NIPA1
entrez
123606
canonical
uniprot
Q7RTP0
canonical
ensembl
ENSG00000170113
resolver
ensembl
ENSG00000288478
resolver
ensp
ENSP00000337452
resolver
ensp
ENSP00000453722
resolver
genesymbol
NIPA1
resolver
genesymbol_syn
SPG6
resolver
hgnc
HGNC:17043
resolver
uniprot
B2RA76
resolver
uniprot
Q5HYA9
resolver
uniprot
Q7KZB0
resolver
uniprot
Q86XW4
resolver
uniprot
Q8TAY1
resolver
uniprot_entry
NIPA1_HUMAN
resolver
uniprot_entry
Q8TAY1_HUMAN
resolver
uniprot_sec
B2RA76
resolver
uniprot_sec
Q5HYA9
resolver
uniprot_sec
Q7KZB0
resolver
uniprot_sec
Q86XW4
resolver
amino_acid_sequence
MGTAAAAAAAAAAAAAGEGARSPSPAAVSLGLGVAVVSSLVNGSTFVLQKKGIVRAKRRGTSYLTDIVWWAGTIAMAVGQIGNFLAYTAVPTVLVTPLGALGVPFGSILASYLLKEKLNILGKLGCLLSCAGSVVLIIHSPKSESVTTQAELEEKLTNPVFVGYLCIVLLMLLLLIFWIAPAHGPTNIMVYISICSLLGSFTVPSTKGIGLAAQDILHNNPSSQRALCLCLVLLAVLGCSIIVQFRYINKALECFDSSVFGAIYYVVFTTLVLLASAILFREWSNVGLVDFLGMACGFTTVSVGIVLIQVFKEFNFNLGEMNKSNMKTD
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:14508710, ECO:0000269|PubMed:15643603}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Zn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). {ECO:0000250|UniProtKB:Q8BHK1}.
uniprot
proteins
mass_dalton
34562
uniprot
proteins
protein_family
NIPA family
uniprot
proteins
pubmed
12805275
uniprot
proteins
pubmed
14508708
uniprot
proteins
pubmed
14508710
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15643603
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22814378
uniprot
proteins
sequence_length
329
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8BHK1}; Multi-pass membrane protein {ECO:0000255}. Early endosome {ECO:0000250|UniProtKB:Q8BHK1}. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO:0000250|UniProtKB:Q8BHK1}.
uniprot
proteins
transmembrane_region
TRANSMEM 28..48; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 67..87; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 89..109; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 160..180; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 184..204; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 225..245; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 260..280; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 291..311; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins