Atp5f1d MGI Mouse Gene Detail - MGI:1913293 - ATP synthase F1 subunit delta

Symbol

Atp5f1d
Name

ATP synthase F1 subunit delta
Synonyms

0610008F14Rik, 1500000I11Rik, Atp5d

Feature Type

protein coding gene
IDs

MGI:1913293
NCBI Gene: 66043
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr10:79974466-79981652 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM, cytoband C1
Mapping Data

3 experiments

SNPs within 2kb

125 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913293	protein coding gene	Chr10:79974451-79981662 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017484	protein coding gene	Chr10:80723728-80730960 (+)
A/J	MGP_AJ_G0017462	protein coding gene	Chr10:77900285-77907469 (+)
AKR/J	MGP_AKRJ_G0017423	protein coding gene	Chr10:80028573-80035763 (+)
BALB/cJ	MGP_BALBcJ_G0017424	protein coding gene	Chr10:78123931-78131122 (+)
C3H/HeJ	MGP_C3HHeJ_G0017247	protein coding gene	Chr10:80127214-80134419 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017878	protein coding gene	Chr10:83506476-83513668 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015566	protein coding gene	Chr10:74125345-74132537 (+)
CAST/EiJ	MGP_CASTEiJ_G0016814	protein coding gene	Chr10:80327711-80337402 (+)
CBA/J	MGP_CBAJ_G0017219	protein coding gene	Chr10:86745726-86752938 (+)
DBA/2J	MGP_DBA2J_G0017325	protein coding gene	Chr10:77116356-77125464 (+)
FVB/NJ	MGP_FVBNJ_G0017319	protein coding gene	Chr10:76302543-76309730 (+)
LP/J	MGP_LPJ_G0017396	protein coding gene	Chr10:81203416-81210328 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017345	protein coding gene	Chr10:88696399-88703588 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017919	protein coding gene	Chr10:80009080-80016268 (+)
PWK/PhJ	MGP_PWKPhJ_G0016595	protein coding gene	Chr10:76985326-76992513 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016384	protein coding gene	Chr10:78990123-78997252 (+)
WSB/EiJ	MGP_WSBEiJ_G0016874	protein coding gene	Chr10:80040741-80050085 (+)

Human Ortholog

ATP5F1D, ATP synthase F1 subunit delta

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP5F1D, ATP synthase F1 subunit delta
Synonyms

ATP5D, MC5DN5
Links

HGNC:837

NCBI Gene ID: 513

neXtProt AC: NX_P30049

UniProt: P30049
Chr Location

19p13.3; chr19:1241746-1244825 (+) GRCh38

MGI Vertebrate Homology

Atp5f1d stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATP5F1D
Gene Tree

Atp5f1d

Diseases

1 with human ATP5F1D associations

				Human Disease	Mouse Models
				mitochondrial complex V (ATP synthase) deficiency nuclear type 5 IDs mitochondrial complex V (ATP synthase) deficiency nuclear type 5 DOID:0070463 OMIM:618120

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

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Phenotype Summary

3 phenotypes from 1 allele in 2 genetic backgrounds
1 images
13 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
Endonuclease-mediated

1
Gene trapped

2
Targeted

2
Genomic Mutations

1 involving Atp5f1d
Find Mice (IMSR)

6 strains or lines available

Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. In vitro, blastocysts fail to hatch from the zona pellucida after 3 days in culture.

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All GO Annotations

25
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

830
Tissues

100
cDNA Data

395
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atp5f1d

ZFIN atp5f1d

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All Sequences

74
RefSeq

16
UniProt

5
CCDS

CCDS24010.1, CCDS83726.1

Ensembl

ENSMUSG00000003072 (Evidence)
NCBI Gene

66043

			Length	Strain/Species	Flank
genomic	ENSMUSG00000003072	Ensembl Gene Model \| MGI Sequence Detail	7187	C57BL/6J	± kb
transcript	ENSMUST00000003156	Ensembl \| MGI Sequence Detail	931	Not Applicable
polypeptide	ENSMUSP00000003156	Ensembl \| MGI Sequence Detail	168	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004456 ATP synthase subunit delta, mitochondrial

(term hierarchy)
InterPro Domains

IPR036794 ATP synthase delta/epsilon subunit, C-terminal domain superfamily

IPR001469 ATP synthase, F1 complex, delta/epsilon subunit

IPR020546 ATP synthase, F1 complex, delta/epsilon subunit, N-terminal

IPR036771 F0F1 ATP synthase delta/epsilon subunit, N-terminal

IPR048937 F1F0-ATP synthase delta subunit, C-terminal domain, metazoan
GlyGen

Q9D3D9 1 site, 1 O-linked glycan (1 site)

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All nucleic 396

cDNA 395

Primer pair 1

Microarray probesets 5

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MGI:1924154, MGI:2143512, MGI:2143703, MGI:2143772, MGI:2143942, MGI:7469635

Summaries

All 48

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 13
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

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

TSS for Atp5f1d:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94487	Chr10:79977387-79977409 (+)	2,932 bp
Tssr94488	Chr10:79978113-79978124 (+)	3,653 bp
Tssr94489	Chr10:79978129-79978145 (+)	3,671 bp
Tssr94490	Chr10:79978168-79978187 (+)	3,712 bp
Tssr94491	Chr10:79978192-79978238 (+)	3,749 bp
Tssr94492	Chr10:79978243-79978257 (+)	3,784 bp
Tssr94493	Chr10:79978355-79978360 (+)	3,892 bp
Tssr94494	Chr10:79978373-79978378 (+)	3,910 bp
Tssr94495	Chr10:79981249-79981299 (+)	6,808 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)
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