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Aliases for HCRTR1 Gene

Aliases for HCRTR1 Gene

  • Hypocretin Receptor 1 2 3 5
  • Hypocretin (Orexin) Receptor 1 2 3
  • Hypocretin Receptor Type 1 3 4
  • Orexin Receptor 1 2 3
  • Ox-1-R 3 4
  • Ox1-R 3 4
  • Orexin Receptor Type 1 3
  • OX1R 3
  • Ox1R 4

External Ids for HCRTR1 Gene

Previous GeneCards Identifiers for HCRTR1 Gene

  • GC01M031859
  • GC01P031069
  • GC01P031509
  • GC01P031753
  • GC01P031857
  • GC01P032083
  • GC01P030200

Summaries for HCRTR1 Gene

Entrez Gene Summary for HCRTR1 Gene

  • The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]

GeneCards Summary for HCRTR1 Gene

HCRTR1 (Hypocretin Receptor 1) is a Protein Coding gene. Diseases associated with HCRTR1 include Rohhad and Narcolepsy. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is HCRTR2.

UniProtKB/Swiss-Prot for HCRTR1 Gene

  • Moderately selective excitatory receptor for orexin-A and, with a lower affinity, for orexin-B neuropeptide (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369).

Tocris Summary for HCRTR1 Gene

  • The OX1 receptors, also known as hypocretin receptor 1, are located primarily in the ventromedial hypothalamus, locus coeruleus, median raphe, hippocampus and taenia tecta where they are thought to regulate sleep-wakefulness and energy homeostasis, particularly food intake.

Gene Wiki entry for HCRTR1 Gene

Additional gene information for HCRTR1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HCRTR1 Gene

Genomics for HCRTR1 Gene

GeneHancer (GH) Regulatory Elements for HCRTR1 Gene

Promoters and enhancers for HCRTR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J031617 Promoter 1.6 EPDnew Ensembl 650.7 +0.3 315 0.8 CTCF ZNF777 KLF17 SIN3A ZNF2 ZBTB7B RAD21 ZNF335 GLIS2 MTA3 HCRTR1 PIR40440 PEF1
GH01J031587 Enhancer 1.2 Ensembl ENCODE dbSUPER 9.7 -28.9 -28858 2.9 CTCF KLF1 TFAP4 USF1 BACH1 EBF1 RBPJ RAD21 HIC1 ZNF121 PEF1 SERINC2 HCRTR1 LOC105378626 TINAGL1
GH01J031594 Enhancer 1 Ensembl ENCODE 8.9 -23.4 -23435 0.3 ELF3 HNRNPUL1 RB1 ARID4B FEZF1 KLF14 ZNF2 IRF4 ZNF48 RAD21 SNRNP40 KHDRBS1 TXLNA KPNA6 PEF1 TSSK3 EIF3I LOC105378626 ENSG00000229447 TMEM39B
GH01J031591 Enhancer 0.8 ENCODE dbSUPER 8.8 -25.7 -25708 1.1 SCRT1 USF1 ZIC2 GLIS2 ZBTB48 ZFP3 GLIS1 PATZ1 SCRT2 PRDM10 PEF1 SERINC2 HCRTR1 LOC105378626
GH01J031595 Enhancer 0.7 ENCODE dbSUPER 8.8 -21.0 -20975 1.6 JUN JUNB CBFA2T3 BATF IRF4 NR2F2 PEF1 TINAGL1 COL16A1 SERINC2 HCRTR1 ADGRB2 LOC105378626
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HCRTR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HCRTR1 gene promoter:
  • HOXA3
  • ZIC2
  • NF-1
  • c-Jun
  • c-Fos
  • AP-1
  • C/EBPalpha
  • RSRFC4
  • LyF-1

Genomic Locations for HCRTR1 Gene

Genomic Locations for HCRTR1 Gene
chr1:31,617,686-31,632,519
(GRCh38/hg38)
Size:
14,834 bases
Orientation:
Plus strand
chr1:32,083,287-32,098,119
(GRCh37/hg19)
Size:
14,833 bases
Orientation:
Plus strand

Genomic View for HCRTR1 Gene

Genes around HCRTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HCRTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HCRTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HCRTR1 Gene

Proteins for HCRTR1 Gene

  • Protein details for HCRTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43613-OX1R_HUMAN
    Recommended name:
    Orexin receptor type 1
    Protein Accession:
    O43613
    Secondary Accessions:
    • A8K3A6
    • Q9HBV6

    Protein attributes for HCRTR1 Gene

    Size:
    425 amino acids
    Molecular mass:
    47536 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The antagonists suvorexant and SB-674042 bind at the cognate neuropeptide binding site that is situated between the transmembrane helices and accessible from the extracellular side of the membrane.

    Three dimensional structures from OCA and Proteopedia for HCRTR1 Gene

neXtProt entry for HCRTR1 Gene

Post-translational modifications for HCRTR1 Gene

  • Glycosylation at isoforms=194
  • Modification sites at PhosphoSitePlus

Other Protein References for HCRTR1 Gene

No data available for DME Specific Peptides for HCRTR1 Gene

Domains & Families for HCRTR1 Gene

Gene Families for HCRTR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for HCRTR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43613

UniProtKB/Swiss-Prot:

OX1R_HUMAN :
  • The N-terminal region is required for orexin signaling.
  • Belongs to the G-protein coupled receptor 1 family.
Domain:
  • The N-terminal region is required for orexin signaling.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with HCRTR1: view

Function for HCRTR1 Gene

Molecular function for HCRTR1 Gene

UniProtKB/Swiss-Prot Function:
Moderately selective excitatory receptor for orexin-A and, with a lower affinity, for orexin-B neuropeptide (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369).
GENATLAS Biochemistry:
hypocretin receptor 1,G protein coupled receptor superfamily,selective for HCRT,isoform A

Phenotypes From GWAS Catalog for HCRTR1 Gene

Gene Ontology (GO) - Molecular Function for HCRTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity TAS 9491897
GO:0016499 orexin receptor activity IDA 26950369
GO:0017046 peptide hormone binding IEA --
GO:0042277 peptide binding IBA --
genes like me logo Genes that share ontologies with HCRTR1: view
genes like me logo Genes that share phenotypes with HCRTR1: view

Animal Models for HCRTR1 Gene

MGI Knock Outs for HCRTR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for HCRTR1

CRISPR Products

miRNA for HCRTR1 Gene

miRTarBase miRNAs that target HCRTR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HCRTR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HCRTR1 Gene

Localization for HCRTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HCRTR1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HCRTR1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HCRTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IDA 26950369
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HCRTR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HCRTR1 Gene

Pathways & Interactions for HCRTR1 Gene

genes like me logo Genes that share pathways with HCRTR1: view

SIGNOR curated interactions for HCRTR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HCRTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007218 neuropeptide signaling pathway IEA,IDA 26950369
GO:0007268 chemical synaptic transmission TAS 9491897
GO:0007631 feeding behavior IBA --
genes like me logo Genes that share ontologies with HCRTR1: view

Drugs & Compounds for HCRTR1 Gene

(38) Drugs for HCRTR1 Gene - From: DrugBank, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Suvorexant Approved, Investigational Pharma Antagonist, Target, antagonist 26
Allopurinol Approved Pharma 154
SB-649868 Experimental, Investigational Pharma Antagonist, antagonist 0
Almorexant Investigational Pharma antagonist OX1R/OX2R antagonist 0
Filorexant Investigational Pharma 0

(8) Additional Compounds for HCRTR1 Gene - From: IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-(2,4-dibromo-phenyl)-3-((4S,5S)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea
Antagonist
ACT-078573
Antagonist
MK-6096
Antagonist
SB 334867
792173-99-0

(5) Tocris Compounds for HCRTR1 Gene

Compound Action Cas Number
ACT 335827 Potent and selective OX1 antagonist 1354039-86-3
OXA (17-33) Potent and selective peptide OX1 agonist 343268-91-7
SB 334867 Selective non-peptide OX1 antagonist 792173-99-0
SB 408124 Selective non-peptide OX1 antagonist 288150-92-5
SB 674042 Potent and selective non-peptide OX1 antagonist 483313-22-0
genes like me logo Genes that share compounds with HCRTR1: view

Transcripts for HCRTR1 Gene

mRNA/cDNA for HCRTR1 Gene

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HCRTR1 Gene

Hypocretin (orexin) receptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HCRTR1

Alternative Splicing Database (ASD) splice patterns (SP) for HCRTR1 Gene

No ASD Table

Relevant External Links for HCRTR1 Gene

GeneLoc Exon Structure for
HCRTR1
ECgene alternative splicing isoforms for
HCRTR1

Expression for HCRTR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HCRTR1 Gene

mRNA differential expression in normal tissues according to GTEx for HCRTR1 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.9) and Thyroid (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of HCRTR1 Gene:

HCRTR1

SOURCE GeneReport for Unigene cluster for HCRTR1 Gene:

Hs.388226

Evidence on tissue expression from TISSUES for HCRTR1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with HCRTR1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HCRTR1 Gene

Orthologs for HCRTR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HCRTR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HCRTR1 34 33
  • 98.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HCRTR1 34 33
  • 91.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HCRTR1 34 33
  • 91.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hcrtr1 16 34 33
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Hcrtr1 33
  • 88.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HCRTR1 34
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 25 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii npffr1l3 34
  • 26 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta NepYr 35
  • 29 (a)
SIFR 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for HCRTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HCRTR1 Gene

ENSEMBL:
Gene Tree for HCRTR1 (if available)
TreeFam:
Gene Tree for HCRTR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HCRTR1: view image

Paralogs for HCRTR1 Gene

Paralogs for HCRTR1 Gene

(9) SIMAP similar genes for HCRTR1 Gene using alignment to 2 proteins:

  • OX1R_HUMAN
  • A6NMV7_HUMAN
genes like me logo Genes that share paralogs with HCRTR1: view

Variants for HCRTR1 Gene

Sequence variations from dbSNP and Humsavar for HCRTR1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000020448 -- 31,627,994(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000041346 -- 31,622,913(+) G/A intron_variant
rs1000094998 -- 31,622,545(+) G/T intron_variant
rs1000235200 -- 31,616,346(+) T/C upstream_transcript_variant
rs1000869305 -- 31,621,798(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HCRTR1 Gene

Variant ID Type Subtype PubMed ID
esv2758930 CNV loss 17122850
nsv1000976 CNV loss 25217958
nsv10062 CNV gain+loss 18304495
nsv470708 CNV loss 18288195
nsv545951 CNV gain 21841781

Variation tolerance for HCRTR1 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.57; 94.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HCRTR1 Gene

Human Gene Mutation Database (HGMD)
HCRTR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HCRTR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HCRTR1 Gene

Disorders for HCRTR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HCRTR1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rohhad
  • rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
narcolepsy
  • narcolepsy, without cataplexy
hallucinogen dependence
sleep disorder
  • non-organic sleep disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HCRTR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HCRTR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HCRTR1 Gene

Publications for HCRTR1 Gene

  1. The orexin 1 receptor (HCRTR1) gene as a susceptibility gene contributing to polydipsia-hyponatremia in schizophrenia. (PMID: 17999203) Fukunaka Y … Nakamura J (Neuromolecular medicine 2007) 3 22 44 58
  2. Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects. (PMID: 15978554) Meerabux J … Yoshikawa T (Biological psychiatry 2005) 3 22 44 58
  3. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. (PMID: 10973318) Peyron C … Mignot E (Nature medicine 2000) 3 4 22 58
  4. Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. (PMID: 9491897) Sakurai T … Yanagisawa M (Cell 1998) 2 3 4 58
  5. Structure and ligand-binding mechanism of the human OX1 and OX2 orexin receptors. (PMID: 26950369) Yin J … Rosenbaum DM (Nature structural & molecular biology 2016) 3 4 58

Products for HCRTR1 Gene

Sources for HCRTR1 Gene

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