Seroatlas · Human Serome Atlas

NIPA1

Magnesium transporter NIPA1

Also known as: MGC35570, NIPA1_HUMAN, SLC57A1, SPG6

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7RTP0
Gene: NIPA1
Ensembl: ENSG00000170113
Chromosome: 15
Canonical length: 329 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

329 residues, UniProt reviewed canonical sequence.

>Q7RTP0|NIPA1
     1  MGTAAAAAAA AAAAAAGEGA RSPSPAAVSL GLGVAVVSSL VNGSTFVLQK KGIVRAKRRG
    61  TSYLTDIVWW AGTIAMAVGQ IGNFLAYTAV PTVLVTPLGA LGVPFGSILA SYLLKEKLNI
   121  LGKLGCLLSC AGSVVLIIHS PKSESVTTQA ELEEKLTNPV FVGYLCIVLL MLLLLIFWIA
   181  PAHGPTNIMV YISICSLLGS FTVPSTKGIG LAAQDILHNN PSSQRALCLC LVLLAVLGCS
   241  IIVQFRYINK ALECFDSSVF GAIYYVVFTT LVLLASAILF REWSNVGLVD FLGMACGFTT
   301  VSVGIVLIQV FKEFNFNLGE MNKSNMKTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NIPA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 9
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 57 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 57 nTPM
midbrain: 39 nTPM
hippocampal formation: 26 nTPM
basal ganglia: 26 nTPM
hypothalamus: 22 nTPM
amygdala: 21 nTPM

Single-cell type

oligodendrocytes: 70 nCPM
distal convoluted tubule cells: 52 nCPM
renal collecting duct intercalated cells: 51 nCPM
brain inhibitory neurons: 44 nCPM
loop of henle epithelial cells: 43 nCPM
renal connecting tubule cells: 43 nCPM

Immune cell

plasmacytoid DC: 3.9 nTPM
naive B-cell: 1.1 nTPM
memory B-cell: 0.9 nTPM
memory CD4 T-cell: 0.8 nTPM
T-reg: 0.8 nTPM
MAIT T-cell: 0.6 nTPM

Brain region

white matter: 68 nTPM
cerebellum: 63 nTPM
midbrain: 63 nTPM
spinal cord: 63 nTPM
basal ganglia: 62 nTPM
thalamus: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NIPA1.

Disease | AllUniProt

Conditions NIPA1 is implicated in, by any mechanism.

Spastic paraplegia 6, autosomal dominant (SPG6) MIM:600363

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 376 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 6
Hereditary spastic paraplegia
Spastic paraplegia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.04
gnomAD pLI: 0.01
gnomAD missense Z: 1.94
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

magnesium ion transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NIPA1 as an antibody target. Whether an autoantibody or antibody against NIPA1 could matter depends on whether native NIPA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NIPA1 is annotated at the cell surface, where native NIPA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NIPA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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