Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3060
Gene name	Hypocretin neuropeptide precursor
Gene symbol	HCRT
Synonyms (NCBI Gene)	NRCLP1OXPPOX
Chromosome	17
Chromosome location	17q21.2
Summary	This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, funct

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894574	A>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments
MIRT2008883	hsa-miR-4314	CLIP-seq
MIRT2008884	hsa-miR-4436a	CLIP-seq
MIRT2008885	hsa-miR-4488	CLIP-seq
MIRT2008886	hsa-miR-4656	CLIP-seq
MIRT2008887	hsa-miR-4667-5p	CLIP-seq
MIRT2008888	hsa-miR-4697-5p	CLIP-seq
MIRT2008889	hsa-miR-4700-5p	CLIP-seq
MIRT2008890	hsa-miR-637	CLIP-seq
MIRT2008883	hsa-miR-4314	CLIP-seq
MIRT2008885	hsa-miR-4488	CLIP-seq
MIRT2008886	hsa-miR-4656	CLIP-seq
MIRT2008887	hsa-miR-4667-5p	CLIP-seq
MIRT2008888	hsa-miR-4697-5p	CLIP-seq
MIRT2008889	hsa-miR-4700-5p	CLIP-seq
MIRT2008890	hsa-miR-637	CLIP-seq
MIRT2008883	hsa-miR-4314	CLIP-seq
MIRT2008885	hsa-miR-4488	CLIP-seq
MIRT2008886	hsa-miR-4656	CLIP-seq
MIRT2008887	hsa-miR-4667-5p	CLIP-seq
MIRT2008888	hsa-miR-4697-5p	CLIP-seq
MIRT2008889	hsa-miR-4700-5p	CLIP-seq
MIRT2008890	hsa-miR-637	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001659	Process	Temperature homeostasis	IBA
GO:0001659	Process	Temperature homeostasis	IEA
GO:0005184	Function	Neuropeptide hormone activity	IBA
GO:0005184	Function	Neuropeptide hormone activity	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9419374
GO:0007631	Process	Feeding behavior	IEA
GO:0008021	Component	Synaptic vesicle	TAS	9419374
GO:0008156	Process	Negative regulation of DNA replication	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030431	Process	Sleep	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031771	Function	Type 1 orexin receptor binding	IBA
GO:0031771	Function	Type 1 orexin receptor binding	IEA
GO:0031772	Function	Type 2 orexin receptor binding	IBA
GO:0031772	Function	Type 2 orexin receptor binding	IEA
GO:0042594	Process	Response to starvation	IBA
GO:0042755	Process	Eating behavior	IBA
GO:0042755	Process	Eating behavior	IEA
GO:0043267	Process	Negative regulation of potassium ion transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0046928	Process	Regulation of neurotransmitter secretion	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051928	Process	Positive regulation of calcium ion transport	IEA
GO:0051970	Process	Negative regulation of transmission of nerve impulse	IEA
GO:0051971	Process	Positive regulation of transmission of nerve impulse	IBA
GO:0051971	Process	Positive regulation of transmission of nerve impulse	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0097305	Process	Response to alcohol	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0099013	Component	Neuronal dense core vesicle lumen	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	23700511

MIM	HGNC	e!Ensembl
602358	4847	ENSG00000161610

O43612

Protein name

Hypocretin neuropeptide precursor (Hypocretin) (Hcrt) (Orexin precursor) (Prepro-orexin) (Preprohypocretin) [Cleaved into: Orexin-A (Hypocretin-1) (Hcrt1); Orexin-B (Hypocretin-2) (Hcrt2)]

Protein function

Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the home

PDB

1CQ0 , 1R02 , 1UVQ , 1WSO , 7L1U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02072	Orexin	1 → 130	Prepro-orexin	Family

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in subthalamic nucleus but undetectable in other brain regions tested (hypothalamus was not tested) and in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:9491897}.

Sequence

MNLPSTKVSWAAVTLLLLLLLLPPALLSSGAAAQPLPDCCRQKTCSCRLYELLHGAGNHA
AGILTLGKRRSGPPGLQGRLQRLLQASGNHAAGILTMGRRAGAEPAPRPCLGRRCSAPAA
ASVAPGGQSGI

Sequence length

131

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling		Orexin and neuropeptides FF and QRFP bind to their respective receptors G alpha (q) signalling events

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Narcolepsy 1	Pathogenic	rs104894574	RCV000007726

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
HCRT-related disorder	Likely benign	rs2079922375, rs537376938, rs747632842, rs536458711	RCV003911362 RCV003947406 RCV003947128 RCV003971581

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	38017020
Alzheimer Disease	Associate	11722581
Anxiety	Associate	30718541
Autoimmune Diseases	Associate	24204295
Azoospermia	Associate	30309484
Carcinoma Hepatocellular	Associate	28886081
Cataplexy	Associate	32993765
Death	Associate	36892078
Disorders of Excessive Somnolence	Associate	33547286
Head and Neck Neoplasms	Associate	29682090
Heart Failure	Associate	36892078
Hyperglycemia	Associate	28762874
Hyperphagia	Associate	27518917
Inflammation	Inhibit	35391927
Ischemia	Inhibit	16675942
Laryngeal Neoplasms	Associate	29682090
Mental Disorders	Associate	27518917
Metabolic Syndrome	Associate	24206104
Myelodysplastic Syndromes	Associate	36835307
Myocardial Infarction	Associate	36892078
Myotonic Dystrophy	Associate	18195268
Narcolepsy	Associate	11179016, 16247044, 16453205, 18195268, 22028875, 22326585, 24204295, 24206104, 25197808, 25563321
Narcolepsy 1	Inhibit	25771509, 37122721
Narcolepsy 1	Associate	27821550, 28364420, 30541895, 33547286, 37188663, 37380713
Necrosis	Inhibit	35391927
Neoplasms	Associate	33393495
Neurologic Manifestations	Associate	28762874
Niemann Pick Disease Type C	Associate	32993765
Obesity	Associate	17236194
Oropharyngeal Neoplasms	Associate	29682090
Prader Willi Syndrome	Associate	17236194, 27518917
Sleep Apnea Obstructive	Associate	27509181
Sleep Wake Disorders	Associate	22028875

HCRT (hypocretin neuropeptide precursor)