Ndufaf1 MGI Mouse Gene Detail - MGI:1916952 - NADH:ubiquinone oxidoreductase complex assembly factor 1

Symbol

Ndufaf1
Name

NADH:ubiquinone oxidoreductase complex assembly factor 1
Synonyms

2410001M24Rik, CGI-65, CIA30

Feature Type

protein coding gene
IDs

MGI:1916952
NCBI Gene: 69702
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:119485927-119493302 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 59.97 cM, cytoband E5
Mapping Data

2 experiments

SNPs within 2kb

232 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916952	protein coding gene	Chr2:119485927-119493308 (-)
129S1/SvImJ	ENSMUSG00200046359	protein coding gene	Chr2:116431568-116440651 (-)
A/J	ENSMUSG00195022513	protein coding gene	Chr2:116478270-116486797 (-)
AKR/J	ENSMUSG00220036782	protein coding gene	Chr2:116396969-116409306 (-)
BALB/cJ	ENSMUSG00180038869	protein coding gene	Chr2:116278639-116287166 (-)
C3H/HeJ	ENSMUSG00175024631	protein coding gene	Chr2:116743840-116752382 (-)
C57BL/6NJ	ENSMUSG00215020602	protein coding gene	Chr2:116403318-116410696 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024149	protein coding gene	Chr2:112493090-112501416 (-)
CAST/EiJ	ENSTCUG00005016080	protein coding gene	Chr2:115683400-115691921 (-)
CBA/J	ENSMUSG00210006951	protein coding gene	Chr2:116584830-116593371 (-)
DBA/2J	ENSMUSG00185041407	protein coding gene	Chr2:116276361-116284888 (-)
FVB/NJ	ENSMUSG00205039711	protein coding gene	Chr2:115497744-115510082 (-)
JF1/MsJ	ENSUMUG00000021159	protein coding gene	Chr2:116152036-116159411 (-)
LP/J	ENSMUSG00230020756	protein coding gene	Chr2:118091240-118100323 (-)
NOD/ShiLtJ	ENSMUSG00190044428	protein coding gene	Chr2:116513018-116521558 (-)
NZO/HlLtJ	ENSMUSG00225003752	protein coding gene	Chr2:125987609-126000166 (-)
PWK/PhJ	ENSLUMG00010046472	protein coding gene	Chr2:116052626-116059968 (-)
SPRET/EiJ	no annotation
WSB/EiJ	ENSIUOG00005024312	protein coding gene	Chr2:116240287-116248814 (-)

Human Ortholog

NDUFAF1, NADH:ubiquinone oxidoreductase complex assembly factor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NDUFAF1, NADH:ubiquinone oxidoreductase complex assembly factor 1
Synonyms

CGI-65, CGI65, CIA30, MC1DN11
Links

HGNC:18828

NCBI Gene ID: 51103

UniProt: Q9Y375
Chr Location

15q15.1; chr15:41387218-41409403 (-) GRCh38

MGI Vertebrate Homology

Ndufaf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NDUFAF1
Gene Tree

Ndufaf1

Diseases

1 with human NDUFAF1 associations

				Human Disease	Mouse Models
				nuclear type mitochondrial complex I deficiency 11 IDs nuclear type mitochondrial complex I deficiency 11 DOID:0112089 OMIM:618234

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

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Phenotype Summary

14 phenotype references

All Mutations and Alleles

17
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

10
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Ndufaf1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

25 strains or lines available

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All GO Annotations

13
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	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

604
Tissues

2
cDNA Data

34
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ndufaf1

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All Sequences

56
RefSeq

17
UniProt

3
CCDS

CCDS38207.1

Ensembl

ENSMUSG00000027305 (Evidence)
NCBI Gene

69702

			Length	Strain/Species	Flank
genomic	69702	NCBI Gene Model \| MGI Sequence Detail	7376	C57BL/6J	± kb
transcript	NR_176093	RefSeq \| MGI Sequence Detail	1638	C57BL/6
polypeptide	Q9CWX2	UniProt \| EBI \| MGI Sequence Detail	328	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000031907 complex I intermediate-associated protein 30, mitochondrial

(term hierarchy)
EC

1.6.5.3
InterPro Domains

IPR039131 Complex I intermediate-associated protein 30, mitochondrial

IPR008979 Galactose-binding-like domain superfamily

IPR013857 NADH:ubiquinone oxidoreductase intermediate-associated protein 30

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All nucleic 36

cDNA 34

Primer pair 2

Microarray probesets 4

Summaries

All 43

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 14
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:326556 Wang Y, et al., DDX1 vesicles control calcium-dependent mitochondrial activity in mouse embryos. Nat Commun. 2022 Jul 1;13(1):3794

TSS for Ndufaf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr25825	Chr2:119493237-119493316 (-)	25 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 09/01/2026 MGI 6.24