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

Gene ID: 642597, updated on 5-Mar-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, Apr 2022]
Expression
Biased expression in adrenal (RPKM 1.4), brain (RPKM 0.1) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
18p11.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (5142911..5197691, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (5305184..5359979, complement)
105.20220307 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)

Genotypes

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_2023_10

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

Gene LinkOut

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