IQANK1

Summary

IQANK1 (IQ motif and ankyrin repeat containing 1, HGNC:49576) is a protein-coding gene on chromosome 8q24.3, encoding IQ motif and ankyrin repeat domain-containing protein 1 (A8MXQ7).

At a glance

• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001381874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49576
Approved symbol	IQANK1
Name	IQ motif and ankyrin repeat containing 1
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	onco-lncRNA-3, CACClnc
Ensembl gene	ENSG00000203499
Ensembl biotype	protein_coding
OMIM	618942
Entrez	642574

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000527139, ENST00000532625, ENST00000533004, ENST00000534089, ENST00000534398

RefSeq mRNA: 2 — MANE Select: NM_001381874 NM_001381874, NM_001381875

CCDS: CCDS94352, CCDS94353

Canonical transcript exons

ENST00000527139 — 14 exons

Exon	Start	End
ENSE00001596317	143735850	143735938
ENSE00002141169	143789436	143789528
ENSE00002182298	143790137	143790271
ENSE00002184560	143788915	143789063
ENSE00002189334	143790350	143790645
ENSE00002194794	143789971	143790064
ENSE00003794077	143771801	143771965
ENSE00003794736	143772052	143772243
ENSE00003795539	143771488	143771618
ENSE00003795887	143789761	143789869
ENSE00003797341	143789189	143789243
ENSE00003798643	143739859	143739948
ENSE00003800281	143772357	143772482
ENSE00003906014	143734139	143734219

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 98.69.

FANTOM5 (CAGE): breadth broad, TPM avg 7.2778 / max 146.1015, expressed in 383 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91424	3.7473	207
91422	2.9443	266
91421	0.2655	175
91420	0.2396	104
91423	0.0811	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.69	gold quality
esophagus mucosa	UBERON:0002469	93.43	gold quality
lower esophagus mucosa	UBERON:0035834	91.67	gold quality
skin of abdomen	UBERON:0001416	90.18	gold quality
zone of skin	UBERON:0000014	88.74	gold quality
skin of leg	UBERON:0001511	87.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.80	gold quality
left testis	UBERON:0004533	86.03	gold quality
right testis	UBERON:0004534	85.79	gold quality
testis	UBERON:0000473	84.76	gold quality
vagina	UBERON:0000996	82.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.84	gold quality
fallopian tube	UBERON:0003889	81.33	gold quality
saliva-secreting gland	UBERON:0001044	80.47	gold quality
minor salivary gland	UBERON:0001830	80.44	gold quality
prostate gland	UBERON:0002367	78.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.10	gold quality
body of pancreas	UBERON:0001150	78.03	gold quality
placenta	UBERON:0001987	77.92	gold quality
pancreas	UBERON:0001264	75.61	gold quality
tonsil	UBERON:0002372	75.30	gold quality
thyroid gland	UBERON:0002046	74.36	gold quality
left lobe of thyroid gland	UBERON:0001120	74.22	gold quality
upper lobe of left lung	UBERON:0008952	73.81	gold quality
mucosa of transverse colon	UBERON:0004991	73.65	gold quality
right lobe of thyroid gland	UBERON:0001119	73.62	gold quality
urinary bladder	UBERON:0001255	73.22	gold quality
right lung	UBERON:0002167	72.68	gold quality
metanephros cortex	UBERON:0010533	72.47	gold quality
lung	UBERON:0002048	72.09	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	34.82
E-MTAB-6678	no	3.38
E-ANND-3	no	2.75

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 15)

• Study validated the role of 2 uncharacterized lncRNAs, onco-lncRNA-3 and onco-lncRNA-12, and a previously reported lncRNA, CCAT1, in S-phase cell cycle across cancer types. (PMID:25864709)
• Results showed that FAM83H-AS1 is overexpressed in lung neoplasm and indicated that FAM83H-AS1 may not only be a potential biomarker for diagnosis and prognosis of lung cancer, but also play a critical role in lung cancer progression including cell proliferation, invasion, migration and colony formation. (PMID:28198463)
• Loss-of-function assays demonstrated that silenced FAM83H-AS1 obviously suppressed cell proliferation via regulating the cell-cycle distribution and cell apoptosis rate, and mechanistic experiments revealed that FAM83H-AS1 could epidemically silence CDKN1A expression through recruiting EZH2 to the promoter of CDKN1A, thereby influencing the cell cycle and proliferation. (PMID:29870057)
• FAM83H-AS1 is involved in the progression of bladder cancer and serves as a prognostic biomarker and potential therapeutic target for patients with bladder cancer. (PMID:30537032)
• FAM83H-AS1 contributes to the radioresistance and cell metastasis in ovarian cancer through stabilizing HuR protein (PMID:30831080)
• Long non-coding RNA FAM83H-AS1 is regulated by human papillomavirus 16 E6 independently of p53 in cervical cancer cells. (PMID:30842470)
• dysregulated expression of FAM83H-AS1 played a crucial role in progression of intervertebral disc degeneration. (PMID:31102263)
• Clinical significance of lncRNA FAM83H-AS1 in ovarian cancer. (PMID:31210291)
• The aim was to analyze the expression pattern and clinical significance of FAM83H-AS1 and further analyse its prognostic value in colon cancer. (PMID:31545230)
• Upregulation of LncRNA FAM83H-AS1 in hepatocellular carcinoma promotes cell proliferation, migration and invasion by Wnt/beta-catenin pathway. (PMID:31599410)
• FAM83H-AS1 role in the osteogenic differentiation of the bone mesenchymal stem cells.FAM83H-AS1 negatively regulated microRNA 541-3p and WNT3A. (PMID:31871129)
• FAM83H-AS1 is a noncoding oncogenic driver and therapeutic target of lung adenocarcinoma. (PMID:33634993)
• WTAP-Involved the m6A Modification of lncRNA FAM83H-AS1 Accelerates the Development of Gastric Cancer. (PMID:37477820)
• M6A-modified lncRNA FAM83H-AS1 promotes colorectal cancer progression through PTBP1. (PMID:38964733)
• LncRNA FAM83H-AS1 inhibits ferroptosis of endometrial cancer by promoting DNMT1-mediated CDO1 promoter hypermethylation. (PMID:39159808)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Iqank1	ENSMUSG00000102018
rattus_norvegicus	Iqank1	ENSRNOG00000063360

Paralogs (2): GABPB1 (ENSG00000104064), GABPB2 (ENSG00000143458)

Protein

Protein identifiers

IQ motif and ankyrin repeat domain-containing protein 1 — A8MXQ7 (reviewed: A8MXQ7)

All UniProt accessions (2): A0A1B0GUK7, A8MXQ7

RefSeq proteins (2): NP_001368803, NP_001368804 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF00023

UniProt features (7 total): repeat 2, chain 1, domain 1, region of interest 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MXQ7-F1	80.03	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 28 (showing top): chr8q24, CREB3L4_TARGET_GENES, FOXN3_TARGET_GENES, GREB1_TARGET_GENES, KAT5_TARGET_GENES, KMT2D_TARGET_GENES, PCGF1_TARGET_GENES, ZFP91_TARGET_GENES, ZNF581_TARGET_GENES, AHRR_TARGET_GENES, MANNO_MIDBRAIN_NEUROTYPES_HRGL1, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_KIDNEY_URETERIC_BUD_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, ZSCAN5DP_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

707 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IQANK1	ZNF280A	P59817	580
IQANK1	SLC60A1	Q8N468	571
IQANK1	RIPPLY3	P57055	529
IQANK1	DNAJC12	Q9UKB3	441
IQANK1	ZMYND10	O75800	431
IQANK1	ABCA10	Q8WWZ4	425
IQANK1	GNGT1	P63211	410
IQANK1	CEACAM7	Q14002	408
IQANK1	A2ML1	A8K2U0	393
IQANK1	UQCRQ	O14949	366
IQANK1	ZNF775	Q96BV0	359
IQANK1	TNNI1	P19237	327
IQANK1	MCHR1	Q99705	326
IQANK1	MAGEB6	Q8N7X4	309
IQANK1	TMEM120A	Q9BXJ8	307

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CD247	RSL1D1	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A061IR73, A5YM72, A6QR56, A8MXQ7, D3KCC4, D3Z7H8, I3L5V6, O19179, O95382, P0C263, P0DPD7, P0DPE1, P10938, P11086, P14061, P51656, P51657, P51840, P52785, P54777, Q02846, Q0V8J4, Q13608, Q1WNP0, Q2VPK5, Q561R2, Q5XIH9, Q643R3, Q6NVG1, Q6PAT0, Q6SZW1, Q6ZPS2, Q7TMC8, Q8IYX4, Q8IZ83, Q8IZY2, Q8K248, Q8N0W3, Q8N2G8, Q96EY9

Diamond homologs: A8MXQ7, Q3TYL0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3580 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:143790486:T:C	F521L	0.930
8:143790488:C:A	F521L	0.930
8:143790488:C:G	F521L	0.930
8:143790177:T:C	F444L	0.909
8:143790179:C:A	F444L	0.909
8:143790179:C:G	F444L	0.909
8:143788956:G:C	W277C	0.907
8:143788956:G:T	W277C	0.907
8:143772393:T:C	F234L	0.904
8:143772395:T:A	F234L	0.904
8:143772395:T:G	F234L	0.904
8:143771924:T:C	F144L	0.902
8:143771926:C:A	F144L	0.902
8:143771926:C:G	F144L	0.902
8:143790510:T:C	F529L	0.892
8:143790512:C:A	F529L	0.892
8:143790512:C:G	F529L	0.892
8:143771529:T:C	F73L	0.873
8:143771531:C:A	F73L	0.873
8:143771531:C:G	F73L	0.873
8:143788954:T:A	W277R	0.869
8:143788954:T:C	W277R	0.869
8:143790138:T:A	W431R	0.861
8:143790138:T:C	W431R	0.861
8:143771518:T:C	I69T	0.828
8:143790031:A:T	K419I	0.823
8:143790049:T:C	I425T	0.822
8:143788955:G:T	W277L	0.814
8:143790140:G:C	W431C	0.812
8:143790140:G:T	W431C	0.812

dbSNP variants (sampled 300 via entrez): RS1000012694 (8:143740364 C>T), RS1000014935 (8:143759904 G>T), RS1000122368 (8:143785614 C>T), RS1000279205 (8:143781435 C>T), RS1000409711 (8:143787496 T>C), RS1000424864 (8:143747017 T>C), RS1000524068 (8:143764104 C>A,T), RS1000580037 (8:143733216 G>A,C,T), RS1000720548 (8:143775486 C>T), RS1000772658 (8:143747175 G>A), RS1000810620 (8:143790501 C>T), RS1000813931 (8:143753122 G>T), RS1001035059 (8:143769762 A>G), RS1001117279 (8:143764236 A>C), RS1001243814 (8:143736108 C>T)

Disease associations

OMIM: gene MIM:618942 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	decreases expression, affects cotreatment	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	decreases expression	1
fipronil	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
DEET	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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