NHSL3
entrez
57648
canonical
uniprot
Q9P206
canonical
ensembl
ENSG00000162522
resolver
ensp
ENSP00000294521
resolver
ensp
ENSP00000362579
resolver
ensp
ENSP00000362580
resolver
ensp
ENSP00000383851
resolver
genesymbol
NHSL3
resolver
genesymbol_syn
KIAA1522
resolver
hgnc
HGNC:29301
resolver
uniprot
B4DQU8
resolver
uniprot
B5MDY0
resolver
uniprot
C9JH84
resolver
uniprot
Q8TCQ0
resolver
uniprot_entry
NHSL3_HUMAN
resolver
uniprot_sec
B4DQU8
resolver
uniprot_sec
B5MDY0
resolver
uniprot_sec
C9JH84
resolver
uniprot_sec
Q8TCQ0
resolver
amino_acid_sequence
MVVFVGRRLPALLGLFKKKGSAKAENDKHLSVGPGQGPGSAVDEHQDNVFFPSGRPPHLEELHTQAQEGLRSLQHQEKQKLNKGGWDHGDTQSIQSSRTGPDEDNISFCSQTTSYVAESSTAEDALSIRSEMIQRKGSTFRPHDSFPKSGKSGRRRRERRSTVLGLPQHVQKELGLRNEREAPGTPRAPGARDAVRIPTVDGRPRGTSGMGARVSLQALEAEAEAGAETEAMLQRHIDRVYRDDTFVGRSTGTRAPPLTRPMSLAVPGLTGGAGPAEPLSPAMSISPQATYLSKLIPHAVLPPTVDVVALGRCSLRTLSRCSLHSASPASVRSLGRFSSVSSPQPRSRHPSSSSDTWSHSQSSDTIVSDGSTLSSKGGSEGQPESSTASNSVVPPPQGGSGRGSPSGGSTAEASDTLSIRSSGQLSGRSVSLRKLKRPPPPPRRTHSLHQRGLAVPDGPLGLPPKPERKQQPQLPRPPTTGGSEGAGAAPCPPNPANSWVPGLSPGGSRRPPRSPERTLSPSSGYSSQSGTPTLPPKGLAGPPASPGKAQPPKPERVTSLRSPGASVSSSLTSLCSSSSDPAPSDRSGPQILTPLGDRFVIPPHPKVPAPFSPPPSKPRSPNPAAPALAAPAVVPGPVSTTDASPQSPPTPQTTLTPLQESPVISKDQSPPPSPPPSYHPPPPPTKKPEVVVEAPSASETAEEPLQDPNWPPPPPPAPEEQDLSMADFPPPEEAFFSVASPEPAGPSGSPELVSSPAASSSSATALQIQPPGSPDPPPAPPAPAPASSAPGHVAKLPQKEPVGCSKGGGPPREDVGAPLVTPSLLQMVRLRSVGAPGGAPTPALGPSAPQKPLRRALSGRASPVPAPSSGLHAAVRLKACSLAASEGLSSAQPNGPPEAEPRPPQSPASTASFIFSKGSRKLQLERPVSPETQADLQRNLVAELRSISEQRPPQAPKKSPKAPPPVARKPSVGVPPPASPSYPRAEPLTAPPTNGLPHTQDRTKRELAENGGVLQLVGPEEKMGLPGSDSQKELA
uniprot
proteins
disease_involvement
DISEASE: Note=Genetic variation involving NHSL3 may be a cause of atypical endothelial corneal dystrophy (ECD). The disease follows an autosomal dominant pattern of inheritance in the identified patients. Clinical characteristics of patients with the atypical form of ECD include peripheral endothelial opacities, an opaque ring along limbus, central endothelial opacities, central stromal opacities and corneal edema. The early phenotype of this atypical ECD is characterized by multiple small white translucent spots located in the Descemet membrane of the peripheral cornea. {ECO:0000269|PubMed:36796013}.
uniprot
proteins
function
FUNCTION: Able to directly activate the TNF-NFkappaB signaling pathway. {ECO:0000269|PubMed:32854746}.
uniprot
proteins
mass_dalton
107095
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20213681
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27098511
uniprot
proteins
pubmed
32854746
uniprot
proteins
pubmed
36796013
uniprot
proteins
sequence_length
1035
uniprot
proteins