Human Gene NDUFAF4 (ENST00000316149.8) from GENCODE V44
Description: Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA. (from RefSeq NM_014165) RefSeq Summary (NM_014165): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000316149.8 Gencode Gene: ENSG00000123545.6 Transcript (Including UTRs) Position: hg38 chr6:96,889,315-96,897,891 Size: 8,577 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr6:96,891,104-96,897,801 Size: 6,698 Coding Exon Count: 3
ID:NDUF4_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; AltName: Full=Hormone-regulated proliferation-associated protein of 20 kDa; 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. SUBUNIT: Binds calmodulin. Interacts with NDUFAF3. SUBCELLULAR LOCATION: Mitochondrion. 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. PTM: Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity). DISEASE: 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. MISCELLANEOUS: Elevated levels in highly invasive breast cancer cells and mammary tumors. Knockdown of endogenous C6orf66 in MDA- MB-231 cells inhibits MMP-9 secretion. SIMILARITY: Belongs to the NDUFAF4 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF06784 - Uncharacterised protein family (UPF0240)
ModBase Predicted Comparative 3D Structure on Q9P032
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q9P032 (Reactome details) participates in the following event(s):
R-HSA-6799203 IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I R-HSA-6799178 Intermediate 1 binds HP subcomplex to form Intermediate 2 R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex R-HSA-6799198 Complex I biogenesis R-HSA-611105 Respiratory electron transport R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-1430728 Metabolism
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