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Gene: NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) Chlorocebus sabaeus

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Symbol:

NDUFAF5

Name:

NADH:ubiquinone oxidoreductase complex assembly factor 5

RGD ID:

18643402

Description:

ENCODES a protein that exhibits methyltransferase activity (inferred); S-adenosylmethionine-dependent methyltransferase activity (inferred); INVOLVED IN methylation (inferred); mitochondrial respiratory chain complex I assembly (inferred); ASSOCIATED WITH genetic disease (ortholog); Leber plus disease (ortholog); Leigh disease (ortholog); FOUND IN matrix side of mitochondrial inner membrane (inferred); mitochondrion (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

arginine-hydroxylase NDUFAF5, mitochondrial; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	42,670,613 - 42,706,341 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	42,670,421 - 42,711,024 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	2,946,890 - 2,982,616 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (ISO)

Leber plus disease (ISO)

Leigh disease (ISO)

mitochondrial complex I deficiency (ISO)

nuclear type mitochondrial complex I deficiency 1 (ISO)

nuclear type mitochondrial complex I deficiency 16 (ISO)

Subacute Necrotizing Encephalopathy of Leigh, Infantile (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

methylation (IEA)

mitochondrial respiratory chain complex I assembly (IEA)

Cellular Component

matrix side of mitochondrial inner membrane (IEA)

mitochondrion (IEA)

Molecular Function

methyltransferase activity (IEA)

protein binding (ISO)

S-adenosylmethionine-dependent methyltransferase activity (IEA)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

NDUFAF5
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	42,670,613 - 42,706,341 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	42,670,421 - 42,711,024 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	2,946,890 - 2,982,616 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

NDUFAF5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	13,785,028 - 13,821,580 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	13,785,007 - 13,821,580 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	13,765,674 - 13,802,226 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	13,713,682 - 13,745,874 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	20	13,835,718 - 13,869,123 (+)	NCBI		Celera
Cytogenetic Map	20	p12.1	NCBI
HuRef	20	13,720,309 - 13,753,711 (+)	NCBI		HuRef
CHM1_1	20	13,765,617 - 13,799,023 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	13,828,747 - 13,865,323 (+)	NCBI		T2T-CHM13v2.0

Ndufaf5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	140,012,504 - 140,047,172 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	140,012,569 - 140,045,609 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	140,170,584 - 140,218,965 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	140,170,649 - 140,203,689 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	139,996,382 - 140,030,988 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	139,862,471 - 139,895,073 (+)	NCBI		MGSCv36	mm8
Celera	2	141,356,217 - 141,391,065 (+)	NCBI		Celera
Cytogenetic Map	2	F3	NCBI
cM Map	2	69.2	NCBI

Ndufaf5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	147,961,612 - 147,991,128 (+)	NCBI		GRCr8
mRatBN7.2	3	127,507,931 - 127,537,477 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	127,507,941 - 127,537,477 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	131,371,136 - 131,400,649 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	139,955,232 - 139,984,745 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	137,658,373 - 137,687,888 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	133,232,412 - 133,261,932 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	133,232,432 - 133,261,973 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	139,688,300 - 139,717,717 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	128,353,866 - 128,384,213 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	128,259,473 - 128,289,786 (+)	NCBI
Celera	3	126,154,809 - 126,184,287 (+)	NCBI		Celera
Cytogenetic Map	3	q41	NCBI

Ndufaf5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955415	23,221,084 - 23,262,073 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955415	23,221,084 - 23,263,548 (+)	NCBI	ChiLan1.0	ChiLan1.0

NDUFAF5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	21	14,679,233 - 14,715,055 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	14,675,994 - 14,724,032 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	13,751,315 - 13,788,024 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	13,735,768 - 13,769,147 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	13,735,798 - 13,768,671 (+)	Ensembl	panpan1.1		panPan2

NDUFAF5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	8,810,682 - 8,873,212 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	8,837,253 - 8,873,176 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	8,621,611 - 8,684,816 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	9,249,725 - 9,285,751 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	9,247,744 - 9,285,708 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	8,822,205 - 8,885,310 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	8,918,663 - 8,981,572 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	9,267,158 - 9,330,256 (-)	NCBI		UU_Cfam_GSD_1.0

Ndufaf5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	157,563,024 - 157,593,648 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936485	5,992,668 - 6,025,467 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936485	5,994,388 - 6,025,042 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NDUFAF5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	22,480,340 - 22,511,180 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	22,480,344 - 22,508,804 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	25,160,198 - 25,188,788 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Ndufaf5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624741	14,778,109 - 14,823,893 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	14,778,126 - 14,824,079 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NDUFAF5
842 total Variants

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
76	36	20	36	36	60	20

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_007960439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037984760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_005235674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_489553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JACDXN010000022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000009857 ⟹ ENSCSAP00000007964

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	2	42,670,421 - 42,711,024 (+)	Ensembl

RefSeq Acc Id:

XM_007960439 ⟹ XP_007958630

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	2	42,670,613 - 42,706,341 (+)	NCBI
Vero_WHO_p1.0	NW_023666054	2,946,896 - 2,982,616 (+)	NCBI

Sequence:

show sequence

TTGCACGATCCCTCTGTGATCTTCGGAGTAGGCACAAAAGCCGCTCTGGCGCATGCGCACGACA
AAAAGTGCCGGCAATTGGTGTAGCAGCTGGAGATGCTGCGGCCGGCAGGGCTCTGGCGCTTATG
TCGGCGACCTTGGGCGGCGAGGGTCTCAGCAGAGAACCCTGGCCGTAGGGAAGTCACCTCTGGT
GTCTCTCCCCGCGGGAGCACCTCGCTCAGAGCGCTAAATATCTTCGACCGGGATTTGAAAAGGA
AACAGAAGAACTGGGCGGCCCGGCAGCCGGAGCCTACGAAGTTTGACTACCTGAAGGAGGAGGT
TGGAAGTCGGATCGCAGATCGTGTATATGACATACCCAGAGCTTTCCCCCTTGCTTTGGATCTT
GGTTGTGGAAGAGGTTACATTGCACAATATTTGAATAAGGAAACTATTGGAAAGTTCTTCCAAG
TTGACCTTGCAGAAAATGCTTTGAAAAATTCCTTAGAAACAGAAATTCCTACTGTCAGCGTTTT
AGCTGATGAAGAATTCCTTCCCTTCAGAGAAAATACATTTGACCTGGTGGTTAGCAGTTTAAGT
TTGCACTGGGTGAATGACCTTCCTAGAGCACTTGAGCAGATTCATTATATTTTAAAACCAGATG
GAGTGTTTATCGGTGCAATGTTTGGAGGCGACACACTCTATGAACTTCGGTGTTCCTTACAGTT
AGCGGAAACAGAAAGGGAAGGAGGATTTTCTCCACACATTTCTCCTTTCACTGCTGTCAATGAC
CTGGGACATCTGCTTGGGAGAGCTGGCTTTAATACTCTGACTGTGGACACTGATGAAATTCAAG
TTAACTATCCTGGAATGTTTGAATTGATGGAAGATTTACAAGGTATGGGTGAGAGTAACTGTTC
TTGGAATAGAAAAGCCCTGCTGCATCGAGACACAATGCTGGCAGCTGCAGCCGTGTACAGAGAA
ATGTACAGAAATGAGGATGGTTCAGTACCTGCCACATATCAGATCTATTACATGATAGGATGGA
AATATCATGAGTCACAGGCAAGACCAGCTGAAAGAGGTTCTGCAACTGTGTCATTTGGAGAACT
AGGAAAAATAAACGACCTTATGCCACAGGGGAAAAAATCACAATAAATATTTATTCAATGTTAA

hide sequence

RefSeq Acc Id:

XM_037984753 ⟹ XP_037840681

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,946,890 - 2,974,312 (+)	NCBI

RefSeq Acc Id:

XM_037984754 ⟹ XP_037840682

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,946,892 - 2,968,293 (+)	NCBI

RefSeq Acc Id:

XM_037984755 ⟹ XP_037840683

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,947,012 - 2,982,616 (+)	NCBI

RefSeq Acc Id:

XM_037984756 ⟹ XP_037840684

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,946,995 - 2,982,616 (+)	NCBI

RefSeq Acc Id:

XM_037984757 ⟹ XP_037840685

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,947,025 - 2,982,616 (+)	NCBI

RefSeq Acc Id:

XM_037984758 ⟹ XP_037840686

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,947,038 - 2,982,616 (+)	NCBI

RefSeq Acc Id:

XM_037984759 ⟹ XP_037840687

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,949,253 - 2,982,616 (+)	NCBI

RefSeq Acc Id:

XM_037984760 ⟹ XP_037840688

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,949,253 - 2,982,616 (+)	NCBI

RefSeq Acc Id:

XR_005235674

Type:

NON-CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666054	2,946,895 - 2,982,615 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_007958630	(Get FASTA)	NCBI Sequence Viewer
	XP_037840681	(Get FASTA)	NCBI Sequence Viewer
	XP_037840682	(Get FASTA)	NCBI Sequence Viewer
	XP_037840683	(Get FASTA)	NCBI Sequence Viewer
	XP_037840684	(Get FASTA)	NCBI Sequence Viewer
	XP_037840685	(Get FASTA)	NCBI Sequence Viewer
	XP_037840686	(Get FASTA)	NCBI Sequence Viewer
	XP_037840687	(Get FASTA)	NCBI Sequence Viewer
	XP_037840688	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000007964.1

RefSeq Acc Id:	XP_007958630 ⟸ XM_007960439
- Peptide Label:	isoform X1
- UniProtKB:	A0A0D9RH75 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSCSAP00000007964 ⟸ ENSCSAT00000009857

RefSeq Acc Id:	XP_037840681 ⟸ XM_037984753
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_037840682 ⟸ XM_037984754
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_037840684 ⟸ XM_037984756
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_037840683 ⟸ XM_037984755
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_037840685 ⟸ XM_037984757
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_037840686 ⟸ XM_037984758
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_037840687 ⟸ XM_037984759
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_037840688 ⟸ XM_037984760
- Peptide Label:	isoform X5

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000011769	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000009857.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.150	UniProtKB/TrEMBL
InterPro	Malonyl-ACP_OMT	UniProtKB/TrEMBL
	Methyltransf_11	UniProtKB/TrEMBL
	SAM-dependent_MTases	UniProtKB/TrEMBL
KEGG Report	csab:103214452	UniProtKB/TrEMBL
NCBI Gene	NDUFAF5	ENTREZGENE
PANTHER	ARGININE-HYDROXYLASE NDUFAF5, MITOCHONDRIAL	UniProtKB/TrEMBL
	UNCHARACTERIZED	UniProtKB/TrEMBL
Pfam	Methyltransf_11	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53335	UniProtKB/TrEMBL
UniProt	A0A0D9RH75	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM