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1.H.1.1.1
Claudin 16 (CLDN16; Paracellin) (defects in CLDN16 are the cause of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (primary hypomagnesemia) (Hou et al., 2007; Ikari et al., 2008).  Forms a Mg2+/Ca2+-selective pore together with Claudin-3 and Claudin-19 (Brandao et al. 2012; Milatz et al. 2017).  The tight junction archetecture and constituent proteins have been reviewed (Van Itallie and Anderson 2014). Claudin-16 and -19 form a stable dimer through cis-association of transmembrane domains 3 and 4, and mutations disrupting the claudin-16/19 cis-interaction increase tight junction ultrastructural complexity but reduce tight junction permeability (Gong et al. 2015).

Accession Number:Q9Y5I7
Protein Name:Cldn16
Length:305
Molecular Weight:33836.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:4
Location1 / Topology2 / Orientation3: Cell junction1 / Multi-pass membrane protein2
Substrate divalent cations

Cross database links:

Genevestigator: Q9Y5I7
HEGENOM: HBG280494
RefSeq: NP_006571.1   
Entrez Gene ID: 10686   
Pfam: PF00822   
OMIM: 248250  phenotype
603959  gene
KEGG: hsa:10686   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005923 C:tight junction
GO:0042802 F:identical protein binding
GO:0015095 F:magnesium ion transmembrane transporter act...
GO:0005198 F:structural molecule activity
GO:0016338 P:calcium-independent cell-cell adhesion
GO:0006875 P:cellular metal ion homeostasis
GO:0007588 P:excretion
GO:0006811 P:ion transport

References (4)

[1] “Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.”  Simon D.B.et.al.   10390358
[2] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[3] “Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.”  Weber S.et.al.   10878661
[4] “Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.”  Weber S.et.al.   11518780

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:	MTSRTPLLVT ACLYYSYCNS RHLQQGVRKS KRPVFSHCQV PETQKTDTRH LSGARAGVCP 
61:	CCHPDGLLAT MRDLLQYIAC FFAFFSAGFL IVATWTDCWM VNADDSLEVS TKCRGLWWEC 
121:	VTNAFDGIRT CDEYDSILAE HPLKLVVTRA LMITADILAG FGFLTLLLGL DCVKFLPDEP 
181:	YIKVRICFVA GATLLIAGTP GIIGSVWYAV DVYVERSTLV LHNIFLGIQY KFGWSCWLGM 
241:	AGSLGCFLAG AVLTCCLYLF KDVGPERNYP YSLRKAYSAA GVSMAKSYSA PRTETAKMYA 
301:	VDTRV