ERG28 | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||
Aliases | ERG28 , NET51, C14orf1, chromosome 14 open reading frame 1, ergosterol biosynthesis 28 homolog | ||||||||||||||||||||||||
External IDs | OMIM: 604576 MGI: 1915571 HomoloGene: 38284 GeneCards: ERG28 | ||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl |
| ||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 14: 75.65 – 75.66 Mb | n/a | |||||||||||||||||||||||
PubMed search | [2] | [3] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
|
Ergosterol biosynthetic protein 28 is a protein that in humans is encoded by the ERG28 gene. [4] [5] [6] [7]
Ras-related protein Rab-5B is a protein that in humans is encoded by the RAB5B gene.
HIG1 domain family member 1A (HIGD1A), also known as hypoglycemia/hypoxia inducible mitochondrial protein1-a (HIMP1-a) and hypoxia induced gene 1 (HIG1), is a protein that in humans is encoded by the HIGD1A gene on chromosome 3. This protein promotes mitochondrial homeostasis and survival of cells under stress and is involved in inflammatory and hypoxia-related diseases, including atherosclerosis, ischemic heart disease, and Alzheimer’s disease, as well as cancer.
Polyadenylate-binding protein-interacting protein 2 is a protein that in humans is encoded by the PAIP2 gene.
Myotubularin-related protein 6 is a protein that in humans is encoded by the MTMR6 gene.
Glutathione S-transferase kappa 1 (GSTK1) is an enzyme that in humans is encoded by the GSTK1 gene which is located on chromosome seven. It belongs to the superfamily of enzymes known as glutathione S-transferase (GST), which are mainly known for cellular detoxification. The GSTK1 gene consists of eight exons and seven introns and although it is a member of the GST family, its structure has been found to be similar to bacterial HCCA (2-hydroxychromene-2-carboxylate) isomerases and bacterial disulphide-bond-forming DsbA oxidoreductase. This similarity has later allowed the enzyme GSTK1 to be renamed to DsbA-L. Research has also suggested that several variations of the GSTK1 gene can be responsible for metabolic diseases and certain types of cancer.
Single-stranded DNA-binding protein 2 is a protein that in humans is encoded by the SSBP2 gene.
Protein YIPF3 is a protein that in humans is encoded by the YIPF3 gene. Along with YIPF4, it is concentrated in the cis-Golgi region. There the two form a complex and may be involved in the maintenance of the Golgi structure.
Protein cornichon homolog 4 is a protein that in humans is encoded by the CNIH4 gene.
TIMMDC1 is a protein that in humans is encoded by the TIMMDC1 gene. It is a chaperone protein involved in constructing the membrane arm of mitochondrial Complex I. A frameshift mutation in an intron of this gene has been shown to cause failure to thrive, retardation of psychomotor development, infantile-onset hypotonia, and severe neurologic dysfunction. High expression of this gene has been associated with migration of lung cancer cells while depletion of the protein has been shown to affect regulation of apoptosis, the cell cycle, and cell migration.
Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.
Uncharacterized protein C6orf89 is a protein that in humans is encoded by the C6orf89 gene.
Protein transport protein Sec61 subunit gamma is a protein that in humans is encoded by the SEC61G gene.
BRCA1-A complex subunit MERIT40 is a protein that in humans is encoded by the BABAM1 gene.
Synaptotagmin-13 is a protein that in humans is encoded by the SYT13 gene.
Spartan (SPRTN) is a protein that in humans is encoded by the SPRTN gene. It is involved in DNA repair. Ruijs-Aalfs syndrome is an autosomal recessive genetic disorder. Characteristics of this disorder are features of premature aging, chromosome instability and development of hepatocellular carcinoma. Ruijs-Aalfs syndrome arises as a result of mutations in the SPRTN gene that encodes a metalloproteinase employed in the repair of protein-linked DNA breaks.
RNA-binding protein MEX3B is a protein that in humans is encoded by the MEX3B gene.
Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene. It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.
Zinc finger protein 34 is a protein that in humans is encoded by the ZNF34 gene.
Zinc finger protein 571 is a protein that in humans is encoded by the ZNF571 gene.
Leiomodin-3 is a protein that in humans is encoded by the LMOD3 gene. Leiomodin-3 is especially present at the pointed end of muscle thin filaments.