Seroatlas · Human Serome Atlas

NIPAL4

Magnesium transporter NIPA4

Also known as: ICHYN, NIPA4_HUMAN, SLC57A6

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

Protein identityUniProt · HPA

UniProt accession: Q0D2K0
Gene: NIPAL4
Ensembl: ENSG00000172548
Chromosome: 5
Canonical length: 404 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

404 residues, UniProt reviewed canonical sequence.

>Q0D2K0|NIPAL4
     1  MELRVSNTSC ENGSLLHLYC SSQEVLCQIV NDLSPEVPSN ATFHSWQERI RQNYGFYIGL
    61  GLAFLSSFLI GSSVILKKKG LLRLVATGAT RAVDGGFGYL KDAMWWAGFL TMAAGEVANF
   121  GAYAFAPATV VTPLGALSVL ISAILSSYFL RESLNLLGKL GCVICVAGST VMVIHAPEEE
   181  KVTTIMEMAS KMKDTGFIVF AVLLLVSCLI LIFVIAPRYG QRNILIYIII CSVIGAFSVA
   241  AVKGLGITIK NFFQGLPVVR HPLPYILSLI LALSLSTQVN FLNRALDIFN TSLVFPIYYV
   301  FFTTVVVTSS IILFKEWYSM SAVDIAGTLS GFVTIILGVF MLHAFKDLDI SCASLPHMHK
   361  NPPPSPAPEP TVIRLEDKNV LVDNIELAST SSPEEKPKVF IIHS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NIPAL4 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): 0.35
Highest tissue expression: 63 nTPM

Expression across tissuesHPA

Tissue

skin: 63 nTPM
spinal cord: 21 nTPM
esophagus: 16 nTPM
vagina: 15 nTPM
urinary bladder: 13 nTPM
cervix: 11 nTPM

Single-cell type

suprabasal keratinocytes: 48 nCPM
urothelial cells: 30 nCPM
basal keratinocytes: 29 nCPM
esophageal suprabasal cells: 28 nCPM
esophageal basal cells: 20 nCPM
oligodendrocytes: 18 nCPM

Immune cell

naive B-cell: 4.9 nTPM
memory B-cell: 1.6 nTPM
eosinophil: 0.1 nTPM
total PBMC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

white matter: 37 nTPM
medulla oblongata: 25 nTPM
basal ganglia: 18 nTPM
pons: 17 nTPM
midbrain: 17 nTPM
cerebellum: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NIPAL4.

Disease | AllUniProt

Conditions NIPAL4 is implicated in, by any mechanism.

Ichthyosis, congenital, autosomal recessive 6 (ARCI6) MIM:612281

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 255 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive congenital ichthyosis 6
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis
Ichthyosis and erythrokeratoderma
Fetal anomalies with a likely genetic cause

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): 0.88
gnomAD pLI: 0
gnomAD missense Z: 1.21
DepMap mean gene effect: 0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

magnesium ion transport

Molecular functions

magnesium ion transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NIPAL4 as an antibody target. Whether an autoantibody or antibody against NIPAL4 could matter depends on whether native NIPAL4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NIPAL4 is annotated at the cell surface, where native NIPAL4 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 NIPAL4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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