|
|
||
|
|
|
|
|
UniProt functional annotation for Q6NUK1 | ||
|
|
|
|
|
|
||
| UniProt code: Q6NUK1. |
|
||
| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
|
||
|
||
| Function: | |
Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix. {ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:22015608, ECO:0000269|PubMed:29100093}. |
|
||
| Biophysicochemical properties: | |
Kinetic parameters: KM=0.97 mM for AMP {ECO:0000269|PubMed:15123600}; KM=0.3 mM for ADP {ECO:0000269|PubMed:15123600}; KM=0.33 mM for ATP {ECO:0000269|PubMed:15123600}; KM=0.2 mM for ATP-Mg {ECO:0000269|PubMed:15123600}; KM=1.64 mM for Pi {ECO:0000269|PubMed:15123600}; Vmax=337 umol/min/g enzyme with AMP as substrate {ECO:0000269|PubMed:15123600}; Vmax=345 umol/min/g enzyme with ADP as substrate {ECO:0000269|PubMed:15123600}; Vmax=320 umol/min/g enzyme with ATP as substrate {ECO:0000269|PubMed:15123600}; Vmax=365 umol/min/g enzyme with ATP-Mg as substrate {ECO:0000269|PubMed:15123600}; Vmax=380 umol/min/g enzyme with Pi as substrate {ECO:0000269|PubMed:15123600}; |
| Subcellular location: | |
Mitochondrion inner membrane {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:22015608}; Multi-pass membrane protein {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:22015608}. |
| Tissue specificity: | |
Present in various cell lines (at protein level). Expressed in all tissues tested. Highly expressed in testis, expressed at intermediate level in small intestine and pancreas, and weakly expressed in kidney, spleen, liver, skeletal muscle and heart. {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600}. |
| Domain: | |
The N-terminal domain can bind calcium and regulates the ATP carrier activity of the transmembrane domain. The apo form of the N- terminal domain is intrinsically disordered and binds to the transmembrane domain, leading to inhibition of the ATP carrier activity. Calcium binding leads to a major conformation change and abolishes the interaction with the transmembrane domain and the inhibition of the ATP carrier activity (PubMed:24332718). {ECO:0000269|PubMed:24332718}. |
| Disease: | |
Fontaine progeroid syndrome (FPS) [MIM:612289]: An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients. {ECO:0000269|PubMed:29100093}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=AAF28888.1; Type=Frameshift; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.