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Entry version 204 (17 Jun 2020)
Sequence version 2 (23 Oct 2007)
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Protein

Protein patched homolog 1

Gene

PTCH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635838 Activation of SMO

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q13635

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q13635

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.6.6.13 the resistance-nodulation-cell division (rnd) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein patched homolog 1
Short name:
PTC
Short name:
PTC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PTCH1
Synonyms:PTCH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000185920.15

Human Gene Nomenclature Database

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HGNCi
HGNC:9585 PTCH1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601309 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13635

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 100CytoplasmicSequence analysisAdd BLAST100
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei101 – 121HelicalSequence analysisAdd BLAST21
Topological domaini122 – 436ExtracellularSequence analysisAdd BLAST315
Transmembranei437 – 457HelicalSequence analysisAdd BLAST21
Topological domaini458 – 472CytoplasmicSequence analysisAdd BLAST15
Transmembranei473 – 493HelicalSequence analysisAdd BLAST21
Topological domaini494 – 501ExtracellularSequence analysis8
Transmembranei502 – 522HelicalSequence analysisAdd BLAST21
Topological domaini523 – 547CytoplasmicSequence analysisAdd BLAST25
Transmembranei548 – 568HelicalSequence analysisAdd BLAST21
Topological domaini569 – 577ExtracellularSequence analysis9
Transmembranei578 – 598HelicalSequence analysisAdd BLAST21
Topological domaini599 – 748CytoplasmicSequence analysisAdd BLAST150
Transmembranei749 – 769HelicalSequence analysisAdd BLAST21
Topological domaini770 – 1027ExtracellularSequence analysisAdd BLAST258
Transmembranei1028 – 1048HelicalSequence analysisAdd BLAST21
Topological domaini1049 – 1055CytoplasmicSequence analysis7
Transmembranei1056 – 1076HelicalSequence analysisAdd BLAST21
Topological domaini1077 – 1083ExtracellularSequence analysis7
Transmembranei1084 – 1104HelicalSequence analysisAdd BLAST21
Topological domaini1105 – 1121CytoplasmicSequence analysisAdd BLAST17
Transmembranei1122 – 1141HelicalSequence analysisAdd BLAST20
Topological domaini1142 – 1154ExtracellularSequence analysisAdd BLAST13
Transmembranei1155 – 1175HelicalSequence analysisAdd BLAST21
Topological domaini1176 – 1447CytoplasmicSequence analysisAdd BLAST272

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Basal cell nevus syndrome (BCNS)5 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_007843175L → P in BCNS; sporadic BCC. 1 Publication1
Natural variantiVAR_020845230T → P in BCNS. 1 Publication1
Natural variantiVAR_007844376F → S in BCNS. 1 Publication1
Natural variantiVAR_020846505 – 506FL → LR in BCNS. 2
Natural variantiVAR_010974509G → R in BCNS; unknown pathological significance. 1 Publication1
Natural variantiVAR_010975509G → V in BCNS. 1 Publication1
Natural variantiVAR_010976513D → Y in BCNS. 1 Publication1
Natural variantiVAR_007845815I → IPNI in BCNS. 1
Natural variantiVAR_010977816Missing in BCNS. 1 Publication1
Natural variantiVAR_0109791069G → R in BCNS. 1 Publication1
Natural variantiVAR_0078461083V → VV in BCNS. 1 Publication1
Natural variantiVAR_0078471114R → W in BCNS and BCC. 1 PublicationCorresponds to variant dbSNP:rs587776689Ensembl.1
Natural variantiVAR_0109801132S → P in BCNS. 1 PublicationCorresponds to variant dbSNP:rs878853856Ensembl.1
Natural variantiVAR_0109811132S → Y in BCNS. 1 Publication1
Natural variantiVAR_0109841438E → D in BCNS; sporadic NBCCS. 1 Publication1
Basal cell carcinoma (BCC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0078471114R → W in BCNS and BCC. 1 PublicationCorresponds to variant dbSNP:rs587776689Ensembl.1
Holoprosencephaly 7 (HPE7)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032952393A → T in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476091Ensembl.1
Natural variantiVAR_032953443A → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs878853845Ensembl.1
Natural variantiVAR_032954728T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs115556836Ensembl.1
Natural variantiVAR_032955751V → G in HPE7. 1 Publication1
Natural variantiVAR_032956827S → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476092Ensembl.1
Natural variantiVAR_032957908V → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476093Ensembl.1
Natural variantiVAR_0329581052T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs138911275Ensembl.1

Keywords - Diseasei

Disease mutation, Holoprosencephaly, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
5727

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PTCH1

MalaCards human disease database

More...
MalaCardsi
PTCH1
MIMi109400 phenotype
605462 phenotype
610828 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000185920

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93925 Alobar holoprosencephaly
377 Gorlin syndrome
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
77301 Monosomy 9q22.3
2353 Schilbach-Rott syndrome
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33937

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q13635 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PTCH1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160415977

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002059641 – 1447Protein patched homolog 1Add BLAST1447

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi141N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi312N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi349N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi414N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi875N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1000N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1195PhosphothreonineBy similarity1
Modified residuei1197PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1426Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylation is necessary for SHH binding.By similarity
In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13635

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13635

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q13635

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q13635

PeptideAtlas

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PeptideAtlasi
Q13635

PRoteomics IDEntifications database

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PRIDEi
Q13635

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59627 [Q13635-1]
59628 [Q13635-2]
59629 [Q13635-3]
59630 [Q13635-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13635

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q13635

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185920 Expressed in tibia and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13635 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13635 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000185920 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SNX17 (PubMed:15769472).

Interacts with IHH (PubMed:21537345).

Interacts with G-protein coupled receptor GPR37L1 (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
111699, 192 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13635

Database of interacting proteins

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DIPi
DIP-44940N

Protein interaction database and analysis system

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IntActi
Q13635, 77 interactors

Molecular INTeraction database

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MINTi
Q13635

STRING: functional protein association networks

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STRINGi
9606.ENSP00000332353

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q13635 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11447
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13635

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini438 – 598SSDPROSITE-ProRule annotationAdd BLAST161

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi14 – 31Gly-richAdd BLAST18

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the patched family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1935 Eukaryota
ENOG410XRKU LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159011

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_002506_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13635

KEGG Orthology (KO)

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KOi
K06225

Identification of Orthologs from Complete Genome Data

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OMAi
FEYPTQQ

Database of Orthologous Groups

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OrthoDBi
1190129at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13635

TreeFam database of animal gene trees

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TreeFami
TF106489

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003392 Ptc/Disp
IPR000731 SSD
IPR004766 TM_rcpt_patched

Pfam protein domain database

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Pfami
View protein in Pfam
PF02460 Patched, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00918 2A060602, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50156 SSD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform L (identifier: Q13635-1) [UniParc]FASTAAdd to basket
Also known as: 1B

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL
60 70 80 90 100
HRPSYCDAAF ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK
110 120 130 140 150
FLVVGLLIFG AFAVGLKAAN LETNVEELWV EVGGRVSREL NYTRQKIGEE
160 170 180 190 200
AMFNPQLMIQ TPKEEGANVL TTEALLQHLD SALQASRVHV YMYNRQWKLE
210 220 230 240 250
HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK LQSGTAYLLG
260 270 280 290 300
KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA
310 320 330 340 350
DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS
360 370 380 390 400
TGKLVSAHAL QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ
410 420 430 440 450
RTYVEVVHQS VAQNSTQKVL SFTTTTLDDI LKSFSDVSVI RVASGYLLML
460 470 480 490 500
AYACLTMLRW DCSKSQGAVG LAGVLLVALS VAAGLGLCSL IGISFNAATT
510 520 530 540 550
QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC LKRTGASVAL
560 570 580 590 600
TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL
610 620 630 640 650
YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF
660 670 680 690 700
AHETQITMQS TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ
710 720 730 740 750
SPESTSSTRD LLSQFSDSSL HCLEPPCTKW TLSSFAEKHY APFLLKPKAK
760 770 780 790 800
VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI VPRETREYDF IAAQFKYFSF
810 820 830 840 850
YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL PKMWLHYFRD
860 870 880 890 900
WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS
910 920 930 940 950
QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH
960 970 980 990 1000
DKADYMPETR LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN
1010 1020 1030 1040 1050
YTSLGLSSYP NGYPFLFWEQ YIGLRHWLLL FISVVLACTF LVCAVFLLNP
1060 1070 1080 1090 1100
WTAGIIVMVL ALMTVELFGM MGLIGIKLSA VPVVILIASV GIGVEFTVHV
1110 1120 1130 1140 1150
ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML AGSEFDFIVR
1160 1170 1180 1190 1200
YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP
1210 1220 1230 1240 1250
PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP
1260 1270 1280 1290 1300
AHQVIVEATE NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ
1310 1320 1330 1340 1350
QPRRDPPREG LWPPPYRPRR DAFEISTEGH SGPSNRARWG PRGARSHNPR
1360 1370 1380 1390 1400
NPASTAMGSS VPGYCQPITT VTASASVTVA VHPPPVPGPG RNPRGGLCPG
1410 1420 1430 1440
YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN
Length:1,447
Mass (Da):160,545
Last modified:October 23, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF2937247BC812F85
GO
Isoform L' (identifier: Q13635-2) [UniParc]FASTAAdd to basket
Also known as: 1Ckid

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MASAGNAAEP...DAAFALEQIS → MELLNRNRLV...DRGDKETRSD

Show »
Length:1,446
Mass (Da):161,038
Checksum:iE6AE7954E04633D1
GO
Isoform M (identifier: Q13635-3) [UniParc]FASTAAdd to basket
Also known as: 1C

The sequence of this isoform differs from the canonical sequence as follows:
     2-67: Missing.

Show »
Length:1,381
Mass (Da):153,853
Checksum:iF37D7805A3C69472
GO
Isoform S (identifier: Q13635-4) [UniParc]FASTAAdd to basket
Also known as: 1A, 1CdeltaE2

The sequence of this isoform differs from the canonical sequence as follows:
     2-152: Missing.

Show »
Length:1,296
Mass (Da):144,356
Checksum:i66CA1F5AE1BDCE61
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3B8H0Y3B8_HUMAN
Protein patched homolog 1
PTCH1
352Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BLX7H3BLX7_HUMAN
Protein patched homolog 1
PTCH1
486Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VXL8F8VXL8_HUMAN
Protein patched homolog 1
PTCH1
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VQS6F8VQS6_HUMAN
Protein patched homolog 1
PTCH1
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VPA3F8VPA3_HUMAN
Protein patched homolog 1
PTCH1
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGJ5A0A0C4DGJ5_HUMAN
Protein patched homolog 1
PTCH1
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YHK0H0YHK0_HUMAN
Protein patched homolog 1
PTCH1
16Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGI4A0A0C4DGI4_HUMAN
Protein patched homolog 1
PTCH1
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1109G → S in AAC50496 (PubMed:8647801).Curated1
Sequence conflicti1144E → D in AAC50496 (PubMed:8647801).Curated1
Sequence conflicti1175L → W in AAC50496 (PubMed:8647801).Curated1
Sequence conflicti1283R → K in AAC50496 (PubMed:8647801).Curated1
Sequence conflicti1309E → K in AAC50496 (PubMed:8647801).Curated1
Sequence conflicti1353A → T in AAC50496 (PubMed:8647801).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007843175L → P in BCNS; sporadic BCC. 1 Publication1
Natural variantiVAR_020845230T → P in BCNS. 1 Publication1
Natural variantiVAR_007844376F → S in BCNS. 1 Publication1
Natural variantiVAR_032952393A → T in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476091Ensembl.1
Natural variantiVAR_032953443A → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs878853845Ensembl.1
Natural variantiVAR_020846505 – 506FL → LR in BCNS. 2
Natural variantiVAR_010974509G → R in BCNS; unknown pathological significance. 1 Publication1
Natural variantiVAR_010975509G → V in BCNS. 1 Publication1
Natural variantiVAR_010976513D → Y in BCNS. 1 Publication1
Natural variantiVAR_032954728T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs115556836Ensembl.1
Natural variantiVAR_032955751V → G in HPE7. 1 Publication1
Natural variantiVAR_007845815I → IPNI in BCNS. 1
Natural variantiVAR_010977816Missing in BCNS. 1 Publication1
Natural variantiVAR_032956827S → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476092Ensembl.1
Natural variantiVAR_010978829V → M in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs201125580Ensembl.1
Natural variantiVAR_032957908V → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476093Ensembl.1
Natural variantiVAR_0329581052T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs138911275Ensembl.1
Natural variantiVAR_0109791069G → R in BCNS. 1 Publication1
Natural variantiVAR_0078461083V → VV in BCNS. 1 Publication1
Natural variantiVAR_0078471114R → W in BCNS and BCC. 1 PublicationCorresponds to variant dbSNP:rs587776689Ensembl.1
Natural variantiVAR_0109801132S → P in BCNS. 1 PublicationCorresponds to variant dbSNP:rs878853856Ensembl.1
Natural variantiVAR_0109811132S → Y in BCNS. 1 Publication1
Natural variantiVAR_0204401195T → S. Corresponds to variant dbSNP:rs2236405Ensembl.1
Natural variantiVAR_0109821242E → K in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs779417284Ensembl.1
Natural variantiVAR_0208471282P → L. Corresponds to variant dbSNP:rs2227968Ensembl.1
Natural variantiVAR_0109831315P → L4 PublicationsCorresponds to variant dbSNP:rs357564Ensembl.1
Natural variantiVAR_0109841438E → D in BCNS; sporadic NBCCS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0413691 – 66MASAG…LEQIS → MELLNRNRLVIVSPRCTPPK ASGGPARRGFYTFRSFCKDG GGGEEEEENGGEEKDDRGDK ETRSD in isoform L'. 1 PublicationAdd BLAST66
Alternative sequenceiVSP_0413702 – 152Missing in isoform S. 3 PublicationsAdd BLAST151
Alternative sequenceiVSP_0413712 – 67Missing in isoform M. 2 PublicationsAdd BLAST66

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U59464 mRNA Translation: AAC50550.1
U43148 mRNA Translation: AAC50496.1
AL161729 Genomic DNA No translation available.
AB189436 mRNA Translation: BAD74184.1
AB189437 mRNA Translation: BAD74185.1
AB189438 mRNA Translation: BAD74186.1
AB189439 mRNA Translation: BAD74187.1
AB189440 mRNA Translation: BAD74188.1
BC043542 mRNA Translation: AAH43542.1
AB239329 mRNA Translation: BAF47712.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43851.1 [Q13635-4]
CCDS47995.1 [Q13635-2]
CCDS47996.1 [Q13635-3]
CCDS6714.1 [Q13635-1]

NCBI Reference Sequences

More...
RefSeqi
NP_000255.2, NM_000264.3 [Q13635-1]
NP_001077071.1, NM_001083602.1 [Q13635-3]
NP_001077072.1, NM_001083603.1 [Q13635-2]
NP_001077073.1, NM_001083604.1 [Q13635-4]
NP_001077074.1, NM_001083605.1 [Q13635-4]
NP_001077075.1, NM_001083606.1 [Q13635-4]
NP_001077076.1, NM_001083607.1 [Q13635-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000331920; ENSP00000332353; ENSG00000185920 [Q13635-1]
ENST00000375274; ENSP00000364423; ENSG00000185920 [Q13635-2]
ENST00000418258; ENSP00000396135; ENSG00000185920 [Q13635-4]
ENST00000421141; ENSP00000399981; ENSG00000185920 [Q13635-4]
ENST00000429896; ENSP00000414823; ENSG00000185920 [Q13635-4]
ENST00000430669; ENSP00000410287; ENSG00000185920 [Q13635-3]
ENST00000437951; ENSP00000389744; ENSG00000185920 [Q13635-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5727

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5727

UCSC genome browser

More...
UCSCi
uc004avk.5 human [Q13635-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U59464 mRNA Translation: AAC50550.1
U43148 mRNA Translation: AAC50496.1
AL161729 Genomic DNA No translation available.
AB189436 mRNA Translation: BAD74184.1
AB189437 mRNA Translation: BAD74185.1
AB189438 mRNA Translation: BAD74186.1
AB189439 mRNA Translation: BAD74187.1
AB189440 mRNA Translation: BAD74188.1
BC043542 mRNA Translation: AAH43542.1
AB239329 mRNA Translation: BAF47712.1
CCDSiCCDS43851.1 [Q13635-4]
CCDS47995.1 [Q13635-2]
CCDS47996.1 [Q13635-3]
CCDS6714.1 [Q13635-1]
RefSeqiNP_000255.2, NM_000264.3 [Q13635-1]
NP_001077071.1, NM_001083602.1 [Q13635-3]
NP_001077072.1, NM_001083603.1 [Q13635-2]
NP_001077073.1, NM_001083604.1 [Q13635-4]
NP_001077074.1, NM_001083605.1 [Q13635-4]
NP_001077075.1, NM_001083606.1 [Q13635-4]
NP_001077076.1, NM_001083607.1 [Q13635-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6DMBelectron microscopy3.90A1-1305[»]
6DMOelectron microscopy4.10A1-1305[»]
6DMYelectron microscopy3.60A1-1305[»]
6E1Helectron microscopy3.50A/B1-1447[»]
6N7Gelectron microscopy6.80A/B/D/E1-1305[»]
6N7Helectron microscopy3.60A/B1-1305[»]
6N7Kelectron microscopy6.50A/B/D/E1-1305[»]
6OEUelectron microscopy3.50A1-1447[»]
6OEVelectron microscopy3.80A1-1447[»]
6RMGelectron microscopy3.40A1-1188[»]
6RTWX-ray1.90A136-423[»]
6RTXX-ray1.95A139-428[»]
6RTYX-ray2.10A136-423[»]
6RVCX-ray2.20A/B/C772-1023[»]
6RVDelectron microscopy3.50A/B1-1447[»]
SMRiQ13635
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111699, 192 interactors
CORUMiQ13635
DIPiDIP-44940N
IntActiQ13635, 77 interactors
MINTiQ13635
STRINGi9606.ENSP00000332353

Protein family/group databases

TCDBi2.A.6.6.13 the resistance-nodulation-cell division (rnd) superfamily

PTM databases

iPTMnetiQ13635
PhosphoSitePlusiQ13635

Polymorphism and mutation databases

BioMutaiPTCH1
DMDMi160415977

Proteomic databases

EPDiQ13635
jPOSTiQ13635
MassIVEiQ13635
PaxDbiQ13635
PeptideAtlasiQ13635
PRIDEiQ13635
ProteomicsDBi59627 [Q13635-1]
59628 [Q13635-2]
59629 [Q13635-3]
59630 [Q13635-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
4435 659 antibodies

The DNASU plasmid repository

More...
DNASUi
5727

Genome annotation databases

EnsembliENST00000331920; ENSP00000332353; ENSG00000185920 [Q13635-1]
ENST00000375274; ENSP00000364423; ENSG00000185920 [Q13635-2]
ENST00000418258; ENSP00000396135; ENSG00000185920 [Q13635-4]
ENST00000421141; ENSP00000399981; ENSG00000185920 [Q13635-4]
ENST00000429896; ENSP00000414823; ENSG00000185920 [Q13635-4]
ENST00000430669; ENSP00000410287; ENSG00000185920 [Q13635-3]
ENST00000437951; ENSP00000389744; ENSG00000185920 [Q13635-3]
GeneIDi5727
KEGGihsa:5727
UCSCiuc004avk.5 human [Q13635-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5727
DisGeNETi5727
EuPathDBiHostDB:ENSG00000185920.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PTCH1
GeneReviewsiPTCH1
HGNCiHGNC:9585 PTCH1
HPAiENSG00000185920 Low tissue specificity
MalaCardsiPTCH1
MIMi109400 phenotype
601309 gene
605462 phenotype
610828 phenotype
neXtProtiNX_Q13635
OpenTargetsiENSG00000185920
Orphaneti93925 Alobar holoprosencephaly
377 Gorlin syndrome
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
77301 Monosomy 9q22.3
2353 Schilbach-Rott syndrome
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA33937

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1935 Eukaryota
ENOG410XRKU LUCA
GeneTreeiENSGT00940000159011
HOGENOMiCLU_002506_1_0_1
InParanoidiQ13635
KOiK06225
OMAiFEYPTQQ
OrthoDBi1190129at2759
PhylomeDBiQ13635
TreeFamiTF106489

Enzyme and pathway databases

ReactomeiR-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635838 Activation of SMO
SignaLinkiQ13635
SIGNORiQ13635

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
5727 2 hits in 787 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PTCH1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PTCH1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5727
PharosiQ13635 Tbio

Protein Ontology

More...
PROi
PR:Q13635
RNActiQ13635 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185920 Expressed in tibia and 221 other tissues
ExpressionAtlasiQ13635 baseline and differential
GenevisibleiQ13635 HS

Family and domain databases

InterProiView protein in InterPro
IPR003392 Ptc/Disp
IPR000731 SSD
IPR004766 TM_rcpt_patched
PfamiView protein in Pfam
PF02460 Patched, 2 hits
TIGRFAMsiTIGR00918 2A060602, 1 hit
PROSITEiView protein in PROSITE
PS50156 SSD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPTC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13635
Secondary accession number(s): A3KBI9
, E9PEJ8, Q13463, Q5R1U7, Q5R1U9, Q5R1V0, Q5VZC0, Q5VZC2, Q86XG7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 23, 2007
Last modified: June 17, 2020
This is version 204 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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