NDUFAF4
Sign in to saveAlso known as C6orf66, HRPAP20, My013, bA22L21.1, HSPC125, NADH:ubiquinone oxidoreductase complex assembly factor 4, MC1DN15
NADH:ubiquinone oxidoreductase complex assembly factor 4, (NDUFAF4) also known as Hormone-regulated proliferation-associated protein of 20 kDa, (HRPAP20) or C6orf66 is a protein that in humans is encoded by the NDUFAF4 gene. NDUFAF4 is a mitochondrial assembly protein involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in this gene have been associated with complex I deficiency and infantile mitochondrial encephalomyopathy. El
Gene data
NDUFAF4- Name
- NADH:ubiquinone oxidoreductase complex assembly factor 4
- Type
- protein-coding
- Position
- 96,889,311–96,897,897 (−)
- Aliases
- C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1
- Ensembl
- ENSG00000123545
- RefSeq RNA
- NM_014165.4
- RefSeq protein
- NP_054884.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NADH:ubiquinone oxidoreductase complex assembly factor 4
- Symbol
- NDUFAF4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:96,889,311-96,897,897
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~4 min read
Encyclopedic overview
6 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
NADH:ubiquinone oxidoreductase complex assembly factor 4, (NDUFAF4) also known as Hormone-regulated proliferation-associated protein of 20 kDa, (HRPAP20) or C6orf66 is a protein that in humans is encoded by the NDUFAF4 gene. NDUFAF4 is a mitochondrial assembly protein involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in this gene have been associated with complex I deficiency and infantile mitochondrial encephalomyopathy. Elevations in HRPAP20 have also been implicated in breast cancer.
== Structure == NDUFAF4 is located on the q arm of chromosome 6 in position 16.1 and has 3 exons. The NDUFAF4 gene produces a 23.7 kDa protein composed of 203 amino acids. HRPAP20 is a phosphoprotein, containing a phosphate group attachment and, potentially, multiple kinase recognition sequences. Additionally, it has a CaM-binding sequence that allows it to interact with calmodulin (CaM), which itself is involved in numerous cellular processes.
Excerpted from Wikipedia’s “NDUFAF4” article, available under the CC BY-SA 4.0 licence.