Gene Gene information from NCBI Gene database.
Entrez ID 84668
Gene name Hyccin PI4KA lipid kinase complex subunit 1
Gene symbol HYCC1
Synonyms (NCBI Gene)
DRCTNNB1AFAM126AHCCHLD5
Chromosome 7
Chromosome location 7p15.3
SNPs SNP information provided by dbSNP.
10
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.
455
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26571211, 26871637, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 26571211
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610531 24587 ENSG00000122591
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
311
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypomyelination and Congenital Cataract Likely pathogenic; Pathogenic rs755869015, rs2128200575, rs1784456045, rs139065525, rs72549406, rs72549405, rs72549407, rs766925936, rs2534440798, rs1784456196, rs2534435171, rs2534462531, rs1131691757, rs780540757, rs1562502139 RCV001563655
RCV001807880
RCV001949315
RCV002006855
RCV001949452
RCV000001273
RCV000001274
RCV000001275
RCV002226833
RCV003035206
RCV003226622
RCV003230868
RCV003988662
RCV006438100
RCV001783021
RCV000785923
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs115772574 RCV005914008
Cervical cancer Benign rs115772574 RCV005914009
HYCC1-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs771923181, rs76265662, rs142984808, rs2534332267, rs761668637, rs550919684, rs781042415, rs139620522, rs77793692, rs757865944, rs756679984, rs115568145, rs146913158, rs192409840, rs148453182
View all (2 more)
RCV003911219
RCV003922593
RCV004757220
RCV003892264
RCV003902043
RCV003964405
RCV003909666
RCV003959024
RCV003922173
RCV003952263
RCV003956824
RCV003948168
RCV003920390
RCV003920431
RCV003960572
RCV003975675
RCV003897988
Ovarian serous cystadenocarcinoma Benign rs150739070, rs115772574 RCV005896829
RCV005914010