GenTIGS

Patched 1 (PTCH1) Associated conditions: 1. Irido-corneo-trabecular dysgenesis 2. Hereditary breast ovarian cancer syndrome 3. Gorlin syndrome 4. Neuroblastoma

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_000264.5	NP_000255.2	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
2	REVIEWED	NM_001083602.3	NP_001077071.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
3	REVIEWED	NM_001083603.3	NP_001077072.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
4	REVIEWED	NM_001083604.3	NP_001077073.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
5	REVIEWED	NM_001083605.3	NP_001077074.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
6	REVIEWED	NM_001083606.3	NP_001077075.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
7	REVIEWED	NM_001083607.3	NP_001077076.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
8	REVIEWED	NM_001354918.2	NP_001341847.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
9	REVIEWED	NM_001354919.2	NP_001341848.1	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635
10	REVIEWED	NR_149061.2	-	NC_000009.12	(95442979..95516970, complement)	Reference GRCh38.p14 Primary Assembly	Q13635

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 1322 reference articles

Variant Information Patched 1 (PTCH1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Patched 1 (PTCH1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Patched 1 (PTCH1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	negative regulation of transcription by RNA polymerase II	Process	16229683
2	Homo sapiens	IEA	involved_in	neural tube formation	Process	-
3	Homo sapiens	IEA	enables	patched binding	Function	-
4	Homo sapiens	IBA	enables	smoothened binding	Function	-
5	Homo sapiens	IEA	enables	smoothened binding	Function	-
6	Homo sapiens	IPI	enables	smoothened binding	Function	9811851 11278759
7	Homo sapiens	IPI	enables	protein binding	Function	19502428 19561609 21802063 25283809 29954986 29995851 30139912 32296183 32814053
8	Homo sapiens	IDA	colocalizes_with	Golgi apparatus	Component	11278759
9	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
10	Homo sapiens	IDA	located_in	plasma membrane	Component	11278759 12635140
11	Homo sapiens	IEA	located_in	plasma membrane	Component	-
12	Homo sapiens	IDA	located_in	caveola	Component	11278759
13	Homo sapiens	IEA	located_in	cilium	Component	-
14	Homo sapiens	IEA	involved_in	signal transduction	Process	-
15	Homo sapiens	IEA	involved_in	spermatid development	Process	-
16	Homo sapiens	IEA	involved_in	brain development	Process	-
17	Homo sapiens	ISS	involved_in	brain development	Process	-
18	Homo sapiens	IBA	enables	hedgehog receptor activity	Function	-
19	Homo sapiens	IEA	enables	hedgehog receptor activity	Function	-
20	Homo sapiens	IEA	enables	heparin binding	Function	-
21	Homo sapiens	ISS	involved_in	regulation of smoothened signaling pathway	Process	-
22	Homo sapiens	IEA	involved_in	response to xenobiotic stimulus	Process	-
23	Homo sapiens	IEA	involved_in	response to mechanical stimulus	Process	-
24	Homo sapiens	ISS	involved_in	animal organ morphogenesis	Process	-
25	Homo sapiens	ISS	involved_in	dorsal/ventral pattern formation	Process	-
26	Homo sapiens	IDA	involved_in	positive regulation of cholesterol efflux	Process	21931618
27	Homo sapiens	IDA	enables	cholesterol binding	Function	21931618
28	Homo sapiens	IEA	located_in	membrane	Component	-
29	Homo sapiens	ISS	involved_in	protein processing	Process	-
30	Homo sapiens	IMP	involved_in	neural tube patterning	Process	8681379
31	Homo sapiens	IEA	involved_in	neural plate axis specification	Process	-
32	Homo sapiens	ISS	involved_in	neural plate axis specification	Process	-
33	Homo sapiens	ISS	involved_in	embryonic limb morphogenesis	Process	-
34	Homo sapiens	IEA	enables	cyclin binding	Function	-
35	Homo sapiens	IPI	enables	cyclin binding	Function	11331587
36	Homo sapiens	IEA	located_in	midbody	Component	-
37	Homo sapiens	TAS	located_in	endocytic vesicle membrane	Component	-
38	Homo sapiens	IEA	involved_in	prostate gland development	Process	-
39	Homo sapiens	IEA	involved_in	response to estradiol	Process	-
40	Homo sapiens	IEA	involved_in	response to retinoic acid	Process	-
41	Homo sapiens	IEA	involved_in	regulation of protein localization	Process	-
42	Homo sapiens	IMP	involved_in	limb morphogenesis	Process	8681379
43	Homo sapiens	ISS	involved_in	negative regulation of multicellular organism growth	Process	-
44	Homo sapiens	IEA	involved_in	response to alkaloid	Process	-
45	Homo sapiens	IEA	located_in	dendritic growth cone	Component	-
46	Homo sapiens	IEA	located_in	axonal growth cone	Component	-
47	Homo sapiens	IEA	enables	protein-containing complex binding	Function	-
48	Homo sapiens	IDA	located_in	apical part of cell	Component	17850284
49	Homo sapiens	IEA	is_active_in	postsynaptic membrane	Component	-
50	Homo sapiens	IMP	involved_in	negative regulation of osteoblast differentiation	Process	16229683
51	Homo sapiens	IBA	involved_in	negative regulation of smoothened signaling pathway	Process	-
52	Homo sapiens	ISS	involved_in	negative regulation of smoothened signaling pathway	Process	-
53	Homo sapiens	TAS	involved_in	negative regulation of smoothened signaling pathway	Process	11001584
54	Homo sapiens	IEA	involved_in	negative regulation of DNA-templated transcription	Process	-
55	Homo sapiens	IEA	involved_in	positive regulation of DNA-templated transcription	Process	-
56	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	11278759
57	Homo sapiens	IEP	involved_in	smooth muscle tissue development	Process	17850284
58	Homo sapiens	IEA	involved_in	negative regulation of cell division	Process	-
59	Homo sapiens	IMP	involved_in	pharyngeal system development	Process	8681379 8981943
60	Homo sapiens	TAS	located_in	ciliary membrane	Component	-
61	Homo sapiens	IEA	involved_in	somite development	Process	-
62	Homo sapiens	IMP	involved_in	somite development	Process	8681379
63	Homo sapiens	IEA	involved_in	cellular response to cholesterol	Process	-
64	Homo sapiens	IMP	involved_in	cellular response to cholesterol	Process	11278759
65	Homo sapiens	ISS	involved_in	cellular response to cholesterol	Process	-
66	Homo sapiens	IEA	involved_in	commissural neuron axon guidance	Process	-
67	Homo sapiens	IEP	involved_in	metanephric collecting duct development	Process	17850284
68	Homo sapiens	IDA	involved_in	protein localization to plasma membrane	Process	11278759
69	Homo sapiens	IBA	enables	hedgehog family protein binding	Function	-
70	Homo sapiens	IEA	enables	hedgehog family protein binding	Function	-
71	Homo sapiens	IPI	enables	hedgehog family protein binding	Function	9811851
72	Homo sapiens	IEA	involved_in	liver regeneration	Process	-