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    GASK1A golgi associated kinase 1A [ Homo sapiens (human) ]

    Gene ID: 729085, updated on 10-Dec-2024

    Summary

    Official Symbol
    GASK1Aprovided by HGNC
    Official Full Name
    golgi associated kinase 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:24485
    See related
    Ensembl:ENSG00000144649 MIM:620413; AllianceGenome:HGNC:24485
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf41; FAM198A
    Summary
    Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Note: LOC26172 (GeneID: 26172) was previously annotated as C3orf41, and a chimeric/readthrough mRNA that contained part of this gene, GeneID: 729085 and GeneID: 26172 was associated with the locus. The two genes are now represented by separate entries, LOC26172 (GeneID: 26172) and C3orf41 (GeneID: 729085). [13 Feb 2013]
    Expression
    Broad expression in gall bladder (RPKM 4.2), endometrium (RPKM 3.5) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GASK1A in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42979311..43057715)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42994952..43073043)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43020803..43099207)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 662 Neighboring gene KRBOX1 antisense RNA 1 Neighboring gene KRAB box domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025326-43025826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025827-43026327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43104067-43104586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121119-43121620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121621-43122120 Neighboring gene uncharacterized LOC107986079 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43138968-43139468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43139469-43139969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14253 Neighboring gene uncharacterized LOC105377051

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (4 hits/1239 screens)

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ33682, DKFZp434B172

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in caveola  
    located_in endoplasmic reticulum  
    located_in extracellular region  
    located_in intracellular membrane-bounded organelle  

    General protein information

    Preferred Names
    Golgi-associated kinase 1A
    Names
    family with sequence similarity 198 member A
    protein FAM198A

    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.

    mRNA and Protein(s)

    1. NM_001129908.3NP_001123380.2  Golgi-associated kinase 1A precursor

      See identical proteins and their annotated locations for NP_001123380.2

      Status: VALIDATED

      Source sequence(s)
      AC092042, AL117530, BQ006782, DA262563
      Consensus CDS
      CCDS46808.1
      UniProtKB/Swiss-Prot
      B3KR48, Q9UFP1
      UniProtKB/TrEMBL
      A0A8I5KS87
      Related
      ENSP00000407301.2, ENST00000430121.3
      Conserved Domains (1) summary
      pfam15051
      Location:253572
      FAM198; FAM198 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      42979311..43057715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      42994952..43073043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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