U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    HYCC1 hyccin PI4KA lipid kinase complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 84668, updated on 9-Jun-2024

    Summary

    Official Symbol
    HYCC1provided by HGNC
    Official Full Name
    hyccin PI4KA lipid kinase complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:24587
    See related
    Ensembl:ENSG00000122591 MIM:610531; AllianceGenome:HGNC:24587
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HCC; HLD5; FAM126A; DRCTNNB1A
    Summary
    The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.3), testis (RPKM 6.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HYCC1 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (22895843..23014130, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23030828..23150674, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22973830..23053749, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986776 Neighboring gene uncharacterized LOC124901600 Neighboring gene ribosomal protein L12 pseudogene 10 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:23028535-23029046 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:23029047-23029557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25713 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:23052451-23053132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25715 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:23060419-23061618 Neighboring gene uncharacterized LOC105375185 Neighboring gene uncharacterized LOC105375186

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hypomyelination and Congenital Cataract Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phosphatidylinositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hyccin
    Names
    down regulated by Ctnnb1, a
    down-regulated by CTNNB1 protein A
    family with sequence similarity 126 member A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008392.2 RefSeqGene

      Range
      5000..84919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363466.2NP_001350395.1  hyccin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005682, AC006039
      Consensus CDS
      CCDS87486.1
      Related
      ENSP00000386246.1, ENST00000409923.5
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin
    2. NM_001363467.2NP_001350396.1  hyccin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA811006, AC005682, AL833296, BC018710, CN389323, DA485353
      UniProtKB/TrEMBL
      A0A0S2Z6M9
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin
    3. NM_032581.4NP_115970.2  hyccin isoform 1

      See identical proteins and their annotated locations for NP_115970.2

      Status: REVIEWED

      Source sequence(s)
      AA811006, AC005682, AL833296, BC018710, DB099987
      Consensus CDS
      CCDS5377.1
      UniProtKB/Swiss-Prot
      A0A024RA06, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6, Q9BYI3
      UniProtKB/TrEMBL
      A0A7P0T8K2
      Related
      ENSP00000403396.2, ENST00000432176.7
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      22895843..23014130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515590.3XP_011513892.1  hyccin isoform X2

      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin
    2. XM_011515589.3XP_011513891.1  hyccin isoform X1

      See identical proteins and their annotated locations for XP_011513891.1

      UniProtKB/Swiss-Prot
      A0A024RA06, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6, Q9BYI3
      UniProtKB/TrEMBL
      A0A7P0T8K2
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      23030828..23150674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359261.1XP_054215236.1  hyccin isoform X2

    2. XM_054359260.1XP_054215235.1  hyccin isoform X1

      UniProtKB/Swiss-Prot
      A0A024RA06, A4D145, B8ZZJ1, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6, Q9BYI3
      UniProtKB/TrEMBL
      A0A7P0T8K2