PTCH1

GENE INFORMATION

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Gene name

PTCH1 (HGNC Symbol)

Synonyms

BCNS, NBCCS, PTCH

Description

Patched 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]

Chromosome

9

Cytoband

q22.32

Chromosome location (bp)

95442980 - 95517057

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185920 (version 78.38)

Entrez gene

5727

UniProt

Q13635 (UniProt - Evidence at protein level)

neXtProt

NX_Q13635

Antibodypedia

PTCH1 antibodies
 

PROTEIN VIEW

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 « 
 
PTCH1-001
 
PTCH1-002
 
PTCH1-003
 
PTCH1-005
 
PTCH1-006
 
PTCH1-007
 
PTCH1-009
 
PTCH1-010
 
PTCH1-011
 
PTCH1-012
 
PTCH1-019
 
PTCH1-020
 
PTCH1-201
 
PTCH1-202
 
PTCH1-203
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PTCH1-001 ENSP00000332353
ENST00000331920
Q13635
Show all »
Show » Show » 1447 160.5 No >9
PTCH1-002 ENSP00000414823
ENST00000429896
Q13635
Show all »
Show » Show » 1296 144.4 No >9
PTCH1-003 ENSP00000410287
ENST00000430669
Q13635
Show all »
Show » Show » 1381 153.9 No >9
PTCH1-005 ENSP00000364420
ENST00000375271
H0Y3B8
Show all »
Show » Show » 352 39.3 No 3
PTCH1-006 ENSP00000449745
ENST00000468211
Q13635
Show all »
Show » Show » 183 20.8 No 0
PTCH1-007 ENSP00000364423
ENST00000375274
Q13635
Show all »
Show » Show » 1446 161 No >9
PTCH1-009 ENSP00000447878
ENST00000547672
Q13635
Show all »
Show » Show » 174 19.9 No 0
PTCH1-010 ENSP00000448843
ENST00000546820
Q13635
Show all »
Show » Show » 174 19.9 No 0
PTCH1-011 ENSP00000447008
ENST00000551845
Q13635
Show all »
Show » Show » 174 19.9 No 0
PTCH1-012 ENSP00000447797
ENST00000553011
Q13635
Show all »
Show » Show » 174 19.9 No 0
PTCH1-019 ENSP00000449078
ENST00000548420
F8VXL8
Show all »
Show » 67 7.3 No 0
PTCH1-020 ENSP00000450131
ENST00000551630
F8VQS6
Show all »
Show » 92 10.7 No 0
PTCH1-201 ENSP00000396135
ENST00000418258
Q13635
Show all »
Show » Show » 1296 144.4 No >9
PTCH1-202 ENSP00000399981
ENST00000421141
Q13635
Show all »
Show » Show » 1296 144.4 No >9
PTCH1-203 ENSP00000389744
ENST00000437951
Q13635
Show all »
Show » Show » 1381 153.9 No >9