| NIPAL4 |
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| Identifiers |
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| Aliases | NIPAL4, ARCI6, ICHTHYIN, ICHYN, NIPA like domain containing 4, SLC57A6 |
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| External IDs | OMIM: 609383; MGI: 2444671; HomoloGene: 133769; GeneCards: NIPAL4; OMA:NIPAL4 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 5 (human)[1] |
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| | Band | 5q33.3 | Start | 157,460,213 bp[1] |
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| End | 157,474,722 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 11 (mouse)[2] |
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| | Band | 11|11 B1.1 | Start | 46,038,982 bp[2] |
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| End | 46,057,335 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - skin of arm
- skin of abdomen
- skin of leg
- gingival epithelium
- testicle
- skin of thigh
- vulva
- C1 segment
- human penis
- nipple
|
| | Top expressed in | - transitional epithelium of urinary bladder
- lumbar subsegment of spinal cord
- esophagus
- belly cord
- skin of external ear
- skin of back
- lip
- skin of abdomen
- decidua
- otic vesicle
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - magnesium ion transmembrane transporter activity
| | Cellular component | - integral component of membrane
- membrane
| | Biological process | - magnesium ion transmembrane transport
- ion transport
- magnesium ion transport
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 5: 157.46 – 157.47 Mb | Chr 11: 46.04 – 46.06 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Gene
Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains.[5] NIPAL4 codes for the protein magnesium transporter NIPA4, which acts as a Mg2+
transporter.
Expression
NIPAL4 is mainly expressed in the skin, specifically in the granular layer of the epidermis.[6]
Function
NIPAL4 codes for a magnesium transporter that can also transport other divalent cations such as Ba2+, Mn2+, Sr2+ and Co2+, though to a much less extent than Mg2+.[5] There is also evidence that NIPAL4 is involved in the synthesis of very long chain fatty acids involved in the epidermal lipid metabolism.[7] Disruptions to this pathway results in impaired skin function, causing the symptoms of ARCI.[8]
Pathology
Mutations in this gene account for 16% of autosomal recessive congenital ichthyosis (ARCI) cases, making it the 2nd most common gene involved with this disease.[9] Since its first identification in 2004, 18 disease‐causing mutations have been reported in NIPAL4.[8]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000172548 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020411 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. (October 2004). "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis". Human Molecular Genetics. 13 (20): 2473–82. doi:10.1093/hmg/ddh263. PMID 15317751.
- ^ Wajid M, Kurban M, Shimomura Y, Christiano AM (2010). "NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis". Dermatology. 220 (1): 8–14. doi:10.1159/000265757. PMC 2855276. PMID 20016120.
- ^ Mauldin EA, Crumrine D, Casal ML, Jeong S, Opálka L, Vavrova K, et al. (June 2018). "Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines". The American Journal of Pathology. 188 (6): 1419–1429. doi:10.1016/j.ajpath.2018.02.008. PMC 5971224. PMID 29548991.
- ^ a b Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, et al. (December 2019). "Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4". Human Mutation. 40 (12): 2318–2333. doi:10.1002/humu.23883. PMID 31347739.
- ^ Fischer J, Bourrat E (March 2020). "Genetics of Inherited Ichthyoses and Related Diseases". Acta Dermato-Venereologica. 100 (7): adv00096-196. doi:10.2340/00015555-3432. PMC 9128940. PMID 32147747.
