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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p36.13
Chromosome location (bp)
16985958 - 17011928
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine 1. Also stimulates cellular uptake of polyamines and protects against polyamine toxicity 2. Plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity 3. Contributes to cellular zinc homeostasis 4. Confers cellular protection against Mn(2+) and Zn(2+) toxicity and mitochondrial stress 5. Required for proper lysosomal and mitochondrial maintenance 6,7. Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post-translational levels 8. Facilitates recruitment of deacetylase HDAC6 to lysosomes to deacetylate CTTN, leading to actin polymerization, promotion of autophagosome-lysosome fusion and completion of autophagy 9. Promotes secretion of exosomes as well as secretion of SCNA via exosomes 10,11. Plays a role in lipid homeostasis 12....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Translocase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000421[autophagosome membrane] GO:0005215[transporter activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005770[late endosome] GO:0005771[multivesicular body] GO:0005776[autophagosome] GO:0006812[cation transport] GO:0006874[cellular calcium ion homeostasis] GO:0006879[cellular iron ion homeostasis] GO:0006882[cellular zinc ion homeostasis] GO:0006914[autophagy] GO:0007041[lysosomal transport] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0010628[positive regulation of gene expression] GO:0010821[regulation of mitochondrion organization] GO:0012506[vesicle membrane] GO:0015203[polyamine transmembrane transporter activity] GO:0015417[ABC-type polyamine transporter activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016241[regulation of macroautophagy] GO:0016243[regulation of autophagosome size] GO:0016887[ATP hydrolysis activity] GO:0019829[ATPase-coupled cation transmembrane transporter activity] GO:0030003[cellular cation homeostasis] GO:0030133[transport vesicle] GO:0030145[manganese ion binding] GO:0031410[cytoplasmic vesicle] GO:0031902[late endosome membrane] GO:0031982[vesicle] GO:0032585[multivesicular body membrane] GO:0033157[regulation of intracellular protein transport] GO:0034220[ion transmembrane transport] GO:0034599[cellular response to oxidative stress] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043202[lysosomal lumen] GO:0046777[protein autophosphorylation] GO:0046872[metal ion binding] GO:0050714[positive regulation of protein secretion] GO:0052548[regulation of endopeptidase activity] GO:0055085[transmembrane transport] GO:0055088[lipid homeostasis] GO:0061462[protein localization to lysosome] GO:0061909[autophagosome-lysosome fusion] GO:0070300[phosphatidic acid binding] GO:0071287[cellular response to manganese ion] GO:0071294[cellular response to zinc ion] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:0097734[extracellular exosome biogenesis] GO:0140358[P-type transmembrane transporter activity] GO:1900180[regulation of protein localization to nucleus] GO:1901215[negative regulation of neuron death] GO:1902047[polyamine transmembrane transport] GO:1903135[cupric ion binding] GO:1903146[regulation of autophagy of mitochondrion] GO:1903543[positive regulation of exosomal secretion] GO:1903710[spermine transmembrane transport] GO:1904714[regulation of chaperone-mediated autophagy] GO:1905037[autophagosome organization] GO:1905123[regulation of glucosylceramidase activity] GO:1905165[regulation of lysosomal protein catabolic process] GO:1905166[negative regulation of lysosomal protein catabolic process] GO:1990938[peptidyl-aspartic acid autophosphorylation] GO:2000152[regulation of ubiquitin-specific protease activity]
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000421[autophagosome membrane] GO:0005215[transporter activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005770[late endosome] GO:0005771[multivesicular body] GO:0005776[autophagosome] GO:0006812[cation transport] GO:0006874[cellular calcium ion homeostasis] GO:0006879[cellular iron ion homeostasis] GO:0006882[cellular zinc ion homeostasis] GO:0006914[autophagy] GO:0007041[lysosomal transport] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0010628[positive regulation of gene expression] GO:0010821[regulation of mitochondrion organization] GO:0015203[polyamine transmembrane transporter activity] GO:0015417[ABC-type polyamine transporter activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016241[regulation of macroautophagy] GO:0016243[regulation of autophagosome size] GO:0016887[ATP hydrolysis activity] GO:0019829[ATPase-coupled cation transmembrane transporter activity] GO:0030003[cellular cation homeostasis] GO:0030133[transport vesicle] GO:0030145[manganese ion binding] GO:0031410[cytoplasmic vesicle] GO:0031902[late endosome membrane] GO:0031982[vesicle] GO:0032585[multivesicular body membrane] GO:0033157[regulation of intracellular protein transport] GO:0034220[ion transmembrane transport] GO:0034599[cellular response to oxidative stress] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043202[lysosomal lumen] GO:0046777[protein autophosphorylation] GO:0046872[metal ion binding] GO:0050714[positive regulation of protein secretion] GO:0052548[regulation of endopeptidase activity] GO:0055085[transmembrane transport] GO:0055088[lipid homeostasis] GO:0061462[protein localization to lysosome] GO:0061909[autophagosome-lysosome fusion] GO:0070300[phosphatidic acid binding] GO:0071287[cellular response to manganese ion] GO:0071294[cellular response to zinc ion] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:0097734[extracellular exosome biogenesis] GO:0140358[P-type transmembrane transporter activity] GO:1900180[regulation of protein localization to nucleus] GO:1901215[negative regulation of neuron death] GO:1902047[polyamine transmembrane transport] GO:1903135[cupric ion binding] GO:1903146[regulation of autophagy of mitochondrion] GO:1903543[positive regulation of exosomal secretion] GO:1903710[spermine transmembrane transport] GO:1904714[regulation of chaperone-mediated autophagy] GO:1905037[autophagosome organization] GO:1905165[regulation of lysosomal protein catabolic process] GO:1905166[negative regulation of lysosomal protein catabolic process] GO:1990938[peptidyl-aspartic acid autophosphorylation] GO:2000152[regulation of ubiquitin-specific protease activity]
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000421[autophagosome membrane] GO:0005215[transporter activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005770[late endosome] GO:0005771[multivesicular body] GO:0005776[autophagosome] GO:0006812[cation transport] GO:0006874[cellular calcium ion homeostasis] GO:0006879[cellular iron ion homeostasis] GO:0006882[cellular zinc ion homeostasis] GO:0006914[autophagy] GO:0007041[lysosomal transport] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0010628[positive regulation of gene expression] GO:0010821[regulation of mitochondrion organization] GO:0015203[polyamine transmembrane transporter activity] GO:0015417[ABC-type polyamine transporter activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016241[regulation of macroautophagy] GO:0016243[regulation of autophagosome size] GO:0016887[ATP hydrolysis activity] GO:0019829[ATPase-coupled cation transmembrane transporter activity] GO:0030003[cellular cation homeostasis] GO:0030133[transport vesicle] GO:0030145[manganese ion binding] GO:0031410[cytoplasmic vesicle] GO:0031902[late endosome membrane] GO:0031982[vesicle] GO:0032585[multivesicular body membrane] GO:0033157[regulation of intracellular protein transport] GO:0034220[ion transmembrane transport] GO:0034599[cellular response to oxidative stress] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043202[lysosomal lumen] GO:0046777[protein autophosphorylation] GO:0046872[metal ion binding] GO:0050714[positive regulation of protein secretion] GO:0052548[regulation of endopeptidase activity] GO:0055085[transmembrane transport] GO:0055088[lipid homeostasis] GO:0061462[protein localization to lysosome] GO:0061909[autophagosome-lysosome fusion] GO:0070300[phosphatidic acid binding] GO:0071287[cellular response to manganese ion] GO:0071294[cellular response to zinc ion] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:0097734[extracellular exosome biogenesis] GO:0140358[P-type transmembrane transporter activity] GO:1900180[regulation of protein localization to nucleus] GO:1901215[negative regulation of neuron death] GO:1902047[polyamine transmembrane transport] GO:1903135[cupric ion binding] GO:1903146[regulation of autophagy of mitochondrion] GO:1903543[positive regulation of exosomal secretion] GO:1903710[spermine transmembrane transport] GO:1904714[regulation of chaperone-mediated autophagy] GO:1905037[autophagosome organization] GO:1905165[regulation of lysosomal protein catabolic process] GO:1905166[negative regulation of lysosomal protein catabolic process] GO:1990938[peptidyl-aspartic acid autophosphorylation] GO:2000152[regulation of ubiquitin-specific protease activity]
Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
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