SLC57A1
Protein name: NIPA1 Aliases: N/D Substrates: Mg2+ [PMID: 17166836], also Sr2+, Fe2+ and Co2+ to a lesser extent [PMID: 18667602] Transport type: N/D Tissue and cellular expression: Constitutively express at low levels, significant enrichment in the brain (human) [PMID: 14508710]; widely expressed, including heart, kidney, liver, colon, less in the brain, not in the small intestine (mouse) [PMID: 17166836] Subcellular expression: Early endosomes, as well as plasma membrane [PMID: 17166836] Disease: Dominant hereditary spastic paraplegia (SPG6) [PMID: 14508710], amyotrophic lateral sclerosis (ALS) [PMID: 22378146] Locus: 15q11.2 Sequence ID: NP_001135747.1, NM_001142275.1 NP_653200.2, NM_144599.4 Gene ID: 123606 Splice variants: N/DNIPA1_HUMAN (UniProt)
Gene names: NIPA1, SPG6Protein names and data: NIPA1_HUMAN, Full=Magnesium transporter NIPA1, Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 1; Full=Spastic paraplegia 6 protein Length: 329 a.a., Mass: 34562 Da,
fasta formatted sequence
Database cross-references
UniProt: Q7RTP0OMIM: 600363 608145
Ensembl: ENST00000337435
GeneCard: NIPA1
TCDB: 2.A.7.25.1
HGNC: HGNC:17043
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