GenTIGS

Cytochrome P450 family 1 subfamily B member 1 (CYP1B1) Associated conditions: 1. Congenital glaucoma 2. Irido-corneo-trabecular dysgenesis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000104.4	NP_000095.2	NC_000002.12	(38067508..38076150, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1591 reference articles

Variant Information Cytochrome P450 family 1 subfamily B member 1 (CYP1B1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Cytochrome P450 family 1 subfamily B member 1 (CYP1B1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	trabecular meshwork development	Process	-
2	Homo sapiens	ISS	involved_in	trabecular meshwork development	Process	-
3	Homo sapiens	IDA	enables	monooxygenase activity	Function	15258110 23821647
4	Homo sapiens	IEA	enables	monooxygenase activity	Function	-
5	Homo sapiens	TAS	enables	monooxygenase activity	Function	-
6	Homo sapiens	IEA	enables	iron ion binding	Function	-
7	Homo sapiens	IPI	enables	protein binding	Function	28620713
8	Homo sapiens	IBA	is_active_in	mitochondrion	Component	-
9	Homo sapiens	IEA	located_in	mitochondrion	Component	-
10	Homo sapiens	ISS	located_in	mitochondrion	Component	-
11	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
12	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
13	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
14	Homo sapiens	IEA	involved_in	fatty acid metabolic process	Process	-
15	Homo sapiens	IBA	involved_in	steroid catabolic process	Process	-
16	Homo sapiens	IDA	involved_in	xenobiotic metabolic process	Process	22888116
17	Homo sapiens	NAS	involved_in	xenobiotic metabolic process	Process	16982751
18	Homo sapiens	IEA	involved_in	nitric oxide biosynthetic process	Process	-
19	Homo sapiens	ISS	involved_in	nitric oxide biosynthetic process	Process	-
20	Homo sapiens	IEA	involved_in	cell adhesion	Process	-
21	Homo sapiens	ISS	involved_in	cell adhesion	Process	-
22	Homo sapiens	IDA	involved_in	steroid metabolic process	Process	22888116
23	Homo sapiens	IEA	involved_in	steroid metabolic process	Process	-
24	Homo sapiens	IBA	involved_in	estrogen metabolic process	Process	-
25	Homo sapiens	IDA	involved_in	estrogen metabolic process	Process	11555828 12865317 23821647
26	Homo sapiens	IEA	involved_in	estrogen metabolic process	Process	-
27	Homo sapiens	IEA	involved_in	negative regulation of cell population proliferation	Process	-
28	Homo sapiens	ISS	involved_in	negative regulation of cell population proliferation	Process	-
29	Homo sapiens	IBA	enables	steroid hydroxylase activity	Function	-
30	Homo sapiens	IEA	enables	steroid hydroxylase activity	Function	-
31	Homo sapiens	IEA	involved_in	intrinsic apoptotic signaling pathway in response to oxidative stress	Process	-
32	Homo sapiens	ISS	involved_in	intrinsic apoptotic signaling pathway in response to oxidative stress	Process	-
33	Homo sapiens	IBA	involved_in	toxin metabolic process	Process	-
34	Homo sapiens	IEA	involved_in	positive regulation of vascular endothelial growth factor production	Process	-
35	Homo sapiens	ISS	involved_in	positive regulation of vascular endothelial growth factor production	Process	-
36	Homo sapiens	IEA	involved_in	lipid catabolic process	Process	-
37	Homo sapiens	ISS	involved_in	lipid catabolic process	Process	-
38	Homo sapiens	TAS	involved_in	sterol metabolic process	Process	-
39	Homo sapiens	IEA	enables	oxidoreductase activity	Function	-
40	Homo sapiens	IEA	enables	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	Function	-
41	Homo sapiens	TAS	enables	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	Function	-
42	Homo sapiens	IBA	enables	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	Function	-
43	Homo sapiens	IDA	enables	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	Function	10871058
44	Homo sapiens	IEA	enables	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	Function	-
45	Homo sapiens	IEA	enables	lyase activity	Function	-
46	Homo sapiens	IDA	involved_in	arachidonate metabolic process	Process	15258110
47	Homo sapiens	IEA	involved_in	arachidonate metabolic process	Process	-
48	Homo sapiens	TAS	involved_in	epoxygenase P450 pathway	Process	-
49	Homo sapiens	IDA	enables	heme binding	Function	21147782
50	Homo sapiens	IEA	enables	heme binding	Function	-
51	Homo sapiens	IEA	involved_in	collagen fibril organization	Process	-
52	Homo sapiens	ISS	involved_in	collagen fibril organization	Process	-
53	Homo sapiens	IEA	involved_in	negative regulation of cell migration	Process	-
54	Homo sapiens	ISS	involved_in	negative regulation of cell migration	Process	-
55	Homo sapiens	IEA	involved_in	negative regulation of cell adhesion mediated by integrin	Process	-
56	Homo sapiens	ISS	involved_in	negative regulation of cell adhesion mediated by integrin	Process	-
57	Homo sapiens	IBA	involved_in	xenobiotic catabolic process	Process	-
58	Homo sapiens	IEA	involved_in	hormone metabolic process	Process	-
59	Homo sapiens	IDA	involved_in	retinol metabolic process	Process	10681376 15258110
60	Homo sapiens	IEA	involved_in	retinol metabolic process	Process	-
61	Homo sapiens	IDA	involved_in	retinal metabolic process	Process	15258110
62	Homo sapiens	IEA	involved_in	retinal metabolic process	Process	-
63	Homo sapiens	IEA	involved_in	positive regulation of apoptotic process	Process	-
64	Homo sapiens	ISS	involved_in	positive regulation of apoptotic process	Process	-
65	Homo sapiens	ISS	involved_in	endothelial cell migration	Process	-
66	Homo sapiens	IEA	involved_in	positive regulation of angiogenesis	Process	-
67	Homo sapiens	ISS	involved_in	positive regulation of angiogenesis	Process	-
68	Homo sapiens	IEA	involved_in	positive regulation of receptor signaling pathway via JAK-STAT	Process	-
69	Homo sapiens	ISS	involved_in	positive regulation of receptor signaling pathway via JAK-STAT	Process	-
70	Homo sapiens	IEA	enables	metal ion binding	Function	-
71	Homo sapiens	IEA	involved_in	blood vessel morphogenesis	Process	-
72	Homo sapiens	ISS	involved_in	blood vessel morphogenesis	Process	-
73	Homo sapiens	IEA	enables	testosterone 6-beta-hydroxylase activity	Function	-
74	Homo sapiens	IEA	involved_in	retinal blood vessel morphogenesis	Process	-
75	Homo sapiens	ISS	involved_in	retinal blood vessel morphogenesis	Process	-
76	Homo sapiens	IEA	involved_in	cellular response to hydrogen peroxide	Process	-
77	Homo sapiens	ISS	involved_in	cellular response to hydrogen peroxide	Process	-
78	Homo sapiens	TAS	involved_in	omega-hydroxylase P450 pathway	Process	-
79	Homo sapiens	IDA	enables	estrogen 16-alpha-hydroxylase activity	Function	11555828
80	Homo sapiens	IEA	enables	estrogen 2-hydroxylase activity	Function	-
81	Homo sapiens	IEA	enables	hydroperoxy icosatetraenoate dehydratase activity	Function	-
82	Homo sapiens	IEA	involved_in	olefinic compound metabolic process	Process	-
83	Homo sapiens	IEA	involved_in	regulation of reactive oxygen species metabolic process	Process	-
84	Homo sapiens	ISS	involved_in	regulation of reactive oxygen species metabolic process	Process	-