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2.A.7.25.4
The ichthyin (ICHN) autosomal recessive congenital ichthyosis (ARCI) disease protein (404 aas; 9TMSs)

Accession Number:Q0D2K0
Protein Name:Ichthyin aka ICHN
Length:466
Molecular Weight:50058.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:9
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Unknown

Cross database links:

Genevestigator: Q0D2K0
eggNOG: prNOG15429
RefSeq: NP_001092757.1    NP_001165763.1   
Entrez Gene ID: 348938   
Pfam: PF05653   
OMIM: 609383  gene
612281  phenotype
KEGG: hsa:348938   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0004872 F:receptor activity
GO:0006811 P:ion transport

References (5)

[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 Teamet.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

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
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