Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84668
Gene name Gene Name - the full gene name approved by the HGNC.
Hyccin PI4KA lipid kinase complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HYCC1
Synonyms (NCBI Gene) Gene synonyms aliases
DRCTNNB1A, FAM126A, HCC, HLD5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HCC, HLD5
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs72549405 C>T Pathogenic Splice donor variant
rs72549406 C>A,G Not-provided, pathogenic Splice donor variant
rs72549407 A>C,G Pathogenic Missense variant, coding sequence variant
rs143894913 T>C Conflicting-interpretations-of-pathogenicity 3 prime UTR variant, intron variant, coding sequence variant, missense variant
rs146591904 C>G Conflicting-interpretations-of-pathogenicity, uncertain-significance 3 prime UTR variant, intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024938 hsa-miR-215-5p Microarray 19074876
MIRT026523 hsa-miR-192-5p Microarray 19074876
MIRT052001 hsa-let-7b-5p CLASH 23622248
MIRT044220 hsa-miR-301a-3p CLASH 23622248
MIRT044013 hsa-miR-374a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26571211, 26871637, 32296183
GO:0005829 Component Cytosol IDA 26571211
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 26571211
GO:0042552 Process Myelination ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610531 24587 ENSG00000122591
Protein
UniProt ID Q9BYI3
Protein name Hyccin (Down-regulated by CTNNB1 protein A)
Protein 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
PDB 5DSE , 6BQ1 , 9B9G , 9BAX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09790 Hyccin 22 330 Hyccin Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. {ECO:0000269|PubMed:10910037}.
Sequence
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQL
FEFYRSGEEQLLQFTLQFLPELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHT
KVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEV
LTFLLLCYNAALTYMPSVSLQSLCQICSRICVCGYPRQHVRKYKGISSRIPVSSGFMVQM
LTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVANAIKASLPHGPMKSNKEGTRC
IQVEITPTSSRISRNAVTSMSIRGHRWKRH
GNTELTGQEELMEISEVDEGFYSRAASSTS
QSGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGESCKDHFARKQTQRAQSENLEL
LSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANR
FSACSLQEEKLIYVSERTELPMKHQSGQQRPPSISITLSTD
Sequence length 521
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypomyelination and congenital cataract HYPOMYELINATION AND CONGENITAL CATARACT, Hypomyelination-congenital cataract syndrome rs72549405, rs72549406, rs72549407, rs780540757, rs1562502139 16951682, 26571211, 25655951, 17928815, 21911699, 23998934
Mental retardation Profound Mental Retardation, Mental deficiency, Moderate intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS