Family Search for PF06784 (UPF0240)
PF06784 hits 4 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
NDUF4_DROME / Q9VH39 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; dNDUFAF4; NADH:ubiquinone oxidoreductase complex assembly factor 4 from Drosophila melanogaster (Fruit fly) (see paper)
CG11722 uncharacterized protein from Drosophila melanogaster
Aligns to 1:178 / 203 (87.7%), covers 100.0% of PF06784, 220.9 bits
- function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:34386730). Together with NdufAF3, involved in biogenesis of complex 1 modules N, Q and P- peripheral, but not the P-distal module (PubMed:34386730). Required for recruitment of the complex I assembly factor Timmdc1 to complex 1 assembly intermediates (PubMed:34386730).
subunit: Together with NdufAF3 associates with mitochondrial complex I assembly intermediates during its biogenesis.
disruption phenotype: RNAi-mediated knockdown in thoracic muscles is lethal. - Dissecting the concordant and disparate roles of NDUFAF3 and NDUFAF4 in mitochondrial complex I biogenesis
Murari, iScience 2021 - “...the Ensembl genome browser revealed that Drosophila orthologs of NDUFAF3 and NDUFAF4 are CG5569 and CG11722, respectively. For simplicity, we refer to CG5569 and CG11722 as dNDUFAF3 and dNDUFAF4, respectively, and prefix all Drosophila orthologs of CI subunits and CIAFs with d (asin dNDUFAF3 for NDUFAF3,...”
- “...anti-dNDUFAF1 (CG7598) This paper N/A Rabbit polyclonal anti-dNDUFAF3 (CG5569) This paper N/A Rabbit polyclonal anti-dNDUFAF4 (CG11722) This paper N/A Rabbit polyclonal anti-dTIMMDC1 (CG9852) This paper N/A Rabbit polyclonal anti-dECSIT (CG10610) This paper N/A Rabbit polyclonal anti-dNDUFS5 (CG11752) Murari etal., 2020 N/A Rabbit polyclonal anti-dNDUFV1 (CG9350) Murari...”
A4FUH5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 from Bos taurus
Aligns to 1:167 / 175 (95.4%), covers 99.4% of PF06784, 219.0 bits
NDUF4_HUMAN / Q9P032 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; Hormone-regulated proliferation-associated protein of 20 kDa from Homo sapiens (Human) (see 6 papers)
NP_054884 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 from Homo sapiens
Aligns to 1:168 / 175 (96.0%), covers 99.4% of PF06784, 208.6 bits
- 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 tumor cell invasion.
subunit: Binds calmodulin. Interacts with NDUFAF3.
subunit: (Microbial infection) Interacts with the vesicular stomatitis virus matrix protein/M; the interaction inhibits viral propagation. - Integrated lipid metabolomics and proteomics analysis reveal the pathogenesis of polycystic ovary syndrome.
Qian, Journal of translational medicine 2024 - “...66,812 104,678 1.57 0.65 0.000 0.005 Q9H936 SLC25A22 79,751 897,701 589,248 1.52 0.61 0.000 0.005 Q9P032 NDUFAF4 29,078 1,149,556 702,973 1.64 0.71 0.000 0.005 P33947 KDELR2 11,014 296,115 183,010 1.62 0.69 0.000 0.005 Q9Y250 LZTS1 11,178 263,805 149,676 1.76 0.82 0.000 0.005 Q14134 TRIM29 23,650 284,192...”
- AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis.
Vessby, Clinical and translational gastroenterology 2022 - “...No LSM7 Q9UK45 0.954 0.531 to 1.377 0.0006 0.188 0.918 to 0.542 0.6169 No NDUFAF4 Q9P032 0.708 0.393 to 1.022 0.0006 0.259 0.071 to 0.588 0.1326 No AGPAT1 Q99943 0.332 0.482 to 0.182 0.0007 0.214 0.367 to 0.061 0.0094 Yes AGPAT1, 1-acetylglycerol-3-phosphate O-acyltransferase 1; CD47, leukocyte...”
- Comparison of a human neuronal model proteome upon Japanese encephalitis or West Nile Virus infection and potential role of mosquito saliva in neuropathogenesis.
Besson, PloS one 2020 - “...org., Glycoprotein 2.95 (6.07E-03) O75063 9917 FAM20B Glycosaminoglycan xylosylkinase Glycoprotein, Nucleotide-binding, Transmembrane protein 2.70 (3.24E-02) Q9P032 29078 NDUFAF4 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 2.37 (2.00E-02) Q13641 7162 TPBG Trophoblast glycoprotein Glycoprotein, Leucine-rich repeat, Transmembrane protein 2.36 (4.55E-02) Q86UV5-2 84196 USP48 Ubiquitin carboxyl-terminal...”
- Combining patient proteomics and in vitro cardiomyocyte phenotype testing to identify potential mediators of heart failure with preserved ejection fraction
Raphael, Journal of translational medicine 2016 - “...HNRCL O60812 Heterogeneous nuclear ribonucleoprotein C-like 1 BIRC3 Q13489 Baculoviral IAP repeat-containing protein 3 NDUF4 Q9P032 NADH dehydrogenase 1 alpha subcomplex assembly factor 4 MIRO2 Q8IXI1 Mitochondrial Rho GTPase 2 Present in HFpEF symptomatic and HFpEF asymptomatic groups but not control group MBD5 Q9P267 Methyl-CpG-binding domain...”
- Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin, Frontiers in molecular biosciences 2016 - A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding.
Long, Molecular carcinogenesis 2024 (PubMed)- GeneRIF: A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding.
- Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
Ugarteburu, Mitochondrion 2020 (PubMed)- GeneRIF: Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
- NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Baertling, European journal of human genetics : EJHG 2017 - GeneRIF: A homozygous missense NDUFAF4 variant was identified in a complex I-deficient patient with Leigh syndrome.
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson, PloS one 2010 - GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
- Lack of complex I is associated with oncocytic thyroid tumours.
Zimmermann, British journal of cancer 2009 - GeneRIF: Specific lack of complex I was detected in thyroid cancers expressing less than 5% of the amount in surrounding non-cancerous tissue.
- Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada, American journal of human genetics 2009 - GeneRIF: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
- C6ORF66 is an assembly factor of mitochondrial complex I.
Saada, American journal of human genetics 2008 - GeneRIF: Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.
- HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion.
Karp, Oncogene 2007 (PubMed)- GeneRIF: observations suggest that HRPAP20 may be an important regulator of breast tumor cell invasion by a CaM-mediated mechanism that leads to increased MMP-9 secretion
- More
NDUF4_RAT / Q9NQR8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; Hormone-regulated proliferation-associated protein of 20 kDa homolog; Protein HRPAP20 from Rattus norvegicus (Rat) (see paper)
Aligns to 1:167 / 174 (96.0%), covers 99.4% of PF06784, 205.5 bits
- function: May be involved in cell proliferation and survival of hormone-dependent tumor cells. Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (By similarity).
subunit: Binds calmodulin. Interacts with NDUFAF3. - Comparative Proteomics Analysis of Growth-Primed Adult Dorsal Root Ganglia Reveals Key Molecular Mediators for Peripheral Nerve Regeneration
Bautista, eNeuro 2023 - “...Aifm1 NADH oxidoreductase, regulator of apoptosis 62 NADH dehydrogenase [ubiquinone] 1 subcomplex assembly factor 4 Q9NQR8 Ndufaf4 Positive regulation of cell proliferation 63 ProSAAS Q9QXU9 Pcsk1n Neuropeptide signaling pathway, control neuroendocrine secretory pathway 64 Peroxisomal biogenesis factor 19 Q9QYU1 Pex19 Chaperone In vivo and in vitro...”
- Proteomics analysis of the hypothalamus in spontaneously hypertensive rats treated with twirling reinforcing manipulation, twirling reducing manipulation or electroacupuncture
Liang, Experimental and therapeutic medicine 2021 - “...analyses were subjected to validation by PRM ( Fig. 3 ). D3ZHC4, MORC17, PMGT2, Q6IUR5, Q9NQR8 and Q5M819 in the hypothalami of the M group were significantly downregulated compared with the WKY group. EA manipulation rescued the expression of D3ZHC4, MORC17, PMGT2, Q6IUR5 and Q9NQR8 to...”
Or search for genetic data about PF06784 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory