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

Gene ID: 51313, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in adrenal (RPKM 128.3), ovary (RPKM 68.9) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
4q32.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (158124474..158173025, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (161476702..161525241, complement)
105.20220307 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23966, FLJ38155, DKFZp434L142

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_2023_10

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

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