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

Gene ID: 55364, updated on 2-Nov-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, Nov 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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