Human Gene NIPA1 (ENST00000337435.9) from GENCODE V44
Description: Homo sapiens NIPA magnesium transporter 1 (NIPA1), transcript variant 1, mRNA. (from RefSeq NM_144599) RefSeq Summary (NM_144599): This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]. Gencode Transcript: ENST00000337435.9 Gencode Gene: ENSG00000170113.16 Transcript (Including UTRs) Position: hg38 chr15:22,786,644-22,829,789 Size: 43,146 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr15:22,786,657-22,824,239 Size: 37,583 Coding Exon Count: 5
ID:NIPA1_HUMAN DESCRIPTION: RecName: Full=Magnesium transporter NIPA1; AltName: Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 1; AltName: Full=Spastic paraplegia 6 protein; FUNCTION: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (Potential). Early endosome (By similarity). Note=Recruited to the cell membrane in response to low extracellular magnesium (By similarity). TISSUE SPECIFICITY: Widely expressed with highest levels in neuronal tissues. DISEASE: Defects in NIPA1 are the cause of spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SIMILARITY: Belongs to the NIPA family. SEQUENCE CAUTION: Sequence=BAC67707.1; Type=Erroneous initiation; Sequence=BAC67707.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NIPA1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF05653 - Magnesium transporter NIPA
ModBase Predicted Comparative 3D Structure on Q7RTP0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0015095 magnesium ion transmembrane transporter activity
Biological Process: GO:0006811 ion transport GO:0015693 magnesium ion transport GO:0055085 transmembrane transport GO:1903830 magnesium ion transmembrane transport
BX537997 - Homo sapiens mRNA; cDNA DKFZp451P2311 (from clone DKFZp451P2311). BC025678 - Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1, mRNA (cDNA clone IMAGE:5203620), partial cds. AB590048 - Synthetic construct DNA, clone: pFN21AE0293, Homo sapiens NIPA1 gene for non imprinted in Prader-Willi/Angelman syndrome 1, without stop codon, in Flexi system. BC156247 - Synthetic construct Homo sapiens clone IMAGE:100061680, MGC:190071 non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) mRNA, encodes complete protein. BC172484 - Synthetic construct Homo sapiens clone IMAGE:100069178, MGC:199189 non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) mRNA, encodes complete protein. AK314073 - Homo sapiens cDNA, FLJ94740, Homo sapiens non-imprinted in Prader-Willi/Angelman syndrome 1(NIPA1), mRNA. BC103705 - Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1, mRNA (cDNA clone IMAGE:6138727), complete cds. AK057846 - Homo sapiens cDNA FLJ25117 fis, clone CBR05757. DQ894438 - Synthetic construct Homo sapiens clone IMAGE:100008898; FLH177795.01L; RZPDo839E02125D non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) gene, encodes complete protein. KJ895379 - Synthetic construct Homo sapiens clone ccsbBroadEn_04773 NIPA1 gene, encodes complete protein. KR710646 - Synthetic construct Homo sapiens clone CCSBHm_00015184 NIPA1 (NIPA1) mRNA, encodes complete protein. KR710647 - Synthetic construct Homo sapiens clone CCSBHm_00015185 NIPA1 (NIPA1) mRNA, encodes complete protein. KR710648 - Synthetic construct Homo sapiens clone CCSBHm_00015186 NIPA1 (NIPA1) mRNA, encodes complete protein. DQ891252 - Synthetic construct clone IMAGE:100003882; FLH177799.01X; RZPDo839E02126D non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) gene, encodes complete protein. AB089319 - Homo sapiens mRNA for hypothetical protein, complete cds. BX648722 - Homo sapiens mRNA; cDNA DKFZp686N0847 (from clone DKFZp686N0847). DQ582740 - Homo sapiens piRNA piR-32852, complete sequence. JD489584 - Sequence 470608 from Patent EP1572962. JD215854 - Sequence 196878 from Patent EP1572962. JD319037 - Sequence 300061 from Patent EP1572962. JD209981 - Sequence 191005 from Patent EP1572962. JD250707 - Sequence 231731 from Patent EP1572962. DQ597944 - Homo sapiens piRNA piR-36010, complete sequence. DQ575905 - Homo sapiens piRNA piR-44017, complete sequence.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q7RTP0 (Reactome details) participates in the following event(s):
R-HSA-5336453 NIPAs transport Mg2+ from extracellular region to cytosol R-HSA-5223345 Miscellaneous transport and binding events R-HSA-382551 Transport of small molecules