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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results find that in the male newborns whose mother had preconception folic acid (FA) supplementation, five sites within FAM198A had a reduced methylation than appropriate for gestational age controls.
Title: Genome-wide DNA methylation changes in placenta tissues associated with small for gestational age newborns; cohort study in the Chinese population.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

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

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

SHGC-142613 (e-PCR)
- UniSTS:171550

D3S4357 (e-PCR)
- UniSTS:474105

Potential readthrough

Included genes: ACKR2, ZNF662, KRBOX1

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	ISS Inferred from Sequence or Structural Similarity more info
located_in caveola	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: Golgi-associated kinase 1A

Names: family with sequence similarity 198 member A; protein FAM198A

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.