SASH1
entrez
23328
canonical
uniprot
O94885
canonical
ensembl
ENSG00000111961
resolver
ensp
ENSP00000356437
resolver
enst
ENST00000367467
resolver
genesymbol
SASH1
resolver
genesymbol_syn
KIAA0790
resolver
genesymbol_syn
PEPE1
resolver
hgnc
HGNC:19182
resolver
uniprot
Q5TGN5
resolver
uniprot
Q8TAI0
resolver
uniprot
Q9H7R7
resolver
uniprot_entry
SASH1_HUMAN
resolver
uniprot_sec
Q5TGN5
resolver
uniprot_sec
Q8TAI0
resolver
uniprot_sec
Q9H7R7
resolver
amino_acid_sequence
MEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTFLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTWPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSPDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMYAGTLSTAGFSTLSQVPSLSHTCLQEAGITEERHIRKLLSAARLFKLPPGPEAM
uniprot
proteins
disease_involvement
DISEASE: Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500]: A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269|PubMed:23333244, ECO:0000269|PubMed:26203640, ECO:0000269|PubMed:27659786, ECO:0000269|PubMed:27840890, ECO:0000269|PubMed:27885802, ECO:0000269|PubMed:29956681}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma (CAPOK) [MIM:618373]: An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. {ECO:0000269|PubMed:25315659}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). {ECO:0000269|PubMed:23333244, ECO:0000269|PubMed:23776175, ECO:0000269|PubMed:25315659}.
uniprot
proteins
mass_dalton
136653
uniprot
proteins
mutagenesis
MUTAGEN 852..860; /note="Missing: Abolishes interaction with TRAF6."; /evidence="ECO:0000269|PubMed:23776175
uniprot
proteins
pubmed
12771949
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23333244
uniprot
proteins
pubmed
23776175
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25315659
uniprot
proteins
pubmed
26203640
uniprot
proteins
pubmed
27659786
uniprot
proteins
pubmed
27840890
uniprot
proteins
pubmed
27885802
uniprot
proteins
pubmed
29956681
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1247
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23333244}.
uniprot
proteins