CLDN10
entrez
9071
canonical
uniprot
P78369
canonical
ensembl
ENSG00000134873
resolver
ensp
ENSP00000299339
resolver
ensp
ENSP00000366069
resolver
genesymbol
CLDN10
resolver
hgnc
HGNC:2033
resolver
uniprot
Q6IBF9
resolver
uniprot
Q96N78
resolver
uniprot_entry
CLD10_HUMAN
resolver
uniprot_sec
Q6IBF9
resolver
uniprot_sec
Q96N78
resolver
amino_acid_sequence
MASTASEIIAFMVSISGWVLVSSTLPTDYWKVSTIDGTVITTATYWANLWKACVTDSTGVSNCKDFPSMLALDGYIQACRGLMIAAVSLGFFGSIFALFGMKCTKVGGSDKAKAKIACLAGIVFILSGLCSMTGCSLYANKITTEFFDPLFVEQKYELGAALFIGWAGASLCIIGGVIFCFSISDNNKTPRYTYNGATSVMSSRTKYHGGEDFKTTNPSKQFDKNAYV
uniprot
proteins
disease_involvement
DISEASE: HELIX syndrome (HELIX) [MIM:617671]: An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. {ECO:0000269|PubMed:28686597, ECO:0000269|PubMed:28771254}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Forms paracellular channels: polymerizes in tight junction strands with cation- and anion-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability. {ECO:0000269|PubMed:19383724, ECO:0000269|PubMed:28686597, ECO:0000269|PubMed:35650657, ECO:0000269|PubMed:36008380}.; FUNCTION: [Isoform 1]: Forms cation-selective paracellular channels. In sweat glands and in the thick ascending limb (TAL) of Henle's loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28686597, PubMed:28771254, PubMed:35650657, PubMed:36008380). {ECO:0000269|PubMed:19383724, ECO:0000269|PubMed:28686597, ECO:0000269|PubMed:28771254, ECO:0000269|PubMed:35650657, ECO:0000269|PubMed:36008380}.; FUNCTION: [Isoform 2]: Forms anion-selective paracellular channels. In renal proximal tubules, it conveys selective chloride over hydrogencarbonate anion permeability which is required for renal chloride reabsorption and salt homeostasis. {ECO:0000250|UniProtKB:Q9Z0S6, ECO:0000269|PubMed:19383724, ECO:0000269|PubMed:36008380}.
uniprot
proteins
mass_dalton
24488
uniprot
proteins
mutagenesis
MUTAGEN 36; /note="D->A: No effect on tight junction strand formation and ion selectivity."; /evidence="ECO:0000269|PubMed:35650657"; MUTAGEN 64; /note="K->W,M: Hinders formation of tight junction strands. A small fraction of these mutants is integrated into tight junction network resulting in increased permeability for monovalent cations."; /evidence="ECO:0000269|PubMed:35650657
uniprot
proteins
protein_family
Claudin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19383724
uniprot
proteins
pubmed
19706394
uniprot
proteins
pubmed
28686597
uniprot
proteins
pubmed
28771254
uniprot
proteins
pubmed
35650657
uniprot
proteins
pubmed
36008380
uniprot
proteins
sequence_length
228
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell junction, tight junction {ECO:0000269|PubMed:19383724, ECO:0000269|PubMed:35650657}. Cell membrane {ECO:0000269|PubMed:19383724, ECO:0000269|PubMed:28686597, ECO:0000269|PubMed:28771254, ECO:0000269|PubMed:35650657}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 2]: Cell junction, tight junction {ECO:0000269|PubMed:19383724}. Cell membrane {ECO:0000269|PubMed:19383724}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 81..101; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 116..136; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 161..181; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins