AKAP1

Summary

AKAP1 (A-kinase anchoring protein 1, HGNC:367) is a protein-coding gene on chromosome 17q22, encoding A-kinase anchor protein 1, mitochondrial (Q92667). Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane.

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.

Source: NCBI Gene 8165 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 175 total — 5 pathogenic
• MANE Select transcript: NM_003488

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:367
Approved symbol	AKAP1
Name	A-kinase anchoring protein 1
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17
Ensembl gene	ENSG00000121057
Ensembl biotype	protein_coding
OMIM	602449
Entrez	8165

Gene structure

Transcript identifiers

Ensembl transcripts: 47 — 45 protein_coding, 2 nonsense_mediated_decay

ENST00000314126, ENST00000337714, ENST00000481416, ENST00000539273, ENST00000570423, ENST00000571629, ENST00000572156, ENST00000572557, ENST00000572560, ENST00000572814, ENST00000573085, ENST00000573326, ENST00000574683, ENST00000575032, ENST00000575186, ENST00000575322, ENST00000576295, ENST00000576591, ENST00000621116, ENST00000856869, ENST00000856870, ENST00000856871, ENST00000856872, ENST00000856873, ENST00000856874, ENST00000856875, ENST00000856876, ENST00000856877, ENST00000856878, ENST00000856879, ENST00000856880, ENST00000856881, ENST00000856882, ENST00000912420, ENST00000964437, ENST00000964438, ENST00000964439, ENST00000964440, ENST00000964441, ENST00000964442, ENST00000964443, ENST00000964444, ENST00000964445, ENST00000964446, ENST00000964447, ENST00000964448, ENST00000964449

RefSeq mRNA: 8 — MANE Select: NM_003488 NM_001242902, NM_001242903, NM_001370423, NM_001370424, NM_001370425, NM_001370426, NM_001370427, NM_003488

CCDS: CCDS11594

Canonical transcript exons

ENST00000337714 — 11 exons

Exon	Start	End
ENSE00001343471	57120250	57121344
ENSE00001880614	57085246	57085398
ENSE00002192183	57105441	57107178
ENSE00003497675	57116860	57116927
ENSE00003509675	57118381	57118454
ENSE00003553074	57111798	57111924
ENSE00003605284	57116111	57116261
ENSE00003625581	57112491	57112618
ENSE00003640629	57114459	57114636
ENSE00003658296	57110025	57110158
ENSE00003683986	57118982	57119044

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1061 / max 354.1017, expressed in 1783 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161827	8.6340	1693
161828	6.3425	1431
161832	0.8990	466
161829	0.5503	278
161834	0.2785	7
161836	0.1280	44
161833	0.1063	5
161830	0.0789	27
161831	0.0775	28
161835	0.0110	4

Top tissues by expression

298 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.02	gold quality
sperm	CL:0000019	98.97	gold quality
body of tongue	UBERON:0011876	98.79	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.59	gold quality
left testis	UBERON:0004533	98.19	gold quality
male germ cell	CL:0000015	98.15	gold quality
diaphragm	UBERON:0001103	97.99	gold quality
right testis	UBERON:0004534	97.93	gold quality
oocyte	CL:0000023	97.90	gold quality
cardia of stomach	UBERON:0001162	97.80	gold quality
saphenous vein	UBERON:0007318	97.71	gold quality
vena cava	UBERON:0004087	97.70	gold quality
skeletal muscle tissue	UBERON:0001134	97.61	gold quality
biceps brachii	UBERON:0001507	97.54	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.53	gold quality
vastus lateralis	UBERON:0001379	97.52	gold quality
renal medulla	UBERON:0000362	97.41	gold quality
quadriceps femoris	UBERON:0001377	97.38	gold quality
left ventricle myocardium	UBERON:0006566	97.29	gold quality
mucosa of stomach	UBERON:0001199	97.27	gold quality
pylorus	UBERON:0001166	97.24	gold quality
triceps brachii	UBERON:0001509	97.18	gold quality
nipple	UBERON:0002030	97.06	gold quality
popliteal artery	UBERON:0002250	96.98	gold quality
tibial artery	UBERON:0007610	96.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.97	gold quality
deltoid	UBERON:0001476	96.95	gold quality
muscle tissue	UBERON:0002385	96.94	gold quality
pharyngeal mucosa	UBERON:0000355	96.91	gold quality
tongue	UBERON:0001723	96.86	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

102 targeting AKAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836

Literature-anchored findings (GeneRIF, showing 21)

• AMY-1 interacts with this and AKAP95 in the cytoplasm and the nucleus, respectively, and inhibits cAMP-dependent protein kinase activity by preventing binding of its catalytic subunit to A-kinase-anchoring protein (AKAP) complex. (PMID:12414807)
• RIalpha and RIbeta homodimers as well as an RIalpha:RIbeta heterodimer and several of the mutants were able to bind to the R-binding domain of AKAP149/D-AKAP1 (PMID:12634056)
• AKAP149-regulated PP1 activity at the NE during G1 is required to maintain nuclear integrity and cell survival. (PMID:12697839)
• DAKAP1alpha overexpression induced regulatory (R) or catalytic (C) subunits of PKA to outer mitochondrial colocalization and showed similar regulation (PMID:17884635)
• both the constitutive and cAMP-induced release of TNFR1 exosome-like vesicles occur via PKA-dependent pathways that are regulated by the anchoring of RIIbeta to BIG2 via AKAP domains B and C (PMID:18625701)
• Results suggest that the interaction between reverse transcriptase and AKAP149 in infected cells may play an important role in HIV-1 reverse transcription. (PMID:18786546)
• Protein phosphatase 1 binding occurs through a conserved RVXF motif found in the KH domain of AKAP149. (PMID:19074462)
• In tumoural lymphocytes, yessotoxin decreases AKAP149 cytosolic expression and increases cAMP levels which leads to cell death. (PMID:22807343)
• Shp2 is a component of the AKAP-Lbc complex and is inhibited by protein kinase A under pathological hypertrophic conditions in the heart. (PMID:23045525)
• AKAP1 anchors Star mRNA at the mitochondria, thus stabilizing the translational complex at this organelle, a situation that might affect STAR production and steroidogenesis. (PMID:23077346)
• In the case of the beta2AR, this process is facilitated by the presence of A-Kinase Anchoring Proteins (AKAPs) that serve as scaffolding proteins for the L-type calcium channel and the beta2AR complex. (PMID:23557075)
• AKAP 149-PKA-PDE4A complex localization is related with YTX effect in K-562 cell line (PMID:24813785)
• Functional characterization revealed an undescribed role for AMPK-dependent phosphorylation of AKAP1 in mitochondrial respiration. (PMID:26437602)
• Furthermore, we discuss the role of hypoxia in prompting cellular stress and damage, which has been demonstrated to mediate the proteosomal degradation of AKAP121, leading to an increase in reactive oxgyen species production, mitochondrial dysfunction, and ultimately cell death. [review] (PMID:26825124)
• AKAP1 is a transcriptional target of Myc, and it supports mTOR pathway and the growth of cancer cells. (PMID:28569781)
• depletion of dAKAP1-PKA “signaling islands” from the outer mitochondrial membrane augments progression toward metastatic breast cancer (PMID:30598507)
• A-kinase-anchoring protein 1 (dAKAP1)-based signaling complexes coordinate local protein synthesis at the mitochondrial surface. (PMID:32482893)
• Induction of UCP1 and thermogenesis by a small molecule via AKAP1/PKA modulation. (PMID:32855239)
• AKAP1 Regulates Mitochondrial Dynamics during the Fatty-Acid-Promoted Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Indicated by Proteomics Sequencing. (PMID:37175819)
• Role of A-Kinase Anchoring Protein 1 in Retinal Ganglion Cells: Neurodegeneration and Neuroprotection. (PMID:37296658)
• AKAP1 in Renal Patients with AHF to Reduce Ferroptosis of Cardiomyocyte. (PMID:38286648)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	akap1b	ENSDARG00000006062
danio_rerio	akap1a	ENSDARG00000089802
mus_musculus	Akap1	ENSMUSG00000018428
rattus_norvegicus	Akap1	ENSRNOG00000002373
drosophila_melanogaster	spoon	FBGN0263987
caenorhabditis_elegans		WBGENE00016977

Protein

Protein identifiers

A-kinase anchor protein 1, mitochondrial — Q92667 (reviewed: Q92667)

Alternative names: A-kinase anchor protein 149 kDa, Dual specificity A-kinase-anchoring protein 1, Protein kinase A-anchoring protein 1, Spermatid A-kinase anchor protein 84

All UniProt accessions (13): A0A0G2JLF7, A0A140VK05, I3L0K6, I3L0V5, I3L0W0, I3L2A2, I3L2N7, I3L364, I3L3K1, I3L3L9, I3L3V6, I3NI36, Q92667

UniProt curated annotations — full annotation on UniProt →

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. Involved in mitochondrial-mediated antiviral innate immunity. Promotes translocation of NDUFS1 into mitochondria to regulate mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) activity.

Subunit / interactions. Interacts with SLC8A3. Interacts with CFAP91. Interacts with CLPB. Interacts with NDUFS1.

Subcellular location. Mitochondrion outer membrane. Mitochondrion.

Tissue specificity. Isoform 1 is detected in thymus, prostate, testis, ovary, colon and small intestine. Isoform 2 is highly expressed in testis and detected at much lower levels in kidney, pancreas, liver, lung and brain.

Domain organisation. RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92667-1	1, AKAP149	yes
Q92667-2	2, S-AKAP84

RefSeq proteins (8): NP_001229831, NP_001229832, NP_001357352, NP_001357353, NP_001357354, NP_001357355, NP_001357356, NP_003479* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002999	Tudor	Domain
IPR004087	KH_dom	Domain
IPR004088	KH_dom_type_1	Domain
IPR035437	SNase_OB-fold_sf	Homologous_superfamily
IPR036612	KH_dom_type_1_sf	Homologous_superfamily
IPR047367	Tudor_AKAP1	Domain
IPR047368	KH-I_AKAP1	Domain
IPR050621	Tudor_domain_containing	Family

Pfam: PF00013, PF00567

UniProt features (35 total): modified residue 12, compositionally biased region 6, region of interest 6, sequence variant 4, domain 2, splice variant 2, transit peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92667-F1	57.02	0.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (12): 70, 105, 107, 151, 169, 429, 445, 447, 533, 573, 590, 592

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8949215	Mitochondrial calcium ion transport
R-HSA-983231	Factors involved in megakaryocyte development and platelet production
R-HSA-109582	Hemostasis
R-HSA-382551	Transport of small molecules

MSigDB gene sets: 0 (showing top):

GO Biological Process (2): apoptotic process (GO:0006915), antiviral innate immune response (GO:0140374)

GO Molecular Function (4): RNA binding (GO:0003723), protein kinase A regulatory subunit binding (GO:0034237), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Transport of small molecules	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
cytoplasm	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
innate immune response	1
defense response to virus	1
nucleic acid binding	1
protein kinase A binding	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1538 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKAP1	PRKACA	P17612	998
AKAP1	PRKACB	P22694	998
AKAP1	PRKACG	P22612	998
AKAP1	PDE4A	P27815	973
AKAP1	RAPGEF3	O95398	957
AKAP1	AKAP6	Q13023	931
AKAP1	AKAP5	P24588	931
AKAP1	AKAP7	O43687	924
AKAP1	AKAP13	Q12802	921
AKAP1	AKAP12	Q02952	915
AKAP1	AKAP8	O43823	900
AKAP1	ALDH7A1	P49419	895
AKAP1	PDE4D	Q08499	892
AKAP1	MYCBP	Q99417	891
AKAP1	PRKAR2B	P31323	884

IntAct

104 interactions, top by confidence:

A	B	Type	Score
AKAP1	PRKAR2A	psi-mi:“MI:0915”(physical association)	0.810
PRKAR2A	AKAP1	psi-mi:“MI:0915”(physical association)	0.810
PRKACB	PRKAR1A	psi-mi:“MI:0914”(association)	0.790
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
PRKACA	VAPB	psi-mi:“MI:0914”(association)	0.730
	PRKAR1A	psi-mi:“MI:0914”(association)	0.700
Siah2	Akap1	psi-mi:“MI:0914”(association)	0.660
Siah2	Akap1	psi-mi:“MI:0403”(colocalization)	0.660
PRSS37	MANBA	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
ZFP41	LRP4	psi-mi:“MI:0914”(association)	0.530
PRKACG	UBB	psi-mi:“MI:0914”(association)	0.530
PRKAR2B	AMY1A	psi-mi:“MI:0914”(association)	0.530
PRKACB	VAPB	psi-mi:“MI:0914”(association)	0.530
SCRIB	AKAP1	psi-mi:“MI:0407”(direct interaction)	0.440
AIFM1	HAX1	psi-mi:“MI:2364”(proximity)	0.420
AKAP1	KTN1	psi-mi:“MI:0915”(physical association)	0.400
AKAP1	PB2	psi-mi:“MI:0915”(physical association)	0.370
MYCBP	AKAP1	psi-mi:“MI:0915”(physical association)	0.370
AKAP1	MYCBP	psi-mi:“MI:0915”(physical association)	0.370
PRKAR1A	AKAP1	psi-mi:“MI:0915”(physical association)	0.370
AKAP1		psi-mi:“MI:0915”(physical association)	0.370
Rprd1b	POLR2B	psi-mi:“MI:0914”(association)	0.350
AKAP1	TNNI3	psi-mi:“MI:0914”(association)	0.350
Prkacb	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Prkar2a	TBC1D31	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (637): AKAP1 (Affinity Capture-MS), AKAP1 (Affinity Capture-MS), AKAP1 (Affinity Capture-MS), AKAP1 (Affinity Capture-MS), AKAP1 (Two-hybrid), AKAP1 (Proximity Label-MS), AKAP1 (Proximity Label-MS), PHB (Affinity Capture-MS), PRKAR2A (Affinity Capture-MS), RPL12 (Affinity Capture-MS), TNNI3 (Affinity Capture-MS), CKAP5 (Affinity Capture-MS), FARP1 (Affinity Capture-MS), PHB2 (Affinity Capture-MS), WIBG (Affinity Capture-MS)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A2AGX3, A2AKB4, A7YWH3, A8MVX0, C9JSJ3, O08715, O88286, O88884, P24278, P97303, P97432, Q17RG1, Q1XFL1, Q3KNY0, Q3USH1, Q495C1, Q4V7B1, Q501R9, Q562E2, Q5SYB0, Q5VT97, Q5XIN1, Q6P2K3, Q6PCP7, Q6ZSG2, Q7TSX9, Q80SU3, Q80TL0, Q80W88, Q80XI1, Q8BLK9, Q8BSV3, Q8BW86, Q8K3E9, Q8K451, Q8N7W2, Q8NE31, Q8NFN8

Diamond homologs: O08715, O88884, Q09285, Q80VL1, Q92667, Q9Y2W6, A4SG26, A6VCJ6, A9CPT4, B3EH06, B4SDX4, D2H3M0, E1BPH3, E1C3S7, E2QTD3, E7FDW8, F1R237, F4KDN0, H9JD76, O19048, O19049, P34307, P38151, P57721, P57722, P60335, P61978, P61979, P61980, P91277, Q00341, Q15365, Q15366, Q1XG89, Q2PFW9, Q3B2E2, Q3T0D0, Q4FNM6, Q4R3G4, Q4R4M6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SIAH2	“down-regulates quantity by destabilization”	AKAP1	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
PKA activation in glucagon signalling	6	50.4×	3e-07
PKA activation	6	47.6×	3e-07
PKA-mediated phosphorylation of CREB	6	42.8×	5e-07
DARPP-32 events	6	35.7×	1e-06
Anti-inflammatory response favouring Leishmania parasite infection	6	29.5×	3e-06
Leishmania parasite growth and survival	6	29.5×	3e-06
Calmodulin induced events	6	28.6×	3e-06
CaM pathway	6	28.6×	3e-06

GO biological processes:

GO term	Partners	Fold	FDR
vascular endothelial cell response to laminar fluid shear stress	6	39.2×	5e-06
renal water homeostasis	6	27.4×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

175 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	117
Likely benign	16
Benign	12

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	Pathogenic
3243161	NC_000017.10:g.(?54671585)(55927371_?)del	Pathogenic
394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	Pathogenic
564455	GRCh37/hg19 17q22(chr17:54584318-55220914)x1	Pathogenic
59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	Pathogenic

SpliceAI

2201 predictions. Top by Δscore:

Variant	Effect	Δscore
17:57110158:GG:G	donor_loss	1.0000
17:57110160:T:G	donor_loss	1.0000
17:57111784:T:TA	acceptor_gain	1.0000
17:57111792:T:TA	acceptor_gain	1.0000
17:57111793:G:A	acceptor_gain	1.0000
17:57111796:A:AC	acceptor_loss	1.0000
17:57111796:A:AG	acceptor_gain	1.0000
17:57111797:G:GC	acceptor_gain	1.0000
17:57111797:GC:G	acceptor_gain	1.0000
17:57111797:GCAC:G	acceptor_gain	1.0000
17:57111799:A:AG	acceptor_gain	1.0000
17:57111800:C:G	acceptor_gain	1.0000
17:57111921:GAAG:G	donor_gain	1.0000
17:57111923:AGGT:A	donor_loss	1.0000
17:57111925:G:GA	donor_loss	1.0000
17:57111925:G:GG	donor_gain	1.0000
17:57112481:C:CA	acceptor_gain	1.0000
17:57112486:TTTA:T	acceptor_loss	1.0000
17:57112489:AGGCT:A	acceptor_loss	1.0000
17:57112490:G:A	acceptor_loss	1.0000
17:57112617:GG:G	donor_gain	1.0000
17:57112618:GG:G	donor_gain	1.0000
17:57114454:TACA:T	acceptor_loss	1.0000
17:57114455:A:AG	acceptor_gain	1.0000
17:57114456:C:G	acceptor_gain	1.0000
17:57114457:A:AG	acceptor_gain	1.0000
17:57114457:AGCT:A	acceptor_loss	1.0000
17:57114458:G:A	acceptor_loss	1.0000
17:57114458:G:GA	acceptor_gain	1.0000
17:57114458:GC:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000002807 (17:57093214 C>G), RS1000043703 (17:57118523 C>A), RS1000159539 (17:57118516 A>G), RS1000258104 (17:57092611 C>A), RS1000266258 (17:57084150 T>C), RS1000551215 (17:57086656 G>C), RS1000605625 (17:57094533 A>T), RS1000677607 (17:57097027 A>C), RS1000726362 (17:57103744 T>G), RS1000923572 (17:57091399 C>T), RS1000953008 (17:57109645 C>T), RS1001145344 (17:57094836 G>A,C), RS1001148975 (17:57086798 T>TG), RS1001194406 (17:57097281 T>G), RS1001305938 (17:57119308 A>G)

Disease associations

OMIM: gene MIM:602449 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003043_202	Inflammatory bowel disease	7.000000e-06
GCST003044_42	Crohn’s disease	1.000000e-09
GCST003983_20	Male-pattern baldness	2.000000e-12
GCST006091_7	Freckles	2.000000e-09
GCST006988_90	Blond vs. brown/black hair color	2.000000e-19

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003963	freckles
EFO:0003924	hair color

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

57 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects expression, affects binding, increases expression, decreases reaction, decreases expression	5
Valproic Acid	affects expression, decreases expression, increases expression	5
Acetaminophen	increases expression, decreases expression	3
entinostat	affects cotreatment, increases expression	2
Vehicle Emissions	increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Raloxifene Hydrochloride	affects expression, affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
uranyl acetate	affects expression	1
bisphenol A	decreases expression	1
trichostatin A	decreases expression	1
beta-lapachone	increases expression	1
arsenite	decreases reaction, increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	increases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
abrine	decreases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Fulvestrant	decreases reaction, increases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2RD	Abcam HEK293T AKAP1 KO	Transformed cell line	Female
CVCL_SC03	HAP1 AKAP1 (-) 1	Cancer cell line	Male
CVCL_SC04	HAP1 AKAP1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer