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    AKAIN1 A-kinase anchor inhibitor 1 [ Homo sapiens (human) ]

    Gene ID: 642597, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AKAIN1provided by HGNC
    Official Full Name
    A-kinase anchor inhibitor 1provided by HGNC
    Primary source
    HGNC:HGNC:28285
    See related
    Ensembl:ENSG00000231824 MIM:616427; AllianceGenome:HGNC:28285
    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
    C18orf42
    Summary
    Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in adrenal (RPKM 1.4), brain (RPKM 0.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See AKAIN1 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (5142911..5197691, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (5305184..5359979, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (5142910..5197690, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1892 Neighboring gene NANOG hESC enhancer GRCh37_chr18:5097103-5097620 Neighboring gene biorientation of chromosomes in cell division 1 pseudogene 2 Neighboring gene uncharacterized LOC124904341 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:5214004-5215203 Neighboring gene long intergenic non-protein coding RNA 526

    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. Hypothetical gene C18orf42 encodes a novel protein kinase A-binding protein. Fukuda M, et al. Genes Cells, 2015 Apr. PMID 25653177
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    A-kinase anchor protein inhibitor 1
    Names
    A kinase (PRKA) anchor inhibitor 1
    A-kinase anchor protein C18orf42

    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_001145194.2 → NP_001138666.1  A-kinase anchor protein inhibitor 1 isoform 1

      See identical proteins and their annotated locations for NP_001138666.1

      Status: VALIDATED

      Source sequence(s)
      AP001496, AP005380
      Consensus CDS
      CCDS54179.1
      UniProtKB/Swiss-Prot
      P0CW23
      Related
      ENSP00000399075.3, ENST00000434239.4
      Conserved Domains (1) summary
      pfam10470
      Location:12 → 44
      AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein

    2. NM_001330553.2 → NP_001317482.1  A-kinase anchor protein inhibitor 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AI681285, AP001496, AP005380, EL953233, HY128307
      Consensus CDS
      CCDS82235.1
      UniProtKB/TrEMBL
      J3KS16
      Related
      ENSP00000462259.1, ENST00000580650.1
      Conserved Domains (1) summary
      pfam10470
      Location:19 → 51
      AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      5142911..5197691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      5305184..5359979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CW23.1 GenPept UniProtKB/Swiss-Prot:P0CW23

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