NIPAL4 (NIPA like domain containing 4)

2014-11-01  

Identity

HGNC
LOCATION
5q33.3
LOCUSID
ALIAS
ARCI6,ICHTHYIN,ICHYN,SLC57A6
FUSION GENES

Other Information

Locus ID:

NCBI: 348938
MIM: 609383
HGNC: 28018
Ensembl: ENSG00000172548

Variants:

dbSNP: 348938
ClinVar: 348938
TCGA: ENSG00000172548
COSMIC: NIPAL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172548ENST00000311946Q0D2K0
ENSG00000172548ENST00000435489Q0D2K0
ENSG00000172548ENST00000519150H0YC31

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
232906332013Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.8
191975362009Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole.7
226224172012The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.7
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5
153177512004Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.0
175579272007Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.0
200161202010NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.0
220985312012Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.0

Citation

Dessen P

NIPAL4 (NIPA like domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70841/nipal4-(nipa-like-domain-containing-4)