Aliases for GASK1A Gene

Aliases for GASK1A Gene

  • Golgi Associated Kinase 1A 2 3 5
  • Family With Sequence Similarity 198 Member A 2 3
  • Golgi-Associated Kinase 1A 3 4
  • Protein FAM198A 3 4
  • C3orf41 3 4
  • FAM198A 3 4
  • Family With Sequence Similarity 198, Member A 2
  • Chromosome 3 Open Reading Frame 41 2
  • DKFZP434B172 2
  • GASK1A 5

External Ids for GASK1A Gene

Previous HGNC Symbols for GASK1A Gene

  • C3orf41
  • FAM198A

Summaries for GASK1A Gene

GeneCards Summary for GASK1A Gene

GASK1A (Golgi Associated Kinase 1A) is a Protein Coding gene. Diseases associated with GASK1A include Lipodystrophy, Congenital Generalized, Type 4. An important paralog of this gene is GASK1B.

Additional gene information for GASK1A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GASK1A Gene

Genomics for GASK1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GASK1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J042979 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 334 1.6 ZNF629 ZIC2 PATZ1 GTF2F1 ZNF600 ZNF341 ZFX ZNF561 SCRT2 KLF9 GASK1A piR-51819-016 POMGNT2 ENSG00000273291
GH03J042999 Enhancer 1.1 FANTOM5 Ensembl ENCODE 18.6 +21.6 21638 3.4 GATAD2A FOXA1 RXRB SP1 CEBPA SOX13 ETS1 FOXA2 ATF3 YY1 GASK1A POMGNT2 piR-55762 HSALNG0025460 ENSG00000273291
GH03J043105 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 +126.4 126433 2.2 HNRNPL TEAD4 RFX1 SIX5 ZNF692 BACH1 JUND FOXA1 LARP7 MTA2 POMGNT2 NKTR GASK1A HIGD1A ENSG00000285766 LOC107986079
GH03J043036 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.9 +57.7 57733 0.8 CEBPB RELB IKZF1 NR2F1 CEBPG TBX21 ATF7 MTA2 BHLHE40 ZNF24 ENSG00000232375 GASK1A POMGNT2 piR-39135 ENSG00000273291
GH03J043086 Enhancer 0.8 Ensembl 19.6 +107.4 107434 1 LEF1 JUND PRDM1 PKNOX1 MTA1 SOX6 FOXJ2 EP300 ZNF766 CTBP1 ENSG00000227245 ENSG00000285766 LOC107986079 GASK1A piR-47539 POMGNT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GASK1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GASK1A

Genomic Locations for GASK1A Gene

Genomic Locations for GASK1A Gene
chr3:42,979,267-43,060,211
(GRCh38/hg38)
Size:
80,945 bases
Orientation:
Plus strand
chr3:43,020,759-43,101,703
(GRCh37/hg19)
Size:
80,945 bases
Orientation:
Plus strand

Genomic View for GASK1A Gene

Genes around GASK1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GASK1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GASK1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GASK1A Gene

Proteins for GASK1A Gene

  • Protein details for GASK1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UFP1-GAK1A_HUMAN
    Recommended name:
    Golgi-associated kinase 1A
    Protein Accession:
    Q9UFP1
    Secondary Accessions:
    • B3KR48

    Protein attributes for GASK1A Gene

    Size:
    575 amino acids
    Molecular mass:
    63637 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GASK1A Gene

Post-translational modifications for GASK1A Gene

  • O-glycosylated with core 1 or possibly core 8 glycans.
  • Proteolytically cleaved. Cleaved at Arg-120 and Arg-437 leading to a processed mature product of 35 kDa. The cleavage takes place in the Golgi apparatus.
  • Glycosylation at Thr123, Ser125, Thr188, Thr192, Thr197, and Asn566
  • Modification sites at PhosphoSitePlus

Other Protein References for GASK1A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GASK1A Gene

Domains & Families for GASK1A Gene

Gene Families for GASK1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GASK1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GASK1A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM198A (F198A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UFP1

UniProtKB/Swiss-Prot:

GAK1A_HUMAN :
  • Belongs to the GASK family.
Family:
  • Belongs to the GASK family.
genes like me logo Genes that share domains with GASK1A: view

Function for GASK1A Gene

Phenotypes From GWAS Catalog for GASK1A Gene

Phenotypes for GASK1A Gene

genes like me logo Genes that share phenotypes with GASK1A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GASK1A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GASK1A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GASK1A Gene

Localization for GASK1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GASK1A Gene

Secreted. Endoplasmic reticulum. Golgi apparatus. Membrane, caveola. Note=Requires caveolae biogenesis to be secreted from the endoplasmic reticulum going through the Golgi apparatus where is post-translationally processed to the mature form. {ECO:0000250 UniProtKB:Q3UY90}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GASK1A gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GASK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005901 caveola IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GASK1A: view

Pathways & Interactions for GASK1A Gene

PathCards logo

SuperPathways for GASK1A Gene

No Data Available

Interacting Proteins for GASK1A Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000407301 Q9UFP1-GAK1A_HUMAN for GASK1A Gene via STRING IID

Gene Ontology (GO) - Biological Process for GASK1A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GASK1A Gene

Drugs & Compounds for GASK1A Gene

No Compound Related Data Available

Transcripts for GASK1A Gene

mRNA/cDNA for GASK1A Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GASK1A

Alternative Splicing Database (ASD) splice patterns (SP) for GASK1A Gene

No ASD Table

Relevant External Links for GASK1A Gene

GeneLoc Exon Structure for
GASK1A

Expression for GASK1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GASK1A

SOURCE GeneReport for Unigene cluster for GASK1A Gene:

Hs.729533

mRNA Expression by UniProt/SwissProt for GASK1A Gene:

Q9UFP1-GAK1A_HUMAN
Tissue specificity: Expressed in skin, lung and colon (at protein level).

Evidence on tissue expression from TISSUES for GASK1A Gene

  • Nervous system(4.2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GASK1A Gene

Orthologs for GASK1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for GASK1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM198A 30 31
  • 98.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM198A 30 31
  • 83.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam198a 30
  • 77.72 (n)
Mouse
(Mus musculus)
Mammalia Fam198a 30 31
  • 76.72 (n)
OneToOne
Gask1a 17
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM198A 31
  • 57 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM198A 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM198A 31
  • 48 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM198A 31
  • 56 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CR627484.1 31
  • 38 (a)
OneToOne
Species where no ortholog for GASK1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GASK1A Gene

ENSEMBL:
Gene Tree for GASK1A (if available)
TreeFam:
Gene Tree for GASK1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GASK1A: view image

Paralogs for GASK1A Gene

Paralogs for GASK1A Gene

genes like me logo Genes that share paralogs with GASK1A: view

Variants for GASK1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GASK1A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
789982 Benign: not provided 43,032,879(+) G/C MISSENSE_VARIANT
rs2936817 - p.His227Tyr
rs536119 - p.Gln460Arg

Additional dbSNP identifiers (rs#s) for GASK1A Gene

Structural Variations from Database of Genomic Variants (DGV) for GASK1A Gene

Variant ID Type Subtype PubMed ID
dgv2515n106 CNV deletion 24896259
esv1005787 CNV deletion 20482838
esv1510992 CNV deletion 17803354
esv2200110 CNV deletion 18987734
esv2496441 CNV deletion 19546169
esv2657871 CNV deletion 23128226
esv2725205 CNV deletion 23290073
esv2725206 CNV deletion 23290073
esv2725208 CNV deletion 23290073
esv27501 CNV gain 19812545
esv3313 CNV loss 18987735
esv3561798 CNV deletion 23714750
esv7584 CNV loss 19470904
nsv1074587 CNV deletion 25765185
nsv1110409 CNV duplication 24896259
nsv1147238 CNV duplication 26484159
nsv1153575 CNV deletion 26484159
nsv236200 CNV deletion 16902084
nsv237088 CNV deletion 16902084
nsv460523 CNV loss 19166990
nsv513044 CNV loss 21212237
nsv590149 CNV gain 21841781
nsv590150 CNV loss 21841781
nsv955562 CNV deletion 24416366
nsv979824 CNV duplication 23825009

Variation tolerance for GASK1A Gene

Gene Damage Index Score: 9.10; 87.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GASK1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GASK1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GASK1A Gene

Disorders for GASK1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for GASK1A Gene - From: DISEASES

Disorder Aliases PubMed IDs
lipodystrophy, congenital generalized, type 4
  • cgl4
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with GASK1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GASK1A Gene

Publications for GASK1A Gene

  1. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Genome-wide DNA methylation changes in placenta tissues associated with small for gestational age newborns; cohort study in the Chinese population. (PMID: 31596135) Liu J … Du J (Epigenomics 2019) 3
  4. Fam198a, a member of secreted kinase, secrets through caveolae biogenesis pathway. (PMID: 30188967) Wei Z … Liao K (Acta biochimica et biophysica Sinica 2018) 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for GASK1A Gene

Sources for GASK1A Gene