| 1342736 | SPG7 | SPG7 matrix AAA peptidase subunit, paraplegin | ENCODES an ncrna that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); ATP-dependent peptidase activity (inferred); INVOLVED IN anterograde axonal transport (ortholog); mitochondrial outer membrane permeabilization involved in programmed cell death (ortholog); mitochondrion organ ization (ortholog); ASSOCIATED WITH hereditary spastic paraplegia 7 (ortholog); FOUND IN m-AAA complex (ortholog); mitochondrion (ortholog); INTERACTS WITH (1->4)-beta-D-glucan (ortholog); 1,2-dimethylhydrazine (ortholog); 17alpha-ethynylestradiol (ortholog) | 16 | 89490970 | 89499282 | Human | 64 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, ncrna, MODEL [RefSeq] |
| 32716488 | SPG7 | SPG7 matrix AAA peptidase subunit, paraplegin | This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteoly sis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014] | 16 | 89508388 | 89557768 | Human | 424 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 16563108 | AC092123.1 | novel transcript, antisense to SPG7 | | | | | Human | | name | gene, lncrna |
| 1342911 | ATP13A2 | ATPase cation transporting 13A2 | This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] | 1 | 16985958 | 17011928 | Human | 439 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736980 | CAPN1 | calpain 1 | The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a c ommon small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] | 11 | 65181373 | 65212006 | Human | 381 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1313382 | CPT1C | carnitine palmitoyltransferase 1C | This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] | 19 | 49690662 | 49713731 | Human | 174 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1342814 | FARS2 | phenylalanyl-tRNA synthetase 2, mitochondrial | This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative spli cing results in multiple transcript variants. [provided by RefSeq, Jan 2016] | 6 | 5249934 | 5771583 | Human | 278 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1606941 | IBA57 | iron-sulfur cluster assembly factor IBA57 | The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 a nd with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015] | 1 | 228165804 | 228182257 | Human | 166 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 732303 | MAG | myelin associated glycoprotein | The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternative ly spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010] | 19 | 35292161 | 35313807 | Human | 220 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1313280 | MARS1 | methionyl-tRNA synthetase 1 | This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionin e to tRNA molecules. [provided by RefSeq, Jan 2011] | 12 | 57488068 | 57516652 | Human | 337 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1346917 | REEP2 | receptor accessory protein 2 | This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provide d by RefSeq, Nov 2012] | 5 | 138439057 | 138446965 | Human | 129 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 733510 | UCHL1 | ubiquitin C-terminal hydrolase L1 | The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene ma y be associated with Parkinson disease.[provided by RefSeq, Sep 2009] | 4 | 41256928 | 41268455 | Human | 421 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1323583 | ZFR | zinc finger RNA binding protein | This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternati ve polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016] | 5 | 32354350 | 32444740 | Human | 143 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
