KIAA0319
entrez
9856
canonical
uniprot
Q5VV43
canonical
ensembl
ENSG00000137261
resolver
ensp
ENSP00000367459
resolver
ensp
ENSP00000401086
resolver
ensp
ENSP00000439700
resolver
ensp
ENSP00000442403
resolver
ensp
ENSP00000483665
resolver
ensp
ENSP00000571567
resolver
ensp
ENSP00000607516
resolver
enst
ENST00000616673
resolver
genesymbol
KIAA0319
resolver
hgnc
HGNC:21580
resolver
uniprot
A0A087X0U9
resolver
uniprot
A7MD37
resolver
uniprot
B2RTU7
resolver
uniprot
B4DHA7
resolver
uniprot
B4DK75
resolver
uniprot
B7ZML3
resolver
uniprot
F5H123
resolver
uniprot
Q9UJC8
resolver
uniprot
Q9Y4G7
resolver
uniprot_entry
A0A087X0U9_HUMAN
resolver
uniprot_entry
K0319_HUMAN
resolver
uniprot_sec
A7MD37
resolver
uniprot_sec
B2RTU7
resolver
uniprot_sec
B4DHA7
resolver
uniprot_sec
B4DK75
resolver
uniprot_sec
B7ZML3
resolver
uniprot_sec
F5H123
resolver
uniprot_sec
Q9UJC8
resolver
uniprot_sec
Q9Y4G7
resolver
amino_acid_sequence
MAPPTGVLSSLLLLVTIAGCARKQCSEGRTYSNAVISPNLETTRIMRVSHTFPVVDCTAACCDLSSCDLAWWFEGRCYLVSCPHKENCEPKKMGPIRSYLTFVLRPVQRPAQLLDYGDMMLNRGSPSGIWGDSPEDIRKDLTFLGKDWGLEEMSEYSDDYRELEKDLLQPSGKQEPRGSAEYTDWGLLPGSEGAFNSSVGDSPAVPAETQQDPELHYLNESASTPAPKLPERSVLLPLPTTPSSGEVLEKEKASQLQEQSSNSSGKEVLMPSHSLPPASLELSSVTVEKSPVLTVTPGSTEHSIPTPPTSAAPSESTPSELPISPTTAPRTVKELTVSAGDNLIITLPDNEVELKAFVAPAPPVETTYNYEWNLISHPTDYQGEIKQGHKQTLNLSQLSVGLYVFKVTVSSENAFGEGFVNVTVKPARRVNLPPVAVVSPQLQELTLPLTSALIDGSQSTDDTEIVSYHWEEINGPFIEEKTSVDSPVLRLSNLDPGNYSFRLTVTDSDGATNSTTAALIVNNAVDYPPVANAGPNHTITLPQNSITLNGNQSSDDHQIVLYEWSLGPGSEGKHVVMQGVQTPYLHLSAMQEGDYTFQLKVTDSSRQQSTAVVTVIVQPENNRPPVAVAGPDKELIFPVESATLDGSSSSDDHGIVFYHWEHVRGPSAVEMENIDKAIATVTGLQVGTYHFRLTVKDQQGLSSTSTLTVAVKKENNSPPRARAGGRHVLVLPNNSITLDGSRSTDDQRIVSYLWIRDGQSPAAGDVIDGSDHSVALQLTNLVEGVYTFHLRVTDSQGASDTDTATVEVQPDPRKSGLVELTLQVGVGQLTEQRKDTLVRQLAVLLNVLDSDIKVQKIRAHSDLSTVIVFYVQSRPPFKVLKAAEVARNLHMRLSKEKADFLLFKVLRVDTAGCLLKCSGHGHCDPLTKRCICSHLWMENLIQRYIWDGESNCEWSIFYVTVLAFTLIVLTGGFTWLCICCCKRQKRTKIRKKTKYTILDNMDEQERMELRPKYGIKHRSTEHNSSLMVSESEFDSDQDTIFSREKMERGNPKVSMNGSIRNGASFSYCSKDR
uniprot
proteins
disease_involvement
DISEASE: Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269|PubMed:15717286, ECO:0000269|PubMed:16600991}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites. {ECO:0000269|PubMed:19679544}.
uniprot
proteins
mass_dalton
117763
uniprot
proteins
mutagenesis
MUTAGEN 995; /note="Y->A: Loss of interaction with AP2M1 and impaired endocytosis."; /evidence="ECO:0000269|PubMed:19419997
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:18063668}.; PTM: O-glycosylated. {ECO:0000269|PubMed:18063668}.; PTM: Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus. {ECO:0000269|PubMed:20943657}.
uniprot
proteins
pubmed
12834540
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15717286
uniprot
proteins
pubmed
16600991
uniprot
proteins
pubmed
17846832
uniprot
proteins
pubmed
18063668
uniprot
proteins
pubmed
19419997
uniprot
proteins
pubmed
19679544
uniprot
proteins
pubmed
20943657
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1072
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18063668, ECO:0000269|PubMed:19419997}; Single-pass type I membrane protein {ECO:0000269|PubMed:18063668}. Early endosome membrane {ECO:0000269|PubMed:19419997}; Single-pass type I membrane protein {ECO:0000269|PubMed:18063668}. Note=Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted. {ECO:0000269|PubMed:18063668}.
uniprot
proteins
transmembrane_region
TRANSMEM 956..976; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins