GenTIGS

Fibrillin 1 (FBN1) Associated conditions: 1. Hirschsprung disease 2. Perrault syndrome 1 3. Congenital diaphragmatic hernia 4. Arthrogryposis, renal dysfunction, and cholestasis 1 5. Weill-Marchesani syndrome 6. Marfan syndrome 7. Congenital contractural arachnodactyly

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_000138.5	NP_000129.3	NC_000015.10	(48408312..48645708, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001406716.1	NP_001393645.1	NC_000015.10	(48408312..48645708, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001406717.1	NP_001393646.1	NC_000015.10	(48408312..48645708, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001406718.1	NP_001393647.1	NC_000015.10	(48408312..48645708, 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 1523 reference articles

Variant Information Fibrillin 1 (FBN1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Fibrillin 1 (FBN1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Fibrillin 1 (FBN1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	skeletal system development	Process	8188302
2	Homo sapiens	IEA	involved_in	angiogenesis	Process	-
3	Homo sapiens	IDA	located_in	microfibril	Component	1860873 3536967 7534784 8120105 10424889 12429738 22355679
4	Homo sapiens	IEA	located_in	microfibril	Component	-
5	Homo sapiens	IEA	involved_in	metanephros development	Process	-
6	Homo sapiens	IEA	involved_in	kidney development	Process	-
7	Homo sapiens	IPI	enables	integrin binding	Function	12807887 15062093 17158881
8	Homo sapiens	IBA	enables	hormone activity	Function	-
9	Homo sapiens	IDA	enables	hormone activity	Function	27087445 31230984
10	Homo sapiens	IEA	enables	hormone activity	Function	-
11	Homo sapiens	IBA	enables	extracellular matrix structural constituent	Function	-
12	Homo sapiens	IDA	enables	extracellular matrix structural constituent	Function	3536967
13	Homo sapiens	RCA	enables	extracellular matrix structural constituent	Function	20551380 23979707 25037231 27559042 28327460 28675934
14	Homo sapiens	IDA	enables	calcium ion binding	Function	7691719 15062093
15	Homo sapiens	IEA	enables	calcium ion binding	Function	-
16	Homo sapiens	IPI	enables	protein binding	Function	12429738 15131124 15165854 15790312 17293099 18339631 19349279 19570982 21402694 22355679 24039232 25034023 26601954 32296183
17	Homo sapiens	HDA	located_in	extracellular region	Component	27068509
18	Homo sapiens	IBA	is_active_in	extracellular region	Component	-
19	Homo sapiens	IDA	located_in	extracellular region	Component	11461921 34411563
20	Homo sapiens	IEA	located_in	extracellular region	Component	-
21	Homo sapiens	TAS	located_in	extracellular region	Component	-
22	Homo sapiens	IDA	located_in	basement membrane	Component	3536967
23	Homo sapiens	HDA	located_in	extracellular space	Component	20551380
24	Homo sapiens	IDA	located_in	extracellular space	Component	3536967 27087445
25	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
26	Homo sapiens	IBA	involved_in	glucose metabolic process	Process	-
27	Homo sapiens	IDA	involved_in	glucose metabolic process	Process	27087445
28	Homo sapiens	IEA	involved_in	inflammatory response	Process	-
29	Homo sapiens	IEA	involved_in	immune response	Process	-
30	Homo sapiens	IEA	involved_in	response to oxidative stress	Process	-
31	Homo sapiens	IEA	involved_in	signal transduction	Process	-
32	Homo sapiens	IDA	involved_in	adenylate cyclase-activating G protein-coupled receptor signaling pathway	Process	27087445
33	Homo sapiens	IMP	involved_in	heart development	Process	15781745
34	Homo sapiens	IEA	involved_in	intracellular protein localization	Process	-
35	Homo sapiens	IDA	enables	heparin binding	Function	11461921
36	Homo sapiens	IEA	enables	heparin binding	Function	-
37	Homo sapiens	IEA	involved_in	response to xenobiotic stimulus	Process	-
38	Homo sapiens	IEA	involved_in	response to mechanical stimulus	Process	-
39	Homo sapiens	IEA	involved_in	gene expression	Process	-
40	Homo sapiens	ISO	involved_in	gene expression	Process	20182440
41	Homo sapiens	IC	enables	extracellular matrix constituent conferring elasticity	Function	8120105
42	Homo sapiens	IEA	enables	extracellular matrix constituent conferring elasticity	Function	-
43	Homo sapiens	ISO	involved_in	collagen fibril organization	Process	20182440
44	Homo sapiens	IEA	involved_in	lung development	Process	-
45	Homo sapiens	IEA	involved_in	negative regulation of transforming growth factor beta receptor signaling pathway	Process	-
46	Homo sapiens	ISS	involved_in	negative regulation of transforming growth factor beta receptor signaling pathway	Process	-
47	Homo sapiens	IEA	involved_in	negative regulation of BMP signaling pathway	Process	-
48	Homo sapiens	ISS	involved_in	negative regulation of BMP signaling pathway	Process	-
49	Homo sapiens	HDA	colocalizes_with	extracellular matrix	Component	20551380
50	Homo sapiens	HDA	located_in	extracellular matrix	Component	23658023 23979707 25037231 27559042 28327460 28675934
51	Homo sapiens	IBA	is_active_in	extracellular matrix	Component	-
52	Homo sapiens	IDA	located_in	extracellular matrix	Component	3536967
53	Homo sapiens	IEA	located_in	extracellular matrix	Component	-
54	Homo sapiens	ISS	involved_in	positive regulation of appetite	Process	-
55	Homo sapiens	IEA	involved_in	response to ATP	Process	-
56	Homo sapiens	IDA	involved_in	cell adhesion mediated by integrin	Process	12807887 17158881
57	Homo sapiens	IEA	involved_in	vasodilation	Process	-
58	Homo sapiens	IBA	involved_in	glucose homeostasis	Process	-
59	Homo sapiens	IDA	involved_in	glucose homeostasis	Process	27087445
60	Homo sapiens	IPI	enables	identical protein binding	Function	18448684 24035709 25034023
61	Homo sapiens	IEA	involved_in	camera-type eye development	Process	-
62	Homo sapiens	IEP	involved_in	camera-type eye development	Process	25406291
63	Homo sapiens	IEA	involved_in	skin development	Process	-
64	Homo sapiens	IPI	enables	protein-containing complex binding	Function	15062093
65	Homo sapiens	IEA	involved_in	endothelial cell differentiation	Process	-
66	Homo sapiens	IDA	involved_in	negative regulation of osteoclast differentiation	Process	24039232
67	Homo sapiens	IEA	involved_in	negative regulation of osteoclast differentiation	Process	-
68	Homo sapiens	IEA	involved_in	embryonic eye morphogenesis	Process	-
69	Homo sapiens	IEP	involved_in	embryonic eye morphogenesis	Process	25406291
70	Homo sapiens	IEP	involved_in	post-embryonic eye morphogenesis	Process	25406291
71	Homo sapiens	IEA	involved_in	elastic fiber assembly	Process	-
72	Homo sapiens	IEA	involved_in	lung alveolus development	Process	-
73	Homo sapiens	IEA	involved_in	triglyceride homeostasis	Process	-
74	Homo sapiens	IEA	involved_in	cellular response to transforming growth factor beta stimulus	Process	-
75	Homo sapiens	IEA	involved_in	response to nitric oxide	Process	-
76	Homo sapiens	IEA	involved_in	regulation of plasma lipoprotein particle levels	Process	-
77	Homo sapiens	IEA	involved_in	response to peptide	Process	-
78	Homo sapiens	IEA	involved_in	response to acetylcholine	Process	-
79	Homo sapiens	IEA	involved_in	cellular response to insulin-like growth factor stimulus	Process	-
80	Homo sapiens	IDA	involved_in	negative regulation of osteoclast development	Process	24039232
81	Homo sapiens	IEA	involved_in	negative regulation of osteoclast development	Process	-