EuRBPDB

Description

Ensembl ID: ENSG00000100243 (Gene tree)
Gene ID: 1727
Gene Symbol: CYB5R3
Alias: DIA1
Full Name: cytochrome b5 reductase 3
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 31,729 bases
Position: chr22:42,617,840-42,649,568
Accession: 2873
RBP type: non-canonical RBP
Summary: This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000361740	CYB5R3-202	2938	-	ENSP00000354468	334 (aa)	-	P00387
ENST00000407623	CYB5R3-205	2153	-	ENSP00000384834	278 (aa)	-	P00387
ENST00000466276	CYB5R3-207	581	-	-	- (aa)	-	-
ENST00000438270	CYB5R3-206	675	-	ENSP00000403439	147 (aa)	-	B1AHF3
ENST00000402438	CYB5R3-203	1050	-	ENSP00000385679	278 (aa)	-	P00387
ENST00000470741	CYB5R3-208	3938	-	-	- (aa)	-	-
ENST00000352397	CYB5R3-201	2124	-	ENSP00000338461	301 (aa)	-	P00387
ENST00000407332	CYB5R3-204	1849	-	ENSP00000384457	278 (aa)	-	P00387

Gene Model

Pathways

Pathway ID	Pathway Name	Source
hsa00520	Amino sugar and nucleotide sugar metabolism	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000100243	Heart Rate	7.512e-005	-

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000100243	rs61743746	22	42619781	T	Initial pursuit acceleration	29064472			EFO_0008434
ENSG00000100243	rs3091344	22	42632475	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000100243	CYB5R3	100	89.796	ENSMUSG00000018042	Cyb5r3	100	88.129	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	-	IEA	Function
GO:0005515	protein binding	23123858.	IPI	Function
GO:0005576	extracellular region	-	TAS	Component
GO:0005737	cytoplasm	9207238.	TAS	Component
GO:0005739	mitochondrion	20833797.	HDA	Component
GO:0005741	mitochondrial outer membrane	-	TAS	Component
GO:0005783	endoplasmic reticulum	-	IDA	Component
GO:0005789	endoplasmic reticulum membrane	-	IEA	Component
GO:0005811	lipid droplet	14741744.	IDA	Component
GO:0005833	hemoglobin complex	1400360.	TAS	Component
GO:0006695	cholesterol biosynthetic process	-	IEA	Process
GO:0006805	xenobiotic metabolic process	-	TAS	Process
GO:0008015	blood circulation	1400360.	TAS	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0016208	AMP binding	-	IEA	Function
GO:0019852	L-ascorbic acid metabolic process	-	TAS	Process
GO:0035578	azurophil granule lumen	-	TAS	Component
GO:0043312	neutrophil degranulation	-	TAS	Process
GO:0043531	ADP binding	-	IEA	Function
GO:0051287	NAD binding	-	IEA	Function
GO:0055114	oxidation-reduction process	-	IEA	Process
GO:0071949	FAD binding	21873635.	IBA	Function