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

Summary

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: mouse all
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Genomic context

Location:: 18p11.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (5142911..5197691, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (5305184..5359535, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (5142910..5197690, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings suggest that C18orf42 may be a novel PKA signaling gene that serves as an endogenous disruptor peptide for PKA-AKAP interactions.
Title: Hypothetical gene C18orf42 encodes a novel protein kinase A-binding protein.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S943E (e-PCR)
- UniSTS:150535

GDB:313337 (e-PCR)
- UniSTS:52984

RH91766 (e-PCR)
- UniSTS:88061

Homology

Homologs of the AKAIN1 gene: The AKAIN1 gene is conserved in chimpanzee, Rhesus monkey, mouse, and rat.
Orthologs from Annotation Pipeline: 293 organisms have orthologs with human gene AKAIN1
Orthologs

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)

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
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