RBP Type	Non-canonical_RBPs
Diseases	FlavivirusesSARS-COV-2
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	Metabolic enzyme
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000172893	Gene ID	1717	Accession	2860
Symbol	DHCR7	Alias	SLOS	Full Name	7-dehydrocholesterol reductase
Status	Confidence	Length	24676 bases	Strand	Minus strand
Position	11 : 71428193 - 71452868	RNA binding domain	N.A.
Summary	This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
DHCR7-212	ENST00000534795	979	116aa	ENSP00000432256
DHCR7-201	ENST00000355527	2627	475aa	ENSP00000347717
DHCR7-202	ENST00000407721	2601	475aa	ENSP00000384739
DHCR7-218	ENST00000684396	2422	No protein	-
DHCR7-205	ENST00000526780	2850	475aa	ENSP00000435668
DHCR7-204	ENST00000525346	2603	475aa	ENSP00000435707
DHCR7-220	ENST00000690257	2515	443aa	ENSP00000510750
DHCR7-219	ENST00000685320	2287	280aa	ENSP00000509319
DHCR7-213	ENST00000682708	2710	492aa	ENSP00000506866
DHCR7-215	ENST00000683287	2695	487aa	ENSP00000507607
DHCR7-216	ENST00000683714	2645	414aa	ENSP00000508207
DHCR7-210	ENST00000533800	837	221aa	ENSP00000435011
DHCR7-203	ENST00000525137	996	245aa	ENSP00000435956
DHCR7-206	ENST00000527316	1732	417aa	ENSP00000435047
DHCR7-214	ENST00000682880	2472	366aa	ENSP00000507520
DHCR7-211	ENST00000534701	456	No protein	-
DHCR7-217	ENST00000683874	1658	No protein	-
DHCR7-209	ENST00000531364	507	105aa	ENSP00000432589
DHCR7-208	ENST00000529990	525	35aa	ENSP00000435058
DHCR7-207	ENST00000527452	579	91aa	ENSP00000436007

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID
43862	Platelet Function Tests	1.1102230E-015	-
48420	Child Development Disorders, Pervasive	5.2032400E-005	-

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005640	located_in nuclear outer membrane	1	IDA	Homo_sapiens(9606)	Component
GO:0005783	located_in endoplasmic reticulum	1	IDA	Homo_sapiens(9606)	Component
GO:0005789	located_in endoplasmic reticulum membrane	1	TAS	Homo_sapiens(9606)	Component
GO:0006695	involved_in cholesterol biosynthetic process	2	IBA,IMP	Homo_sapiens(9606)	Process
GO:0009918	enables sterol delta7 reductase activity	1	IBA	Homo_sapiens(9606)	Function
GO:0016020	located_in membrane	1	HDA	Homo_sapiens(9606)	Component
GO:0016132	involved_in brassinosteroid biosynthetic process	1	IBA	Homo_sapiens(9606)	Process
GO:0033489	involved_in cholesterol biosynthetic process via desmosterol	1	TAS	Homo_sapiens(9606)	Process
GO:0033490	involved_in cholesterol biosynthetic process via lathosterol	1	TAS	Homo_sapiens(9606)	Process
GO:0047598	enables 7-dehydrocholesterol reductase activity	3	EXP,IBA,IDA	Homo_sapiens(9606)	Function
GO:0050661	enables NADP binding	1	ISS	Homo_sapiens(9606)	Function