HIF1A-AS1

Summary

HIF1A-AS1 (HIF1A antisense RNA 1, HGNC:43014) is a long non-coding RNA gene on chromosome 14q23.2.

At a glance

• Clinical variants (ClinVar): 10 total — 1 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43014
Approved symbol	HIF1A-AS1
Name	HIF1A antisense RNA 1
Location	14q23.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	HIFAL, 5’aHIF-1A
Ensembl gene	ENSG00000258777
OMIM	614528
Entrez	100750246
RNAcentral	URS0000382715 — lncRNA, 652 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 89.15.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4357 / max 13.9922, expressed in 229 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143584	4.2039	736
143583	0.4863	181
143579	0.4357	229

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.15	gold quality
ganglionic eminence	UBERON:0004023	66.91	gold quality
ventricular zone	UBERON:0003053	64.25	gold quality
cortical plate	UBERON:0005343	63.32	gold quality
calcaneal tendon	UBERON:0003701	58.22	gold quality
skeletal muscle tissue	UBERON:0001134	58.17	gold quality
prefrontal cortex	UBERON:0000451	56.93	gold quality
vermiform appendix	UBERON:0001154	56.21	gold quality
endometrium	UBERON:0001295	55.23	gold quality
lymph node	UBERON:0000029	55.12	gold quality
islet of Langerhans	UBERON:0000006	54.83	gold quality
lower esophagus mucosa	UBERON:0035834	54.64	gold quality
gall bladder	UBERON:0002110	54.62	gold quality
blood	UBERON:0000178	54.24	gold quality
putamen	UBERON:0001874	54.20	gold quality
tonsil	UBERON:0002372	54.16	gold quality
smooth muscle tissue	UBERON:0001135	54.14	gold quality
monocyte	CL:0000576	53.76	gold quality
caudate nucleus	UBERON:0001873	53.64	gold quality
myometrium	UBERON:0001296	53.38	gold quality
nucleus accumbens	UBERON:0001882	53.29	gold quality
temporal lobe	UBERON:0001871	53.03	gold quality
amygdala	UBERON:0001876	52.93	gold quality
frontal cortex	UBERON:0001870	52.44	gold quality
placenta	UBERON:0001987	52.35	gold quality
substantia nigra	UBERON:0002038	52.30	gold quality
hypothalamus	UBERON:0001898	52.29	gold quality
adult mammalian kidney	UBERON:0000082	52.16	gold quality
anterior cingulate cortex	UBERON:0009835	51.75	gold quality
bone marrow	UBERON:0002371	51.65	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.97

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 8)

• this study demonstrated an enhanced serum HIF1A-AS1 level in CRC, which could serve as a useful diagnostic and independent prognostic biomarker for CRC, associated with low differentiation of CRC, large tumor size, high TNM stage, high T stage, as well as lymph node metastasis and distant metastasis. (PMID:28946548)
• Inhibition of HIF1A-AS1 impedes the arecoline-induced migration activity of human oral mucosal fibroblasts. (PMID:31959495)
• Inhibition of HIF1A-AS1 promoted starvation-induced hepatocellular carcinoma cell apoptosis by reducing HIF-1alpha/mTOR-mediated autophagy. (PMID:32473641)
• Long Noncoding RNA Hypoxia-Inducible Factor-1 Alpha-Antisense RNA 1 Regulates Vascular Smooth Muscle Cells to Promote the Development of Thoracic Aortic Aneurysm by Modulating Apoptotic Protease-Activating Factor 1 and Targeting let-7g. (PMID:32653692)
• LncRNA HIF1A-AS1 Promotes Gemcitabine Resistance of Pancreatic Cancer by Enhancing Glycolysis through Modulating the AKT/YB1/HIF1alpha Pathway. (PMID:34593522)
• Long non-coding RNA HIF1A-AS2 modulates the proliferation, migration, and phenotypic switch of aortic smooth muscle cells in aortic dissection via sponging microRNA-33b. (PMID:35212609)
• HIF1alpha-AS1 is a DNA:DNA:RNA triplex-forming lncRNA interacting with the HUSH complex. (PMID:36323673)
• Transcriptomics Provides Novel Insights into the Regulatory Mechanism of IncRNA HIF1 A-AS1 on Vascular Smooth Muscle Cells. (PMID:37801489)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	8
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1803800	NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000126254 (14:61695702 C>T), RS1000464543 (14:61694626 C>T), RS1000493978 (14:61695031 G>A), RS1000546294 (14:61689595 T>C), RS1001342228 (14:61684142 C>T), RS1001436733 (14:61683717 C>T), RS1001545840 (14:61690141 T>C), RS1001569941 (14:61686196 G>C), RS1001602731 (14:61696477 T>C,G), RS1001849383 (14:61690431 C>G,T), RS1001897172 (14:61684833 A>G), RS1001937429 (14:61695444 C>T), RS1002512761 (14:61691462 T>A,C), RS1002572589 (14:61687842 T>C), RS1002603943 (14:61687503 G>A)

Disease associations

OMIM: gene MIM:614528 | disease phenotypes: MIM:166000

GenCC curated gene-disease

Mondo (1): Ollier disease (MONDO:0008145)

Orphanet (1): Ollier disease (Orphanet:296)

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: 0 entries

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dimethylselenide	increases oxidation, decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1
Ozone	decreases expression, increases oxidation	1
Gold Compounds	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04134572	Not specified	RECRUITING	Registry of Ollier Disease and Maffucci Syndrome
NCT04844697	Not specified	COMPLETED	Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study
NCT06397443	Not specified	COMPLETED	Ready to Sail: Evaluating Sailing’s Feasibility as Ergotherapy
NCT06749366	Not specified	RECRUITING	Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing
NCT07379008	Not specified	COMPLETED	Safety and Efficacy of Non-Setting Paste in Bone Defect Reconstruction