Gene Report

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Basic Info

Approved Symbol	HCRTR1
Symbol Alias	OX1R
Approved Name	hypocretin (orexin) receptor 1
Location	1p33
Position	chr1:31617686-31632518, 1
External Links	HGNC: 4848 Entrez Gene: 3061 Ensembl: ENSG00000121764 UCSC: uc009vtx.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gratacos, M.,2009	SNP: rs10914453	Nominal associations with bipolar disorder was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS[9491897]	116
GO:0005887	integral component of plasma membrane	cellular component	TAS[9491897]	158
GO:0008188	neuropeptide receptor activity	molecular function	IBA	5
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0042277	peptide binding	molecular function	IBA	11
GO:1901652	response to peptide	biological process	IBA	5
GO:0017046	peptide hormone binding	molecular function	IEA	4
GO:0016499	orexin receptor activity	molecular function	IBA	2
GO:0045187	regulation of circadian sleep/wake cycle, sleep	biological process	IBA	4
GO:0007631	feeding behavior	biological process	IEA	12
GO:0032870	cellular response to hormone stimulus	biological process	IBA	9
GO:0004930	G-protein coupled receptor activity	molecular function	TAS[9491897]	26
GO:0007218	neuropeptide signaling pathway	biological process	IEA	18

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HCRTR1	HCRT	NO	in vitro;in vivo	9491897
HCRTR1	CNR1	YES	in vivo	12690115

Related other genetic factors

Gene related SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10914453	chr1:31609435 - 31609435(1)		1(1/0/0)

rs_ID	Location	Functional Annotation
rs10914458	chr1:31631145 - 31631145(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2271933	chr1:31626924 - 31626924(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_variant
rs871634	chr1:31627566 - 31627566(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs6663012	chr1:31626178 - 31626178(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4949449	chr1:31622933 - 31622933(1)	intron_variant; non_coding_transcript_variant
rs10798880	chr1:31631487 - 31631487(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs10914456	chr1:31622570 - 31622570(1)	intron_variant; non_coding_transcript_variant
rs2280386	chr1:31621311 - 31621311(1)	intron_variant; non_coding_transcript_variant
rs10753257	chr1:31620488 - 31620488(1)	intron_variant; non_coding_transcript_variant
rs968335	chr1:31620175 - 31620175(1)	intron_variant; non_coding_transcript_variant
rs3753612	chr1:31616809 - 31616809(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p35-p36	chr1:0-34300000	1 (1/0/0)
1p33-p36	chr1:0-50200000	1 (0/0/1)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
21071097	we found a significant association between HCRTR1 haplotypes and the disease (permutation p<0.0001)	Pos	HCRTR1
21211849	There was a measurable difference between Orexin A expression on admission in comparison to the Orexin mRNA expression in the healthy control group (T=1.53; df=39; p=0.135) that failed to reach statistical significance.	Pos	HCRTR1

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Region: chr1:31617686..31632518 View in gBrowse