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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27613601
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30643981
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28481424, 30106449
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40524177 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29664235
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 28481424
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 17928815
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 28546007, 29858376
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 10910037, 19654012, 28481424
★☆☆☆☆
Found in Text Mining only