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NIPA1 NIPA magnesium transporter 1 [ Homo sapiens (human) ]

Gene ID: 123606, updated on 7-Dec-2018

Summary

Official Symbol
NIPA1provided by HGNC
Official Full Name
NIPA magnesium transporter 1provided by HGNC
Primary source
HGNC:HGNC:17043
See related
Ensembl:ENSG00000170113 MIM:608145
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FSP3; SPG6; SLC57A1
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 16.6), thyroid (RPKM 6.7) and 22 other tissues See more
Orthologs

Genomic context

See NIPA1 in Genome Data Viewer
Location:
15q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (22786225..22829789)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (23043279..23086843, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene C-x9-C motif containing 2 pseudogene Neighboring gene uncharacterized LOC283683 Neighboring gene golgin subfamily A member 6-like protein 2 Neighboring gene NIPA magnesium transporter 2 Neighboring gene cytoplasmic FMR1 interacting protein 1 Neighboring gene tubulin gamma complex associated protein 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia 6
MedGen: C1838192 OMIM: 600363 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • MGC35570, MGC102724

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
early endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
magnesium transporter NIPA1
Names
non imprinted in Prader-Willi/Angelman syndrome 1
non-imprinted in Prader-Willi/Angelman syndrome region protein 1
spastic paraplegia 6 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009056.1 RefSeqGene

    Range
    5408..48565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142275.1NP_001135747.1  magnesium transporter NIPA1 isoform 2

    See identical proteins and their annotated locations for NP_001135747.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon and downstream start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC025678, BK001020
    Consensus CDS
    CCDS73692.1
    UniProtKB/Swiss-Prot
    Q7RTP0
    UniProtKB/TrEMBL
    A0A024R344, Q8TAY1
    Related
    ENSP00000453722.1, ENST00000561183.5
    Conserved Domains (1) summary
    cl23754
    Location:1238
    EamA; EamA-like transporter family
  2. NM_144599.5NP_653200.2  magnesium transporter NIPA1 isoform 1

    See identical proteins and their annotated locations for NP_653200.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK314073, BK001020
    Consensus CDS
    CCDS73691.1
    UniProtKB/Swiss-Prot
    Q7RTP0
    Related
    ENSP00000337452.4, ENST00000337435.8
    Conserved Domains (1) summary
    cl23754
    Location:31313
    EamA; EamA-like transporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    22786225..22829789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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