2.A.7.25.4
The ichthyin (ICHN; Nipal4; Nipa4; SLC57A6) autosomal recessive congenital ichthyosis (ARCI) disease Mg2+ transport protein (466 aas; 9 TMSs). It transports Mg2+ as well as other divalent cations such as Ba2+, Mn2+, Sr2+ and Co2+, but to a much less extent than Mg2+. It may be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway (Lefèvre et al. 2004). Disease-causing mutations near the transport channel cavity lead to changes in channel architecture and ARCI function (Laadhar et al. 2019).
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| Accession Number: | Q0D2K0 |
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| Protein Name: | Ichthyin aka ICHN |
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| Length: | 466 |
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| Molecular Weight: | 50058.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 9 |
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| Location1 / Topology2 / Orientation3: |
Membrane1 / Multi-pass membrane protein2 |
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| Substrate |
barium(2+), strontium(2+), magnesium(2+), cobalt(2+), manganese(2+) |
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| RefSeq: |
NP_001092757.1
NP_001165763.1
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| Entrez Gene ID: |
348938
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| Pfam: |
PF05653
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| OMIM: |
609383 gene
612281 phenotype
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| KEGG: |
hsa:348938
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[1] “Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.” Dahlqvist J. et.al. 17557927
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.” Ota T. et.al. 14702039
[3] “The DNA sequence and comparative analysis of human chromosome 5.” Schmutz J. et.al. 15372022
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Team et.al. 15489334
[5] “Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.” Lefevre C. et.al. 15317751
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1: MPGDSSPGTL PLWDASLSPP LGPDPGGFSR ASHAGDKSRP PAPELGSPGA VRPRVGSCAP
61: GPMELRVSNT SCENGSLLHL YCSSQEVLCQ IVNDLSPEVP SNATFHSWQE RIRQNYGFYI
121: GLGLAFLSSF LIGSSVILKK KGLLRLVATG ATRAVDGGFG YLKDAMWWAG FLTMAAGEVA
181: NFGAYAFAPA TVVTPLGALS VLISAILSSY FLRESLNLLG KLGCVICVAG STVMVIHAPE
241: EEKVTTIMEM ASKMKDTGFI VFAVLLLVSC LILIFVIAPR YGQRNILIYI IICSVIGAFS
301: VAAVKGLGIT IKNFFQGLPV VRHPLPYILS LILALSLSTQ VNFLNRALDI FNTSLVFPIY
361: YVFFTTVVVT SSIILFKEWY SMSAVDIAGT LSGFVTIILG VFMLHAFKDL DISCASLPHM
421: HKNPPPSPAP EPTVIRLEDK NVLVDNIELA STSSPEEKPK VFIIHS