Guf1 MGI Mouse Gene Detail - MGI:2140726

Symbol

Guf1
Name

GUF1 homolog, GTPase
Synonyms

mtEF4

Feature Type

protein coding gene
IDs

MGI:2140726
NCBI Gene: 231279
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr5:69714255-69731995 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 37.13 cM
Mapping Data

1 experiment

SNPs within 2kb

68 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140726	protein coding gene	Chr5:69714255-69733316 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029603	protein coding gene	Chr5:69400895-69422782 (+)
A/J	MGP_AJ_G0029571	protein coding gene	Chr5:66797242-66816277 (+)
AKR/J	MGP_AKRJ_G0029519	protein coding gene	Chr5:68927429-68947079 (+)
BALB/cJ	MGP_BALBcJ_G0029580	protein coding gene	Chr5:67455870-67476179 (+)
C3H/HeJ	MGP_C3HHeJ_G0029303	protein coding gene	Chr5:69284025-69303772 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030034	protein coding gene	Chr5:72262084-72284569 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027274	protein coding gene	Chr5:62738024-62757166 (+)
CAST/EiJ	MGP_CASTEiJ_G0028711	protein coding gene	Chr5:68421607-68455069 (+)
CBA/J	MGP_CBAJ_G0029272	protein coding gene	Chr5:74613427-74634025 (+)
DBA/2J	MGP_DBA2J_G0029418	protein coding gene	Chr5:66828564-66847709 (+)
FVB/NJ	MGP_FVBNJ_G0029378	protein coding gene	Chr5:66068984-66089465 (+)
LP/J	MGP_LPJ_G0029503	protein coding gene	Chr5:69870629-69891100 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029406	protein coding gene	Chr5:77603170-77624986 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030067	protein coding gene	Chr5:68568320-68587338 (+)
PWK/PhJ	MGP_PWKPhJ_G0028435	protein coding gene	Chr5:65844938-65876209 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028269	protein coding gene	Chr5:67940977-67971412 (+)
WSB/EiJ	MGP_WSBEiJ_G0028791	protein coding gene	Chr5:68813779-68836545 (+)

Human Ortholog

GUF1, GTP binding elongation factor GUF1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GUF1, GTP binding elongation factor GUF1
Synonyms

DEE40, EF4, EF-4, EIEE40
Links

HGNC:25799

NCBI Gene ID: 60558

neXtProt AC: NX_Q8N442

UniProt: Q8N442
Chr Location

4p12; chr4:44678420-44700928 (+) GRCh38

MGI Vertebrate Homology

Guf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GUF1
Gene Tree

Guf1

Diseases

1 with human GUF1 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 40 IDs developmental and epileptic encephalopathy 40 DOID:0080427 OMIM:617065

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

11 phenotypes from 2 alleles in 2 genetic backgrounds
24 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

12
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

1
Radiation induced

1
Spontaneous

1
Targeted

4
Genomic Mutations

4 involving Guf1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit male infertility, decreased testis weight, oligozoospermia, asthenozoospermia, increased male germ cell apoptosis, and fractured or torn away sperm mitochondrial sheath with aberrant mitochondria that lack the inner-membrane system.

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All GO Annotations

9
GO References

6

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	non-membrane-bounded 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

706
cDNA Data

75

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase guf1

ZFIN guf1

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All Sequences

69
RefSeq

8
UniProt

5
CCDS

CCDS19322.1, CCDS80296.1

Ensembl

ENSMUSG00000029208 (Evidence)
NCBI Gene

231279

			Length	Strain/Species	Flank
genomic	231279	NCBI Gene Model \| MGI Sequence Detail	17741	C57BL/6J	± kb
transcript	NM_172711	RefSeq \| MGI Sequence Detail	5018	C57BL/6
polypeptide	Q8C3X4	UniProt \| EBI \| MGI Sequence Detail	651	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000008355 GTP-binding protein GUF1

(term hierarchy)
EC

3.6.5.-
InterPro Domains

IPR035647 EF-G domain III/V-like

IPR006297 Elongation factor 4

IPR035654 Elongation factor 4, domain IV

IPR000640 Elongation factor EFG, domain V-like

IPR013842 GTP-binding protein LepA, C-terminal

IPR038363 LepA, C-terminal domain superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR005225 Small GTP-binding protein domain

IPR000795 Translational (tr)-type GTP-binding domain

IPR004161 Translation elongation factor EFTu-like, domain 2

IPR009000 Translation protein, beta-barrel domain superfamily

IPR031157 Tr-type G domain, conserved site

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All nucleic 75

cDNA 75

Microarray probesets 3

Summaries

All 47

Gene Ontology 6

Phenotypes 24
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:333298 Gao Y, et al., Mammalian elongation factor 4 regulates mitochondrial translation essential for spermatogenesis. Nat Struct Mol Biol. 2016 May;23(5):441-9

TSS for Guf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr46598	Chr5:69714279-69714361 (+)	65 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 04/16/2024 MGI 6.23