Gtpbp3 MGI Mouse Gene Detail - MGI:1917609

Symbol

Gtpbp3
Name

GTP binding protein 3
Synonyms

2410009F13Rik, Gtpbp3

Feature Type

protein coding gene
IDs

MGI:1917609
NCBI Gene: 70359
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr8:71940747-71952227 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 34.43 cM, cytoband C1
Mapping Data

4 experiments

SNPs within 2kb

98 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1917609	protein coding gene	Chr8:71938788-71952268 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033749	protein coding gene	Chr8:71886328-71898557 (+)
A/J	MGP_AJ_G0033732	protein coding gene	Chr8:68959253-68970692 (+)
AKR/J	MGP_AKRJ_G0033657	protein coding gene	Chr8:70992167-71005297 (+)
BALB/cJ	MGP_BALBcJ_G0033728	protein coding gene	Chr8:69130872-69141508 (+)
C3H/HeJ	MGP_C3HHeJ_G0033438	protein coding gene	Chr8:71571819-71582498 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034246	protein coding gene	Chr8:74626810-74638443 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031188	protein coding gene	Chr8:63599412-63610947 (+)
CAST/EiJ	MGP_CASTEiJ_G0032763	protein coding gene	Chr8:71036566-71047928 (+)
CBA/J	MGP_CBAJ_G0033416	protein coding gene	Chr8:77269615-77281467 (+)
DBA/2J	MGP_DBA2J_G0033570	protein coding gene	Chr8:68690266-68702398 (+)
FVB/NJ	MGP_FVBNJ_G0033512	protein coding gene	Chr8:67770389-67781535 (+)
LP/J	MGP_LPJ_G0033657	protein coding gene	Chr8:71861958-71874997 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033559	protein coding gene	Chr8:79824331-79835773 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034263	protein coding gene	Chr8:71057099-71067785 (+)
PWK/PhJ	MGP_PWKPhJ_G0032470	protein coding gene	Chr8:67965776-67977691 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032307	protein coding gene	Chr8:70003952-70015391 (+)
WSB/EiJ	MGP_WSBEiJ_G0032878	protein coding gene	Chr8:71405079-71416391 (+)

Human Ortholog

GTPBP3, GTP binding protein 3, mitochondrial

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GTPBP3, GTP binding protein 3, mitochondrial
Synonyms

COXPD23, GTPBG3, MSS1, MTGP1, THDF1
Links

HGNC:14880

NCBI Gene ID: 84705

neXtProt AC: NX_Q969Y2

UniProt: Q969Y2
Chr Location

19p13.11; chr19:17334920-17342731 (+) GRCh38

MGI Vertebrate Homology

Gtpbp3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GTPBP3
Gene Tree

Gtpbp3

Diseases

1 with human GTPBP3 associations

				Human Disease	Mouse Models
				combined oxidative phosphorylation deficiency 23 IDs combined oxidative phosphorylation deficiency 23 DOID:0111500 OMIM:616198 ORDO:444013

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
8 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

6
Chemically induced (other)

1
Gene trapped

3
Targeted

2
Genomic Mutations

1 involving Gtpbp3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

34 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit abnormalities in chorion, placenta and trophoblast layer morphology and partial preweaning lethality.

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All GO Annotations

10
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

9

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gtpbp3

ZFIN gtpbp3

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All Sequences

65
RefSeq

9
UniProt

5
CCDS

CCDS40384.1

Ensembl

ENSMUSG00000007610 (Evidence)
NCBI Gene

70359

			Length	Strain/Species	Flank
genomic	ENSMUSG00000007610	Ensembl Gene Model \| MGI Sequence Detail	11481	C57BL/6J	± kb
transcript	ENSMUST00000150969	Ensembl \| MGI Sequence Detail	2052	Not Applicable
polypeptide	ENSMUSP00000114193	Ensembl \| MGI Sequence Detail	492	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000008335 tRNA modification GTPase GTPBP3, mitochondrial

(term hierarchy)
InterPro Domains

IPR006073 GTP binding domain

IPR027266 GTP-binding protein TrmE/Aminomethyltransferase GcvT, domain 1

IPR018948 GTP-binding protein TrmE, N-terminal

IPR025867 MnmE, helical domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR005225 Small GTP-binding protein domain

IPR031168 TrmE-type guanine nucleotide-binding domain

IPR004520 tRNA modification GTPase MnmE

IPR027368 tRNA modification GTPase MnmE domain 2

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All nucleic 11

Genomic 2

cDNA 9

Microarray probesets 6

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MGI:2142594

Summaries

All 34

Gene Ontology 6

Phenotypes 8
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:261316 Perez-Garcia V, et al., Placentation defects are highly prevalent in embryonic lethal mouse mutants. Nature. 2018 Mar 22;555(7697):463-468

TSS for Gtpbp3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr77861	Chr8:71940487-71940511 (+)	-248 bp
Tssr77862	Chr8:71941359-71941387 (+)	626 bp
Tssr77863	Chr8:71941408-71941415 (+)	665 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