ARRDC1

Summary

ARRDC1 (arrestin domain containing 1, HGNC:28633) is a protein-coding gene on chromosome 9q34.3, encoding Arrestin domain-containing protein 1 (Q8N5I2). Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates.

Enables several functions, including arrestin family protein binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including extracellular vesicle biogenesis; negative regulation of Notch signaling pathway; and ubiquitin-dependent protein catabolic process. Located in cytoplasmic vesicle; extracellular vesicle; and plasma membrane.

Source: NCBI Gene 92714 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 165 total — 39 pathogenic, 5 likely-pathogenic
• MANE Select transcript: NM_152285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28633
Approved symbol	ARRDC1
Name	arrestin domain containing 1
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC40555
Ensembl gene	ENSG00000197070
Ensembl biotype	protein_coding
OMIM	619768
Entrez	92714

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 12 protein_coding, 8 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000371421, ENST00000419386, ENST00000431925, ENST00000461627, ENST00000466367, ENST00000468983, ENST00000471125, ENST00000475658, ENST00000483563, ENST00000491911, ENST00000495220, ENST00000497877, ENST00000858804, ENST00000858805, ENST00000858806, ENST00000858807, ENST00000858808, ENST00000858809, ENST00000929682, ENST00000969474, ENST00000969475

RefSeq mRNA: 2 — MANE Select: NM_152285 NM_001317968, NM_152285

CCDS: CCDS7049

Canonical transcript exons

ENST00000371421 — 8 exons

Exon	Start	End
ENSE00001455210	137605686	137605835
ENSE00001926645	137615074	137615360
ENSE00002180852	137614559	137615000
ENSE00003477756	137612896	137613006
ENSE00003555453	137613460	137613510
ENSE00003598911	137614032	137614214
ENSE00003645398	137613615	137613769
ENSE00003666812	137614299	137614475

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 98.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5724 / max 549.0955, expressed in 1796 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99703	14.8709	1761
99702	6.2574	1711
99704	1.8156	443
99707	1.3381	223
99706	0.9254	204
205697	0.3104	132
99705	0.0546	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.16	gold quality
granulocyte	CL:0000094	97.41	gold quality
right uterine tube	UBERON:0001302	96.99	gold quality
mucosa of transverse colon	UBERON:0004991	96.98	gold quality
minor salivary gland	UBERON:0001830	96.91	gold quality
metanephros cortex	UBERON:0010533	96.52	gold quality
esophagus mucosa	UBERON:0002469	96.01	gold quality
spleen	UBERON:0002106	95.71	gold quality
right lobe of thyroid gland	UBERON:0001119	95.43	gold quality
body of stomach	UBERON:0001161	95.41	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.38	gold quality
mouth mucosa	UBERON:0003729	95.28	gold quality
saliva-secreting gland	UBERON:0001044	95.15	gold quality
adenohypophysis	UBERON:0002196	95.10	gold quality
left lobe of thyroid gland	UBERON:0001120	95.09	gold quality
upper lobe of left lung	UBERON:0008952	95.09	gold quality
monocyte	CL:0000576	95.01	gold quality
transverse colon	UBERON:0001157	94.94	gold quality
leukocyte	CL:0000738	94.88	gold quality
body of pancreas	UBERON:0001150	94.78	gold quality
right lung	UBERON:0002167	94.77	gold quality
skin of abdomen	UBERON:0001416	94.62	gold quality
right lobe of liver	UBERON:0001114	94.42	gold quality
apex of heart	UBERON:0002098	94.41	gold quality
pituitary gland	UBERON:0000007	94.40	gold quality
skin of leg	UBERON:0001511	94.09	gold quality
upper lobe of lung	UBERON:0008948	94.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.97	gold quality
small intestine	UBERON:0002108	93.84	gold quality
nasal cavity epithelium	UBERON:0005384	93.58	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.09
E-MTAB-6142	no	147.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting ARRDC1, 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-6764-5P	99.75	67.89	2304
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-9900	96.06	65.48	557

Literature-anchored findings (GeneRIF, showing 3)

• The authors show that WWP1 changes the ubiquitination status of ARRDC1, suggesting that the arrestins may provide a platform for ubiquitination in PPXY-dependent budding. (PMID:21191027)
• PAX5-activated lncRNA ARRDC1-AS1 accelerates the autophagy and progression of DLBCL through sponging miR-2355-5p to regulate ATG5. (PMID:34499929)
• MicroRNA miR-124-3p suppresses proliferation and epithelial-mesenchymal transition of hepatocellular carcinoma via ARRDC1 (arrestin domain containing 1). (PMID:35300565)

Cross-species orthologs

14 orthologs

Organism	Symbol	Gene ID
danio_rerio	arrdc1b	ENSDARG00000079839
mus_musculus	Arrdc1	ENSMUSG00000026972
rattus_norvegicus	Arrdc1	ENSRNOG00000007622
caenorhabditis_elegans		WBGENE00008843
caenorhabditis_elegans		WBGENE00009852
caenorhabditis_elegans		WBGENE00011052
caenorhabditis_elegans		WBGENE00011053
caenorhabditis_elegans		WBGENE00011054
caenorhabditis_elegans		WBGENE00012464
caenorhabditis_elegans		WBGENE00013043
caenorhabditis_elegans		WBGENE00014161
caenorhabditis_elegans		WBGENE00018060
caenorhabditis_elegans		WBGENE00018061
caenorhabditis_elegans		WBGENE00020612

Paralogs (5): ARRDC2 (ENSG00000105643), ARRDC3 (ENSG00000113369), ARRDC4 (ENSG00000140450), ARRDC5 (ENSG00000205784), TXNIP (ENSG00000265972)

Protein

Protein identifiers

Arrestin domain-containing protein 1 — Q8N5I2 (reviewed: Q8N5I2)

Alternative names: Alpha-arrestin 1

All UniProt accessions (4): F2Z3I4, Q5T370, Q5T371, Q8N5I2

UniProt curated annotations — full annotation on UniProt →

Function. Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates. Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles. More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles. By participating in the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway.

Subunit / interactions. Interacts (via PPxY motifs) with ITCH (via WW domains); the interaction is direct and participates in the recruitment of the ubiquitin-protein ligase ITCH to the NOTCH1 receptor. Interacts with ARRB1 and ARRB2; the interaction is direct. Interacts with TSG101; may recruit TSG101 to the plasma membrane. Interacts (via PPxY motifs) with WWP2 (via WW domains); ubiquitinates ARRDC1. Interacts with SLC11A2; controls the incorporation of SLC11A2 into extracellular vesicles through an ubiquitination-dependent mechanism. Interacts with WWP1 (via WW domains). Interacts with NEDD4 (via WW domains). Interacts with PDCD6IP.

Subcellular location. Cell membrane.

Post-translational modifications. Ubiquitinated. Ubiquitination by WWP2; promotes localization to extracellular microvesicles. Ubiquitinated by WWP1.

Domain organisation. The PPxY motifs mediate interaction with WW domain-containing ubiquitin-protein ligases.

Similarity. Belongs to the arrestin family.

RefSeq proteins (2): NP_001304897, NP_689498* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011021	Arrestin-like_N	Domain
IPR011022	Arrestin-like_C	Domain
IPR014752	Arrestin-like_C_sf	Homologous_superfamily
IPR014756	Ig_E-set	Homologous_superfamily
IPR050357	Arrestin_domain-protein	Family

Pfam: PF00339, PF02752

UniProt features (13 total): mutagenesis site 6, region of interest 2, short sequence motif 2, chain 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5I2-F1	78.34	0.63

Functional residue map

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

Mutagenesis-validated functional residues (6):

Position	Phenotype
310	decreased interaction with tsg101. no effect on localization to the cell membrane. loss of localization to extracellular
403	loss of interaction with itch; when associated with a-416.
416	loss of interaction with itch; when associated with a-403.
88	loss of localization to the cell membrane and extracellular vesicles. localizes to the cytoplasm.
180	decreased localization to the cell membrane and extracellular vesicles.
191	decreased localization to the cell membrane and extracellular vesicles.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 81 (showing top): TTTGTAG_MIR520D, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEGATIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GTGCCTT_MIR506, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_PROTEIN_CATABOLIC_PROCESS, LEIN_MIDBRAIN_MARKERS, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOBP_PROTEOLYSIS, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING, WAMUNYOKOLI_OVARIAN_CANCER_LMP_UP, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3

GO Biological Process (6): ubiquitin-dependent protein catabolic process (GO:0006511), extracellular transport (GO:0006858), protein transport (GO:0015031), protein ubiquitination (GO:0016567), negative regulation of Notch signaling pathway (GO:0045746), extracellular vesicle biogenesis (GO:0140112)

GO Molecular Function (5): ubiquitin protein ligase binding (GO:0031625), identical protein binding (GO:0042802), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), arrestin family protein binding (GO:1990763), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410), extracellular exosome (GO:0070062), extracellular vesicle (GO:1903561), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular region	2
transport	2
protein binding	2
cellular anatomical structure	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
intracellular protein localization	1
establishment of protein localization	1
protein modification by small protein conjugation	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
negative regulation of signal transduction	1
cellular component biogenesis	1
ubiquitin-like protein ligase binding	1
enzyme-substrate adaptor activity	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
cytoplasm	1
intracellular vesicle	1
extracellular vesicle	1
vesicle	1
extracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARRDC1	TSG101	Q99816	993
ARRDC1	WWP2	O00308	794
ARRDC1	NEDD4	P46934	703
ARRDC1	SAG	P10523	594
ARRDC1	ARF6	P26438	570
ARRDC1	CEP55	Q53EZ4	570
ARRDC1	ARRB1	P49407	568
ARRDC1	RAB22A	Q9UL26	546
ARRDC1	CD63	P08962	502
ARRDC1	MYBBP1A	Q9BQG0	468
ARRDC1	SDCBP	O00560	444
ARRDC1	PDCD6IP	Q8WUM4	443
ARRDC1	VPS4A	Q9UN37	426
ARRDC1	B4E171	B4E171	426
ARRDC1	NEDD4L	Q96PU5	414

IntAct

45 interactions, top by confidence:

A	B	Type	Score
WWP2	ARRDC1	psi-mi:“MI:0915”(physical association)	0.850
ARRDC1	WWP2	psi-mi:“MI:0914”(association)	0.850
ITCH	ARRDC1	psi-mi:“MI:0915”(physical association)	0.800
ARRDC1	WWP1	psi-mi:“MI:0915”(physical association)	0.800
KLHL12	ARRDC1	psi-mi:“MI:0915”(physical association)	0.670
ARRDC1	NEDD4	psi-mi:“MI:0914”(association)	0.640
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
NCAPG	ARRDC1	psi-mi:“MI:0915”(physical association)	0.560
EPN2	ARRDC1	psi-mi:“MI:0915”(physical association)	0.560
MTURN	ARRDC1	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	ARRDC1	psi-mi:“MI:0915”(physical association)	0.560
NCAPG	ARRDC1	psi-mi:“MI:0914”(association)	0.560
WWP2	POLR2A	psi-mi:“MI:0914”(association)	0.530
ARRDC1	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
UBE2E1	ARRDC1	psi-mi:“MI:0915”(physical association)	0.370
UBE2E3	ARRDC1	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ARRDC1	KDM1A	psi-mi:“MI:0914”(association)	0.350
WWP2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
FAM168A	CCDC85C	psi-mi:“MI:0914”(association)	0.350
WWP1	TP73	psi-mi:“MI:0914”(association)	0.350
ARRDC1	NOS1	psi-mi:“MI:0914”(association)	0.350
CFL2	VPS37C	psi-mi:“MI:0914”(association)	0.350
CSDE1	VPS37C	psi-mi:“MI:0914”(association)	0.350
TSC22D3	VPS37C	psi-mi:“MI:0914”(association)	0.350

BioGRID (152): ADRB2 (Affinity Capture-Western), ARRDC1 (Affinity Capture-MS), KDM1A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), GLMN (Affinity Capture-MS), NXN (Affinity Capture-MS), PBK (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), ITCH (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), KCTD2 (Affinity Capture-MS), KCTD17 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), RCOR1 (Affinity Capture-MS), RCOR3 (Affinity Capture-MS)

ESM2 similar proteins: A1A5C7, A5D7B1, A6H7A0, A6NCF5, A6QLN9, A8MUP2, D3YYU8, D3ZZ80, O43688, O75147, O88843, P08887, Q14CX5, Q3SZQ2, Q3UHH2, Q58CT4, Q5EA19, Q5R4Q7, Q5R7S9, Q5RCI5, Q5RFN0, Q5SP67, Q5SUV1, Q642A6, Q6IA17, Q6PCB0, Q7TPB4, Q86TI4, Q8BGR6, Q8BZI6, Q8K5A4, Q8N5I2, Q8N653, Q8R2Z5, Q8TBF2, Q8VE98, Q92737, Q969P0, Q96NJ5, Q96NT3

Diamond homologs: A0A0B4J1F4, B0BNL6, Q8N5I2, Q99KN1, Q8NCT1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 30 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein monoubiquitination	5	59.3×	5e-06
proteasome-mediated ubiquitin-dependent protein catabolic process	5	9.0×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	39
Likely pathogenic	5
Uncertain significance	104
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	Pathogenic
155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	Pathogenic
2671589	Single allele	Pathogenic
3238660	GRCh38/hg38 9q34.3(chr9:137552081-137879159)	Pathogenic
3238661	GRCh38/hg38 9q34.3(chr9:137710967-137817525)	Pathogenic
3238665	GRCh38/hg38 9q34.3(chr9:137710967-138069763)	Pathogenic
3238674	GRCh38/hg38 9q34.3(chr9:137522728-137552409)	Pathogenic
3238675	GRCh38/hg38 9q34.3(chr9:137710967-137986854)	Pathogenic
3238676	GRCh38/hg38 9q34.3(chr9:137272928-137711050)	Pathogenic
3238678	GRCh38/hg38 9q34.3(chr9:137595229-137625315)	Pathogenic
3238680	GRCh38/hg38 9q34.3(chr9:137581196-137718242)	Pathogenic
3238684	GRCh38/hg38 9q34.3(chr9:137615331-137619049)	Pathogenic
3238685	GRCh38/hg38 9q34.3(chr9:137423394-137619049)	Pathogenic
3238691	GRCh38/hg38 9q34.3(chr9:137456472-137656656)	Pathogenic
3238692	GRCh38/hg38 9q34.3(chr9:137505548-138105548)	Pathogenic
3238693	GRCh38/hg38 9q34.3(chr9:138125938-138394717)	Pathogenic
3238698	GRCh38/hg38 9q34.3(chr9:137614558-138394717)	Pathogenic
3238699	GRCh38/hg38 9q34.3(chr9:137599275-137764604)	Pathogenic
3238703	GRCh38/hg38 9q34.3(chr9:137508905-137701735)	Pathogenic
3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	Pathogenic
3238711	GRCh38/hg38 9q34.3(chr9:137375729-137696525)	Pathogenic
3238712	GRCh38/hg38 9q34.3(chr9:137574569-138212068)	Pathogenic
3238713	GRCh38/hg38 9q34.3(chr9:137710967-137917437)	Pathogenic
3238715	GRCh38/hg38 9q34.3(chr9:137522728-137619049)	Pathogenic
3238720	GRCh38/hg38 9q34.3(chr9:137456472-138100471)	Pathogenic
3238721	GRCh38/hg38 9q34.3(chr9:137615623-137984254)	Pathogenic
3238724	GRCh38/hg38 9q34.3(chr9:137757880-137971592)	Pathogenic
3238726	GRCh38/hg38 9q34.3(chr9:137505613-138394717)	Pathogenic
3238727	GRCh38/hg38 9q34.3(chr9:137467316-137778055)	Pathogenic
3238728	GRCh38/hg38 9q34.3(chr9:137574569-138112014)	Pathogenic

SpliceAI

1744 predictions. Top by Δscore:

Variant	Effect	Δscore
9:137613005:GG:G	donor_gain	1.0000
9:137613006:GG:G	donor_gain	1.0000
9:137613613:A:AG	acceptor_gain	1.0000
9:137613614:G:GG	acceptor_gain	1.0000
9:137613769:GGTGA:G	donor_loss	1.0000
9:137613771:T:A	donor_loss	1.0000
9:137614030:A:AG	acceptor_gain	1.0000
9:137614031:G:GG	acceptor_gain	1.0000
9:137614031:GC:G	acceptor_gain	1.0000
9:137614033:A:AG	acceptor_gain	1.0000
9:137614199:GGCC:G	donor_gain	1.0000
9:137614211:GCAGG:G	donor_loss	1.0000
9:137614212:CAG:C	donor_loss	1.0000
9:137614213:AGGTC:A	donor_loss	1.0000
9:137614214:GGTCA:G	donor_loss	1.0000
9:137614215:GTCAG:G	donor_loss	1.0000
9:137614294:CCCAG:C	acceptor_loss	1.0000
9:137614295:CCAG:C	acceptor_loss	1.0000
9:137614297:A:AG	acceptor_gain	1.0000
9:137614297:A:AT	acceptor_loss	1.0000
9:137614298:G:A	acceptor_loss	1.0000
9:137614298:G:GA	acceptor_gain	1.0000
9:137614298:GA:G	acceptor_gain	1.0000
9:137614298:GAA:G	acceptor_gain	1.0000
9:137614298:GAAA:G	acceptor_gain	1.0000
9:137614474:AGG:A	donor_loss	1.0000
9:137614476:G:C	donor_loss	1.0000
9:137614634:G:GG	donor_gain	1.0000
9:137605780:G:GT	donor_gain	0.9900
9:137605780:G:T	donor_gain	0.9900

AlphaMissense

2777 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:137614201:C:A	A202D	0.997
9:137614207:T:C	L204P	0.996
9:137614308:T:G	Y210D	0.996
9:137614105:C:A	A170D	0.995
9:137614169:C:A	N191K	0.995
9:137614169:C:G	N191K	0.995
9:137605793:G:T	G26W	0.994
9:137613648:G:A	G105E	0.994
9:137614123:G:A	G176D	0.994
9:137614608:G:A	G282D	0.994
9:137614608:G:T	G282V	0.994
9:137612899:T:A	I41N	0.993
9:137613493:T:C	F88S	0.993
9:137613672:C:A	A113D	0.993
9:137613678:T:A	I115N	0.993
9:137614125:T:G	Y177D	0.993
9:137614167:A:G	N191D	0.993
9:137614213:A:C	Q206P	0.993
9:137605794:G:A	G26E	0.992
9:137614099:T:C	L168P	0.992
9:137605793:G:A	G26R	0.991
9:137605793:G:C	G26R	0.991
9:137613499:T:C	F90S	0.991
9:137613492:T:C	F88L	0.990
9:137613494:C:A	F88L	0.990
9:137613494:C:G	F88L	0.990
9:137614200:G:C	A202P	0.990
9:137614207:T:A	L204Q	0.990
9:137614560:T:A	V266D	0.990
9:137614593:T:C	L277P	0.990

dbSNP variants (sampled 300 via entrez): RS1000134992 (9:137615336 G>A), RS1000427898 (9:137613166 G>A,C,T), RS1000485847 (9:137604363 C>A,T), RS1000846912 (9:137610361 C>T), RS1000876389 (9:137610109 G>A,C), RS1000904403 (9:137606002 C>A,G), RS1001090416 (9:137605848 C>T), RS1001357903 (9:137614926 G>A), RS1001454776 (9:137606074 G>A), RS1001508418 (9:137608246 G>A,C), RS1001538098 (9:137608107 T>G), RS1002070744 (9:137612453 G>A), RS1002236018 (9:137610515 C>A), RS1002332173 (9:137605503 G>C), RS1002587243 (9:137610204 C>T)

Disease associations

OMIM: gene MIM:619768 | disease phenotypes: MIM:610253

GenCC curated gene-disease

Mondo (1): Kleefstra syndrome 1 (MONDO:0027407)

Orphanet (1): Kleefstra syndrome (Orphanet:261494)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007994_19	Asthma (age of onset)	3.000000e-08
GCST007995_55	Asthma (childhood onset)	4.000000e-09
GCST010042_47	Asthma	4.000000e-09

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563043	Kleefstra Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, affects cotreatment, affects expression, increases abundance	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
abrine	decreases expression	1
bisphenol S	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	decreases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Ozone	increases abundance, affects expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Thiram	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B5JI	HAP1 ARRDC1 (-) 2	Cancer cell line	Male
CVCL_B5JJ	HAP1 ARRDC1 (-) 3	Cancer cell line	Male
CVCL_XL55	HAP1 ARRDC1 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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