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    GASK1B golgi associated kinase 1B [ Homo sapiens (human) ]

    Gene ID: 51313, updated on 26-Nov-2024

    Summary

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    Official Symbol
    GASK1Bprovided by HGNC
    Official Full Name
    golgi associated kinase 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:25312
    See related
    Ensembl:ENSG00000164125 AllianceGenome:HGNC:25312
    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
    ENED; AD021; AD036; C4orf18; FAM198B
    Summary
    Located in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in adrenal (RPKM 128.3), ovary (RPKM 68.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GASK1B in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (158124474..158173025, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (161476702..161525241, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (159045626..159094177, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377509 Neighboring gene GATA motif-containing MPRA enhancer 19 Neighboring gene ribosomal protein L6 pseudogene 11 Neighboring gene uncharacterized LOC124900801 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:158936869-158937025 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:158965685-158966884 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:159015278-159016477 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159091660-159092180 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:159092354-159093553 Neighboring gene uncharacterized LOC101928007 Neighboring gene GASK1B antisense RNA 1 Neighboring gene NUDT19 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. FAM198B Is Associated with Prolonged Survival and Inhibits Metastasis in Lung Adenocarcinoma via Blockage of ERK-Mediated MMP-1 Expression. Hsu CY, et al. Clin Cancer Res, 2018 Feb 15. PMID 29217529
    2. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Golgi-associated kinase 1B
    Names
    expressed in nerve and epithelium during development
    family with sequence similarity 198 member B
    protein FAM198B

    NCBI Reference Sequences (RefSeq)

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    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_001031700.3 → NP_001026870.2  Golgi-associated kinase 1B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC098679, BC017701, BC043193, DA887770
      Consensus CDS
      CCDS34087.1
      UniProtKB/Swiss-Prot
      Q6UWH4
      UniProtKB/TrEMBL
      Q9NYZ0
      Related
      ENSP00000377396.4, ENST00000393807.9
      Conserved Domains (1) summary
      pfam15051
      Location:203 → 526
      FAM198; FAM198 protein

    2. NM_001128424.2 → NP_001121896.1  Golgi-associated kinase 1B isoform 2

      See identical proteins and their annotated locations for NP_001121896.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AC098679, AY358785, BC017701, BC043193, DA887770
      Consensus CDS
      CCDS3798.1
      UniProtKB/Swiss-Prot
      Q498Z3, Q6IAF9, Q6UWH4, Q6ZMF2, Q86XL0
      Related
      ENSP00000465976.1, ENST00000585682.6
      Conserved Domains (1) summary
      pfam15051
      Location:203 → 518
      FAM198; FAM198 protein

    3. NM_016613.7 → NP_057697.2  Golgi-associated kinase 1B isoform 2

      See identical proteins and their annotated locations for NP_057697.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AC098679, AY358785, BC017701, BX489659, DA887770
      Consensus CDS
      CCDS3798.1
      UniProtKB/Swiss-Prot
      Q498Z3, Q6IAF9, Q6UWH4, Q6ZMF2, Q86XL0
      Related
      ENSP00000296530.7, ENST00000296530.12
      Conserved Domains (1) summary
      pfam15051
      Location:203 → 518
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      158124474..158173025 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454079.2 → XP_024309847.1  Golgi-associated kinase 1B isoform X1

      UniProtKB/Swiss-Prot
      Q498Z3, Q6IAF9, Q6UWH4, Q6ZMF2, Q86XL0
      Conserved Domains (1) summary
      pfam15051
      Location:203 → 518
      FAM198; FAM198 protein

    2. XM_047415765.1 → XP_047271721.1  Golgi-associated kinase 1B isoform X2

    3. XM_024454078.2 → XP_024309846.1  Golgi-associated kinase 1B isoform X1

      UniProtKB/Swiss-Prot
      Q498Z3, Q6IAF9, Q6UWH4, Q6ZMF2, Q86XL0
      Conserved Domains (1) summary
      pfam15051
      Location:203 → 518
      FAM198; FAM198 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      161476702..161525241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWH4.1 GenPept UniProtKB/Swiss-Prot:Q6UWH4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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