RIIAD1

Summary

RIIAD1 (regulatory subunit of type II PKA R-subunit domain containing 1, HGNC:26686) is a protein-coding gene on chromosome 1q21.3, encoding RIIa domain-containing protein 1 (A6NNX1).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001144956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26686
Approved symbol	RIIAD1
Name	regulatory subunit of type II PKA R-subunit domain containing 1
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36032
Ensembl gene	ENSG00000178796
Ensembl biotype	protein_coding
Entrez	284485

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000326413, ENST00000426175, ENST00000427205, ENST00000451222, ENST00000451484, ENST00000479191

RefSeq mRNA: 1 — MANE Select: NM_001144956 NM_001144956

CCDS: CCDS53368

Canonical transcript exons

ENST00000479191 — 5 exons

Exon	Start	End
ENSE00001704762	151721522	151721620
ENSE00001747416	151729488	151729805
ENSE00003501869	151728766	151728893
ENSE00003590061	151722086	151722162
ENSE00003670168	151727575	151727621

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 98.94.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8435 / max 95.3391, expressed in 212 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5241	0.7312	193
5244	0.1123	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	98.94	gold quality
secondary oocyte	CL:0000655	96.75	gold quality
bronchial epithelial cell	CL:0002328	95.89	gold quality
bronchus	UBERON:0002185	94.54	gold quality
right uterine tube	UBERON:0001302	93.52	gold quality
pituitary gland	UBERON:0000007	92.70	gold quality
sperm	CL:0000019	91.45	gold quality
adenohypophysis	UBERON:0002196	91.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.48	gold quality
oviduct epithelium	UBERON:0004804	88.10	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.82	gold quality
nucleus accumbens	UBERON:0001882	86.34	gold quality
amygdala	UBERON:0001876	85.66	gold quality
endothelial cell	CL:0000115	84.61	silver quality
islet of Langerhans	UBERON:0000006	83.39	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.36	gold quality
caudate nucleus	UBERON:0001873	83.35	gold quality
putamen	UBERON:0001874	82.54	gold quality
fallopian tube	UBERON:0003889	82.33	gold quality
prefrontal cortex	UBERON:0000451	81.81	gold quality
left testis	UBERON:0004533	81.17	gold quality
right testis	UBERON:0004534	80.88	gold quality
nasal cavity epithelium	UBERON:0005384	80.48	gold quality
hypothalamus	UBERON:0001898	80.47	gold quality
right atrium auricular region	UBERON:0006631	80.42	gold quality
anterior cingulate cortex	UBERON:0009835	80.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.14	gold quality
forebrain	UBERON:0001890	79.75	gold quality
apex of heart	UBERON:0002098	79.63	gold quality
testis	UBERON:0000473	79.56	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	25.67
E-MTAB-7316	yes	22.75
E-ANND-3	yes	9.54
E-MTAB-9388	yes	7.11
E-GEOD-125970	no	3.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting RIIAD1, 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-3140-3P	99.88	68.47	2069
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-6859-3P	97.26	64.69	428
HSA-MIR-6836-3P	97.08	64.99	712
HSA-MIR-6846-3P	94.80	65.19	389
HSA-MIR-450A-5P	93.89	64.57	50

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000098861
mus_musculus	Riiad1	ENSMUSG00000028139
rattus_norvegicus	Riiad1	ENSRNOG00000037310

Paralogs (2): SPA17 (ENSG00000064199), GAP43 (ENSG00000172020)

Protein

Protein identifiers

RIIa domain-containing protein 1 — A6NNX1 (reviewed: A6NNX1)

All UniProt accessions (2): A6NNX1, C9JPK7

RefSeq proteins (1): NP_001138428* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003117	cAMP_dep_PK_reg_su_I/II_a/b	Domain
IPR059162	RIIAD1	Domain

Pfam: PF02197

UniProt features (2 total): chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NNX1-F1	90.99	0.81

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): chr1q21, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP, FOXN3_TARGET_GENES, HDAC4_TARGET_GENES, NCOA2_TARGET_GENES, SOX3_TARGET_GENES, MIR6859_3P, GSE14769_UNSTIM_VS_40MIN_LPS_BMDM_UP, GAO_ESOPHAGUS_25W_C1_CILIATED_EPITHELIAL_CELLS, GAO_LARGE_INTESTINE_ADULT_CA_ENTEROENDOCRINE_CELLS, WP_ENDOTHELIN_PATHWAYS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RIIAD1	FAM89B	Q8N5H3	562
RIIAD1	TEX55	Q96M34	529
RIIAD1	SLC66A2	Q8N2U9	466
RIIAD1	EFCAB10	A6NFE3	447
RIIAD1	TCTA	P57738	430
RIIAD1	SMIM5	Q71RC9	422
RIIAD1	STMP1	E0CX11	392
RIIAD1	CATIP	Q7Z7H3	373
RIIAD1	ROPN1B	Q9BZX4	370
RIIAD1	SCOC	Q9UIL1	348
RIIAD1	TPGS1	Q6ZTW0	343
RIIAD1	PRPF38B	Q5VTL8	335
RIIAD1	TMEM212	A6NML5	333
RIIAD1	KIAA1549L	Q6ZVL6	328
RIIAD1	CFAP126	Q5VTH2	326

IntAct

0 interactions, top by confidence:

BioGRID (5): RIIAD1 (Two-hybrid), RIIAD1 (Two-hybrid), RIIAD1 (Two-hybrid), RIIAD1 (Two-hybrid), RIIAD1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMA8, A1A5P5, A6NNX1, E7F187, O43150, O46470, O54829, O94376, P45966, P47822, P49758, P49802, P49803, Q0VIA1, Q23288, Q23679, Q2KI89, Q2NKU6, Q32PB2, Q3KNY5, Q3ZCF2, Q4R6I5, Q4R6W4, Q5M6W3, Q5R629, Q5R6P5, Q5U245, Q5XIR8, Q61Z20, Q626S1, Q6CT76, Q6CVN3, Q6DJ25, Q6IP67, Q6IQX0, Q6VBQ6, Q758M1, Q7SIG6, Q7YTB0, Q80Y84

Diamond homologs: A6NNX1, B9EKE5, M0RAU5, Q0IHI3, Q32PB2, Q3KNY5, Q7Z7H3, Q08CH6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2510 predictions. Top by Δscore:

Variant	Effect	Δscore
1:151710751:C:CA	donor_gain	1.0000
1:151714497:G:GT	donor_gain	1.0000
1:151714592:ACC:A	donor_gain	1.0000
1:151714593:CCC:C	donor_gain	1.0000
1:151715894:A:AC	donor_gain	1.0000
1:151715895:C:CC	donor_gain	1.0000
1:151721168:G:T	donor_gain	1.0000
1:151721617:CAAG:C	donor_loss	1.0000
1:151721619:AGG:A	donor_loss	1.0000
1:151710457:C:T	acceptor_gain	0.9900
1:151710747:ATCTC:A	donor_gain	0.9900
1:151710799:T:A	donor_gain	0.9900
1:151714525:GGGTG:G	donor_gain	0.9900
1:151714526:GGTGG:G	donor_gain	0.9900
1:151714587:GACTC:G	donor_loss	0.9900
1:151714588:ACTC:A	donor_loss	0.9900
1:151714589:CT:C	donor_loss	0.9900
1:151714590:TCA:T	donor_loss	0.9900
1:151714591:CACC:C	donor_loss	0.9900
1:151714592:A:G	donor_loss	0.9900
1:151714673:CATC:C	acceptor_gain	0.9900
1:151714688:C:CT	acceptor_gain	0.9900
1:151715874:AC:A	donor_gain	0.9900
1:151715875:CC:C	donor_gain	0.9900
1:151715899:T:TA	donor_gain	0.9900
1:151716745:T:A	donor_gain	0.9900
1:151721619:AGGTG:A	donor_gain	0.9900
1:151722081:CCCA:C	acceptor_loss	0.9900
1:151722083:CA:C	acceptor_loss	0.9900
1:151722084:A:AG	acceptor_gain	0.9900

AlphaMissense

604 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:151727616:C:A	A68D	0.974
1:151727612:T:C	F67L	0.971
1:151727614:T:A	F67L	0.971
1:151727614:T:G	F67L	0.971
1:151728771:T:C	F72L	0.952
1:151728773:C:A	F72L	0.952
1:151728773:C:G	F72L	0.952
1:151722096:G:C	R32P	0.949
1:151728772:T:C	F72S	0.942
1:151722144:T:C	L48P	0.936
1:151722117:T:C	L39P	0.921
1:151722114:A:G	Y38C	0.918
1:151722114:A:C	Y38S	0.914
1:151727615:G:C	A68P	0.914
1:151722106:C:A	N35K	0.910
1:151722106:C:G	N35K	0.910
1:151722156:T:C	F52S	0.908
1:151728787:T:C	L77P	0.906
1:151722109:A:C	E36D	0.904
1:151722109:A:T	E36D	0.904
1:151722108:A:T	E36V	0.899
1:151722113:T:C	Y38H	0.891
1:151722125:C:G	H42D	0.884
1:151721620:G:C	K28N	0.879
1:151721620:G:T	K28N	0.879
1:151722155:T:C	F52L	0.875
1:151722157:C:A	F52L	0.875
1:151722157:C:G	F52L	0.875
1:151722101:G:C	A34P	0.874
1:151727595:C:A	P61Q	0.872

dbSNP variants (sampled 300 via entrez): RS1000065736 (1:151725824 T>C), RS1000079312 (1:151716616 A>G), RS1000554424 (1:151716245 A>C), RS1000573281 (1:151720923 T>C), RS1000876036 (1:151724886 G>A), RS1000905845 (1:151724452 A>G), RS1001066102 (1:151714159 C>T), RS1001144648 (1:151727544 A>G), RS1001274120 (1:151717843 A>G,T), RS1001397320 (1:151710817 G>C), RS1001429815 (1:151710418 G>A), RS1001484236 (1:151718281 T>A), RS1001796153 (1:151724678 A>C), RS1001857224 (1:151712333 T>C), RS1002141620 (1:151728509 A>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008916_88	Asthma	1.000000e-25

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	6
Aflatoxin B1	decreases methylation, increases expression, increases methylation	3
Benzo(a)pyrene	affects methylation, increases methylation	2
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
dimethylselenide	decreases expression, increases expression, increases oxidation	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
clothianidin	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Arsenic	increases methylation	1
Arsenicals	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Dactinomycin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Reactive Oxygen Species	increases expression, increases oxidation, decreases expression	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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