This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found fo... See more...

Aliases for GKAP1 Gene

Aliases for GKAP1 Gene

  • G Kinase Anchoring Protein 1 2 3 5
  • CGMP-Dependent Protein Kinase-Anchoring Protein Of 42 KDa 3 4
  • CGMP-Dependent Protein Kinase Anchoring Protein 42kDa 2 3
  • G Kinase-Anchoring Protein 1 3 4
  • GKAP42 3 4
  • Protein Kinase Anchoring Protein GKAP42 3
  • FKSG21 3

External Ids for GKAP1 Gene

Previous GeneCards Identifiers for GKAP1 Gene

  • GC09M081812
  • GC09M083583
  • GC09M085544
  • GC09M086354
  • GC09M056179

Summaries for GKAP1 Gene

Entrez Gene Summary for GKAP1 Gene

  • This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for GKAP1 Gene

GKAP1 (G Kinase Anchoring Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include kinase activity.

UniProtKB/Swiss-Prot Summary for GKAP1 Gene

  • Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involved in TNF-induced impairment of insulin-dependent IRS1 tyrosine phosphorylation.

Additional gene information for GKAP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GKAP1 Gene

Genomics for GKAP1 Gene

GeneHancer (GH) Regulatory Elements for GKAP1 Gene

Promoters and enhancers for GKAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GKAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GKAP1 gene promoter:
  • Cart-1
  • CUTL1
  • MIF-1
  • MyoD
  • Pax-3
  • Pax-6
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for GKAP1 Gene

Genomic Locations for GKAP1 Gene
chr9:83,739,421-83,829,516
(GRCh38/hg38)
Size:
90,096 bases
Orientation:
Minus strand
chr9:86,354,336-86,444,431
(GRCh37/hg19)
Size:
90,096 bases
Orientation:
Minus strand

Genomic View for GKAP1 Gene

Genes around GKAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GKAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GKAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GKAP1 Gene

Proteins for GKAP1 Gene

  • Protein details for GKAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VSY0-GKAP1_HUMAN
    Recommended name:
    G kinase-anchoring protein 1
    Protein Accession:
    Q5VSY0
    Secondary Accessions:
    • Q96LI0
    • Q9BYI1
    • Q9BYI2
    • Q9H225

    Protein attributes for GKAP1 Gene

    Size:
    366 amino acids
    Molecular mass:
    42078 Da
    Quaternary structure:
    • Interacts with PRKG1 and IRS1.
    SequenceCaution:
    • Sequence=BAB71712.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW62665.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for GKAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GKAP1 Gene

Post-translational modifications for GKAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GKAP1 Gene

Domains & Families for GKAP1 Gene

Gene Families for GKAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GKAP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GKAP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59269, highly similar to Homo sapiens G kinase anchoring protein 1 (GKAP1), mRNA (B4DXS0_HUMAN)
  • cGMP-dependent protein kinase-anchoring protein of 42 kDa (GKAP1_HUMAN)
  • G kinase anchoring protein 1 (Q5VSY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VSY0

UniProtKB/Swiss-Prot:

GKAP1_HUMAN :
  • Belongs to the GKAP1 family.
Family:
  • Belongs to the GKAP1 family.
genes like me logo Genes that share domains with GKAP1: view

Function for GKAP1 Gene

Molecular function for GKAP1 Gene

UniProtKB/Swiss-Prot Function:
Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involved in TNF-induced impairment of insulin-dependent IRS1 tyrosine phosphorylation.

Phenotypes From GWAS Catalog for GKAP1 Gene

Gene Ontology (GO) - Molecular Function for GKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016301 kinase activity IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with GKAP1: view
genes like me logo Genes that share phenotypes with GKAP1: view

Animal Model Products

CRISPR Products

miRNA for GKAP1 Gene

miRTarBase miRNAs that target GKAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GKAP1 Gene

Localization for GKAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GKAP1 Gene

Golgi apparatus.

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 GKAP1 gene
Compartment Confidence
golgi apparatus 4
nucleus 3
cytoskeleton 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,ISS --
genes like me logo Genes that share ontologies with GKAP1: view

Pathways & Interactions for GKAP1 Gene

PathCards logo

SuperPathways for GKAP1 Gene

No Data Available

SIGNOR curated interactions for GKAP1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for GKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction ISS,IEA --
GO:0016310 phosphorylation IEA --
GO:0046628 positive regulation of insulin receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with GKAP1: view

No data available for Pathways by source for GKAP1 Gene

Drugs & Compounds for GKAP1 Gene

No Compound Related Data Available

Transcripts for GKAP1 Gene

mRNA/cDNA for GKAP1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GKAP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - - -
SP2:
SP3: -
SP4: - -
SP5: -
SP6:
SP7:

Relevant External Links for GKAP1 Gene

GeneLoc Exon Structure for
GKAP1
ECgene alternative splicing isoforms for
GKAP1

Expression for GKAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GKAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GKAP1 Gene

This gene is overexpressed in Testis (x11.9).

Protein differential expression in normal tissues from HIPED for GKAP1 Gene

This gene is overexpressed in Testis (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GKAP1 Gene



Protein tissue co-expression partners for GKAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GKAP1 Gene:

GKAP1

SOURCE GeneReport for Unigene cluster for GKAP1 Gene:

Hs.522255

Evidence on tissue expression from TISSUES for GKAP1 Gene

  • Skin(4.1)
  • Gall bladder(3.5)
  • Intestine(3)
  • Liver(2.9)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with GKAP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GKAP1 Gene

Orthologs for GKAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GKAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GKAP1 33 32
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GKAP1 33 32
  • 94.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GKAP1 33 32
  • 93.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gkap1 32
  • 85.7 (n)
mouse
(Mus musculus)
Mammalia Gkap1 17 33 32
  • 85.34 (n)
oppossum
(Monodelphis domestica)
Mammalia GKAP1 33
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GKAP1 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GKAP1 33 32
  • 78.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GKAP1 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gkap1 32
  • 68.99 (n)
Str.10774 32
African clawed frog
(Xenopus laevis)
Amphibia gkap42-pending-prov 32
zebrafish
(Danio rerio)
Actinopterygii gkap1 33 32
  • 63.76 (n)
OneToOne
wufi16a08 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10015 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 33 (a)
OneToOne
Species where no ortholog for GKAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GKAP1 Gene

ENSEMBL:
Gene Tree for GKAP1 (if available)
TreeFam:
Gene Tree for GKAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GKAP1: view image

Paralogs for GKAP1 Gene

No data available for Paralogs for GKAP1 Gene

Variants for GKAP1 Gene

Sequence variations from dbSNP and Humsavar for GKAP1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000001796 -- 83,818,111(-) C/T upstream_transcript_variant
rs1000019476 -- 83,793,571(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000019521 -- 83,791,912(-) G/C intron_variant
rs1000110095 -- 83,812,978(-) TTTTTTTTT/TTTTTTTT/TTTTTTTTTT genic_upstream_transcript_variant, intron_variant
rs1000131124 -- 83,755,248(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GKAP1 Gene

Variant ID Type Subtype PubMed ID
esv2672912 CNV deletion 23128226
esv2738668 CNV deletion 23290073
esv2759701 CNV gain 17122850
esv2761538 CNV gain 21179565
esv3620904 CNV gain 21293372
esv3620905 CNV loss 21293372
esv7015 CNV loss 19470904
nsv1137473 CNV deletion 24896259
nsv469859 CNV gain 16826518
nsv982312 CNV duplication 23825009

Variation tolerance for GKAP1 Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GKAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GKAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GKAP1 Gene

Disorders for GKAP1 Gene

Additional Disease Information for GKAP1

No disorders were found for GKAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GKAP1 Gene

Publications for GKAP1 Gene

  1. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia. (PMID: 16015647) Sweetser DA … Daly SB (Genes, chromosomes & cancer 2005) 3 4 56
  2. Binding and phosphorylation of a novel male germ cell-specific cGMP-dependent protein kinase-anchoring protein by cGMP-dependent protein kinase Ialpha. (PMID: 10671526) Yuasa K … Yanaka N (The Journal of biological chemistry 2000) 3 4 56
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 56
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 56
  5. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 56

Products for GKAP1 Gene

Sources for GKAP1 Gene