GCN1 GCN1 activator of EIF2AK4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GCN1provided by HGNC
Official Full Name: GCN1 activator of EIF2AK4provided by HGNC
Primary source: HGNC:HGNC:4199
See related: Ensembl:ENSG00000089154 MIM:605614; AllianceGenome:HGNC:4199
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: GCN1L; GCN1L1; PRIC295
Summary: Enables molecular adaptor activity and stalled ribosome sensor activity. Involved in protein-RNA covalent cross-linking repair. Located in cytosol. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.23

Exon count:: 58

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (120127202..120194715, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (120114374..120181877, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (120565006..120632518, complement)

Chromosome 12 - NC_000012.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Emerging Role of GCN1 in Disease and Homeostasis.
Title: Emerging Role of GCN1 in Disease and Homeostasis.
An E3 ligase network engages GCN1 to promote the degradation of translation factors on stalled ribosomes.
Title: An E3 ligase network engages GCN1 to promote the degradation of translation factors on stalled ribosomes.
The genomic and clinical landscape of fetal akinesia.
Title: The genomic and clinical landscape of fetal akinesia.
These findings suggest that GCN1 can regulate eIF2alpha phosphorylation in HSV-1-infected cells and that the GCN1-binding viral partner simplexvirus gH is necessary and sufficient to prevent the accumulation of phosphorylated eIF2alpha.
Title: Interactome analysis of herpes simplex virus 1 envelope glycoprotein H.

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

WI-15308 (e-PCR)
- UniSTS:2822

RH48432 (e-PCR)
- UniSTS:29756

RH25426 (e-PCR)
- UniSTS:58454

GCN1L1 (e-PCR)
- UniSTS:504193

NoName (e-PCR)
- UniSTS:487355

G41318 (e-PCR)
- UniSTS:53203

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables stalled ribosome sensor activity	IDA Inferred from Direct Assay more info	PubMed
enables translation factor activity, RNA binding	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin-protein transferase regulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in GCN2-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to amino acid starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein-RNA covalent cross-linking repair	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in ribosome	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: stalled ribosome sensor GCN1

Names: GCN1 (general control of amino-acid synthesis 1, yeast)-like 1; GCN1 eIF-2-alpha kinase activator homolog; GCN1 general control of amino-acid synthesis 1-like 1; GCN1, eIF2 alpha kinase activator homolog; GCN1-like protein 1; eIF-2-alpha kinase activator GCN1; general control of amino-acid synthesis 1-like protein 1; hsGCN1; peroxisome proliferator activated receptor interacting complex protein; translational activator GCN1

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_006836.2 → NP_006827.1 stalled ribosome sensor GCN1

See identical proteins and their annotated locations for NP_006827.1

Status: VALIDATED

Source sequence(s)

AC004263, AC004812, BC021129, BQ929459, BU186578, D86973, U88837

Consensus CDS

CCDS41847.1

UniProtKB/Swiss-Prot

A8KAY1, O95001, O95651, Q6P2S3, Q86X65, Q8N5I5, Q8WU80, Q92616, Q99736, Q9UE60

UniProtKB/TrEMBL

E1NZA1

Related

ENSP00000300648.6, ENST00000300648.7

Conserved Domains (4) summary

cd00020
Location:1498 → 1601

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam12074
Location:357 → 705

DUF3554; Domain of unknown function (DUF3554)

pfam13646
Location:1616 → 1721

HEAT_2; HEAT repeats

sd00044
Location:1461 → 1485

HEAT; HEAT repeat [structural motif]