AKAP1

protein-coding

A-kinase anchoring protein 1, the group of A-kinase anchoring proteins|Tudor domain containing|Protein phosphatase 1 regulatory subunits

Gene summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]

Previous symbols:

PRKA1

MANE transcript

NM_003488.4

Inheritance

—

ClinVar variants

U:128B:25

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr17:57,085,092-57,121,346

External References & Databases

Ensembl (ENSG00000121057)

Transcript & Mutation Effects

hg38 • Region Span ~36.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AKAP1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 128

not providedTotal: 16

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003488.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	4 clinvar	6 clinvar	14
missense			119 clinvar	13 clinvar	2 clinvar	134
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	128	17	8	153

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 91 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003488.4	RefSeq	NP_003479.1	10	MANE Select
ENST00000337714.8	Ensembl	ENSP00000337736.3	10	MANE Select
NM_001242902.2	RefSeq	NP_001229831.1	10	Standard
NM_001242903.2	RefSeq	NP_001229832.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Proton Pump Inhibitor Pathway, Pharmacodynamics
G Protein Signaling Pathways
Factors involved in megakaryocyte development and platelet production
Transport of small molecules
Hemostasis

Biological Process

blood coagulation
regulation of protein kinase A signaling

Molecular Function

RNA binding
protein binding
protein kinase A regulatory subunit binding

Cellular Component

mitochondrion
mitochondrial outer membrane
cytosol
membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337714
Coding exons: 10
Length: 36258
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 25
Defined: 125748
p: 0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.18	440	515	0.854	0.0000299	5844
Missense (PolyPhen)		78	113.1	0.68966		1257
Synonymous	0.233	218	222	0.980	0.0000144	1879
Loss of Function	4.41	7	35.2	0.199	0.00000184	416

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane.;

Recessive Scores

pRec: 0.134

Intolerance Scores

LoFtool: 0.521
RVIS EVS: 0.19
RVIS percentile EVS: 66.27

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.969

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium