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

Summary

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 actin binding activity and ribosome binding activity. Predicted to be involved in several processes, including GCN2-mediated signaling; cellular response to starvation; and negative regulation of nitrogen compound metabolic process. Predicted to be located in cytoplasm. Predicted to be part of polysome. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 18q11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (24426670..24453531)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (24620981..24647841)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (22006634..22033495)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH81003 (e-PCR)
- UniSTS:87101

STS-W37416 (e-PCR)
- UniSTS:38768

STS-AA018822 (e-PCR)
- UniSTS:49313

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 protein phosphorylation	IEA Inferred from Electronic Annotation 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)

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