDD5
    Summary
    Predicted to enable protein sequestering activity. Predicted to be involved in several processes, including GCN2-mediated signaling; cellular response to amino acid starvation; and regulation of gene expression. Predicted to act upstream of or within negative regulation of protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.1), testis (RPKM 17.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IMPACT in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (24426670..24453531)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (24620981..24647841)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (22006634..22033495)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 1A Neighboring gene uncharacterized LOC124904267 Neighboring gene uncharacterized LOC124904268 Neighboring gene Sharpr-MPRA regulatory region 8214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:21964078-21964578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:21964579-21965079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:22005698-22006612 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:22006613-22007527 Neighboring gene MPRA-validated peak3074 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:22052464-22052964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13172 Neighboring gene histamine receptor H4 Neighboring gene uncharacterized LOC105372026 Neighboring gene zinc finger protein 470 pseudogene

    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. Comparative genome analysis of the mouse imprinted gene impact and its nonimprinted human homolog IMPACT: toward the structural basis for species-specific imprinting. Okamura K, et al. Genome Res, 2000 Dec. PMID 11116084
    2. Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder. Kosaki K, et al. Mol Psychiatry, 2001 Jan. PMID 11244491
    3. High expression of IMPACT protein promotes resistance to indoleamine 2,3-dioxygenase-induced cell death. Habibi D, et al. J Cell Physiol, 2010 Oct. PMID 20648630
    4. An evolutionary scenario for genomic imprinting of Impact lying between nonimprinted neighbors. Okamura K, et al. DNA Res, 2004 Dec 31. PMID 15871461
    5. Comparative genomics approach toward critical determinants for the imprinting of an evolutionarily conserved gene Impact. Okamura K, et al. Biochem Biophys Res Commun, 2005 Apr 15. PMID 15752730

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that high expression of protein IMPACT homolog in non-immune cells acts as a protective mechanism against indoleamine 2,3-dioxygenase (IDO)-induced GCN2 activation, making them resistant to the amino acid-deprived environment caused by IDO.
      Title: High expression of IMPACT protein promotes resistance to indoleamine 2,3-dioxygenase-induced cell death.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    3. segmental duplication followed by enhancement of the promoter activity is responsible for the species-specific imprinting of Impact
      Title: An evolutionary scenario for genomic imprinting of Impact lying between nonimprinted neighbors.
    4. It thus seems that lineage-specific enhancement of gene expression rather than the tandem repeat per se played a critical role in the evolution of imprinting of Impact.
      Title: Comparative genomics approach toward critical determinants for the imprinting of an evolutionarily conserved gene Impact.
    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

    • MGC33718

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein sequestering activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ribosome binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in GCN2-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GCN2-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cellular response to amino acid starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron projection extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cytoplasmic translational initiation in response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of translational initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein IMPACT
    Names
    Impact homolog
    RWD domain containing 5
    imprinted and ancient gene protein homolog

    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_018439.4 → NP_060909.2  protein IMPACT

      Status: VALIDATED

      Source sequence(s)
      AC007922
      Consensus CDS
      CCDS11886.1
      UniProtKB/Swiss-Prot
      A8MXG0, Q49AM0, Q9H2X4, Q9P2X3
      UniProtKB/TrEMBL
      A0A3B3ITH3
      Related
      ENSP00000284202.4, ENST00000284202.9
      Conserved Domains (2) summary
      smart00591
      Location:15 → 115
      RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain
      pfam01205
      Location:182 → 289
      UPF0029; Uncharacterized protein family UPF0029

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      24426670..24453531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      24620981..24647841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318780.1 → XP_054174755.1  protein IMPACT isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2X3.2 GenPept UniProtKB/Swiss-Prot:Q9P2X3

    Gene LinkOut

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

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