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PTCH1 patched 1 [ Homo sapiens (human) ]

Gene ID: 5727, updated on 21-Nov-2014
Official Symbol
PTCH1provided by HGNC
Official Full Name
patched 1provided by HGNC
Primary source
HGNC:HGNC:9585
Locus tag
RP11-435O5.3
See related
Ensembl:ENSG00000185920; HPRD:03200; MIM:601309; Vega:OTTHUMG00000020280
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTC; BCNS; HPE7; PTC1; PTCH; NBCCS; PTCH11
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]
See PTCH1 in Epigenomics, MapViewer
Location:
9q22.3
Exon count:
29
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (95442982..95516965, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98205264..98279247, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Fanconi anemia, complementation group C Neighboring gene ATM interactor pseudogene Neighboring gene uncharacterized LOC100507346 Neighboring gene metallothionein 1 pseudogene 1 Neighboring gene uncharacterized LOC102724478 Neighboring gene proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Basal cell carcinoma, multiple
MedGen: C1854245 OMIM: 605462 GeneReviews: Not available
Compare labs
Gorlin syndrome Compare labs
Holoprosencephaly 7
MedGen: C1835820 OMIM: 610828 GeneReviews: Holoprosencephaly Overview
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated (2011-12-01)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-12-01)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Chemerin, a novel adipokine in the regulation of angiogenesis.
NHGRI GWA Catalog
Genome-wide association analysis identifies 20 loci that influence adult height.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog
  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystem
    Endochondral Ossification
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Glypican 3 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 3 network, organism-specific biosystem
    Glypican 3 network
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by the Hedgehog family, organism-specific biosystem
    Signaling events mediated by the Hedgehog family
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ26746, FLJ42602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
hedgehog family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
hedgehog receptor activity IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
patched binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IEA
Inferred from Electronic Annotation
more info
 
smoothened binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation involved in kidney development IEA
Inferred from Electronic Annotation
more info
 
cell proliferation involved in metanephros development IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal/ventral pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
epidermis development IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mammary gland epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of multicellular organism growth ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sequence-specific DNA binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural plate axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
neural tube patterning IMP
Inferred from Mutant Phenotype
more info
PubMed 
organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pharyngeal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
protein processing ISS
Inferred from Sequence or Structural Similarity
more info
 
protein targeting to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
renal system development IEP
Inferred from Expression Pattern
more info
PubMed 
response to chlorate IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
somite development IMP
Inferred from Mutant Phenotype
more info
PubMed 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
axonal growth cone IEA
Inferred from Electronic Annotation
more info
 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
dendritic growth cone IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
midbody IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
primary cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein patched homolog 1
Names
protein patched homolog 1
PTCH protein +4'
PTCH protein -10
PTCH protein +12b
PTCH protein -3,4,5

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007664.1 

    Range
    5001..78984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_515

mRNA and Protein(s)

  1. NM_000264.3NP_000255.2  protein patched homolog 1 isoform L

    See proteins identical to NP_000255.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1b) encodes the longest isoform (L).
    Source sequence(s)
    AB209495, AI494442, BX117041, CR744004, DB093644, U59464
    Consensus CDS
    CCDS6714.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Related
    ENSP00000332353, OTTHUMP00000021709, ENST00000331920, OTTHUMT00000053229
    Conserved Domains (3) summary
    TIGR00918
    Location:431206
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:10251161
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:462616
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  2. NM_001083602.1NP_001077071.1  protein patched homolog 1 isoform M

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1a) differs in the 5' UTR and has multiple differences in the 5' coding region, compared to variant 1b. These differences result in a protein (isoform M) with a shorter N-terminus and distinct translation initiation site, compared to isoform L.
    Source sequence(s)
    AB189436, AB209495, BX117041, CR744004, U59464
    Consensus CDS
    CCDS47996.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Related
    ENSP00000389744, ENST00000437951
    Conserved Domains (3) summary
    TIGR00918
    Location:21140
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:9591095
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:396550
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  3. NM_001083603.1NP_001077072.1  protein patched homolog 1 isoform L'

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1a') differs in the 5' UTR and has multiple differences in the 5' coding region, compared to variant 1b. These differences result in a protein (isoform L') with a shorter N-terminus and distinct translation initiation site, compared to isoform L.
    Source sequence(s)
    AB189437, AB209495, BX117041, CR744004, U59464
    Consensus CDS
    CCDS47995.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Conserved Domains (3) summary
    TIGR00918
    Location:651205
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:10241160
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:461615
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  4. NM_001083604.1NP_001077073.1  protein patched homolog 1 isoform S

    See proteins identical to NP_001077073.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1c) differs in the 5' UTR and has multiple differences in the 5' coding region, compared to variant 1b. These differences cause translation initiation from a downstream ATG and an isoform (S) with a shorter N-terminus, compared to isoform L. Variants 1c, 1c', 1d, and 1e encode the same isoform (S).
    Source sequence(s)
    AB189438, AB209495, BX117041, CR744004, U59464
    Consensus CDS
    CCDS43851.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Related
    ENSP00000399981, ENST00000421141
    Conserved Domains (3) summary
    TIGR00918
    Location:11055
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:8741010
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:311465
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  5. NM_001083605.1NP_001077074.1  protein patched homolog 1 isoform S

    See proteins identical to NP_001077074.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1c') differs in the 5' UTR and has multiple differences in the 5' coding region, compared to variant 1b. These differences cause translation initiation from a downstream ATG and an isoform (S) with a shorter N-terminus, compared to isoform L. Variants 1c, 1c', 1d, and 1e encode the same isoform (S).
    Source sequence(s)
    AB189439, AB209495, BX117041, CR744004, U59464
    Consensus CDS
    CCDS43851.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Conserved Domains (3) summary
    TIGR00918
    Location:11055
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:8741010
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:311465
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  6. NM_001083606.1NP_001077075.1  protein patched homolog 1 isoform S

    See proteins identical to NP_001077075.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1d) differs in the 5' UTR and has multiple differences in the 5' coding region, compared to variant 1b. These differences cause translation initiation from a downstream ATG and an isoform (S) with a shorter N-terminus, compared to isoform L. Variants 1c, 1c', 1d, and 1e encode the same isoform (S).
    Source sequence(s)
    AB209495, AI358880, BX117041, CR744004, U43148
    Consensus CDS
    CCDS43851.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Related
    ENSP00000414823, OTTHUMP00000021710, ENST00000429896, OTTHUMT00000053230
    Conserved Domains (3) summary
    TIGR00918
    Location:11055
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:8741010
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:311465
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  7. NM_001083607.1NP_001077076.1  protein patched homolog 1 isoform S

    See proteins identical to NP_001077076.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1e) differs in the 5' UTR and has multiple differences in the 5' coding region, compared to variant 1b. These differences cause translation initiation from a downstream ATG and an isoform (S) with a shorter N-terminus, compared to isoform L. Variants 1c, 1c', 1d, and 1e encode the same isoform (S).
    Source sequence(s)
    AB189440, AB209495, BF195352, BX117041, CR744004, U59464
    Consensus CDS
    CCDS43851.1
    UniProtKB/Swiss-Prot
    Q13635
    UniProtKB/TrEMBL
    Q59FG5
    Related
    ENSP00000396135, ENST00000418258
    Conserved Domains (3) summary
    TIGR00918
    Location:11055
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:8741010
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:311465
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    67814741..67888045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    95442982..95516965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252102.1XP_005252159.1  

    See proteins identical to XP_005252159.1

    UniProtKB/Swiss-Prot
    Q13635
    Conserved Domains (3) summary
    TIGR00918
    Location:11055
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:8741010
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:311465
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

RNA

  1. XR_242599.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    98351712..98425709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)