Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29078
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase complex assembly factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFAF4
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MC1DN15
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q16.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031750	hsa-miR-16-5p	Proteomics	18668040
MIRT1178906	hsa-miR-1255a	CLIP-seq
MIRT1178907	hsa-miR-1255b	CLIP-seq
MIRT1178908	hsa-miR-134	CLIP-seq
MIRT1178909	hsa-miR-214	CLIP-seq
MIRT1178910	hsa-miR-3074-3p	CLIP-seq
MIRT1178911	hsa-miR-3118	CLIP-seq
MIRT1178912	hsa-miR-3120-3p	CLIP-seq
MIRT1178913	hsa-miR-3150b-3p	CLIP-seq
MIRT1178914	hsa-miR-3164	CLIP-seq
MIRT1178915	hsa-miR-3180-5p	CLIP-seq
MIRT1178916	hsa-miR-330-3p	CLIP-seq
MIRT1178917	hsa-miR-3619-5p	CLIP-seq
MIRT1178918	hsa-miR-3692	CLIP-seq
MIRT1178919	hsa-miR-3923	CLIP-seq
MIRT1178920	hsa-miR-4436b-5p	CLIP-seq
MIRT1178921	hsa-miR-4459	CLIP-seq
MIRT1178922	hsa-miR-4496	CLIP-seq
MIRT1178923	hsa-miR-4540	CLIP-seq
MIRT1178924	hsa-miR-4643	CLIP-seq
MIRT1178925	hsa-miR-4652-3p	CLIP-seq
MIRT1178926	hsa-miR-466	CLIP-seq
MIRT1178927	hsa-miR-4685-5p	CLIP-seq
MIRT1178928	hsa-miR-4689	CLIP-seq
MIRT1178929	hsa-miR-4722-5p	CLIP-seq
MIRT1178930	hsa-miR-4779	CLIP-seq
MIRT1178931	hsa-miR-4784	CLIP-seq
MIRT1178932	hsa-miR-4789-3p	CLIP-seq
MIRT1178933	hsa-miR-512-5p	CLIP-seq
MIRT1178934	hsa-miR-591	CLIP-seq
MIRT1178935	hsa-miR-758	CLIP-seq
MIRT1178936	hsa-miR-761	CLIP-seq
MIRT1178906	hsa-miR-1255a	CLIP-seq
MIRT1178907	hsa-miR-1255b	CLIP-seq
MIRT1178909	hsa-miR-214	CLIP-seq
MIRT2280879	hsa-miR-224	CLIP-seq
MIRT2280880	hsa-miR-2861	CLIP-seq
MIRT1178912	hsa-miR-3120-3p	CLIP-seq
MIRT1178913	hsa-miR-3150b-3p	CLIP-seq
MIRT1178917	hsa-miR-3619-5p	CLIP-seq
MIRT1178921	hsa-miR-4459	CLIP-seq
MIRT1178924	hsa-miR-4643	CLIP-seq
MIRT1178926	hsa-miR-466	CLIP-seq
MIRT1178928	hsa-miR-4689	CLIP-seq
MIRT1178929	hsa-miR-4722-5p	CLIP-seq
MIRT1178930	hsa-miR-4779	CLIP-seq
MIRT1178931	hsa-miR-4784	CLIP-seq
MIRT1178932	hsa-miR-4789-3p	CLIP-seq
MIRT1178936	hsa-miR-761	CLIP-seq
MIRT2579318	hsa-miR-4325	CLIP-seq
MIRT2579319	hsa-miR-4633-5p	CLIP-seq
MIRT2579320	hsa-miR-532-5p	CLIP-seq
MIRT2579318	hsa-miR-4325	CLIP-seq
MIRT2579319	hsa-miR-4633-5p	CLIP-seq
MIRT2579320	hsa-miR-532-5p	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19463981, 19688755, 24344204, 25416956, 25910212, 27499296, 32296183, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	18179882
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0031966	Component	Mitochondrial membrane	IDA	19463981
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA	21873635
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	18179882
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	TAS

MIM	HGNC	e!Ensembl
611776	21034	ENSG00000123545

Protein

UniProt ID

Q9P032

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (Hormone-regulated proliferation-associated protein of 20 kDa)

Protein function

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06784	UPF0240	1 → 171	Uncharacterised protein family (UPF0240)	Family

Sequence

MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEK
LLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEAL
TLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK

Sequence length

175

Interactions

View interactions

	KEGG		Reactome
	Thermogenesis		Complex I biogenesis

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863 View all (210 more)	27604308, 22644603, 18179882, 28853723
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Ptosis	Blepharoptosis, Ptosis		ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex 1 deficiency, nuclear type 15, mitochondrial complex I deficiency		GenCC
Leigh Syndrome	Leigh syndrome		GenCC
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	18179882
Cardiomyopathies	Associate	18179882
Leigh Disease	Associate	28853723
Mitochondrial complex I deficiency	Associate	18179882, 19463981, 23670274, 28853723
Mitochondrial Diseases	Associate	19463981

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)