Ndufaf5 MGI Mouse Gene Detail - MGI:1916737 - NADH:ubiquinone oxidoreductase complex assembly factor 5

Symbol

Ndufaf5
Name

NADH:ubiquinone oxidoreductase complex assembly factor 5
Synonyms

2310003L22Rik

Feature Type

protein coding gene
IDs

MGI:1916737
NCBI Gene: 69487
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr2:140012569-140045609 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 69.20 cM, cytoband G3
Mapping Data

2 experiments

SNPs within 2kb

1105 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916737	protein coding gene	Chr2:140012504-140047172 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026569	protein coding gene	Chr2:144098471-144132243 (+)
A/J	MGP_AJ_G0026533	protein coding gene	Chr2:138272404-138305271 (+)
AKR/J	MGP_AKRJ_G0026507	protein coding gene	Chr2:142225417-142258280 (+)
BALB/cJ	MGP_BALBcJ_G0026545	protein coding gene	Chr2:138669224-138702284 (+)
C3H/HeJ	MGP_C3HHeJ_G0026288	protein coding gene	Chr2:142742198-142775929 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026990	protein coding gene	Chr2:148421996-148457492 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024366	protein coding gene	Chr2:132586253-132618686 (+)
CAST/EiJ	MGP_CASTEiJ_G0025749	protein coding gene	Chr2:143046197-143079899 (+)
CBA/J	MGP_CBAJ_G0026268	protein coding gene	Chr2:153865835-153903279 (+)
DBA/2J	MGP_DBA2J_G0026402	protein coding gene	Chr2:137596966-137629853 (+)
FVB/NJ	MGP_FVBNJ_G0026366	protein coding gene	Chr2:136163758-136196509 (+)
LP/J	MGP_LPJ_G0026506	protein coding gene	Chr2:144247901-144280428 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026386	protein coding gene	Chr2:157885806-157921438 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027045	protein coding gene	Chr2:142195917-142230951 (+)
PWK/PhJ	MGP_PWKPhJ_G0025485	protein coding gene	Chr2:137180711-137214856 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025286	protein coding gene	Chr2:141282136-141321865 (+)
WSB/EiJ	MGP_WSBEiJ_G0025822	protein coding gene	Chr2:143179543-143215038 (+)

Human Ortholog

NDUFAF5, NADH:ubiquinone oxidoreductase complex assembly factor 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NDUFAF5, NADH:ubiquinone oxidoreductase complex assembly factor 5
Synonyms

bA526K24.2, C20orf7, dJ842G6.1, MC1DN16
Links

HGNC:15899

NCBI Gene ID: 79133

neXtProt AC: NX_Q5TEU4

UniProt: Q5TEU4
Chr Location

20p12.1; chr20:13785007-13821580 (+) GRCh38

MGI Vertebrate Homology

Ndufaf5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NDUFAF5
Gene Tree

Ndufaf5

Diseases

1 with human NDUFAF5 associations

				Human Disease	Mouse Models
				nuclear type mitochondrial complex I deficiency 16 IDs nuclear type mitochondrial complex I deficiency 16 DOID:0112096 OMIM:618238

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
12 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

13
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

7
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Ndufaf5
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

22 strains or lines available

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All GO Annotations

13
GO References

7

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

706
cDNA Data

25

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ndufaf5

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All Sequences

45
RefSeq

13
UniProt

1
CCDS

CCDS16804.2

Ensembl

ENSMUSG00000027384 (Evidence)
NCBI Gene

69487

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027384	Ensembl Gene Model \| MGI Sequence Detail	33041	C57BL/6J	± kb
transcript	ENSMUST00000044825	Ensembl \| MGI Sequence Detail	1166	Not Applicable
polypeptide	ENSMUSP00000035325	Ensembl \| MGI Sequence Detail	343	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000032801 arginine-hydroxylase NDUFAF5, mitochondrial

(term hierarchy)
EC

1.-.-.-, 2.1.1.-
InterPro Domains

IPR050602 Malonyl-ACP O-Methyltransferase

IPR013216 Methyltransferase type 11

IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily

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All nucleic 25

cDNA 25

Microarray probesets 3

Summaries

All 38

Gene Ontology 7

Phenotypes 12
Earliest

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

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Ndufaf5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20479	Chr2:140012561-140012621 (+)	22 bp
Tssr20480	Chr2:140012936-140012963 (+)	381 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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