HYCC1
entrez
84668
canonical
uniprot
Q9BYI3
canonical
ensembl
ENSG00000122591
resolver
ensp
ENSP00000386246
resolver
ensp
ENSP00000403396
resolver
ensp
ENSP00000575240
resolver
ensp
ENSP00000756513
resolver
ensp
ENSP00000777936
resolver
genesymbol
HYCC1
resolver
genesymbol_syn
DRCTNNB1A
resolver
genesymbol_syn
FAM126A
resolver
hgnc
HGNC:24587
resolver
uniprot
A0A024RA06
resolver
uniprot
A4D145
resolver
uniprot
B8ZZJ1
resolver
uniprot
Q6N010
resolver
uniprot
Q75MR4
resolver
uniprot
Q7LDZ4
resolver
uniprot
Q96MX1
resolver
uniprot
Q96NQ6
resolver
uniprot_entry
HYCCI_HUMAN
resolver
uniprot_sec
A0A024RA06
resolver
uniprot_sec
A4D145
resolver
uniprot_sec
B8ZZJ1
resolver
uniprot_sec
Q6N010
resolver
uniprot_sec
Q75MR4
resolver
uniprot_sec
Q7LDZ4
resolver
uniprot_sec
Q96MX1
resolver
uniprot_sec
Q96NQ6
resolver
amino_acid_sequence
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQLLQFTLQFLPELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEVLTFLLLCYNAALTYMPSVSLQSLCQICSRICVCGYPRQHVRKYKGISSRIPVSSGFMVQMLTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVANAIKASLPHGPMKSNKEGTRCIQVEITPTSSRISRNAVTSMSIRGHRWKRHGNTELTGQEELMEISEVDEGFYSRAASSTSQSGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGESCKDHFARKQTQRAQSENLELLSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANRFSACSLQEEKLIYVSERTELPMKHQSGQQRPPSISITLSTD
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:21911699, ECO:0000269|PubMed:23998934, ECO:0000269|PubMed:26571211}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). HYCC1 plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:16951682, PubMed:26571211). May also have a role in the beta-catenin/Lef signaling pathway (Probable). {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:26571211, ECO:0000305|PubMed:10910037}.
uniprot
proteins
mass_dalton
57625
uniprot
proteins
protein_family
Hyccin family
uniprot
proteins
pubmed
10910037
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16951682
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
21911699
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23998934
uniprot
proteins
pubmed
26571211
uniprot
proteins
pubmed
28887846
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10910037, ECO:0000269|PubMed:26571211}. Cell membrane {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:26571211}. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex. {ECO:0000269|PubMed:26571211}.
uniprot
proteins