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

    Gene ID: 80318, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83739425..83817769, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (95889113..95967455, complement)
    RS_2024_09 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 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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    NEW Try the new Transcript table

    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_2024_08

    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

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