Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	OXCT1
Previous Symbol	OXCT
Symbol Alias	SCOT
Approved Name	3-oxoacid CoA transferase 1
Previous Name	3-oxoacid CoA transferase
Location	5p13
Position	chr5:41730065-41870519, -1
External Links	HGNC: 8527 Entrez Gene: 5019 Ensembl: ENSG00000083720 UCSC: uc003jmn.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Jamain, S., 2014	SNP: rs10512793, rs822135, rs625487, rs633407 Haplotype: rs624097 - rs316762 - rs10512793()	Significant association of SNP in this gene with BD was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007420	brain development	biological process	IEA	25

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005739	mitochondrion	cellular component	IDA; NAS[10964512]	75
GO:0005759	mitochondrial matrix	cellular component	TAS	11
GO:0045471	response to ethanol	biological process	IEA	24
GO:0060612	adipose tissue development	biological process	IEA	5
GO:0042182	ketone catabolic process	biological process	IEA	1
GO:0044255	cellular lipid metabolic process	biological process	TAS	13
GO:0042803	protein homodimerization activity	molecular function	NAS[10964512]	71
GO:0042493	response to drug	biological process	IEA	57
GO:0007507	heart development	biological process	IEA	20
GO:0042594	response to starvation	biological process	IEA	8
GO:0046950	cellular ketone body metabolic process	biological process	IMP[9671268]; TAS	2
GO:0007584	response to nutrient	biological process	IEA	10
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0008260	3-oxoacid CoA-transferase activity	molecular function	IMP[10964512]; TAS	1
GO:0014823	response to activity	biological process	IEA	11
GO:0046952	ketone body catabolic process	biological process	TAS	2
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	biological process	IEA	4
GO:0009725	response to hormone	biological process	IEA	4

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene
hsa00280	Valine, leucine and isoleucine degradation	4
hsa00072	Synthesis and degradation of ketone bodies	2
hsa00650	Butanoate metabolism	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10512793	chr5:41751600 - 41751600(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)
rs822135	chr5:41555056 - 41555056(1)		1(0/0/1)
rs625487	chr5:41561271 - 41561271(1)		1(1/0/0)
rs633407	chr5:41571207 - 41571207(1)		1(1/0/0)

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)
Chr 5	chr5:0-181538259	3 (0/2/1)
5p13.1-5q12.3	chr5:38400000-67400000	1 (0/1/0)
5p13.3-q13.3	chr5:28900000-77600000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr5:41730065..41870519 View in gBrowse