IGSF3
entrez
3321
canonical
uniprot
O75054
canonical
ensembl
ENSG00000143061
resolver
ensp
ENSP00000321184
resolver
ensp
ENSP00000358495
resolver
ensp
ENSP00000358498
resolver
ensp
ENSP00000567147
resolver
ensp
ENSP00000567148
resolver
genesymbol
IGSF3
resolver
genesymbol_syn
EWI3
resolver
genesymbol_syn
KIAA0466
resolver
hgnc
HGNC:5950
resolver
uniprot
A6NJZ6
resolver
uniprot
A6NMC7
resolver
uniprot_entry
IGSF3_HUMAN
resolver
uniprot_sec
A6NJZ6
resolver
uniprot_sec
A6NMC7
resolver
amino_acid_sequence
MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVSGYQGPSEQNFQWSIYLPSSPEREVQIVSTMDSSFPYAIYTQRVRGGKIFIERVQGNSTLLHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLVVIPDSLQTTAMPQTLHRVEQDPLELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSRDFMLHSSSEYAQRQSLGEVRLDKLGRTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQPTDKEFTVRLETEKRLHTVGEPVEFRCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEFAHREARGQLKVAKESDSVFVLKIYHLRQEDSGKYNCRVTEREKTVTGEFIDKESKRPKNIPIIVLPLKSSISVEVASNASVILEGEDLRFSCSVRTAGRPQGRFSVIWQLVDRQNRRSNIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQPNSFSLGIFNSRKEDEGQYECHVTEWVRAVDGEWQIVGERRASTPISITALEMGFAVTAISRTPGVTYSDSFDLQCIIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTRDGGVQWGDRSSSFRTRTAIEKAESSNNVRLSISRASDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQPVTKLQVSKSKRTLTLVENKPIQLNCSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFEYGTYAEEEGLRARLQFERHVSGGLFSLTVQRAEVSDSGSYYCHVEEWLLSPNYAWYKLAEEVSGRTEVTVKQPDSRLRLSQAQGNLSVLETRQVQLECVVLNRTSITSQLMVEWFVWKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGVYRLFIQNVAVQDSGTYSCHVEEWLPSPSGMWYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQLDCSIVSRSSQDSRFAVAWYSLRTKAGGKRSSPGLEEQEEEREEEEEEDDDDDDDPTERTALLSVGPDAVFGPEGSPWEGRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPSPQKEWYRLTEEESAPIGIRVLDTSPTLQSIICSNDALFYFVFFYPFPIFGILIITILLVRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHPGAID
uniprot
proteins
disease_involvement
DISEASE: Lacrimal duct defect (LCDD) [MIM:149700]: A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus. {ECO:0000269|PubMed:24372406}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
135196
uniprot
proteins
pubmed
11504738
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14656960
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
24372406
uniprot
proteins
pubmed
9455484
uniprot
proteins
pubmed
9790749
uniprot
proteins
sequence_length
1194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 1125..1145; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins