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GKAP1 G kinase anchoring protein 1 [ Homo sapiens (human) ]

Gene ID: 80318, updated on 5-Mar-2024

Summary

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Official Symbol
GKAP1provided by HGNC
Official Full Name
G kinase anchoring protein 1provided by HGNC
Primary source
HGNC:HGNC:17496
See related
Ensembl:ENSG00000165113 MIM:611356; AllianceGenome:HGNC:17496
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FKSG21; GKAP42
Summary
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]
Expression
Biased expression in testis (RPKM 88.6) and ovary (RPKM 4.2) See more
Orthologs
mouse all
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Genomic context

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See GKAP1 in Genome Data Viewer
Location:
9q21.32
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83739425..83817769, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (95889113..95967455, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86354340..86432684, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ubiquilin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86321896-86322786 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86322787-86323675 Neighboring gene UBQLN1 antisense RNA 1 Neighboring gene uncharacterized LOC124902191 Neighboring gene MPRA-validated peak7279 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86419564-86420465 Neighboring gene MPRA-validated peak7280 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19978 Neighboring gene uncharacterized LOC101927552 Neighboring gene uncharacterized LOC124900638 Neighboring gene kinesin family member 27 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:86535879-86536628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:86537243-86537747

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. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia. Sweetser DA, et al. Genes Chromosomes Cancer, 2005 Nov. PMID 16015647
  2. Binding and phosphorylation of a novel male germ cell-specific cGMP-dependent protein kinase-anchoring protein by cGMP-dependent protein kinase Ialpha. Yuasa K, et al. J Biol Chem, 2000 Feb 18. PMID 10671526
  3. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. Thalappilly S, et al. Proteomics, 2008 Aug. PMID 18654987
  4. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This paper describes the protein interaction, expression, localization and function of a highly similar gene in mouse.
    Title: Binding and phosphorylation of a novel male germ cell-specific cGMP-dependent protein kinase-anchoring protein by cGMP-dependent protein kinase Ialpha.
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

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

  • FLJ25469

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
G kinase-anchoring protein 1
Names
cGMP-dependent protein kinase anchoring protein 42kDa
cGMP-dependent protein kinase-anchoring protein of 42 kDa
protein kinase anchoring protein GKAP42

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_001135953.2 → NP_001129425.1  G kinase-anchoring protein 1 isoform b

    See identical proteins and their annotated locations for NP_001129425.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AB033132, BC014476, BI459540, DB454445
    Consensus CDS
    CCDS47988.1
    UniProtKB/Swiss-Prot
    Q5VSY0
    Related
    ENSP00000365544.3, ENST00000376365.7
    Conserved Domains (2) summary
    COG1196
    Location:187 → 315
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cl17044
    Location:192 → 223
    DD_cGKI; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I

  2. NM_025211.4 → NP_079487.2  G kinase-anchoring protein 1 isoform a

    See identical proteins and their annotated locations for NP_079487.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC014476, BI459540, DB454445
    Consensus CDS
    CCDS35049.1
    UniProtKB/Swiss-Prot
    Q5VSY0, Q96LI0, Q9BYI1, Q9BYI2, Q9H225
    Related
    ENSP00000365550.2, ENST00000376371.7
    Conserved Domains (1) summary
    COG1196
    Location:217 → 366
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    83739425..83817769 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519058.3 → XP_011517360.1  G kinase-anchoring protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011517360.1

    UniProtKB/Swiss-Prot
    Q5VSY0, Q96LI0, Q9BYI1, Q9BYI2, Q9H225
    Conserved Domains (1) summary
    COG1196
    Location:217 → 366
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. XM_005252241.3 → XP_005252298.1  G kinase-anchoring protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005252298.1

    UniProtKB/Swiss-Prot
    Q5VSY0, Q96LI0, Q9BYI1, Q9BYI2, Q9H225
    Conserved Domains (1) summary
    COG1196
    Location:217 → 366
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  3. XM_017015171.2 → XP_016870660.1  G kinase-anchoring protein 1 isoform X2

    Conserved Domains (1) summary
    TIGR02168
    Location:39 → 225
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    95889113..95967455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363902.1 → XP_054219877.1  G kinase-anchoring protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5VSY0, Q96LI0, Q9BYI1, Q9BYI2, Q9H225

  2. XM_054363901.1 → XP_054219876.1  G kinase-anchoring protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5VSY0, Q96LI0, Q9BYI1, Q9BYI2, Q9H225

  3. XM_054363903.1 → XP_054219878.1  G kinase-anchoring protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VSY0.2 GenPept UniProtKB/Swiss-Prot:Q5VSY0

Gene LinkOut

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