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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NDUFAF4 Gene

protein-coding GIFtS: 50
GCID: GC06M097337

NADH dehydrogenase (ubiquinone) complex I, assembly factor...

(Previous names: chromosome 6 open reading frame 66, NADH dehydrogenase...)
(Previous symbol: C6orf66)

Explore 11 diseases affiliated with
NDUFAF4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 4¹ ²		Hormone-Regulated Proliferation-Associated Protein Of 20 KDa² ³
C6orf66¹ ² ³ ⁵		HSPC125¹
HRPAP20¹ ² ³ ⁵		Chromosome 6 Open Reading Frame 66¹
My013¹ ²		Hormone-Regulated Proliferation-Associated Protein, 20 KDa²
BA22L21.1¹		NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 4²
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 4¹ ²

External Ids:	HGNC: 21034¹	Entrez Gene: 29078²	Ensembl: ENSG00000123545⁷	OMIM: 611776⁵	UniProtKB: Q9P032³

Export aliases for NDUFAF4 gene to outside databases

Previous GC identifers: GC06M097446 GC06M094771

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NDUFAF4:

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in

the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner

mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of

mitochondrial complex I deficiency. (provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032

Function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved

in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NDUFAF4 gene promoter:
Bach1 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) AREB6 POU2F1 POU2F1b POU2F1a POU2F1c
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for NDUFAF4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAF4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q16.1 Ensembl cytogenetic band: 6q16.1 HGNC cytogenetic band: 6q16.3

NDUFAF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAF4 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M097337: view genomic region (about GC identifiers)

Start:	97,337,187 bp from pter	End:	97,345,767 bp from pter
Size:	8,581 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032 (See protein sequence)

Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Size: 175 amino acids; 20266 Da

Subunit: Binds calmodulin. Interacts with NDUFAF3

Subcellular location: Mitochondrion

Secondary accessions: B2R4J5

Explore the universe of human proteins at neXtProt for NDUFAF4: NX_Q9P032

Post-translational modifications:

Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9P032

NDUFAF4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_054884.1

ENSEMBL proteins:

ENSP00000358272

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0031966	mitochondrial membrane	IDA	19463981

NDUFAF4 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NDUFAF4 for domains About GeneDecksing

1 InterPro domain/family:

IPR009622 UPF0240

Graphical View of Domain Structure for InterPro Entry Q9P032

ProtoNet protein and cluster: Q9P032

1 Blocks protein family: IPB009622 Protein of unknown function UPF0240

UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032

Similarity: Belongs to the NDUFAF4 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NDUF4_HUMAN, Q9P032

Function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved

in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion

Induction: Expression is low in quiescent cells and is induced in exponentially proliferating cultures. Expression is

also induced when prolactin is added to stationary cells. Induced by dietary differentiating agents such as butyrate

and retinoic acid

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	19463981
GO:0005516	calmodulin binding	IEA	--

NDUFAF4 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NDUFAF4

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for NDUFAF4 (Q9P032³ ENSP00000358272⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NDUFAF3	Q9BU61³, ENSP00000323076⁴	I2D: score=1 STRING: ENSP00000323076
SQSTM1	Q13501³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	18179882

NDUFAF4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for NDUFAF4

1 HMDB Compound for NDUFAF4 About this table

Compound	Synonyms	CAS #	PubMed Ids
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--

Search CenterWatch for drugs/clinical trials and news about NDUFAF4 / NDUF4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for NDUFAF4 gene:

NM_014165.3

Unigene Cluster for NDUFAF4:

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4

Hs.512144 [show with all ESTs]

Unigene Representative Sequence: NM_014165

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000316149(uc003pov.3 uc003pow.3) ENST00000478382 ENST00000489477

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Additional cDNA sequence:

AF060508.1 AF161474.1 AK026245.1 AK311850.1 BC018802.1 BC039464.1

6 DOTS entries:

DT.86840984 DT.95272254 DT.97818658 DT.100780837 DT.121346749 DT.95281487

24/147 AceView cDNA sequences (see all 147):

BX096390 AA846350 AI864185 CB140302 AI187014 CK903618 AI042346 BF112035

AI084350 CB159598 BM689589 BI963019 AI660691 AI075248 AA977140 AA150276

BM984700 BF681643 AA759112 BU954466 CD521222 BQ189499 CN479130 BI549646

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF4 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5a	·	5b	·	5c	·	5d
SP1:					-		-		-
SP2:					-		-		-				-
SP3:							-		-				-
SP4:									-				-
SP5:													-

ECgene alternative splicing isoforms for NDUFAF4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NDUFAF4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAAGAGCCG

About this image

NDUFAF4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Body Subcutaneous White Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NDUFAF4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFAF4

SOURCE GeneReport for Unigene cluster: Hs.512144

SABiosciences Custom PCR Arrays for NDUFAF4

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NDUFAF4 gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ndufaf4^{1 , 5}	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more^{1, 5}	79.58(n)¹ 72.83(a)¹		4 (10.52 cM)⁵ 68493¹ NM_026742.4¹ NP_081018.1¹ 24898083⁵
chicken (Gallus gallus)	Aves	NDUFAF4¹	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more	61.57(n) 51.18(a)		421802 XM_003641013.1 XP_003641061.1
lizard (Anolis carolinensis)	Reptilia	NDUFAF4⁶	--	50(a)	1 ↔ 1	1(173582127-173585828)
African clawed frog (Xenopus laevis)	Amphibia	Xl.33349²	Xenopus laevis transcribed sequence with weak similarity more	76.87(n)		BI477869.1
zebrafish (Danio rerio)	Actinopterygii	ndufaf4¹	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more	55.1(n) 47.06(a)		794169 XM_003200655.1 XP_003200703.1
fruit fly (Drosophila melanogaster)	Insecta	CG11722¹	CG11722	46.06(n) 36.36(a)		41227 NM_141713.3 NP_649970.1

ENSEMBL Gene Tree for NDUFAF4 (if available)
TreeFam Gene Tree for NDUFAF4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NDUFAF4 gene

NDUFAF4 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for NDUFAF4
PGOHUM00000247112 PGOHUM00000244344 PGOHUM00000237588 PGOHUM00000233471

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs63751061^1,2	C	pathogenic	113028091(-)	`GTTTCC/TAAAAG`	2	P L	mis¹		0	--	--	--	--
rs62415281^1,2		--	94770907(+)	`CAGGCG/ATCTCC`	1	--	ds500¹		3		NA EA	242
rs62415282^1,2		--	94771288(+)	`AGATGG/ACATGG`	1	--	ds500¹		3		NA WA	240
rs73758053^1,2	C,F	--	94771901(+)	`TGCTGC/TTTTTT`	1	--	ut3¹		3		WA CSA	122
rs79104264^1,2	F	--	94771946(+)	`AAAACT/CAAATT`	1	--	ut3¹		1		WA	118
rs17057099^1,2	C,F,H	--	94771986(+)	`ATCTTC/TGGTCA`	1	--	ut3¹ ese³		13		NA NS EA WA	1512
rs76370016^1,2	F	--	94772138(+)	`TCTCCA/CAGAAG`	1	--	ut3¹		1		WA	118
rs74905648^1,2	F	--	94772147(+)	`AGATAT/CAGTCT`	1	--	ut3¹		1		WA	118
rs11759571^1,2	C,F,H	--	94772561(+)	`AACATT/GTTGTA`	1	--	ut3¹ ese³		10		NS EA NA	1434
rs56240093^1,2	C	--	94772718(+)	`TTATTT/CGGGAA`	1	--	ut3¹		2		WA	120

HapMap Linkage Disequilibrium report for NDUFAF4 (97337187 - 97345767 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NDUFAF4: --
Human Gene Mutation Database (HGMD): NDUFAF4

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NDUFAF4 for disorders           About GeneDecksing

OMIM gene information: 611776
OMIM disorders: 252010
UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032

Defects in NDUFAF4 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the

mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to

adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific

encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some

forms of Parkinson disease

11 diseases for NDUFAF4: About MalaCards

mitochondrial complex i deficiency leber hereditary optic neuropathy mitochondrial encephalomyopathy encephalomyopathy

leukodystrophy neuropathy parkinson's disease breast carcinoma

breast cancer thyroiditis carcinoma

1 disease from the University of Copenhagen DISEASES database for NDUFAF4:

Mitochondrial encephalomyopathy

Human Genome Epidemiology (HuGE) Navigator: NDUFAF4 (1 document)

Export disorders for NDUFAF4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NDUFAF4 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with NDUFAF4)

Utopia: connect your pdf to the dynamic
world of online information

C6ORF66 is an assembly factor of mitochondrial complex I. (PubMed id 18179882)^{1, 2, 3} Saada A.... Elpeleg O. (2008)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2, 3} Zhang Q.-H.... Chen Z. (2000)
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PubMed id 19463981)^{1, 2} Saada A....Nijtmans L.G. (2009)
HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion. (PubMed id 17001319)^{1, 2} Karp C.M.... Buckley A.R. (2007)
Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells. (PubMed id 14871833)^{1, 2} Karp C.M.... Buckley A.R. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen. (PubMed id 17909269)^{1, 9} Tozlu-Kara S....Bieche I. (2007)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 29078	HGNC: 21034	AceView: C6orf66	Ensembl:ENSG00000123545	euGenes: HUgn29078
ECgene: NDUFAF4	H-InvDB: NDUFAF4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NDUFAF4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NDUFAF4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NDUFAF4 gene:
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