Gcn1 MGI Mouse Gene Detail - MGI:2444248 - GCN1 activator of EIF2AK4

Symbol

Gcn1
Name

GCN1 activator of EIF2AK4
Synonyms

G431004K08Rik, GCN1L, Gcn1l1, mKIAA0219

Feature Type

protein coding gene
IDs

MGI:2444248
NCBI Gene: 231659
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr5:115703313-115760713 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 56.10 cM
Mapping Data

2 experiments

SNPs within 2kb

1637 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444248	protein coding gene	Chr5:115703177-115760713 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029974	protein coding gene	Chr5:118466564-118527952 (+)
A/J	MGP_AJ_G0029938	protein coding gene	Chr5:113743828-113801330 (+)
AKR/J	MGP_AKRJ_G0029877	protein coding gene	Chr5:117386980-117447332 (+)
BALB/cJ	MGP_BALBcJ_G0029949	protein coding gene	Chr5:115142841-115200107 (+)
C3H/HeJ	MGP_C3HHeJ_G0029669	protein coding gene	Chr5:117904084-117963447 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030404	protein coding gene	Chr5:123017935-123079632 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027631	protein coding gene	Chr5:108514717-108573234 (+)
CAST/EiJ	MGP_CASTEiJ_G0029078	protein coding gene	Chr5:116849682-116910601 (+)
CBA/J	MGP_CBAJ_G0029637	protein coding gene	Chr5:127750640-127809923 (+)
DBA/2J	MGP_DBA2J_G0029787	protein coding gene	Chr5:113829975-113887989 (+)
FVB/NJ	MGP_FVBNJ_G0029743	protein coding gene	Chr5:112648204-112708355 (+)
LP/J	MGP_LPJ_G0029875	protein coding gene	Chr5:119021644-119089897 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029774	protein coding gene	Chr5:132050715-132109963 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030445	protein coding gene	Chr5:116864339-116924261 (+)
PWK/PhJ	MGP_PWKPhJ_G0028791	protein coding gene	Chr5:112476062-112536311 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028629	protein coding gene	Chr5:114409501-114471268 (+)
WSB/EiJ	MGP_WSBEiJ_G0029153	protein coding gene	Chr5:117464088-117522436 (+)

Human Ortholog

GCN1, GCN1 activator of EIF2AK4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GCN1, GCN1 activator of EIF2AK4
Synonyms

GCN1L, GCN1L1, PRIC295
Links

HGNC:4199

NCBI Gene ID: 10985

neXtProt AC: NX_Q92616

UniProt: Q92616
Chr Location

12q24.23; chr12:120127202-120194715 (-) GRCh38

MGI Vertebrate Homology

Gcn1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GCN1
Gene Tree

Gcn1

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Phenotype Summary

23 phenotypes from 3 alleles in 3 genetic backgrounds
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

53
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

43
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Gcn1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

138 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit embryonic lethality and severe embryonic growth retardation. Mice homozygous for a deletion of the RWD binding domain show milder embryonic growth retardation, perinatal lethality due to respiratory failure, and cell cycle and proliferation defects.

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All GO Annotations

23
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

725
Tissues

19
cDNA Data

15
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gcn1

ZFIN gcn1

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All Sequences

69
RefSeq

3
UniProt

9
CCDS

CCDS19595.1

Ensembl

ENSMUSG00000041638 (Evidence)
NCBI Gene

231659

			Length	Strain/Species	Flank
genomic	ENSMUSG00000041638	Ensembl Gene Model \| MGI Sequence Detail	57401	C57BL/6J	± kb
transcript	ENSMUST00000064454	Ensembl \| MGI Sequence Detail	8555	Not Applicable
polypeptide	ENSMUSP00000069432	Ensembl \| MGI Sequence Detail	2671	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000007901 stalled ribosome sensor GCN1

(term hierarchy)
InterPro Domains

IPR000225 Armadillo

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR021133 HEAT, type 2

IPR034085 TOG domain
GlyGen

E9PVA8 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 16

cDNA 15

Primer pair 1

Microarray probesets 6

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MGI:2141013, MGI:6286358

Summaries

All 49

Developmental Gene Expression 1

Gene Ontology 9

Phenotypes 20
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Gcn1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr48316	Chr5:115703315-115703340 (+)	15 bp
Tssr48317	Chr5:115713207-115713266 (+)	9,924 bp
Tssr48318	Chr5:115743701-115743710 (+)	40,393 bp
Tssr48319	Chr5:115748502-115748503 (+)	45,190 bp
Tssr48320	Chr5:115749900-115749912 (+)	46,593 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24