Hs01623428_cn

• Gene Symbol: SREBF1
• Assay Reference Genome Location: Chr.17:17812416 on build GRCh38
• Cytoband: 17p11.2

Target Gene Details

• Entrez Gene ID: 6720
• Gene Name: sterol regulatory element binding transcription factor 1
• Gene Aliases: SREBP-1c, SREBP1, SREBP1a, bHLHd1
• Location: Chr.17:17811349-17837017 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SREBF1	NM_001005291.2	20	3934	NP_001005291.1
	NM_001321096.2	19	3706	NP_001308025.1
	NM_004176.4	19	3844	NP_004167.3
	XM_005256772.4	19	3844	XP_005256829.1
	XM_017024970.1	17	3275	XP_016880459.1
	XM_017024971.1	15	2626	XP_016880460.1
	AB209609.1	18	4310	BAD92846.1
	AK091131.1	19	3673
	AK095325.1	14	2683
	AK128320.1	17	3353
	AK293795.1	19	3544
	AK294800.1	20	3522
	AK297113.1	17	3258
	BC023621.2	13	2268	AAH23621.1
	BC026962.1	13	2460	AAH26962.1
	BC057388.1	19	3835	AAH57388.1
	BC063281.1	20	3909	AAH63281.1
	BE208013.1	1	351
	U00968.1	19	3816	AAC50051.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2659754	Chr.17:17806631 - 17812878 on Build GRCh38	Deletion	RAI1 SREBF1
nsv953838	Chr.17:17700587 - 17819486 on Build GRCh38	Deletion	RAI1 MIR33B SMCR5 MIR6777 RAI1-AS1 SREBF1
nsv522668	Chr.17:17716545 - 17849495 on Build GRCh38	Loss	RAI1 MIR33B SMCR5 MIR6777 RAI1-AS1 TOM1L2 SREBF1
nsv833385	Chr.17:17690723 - 17862264 on Build GRCh38	Loss	RAI1 MIR33B SMCR5 LOC100507131 MIR6777 RAI1-AS1 TOM1L2 SREBF1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
regulation of heart rate by chemical signal
regulation of transcription from RNA polymerase II promoter
lipid metabolic process
aging
circadian rhythm
cholesterol metabolic process
insulin receptor signaling pathway
lipid biosynthetic process
cellular response to starvation
response to glucose
positive regulation of triglyceride biosynthetic process
regulation of fatty acid metabolic process
lung development
positive regulation of histone deacetylation
regulation of protein stability
response to food
response to retinoic acid
response to progesterone
response to glucagon
response to drug
mRNA transcription from RNA polymerase II promoter
fat cell differentiation
positive regulation of cholesterol biosynthetic process
positive regulation of transcription from RNA polymerase II promoter
negative regulation of insulin secretion
response to cAMP
cellular response to fatty acid
regulation of mitophagy
regulation of protein targeting to mitochondrion

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein binding
protein kinase binding
protein complex binding
sterol response element binding
protein dimerization activity