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    PTCH1 patched 1 [ Homo sapiens (human) ]

    Gene ID: 5727, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PTCH1provided by HGNC
    Official Full Name
    patched 1provided by HGNC
    Primary source
    HGNC:HGNC:9585
    See related
    Ensembl:ENSG00000185920 MIM:601309; AllianceGenome:HGNC:9585
    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; PTC1; PTCH; BCNS1; NBCCS
    Summary
    This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in endometrium (RPKM 11.5), testis (RPKM 8.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTCH1 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (95442980..95516971, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (107612621..107686610, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98205262..98279253, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376155 Neighboring gene Sharpr-MPRA regulatory region 1060 Neighboring gene uncharacterized LOC105376156 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98173297-98173917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20065 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98196113-98196685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98196686-98197257 Neighboring gene metallothionein 1 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98209829-98210813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98224469-98225332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98225569-98226070 Neighboring gene uncharacterized LOC100507346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98255961-98256702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98256703-98257442 Neighboring gene VISTA enhancer hs1258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:98269229-98269862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20071 Neighboring gene NANOG hESC enhancer GRCh37_chr9:98271448-98271997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:98272951-98273714 Neighboring gene VISTA enhancer hs1417 Neighboring gene uncharacterized LOC105376157 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110687 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:98314166-98315130 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:98315131-98316095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98326699-98327200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98327201-98327700 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110694 Neighboring gene uncharacterized LOC105376158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98362911-98363412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98363413-98363912

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Unmasking of epigenetically silenced genes reveals DNA promoter methylation and reduced expression of PTCH in breast cancer. Wolf I, et al. Breast Cancer Res Treat, 2007 Oct. PMID 17295047
    2. Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Bholah Z, et al. Fam Cancer, 2014 Sep. PMID 24659465
    3. Myogenic tumors in nevoid Basal cell carcinoma syndrome. Hettmer S, et al. J Pediatr Hematol Oncol, 2015 Mar. PMID 24517962, Free PMC Article
    4. Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients. Ponti G, et al. Biomed Res Int, 2013. PMID 24369017, Free PMC Article
    5. A loss-of-function mutation in PTCH1 suggests a role for autocrine hedgehog signaling in colorectal tumorigenesis. Chung JH, et al. Oncotarget, 2013 Dec. PMID 24368541, Free PMC Article

    See all (323) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Implicating clinical utility of altered expression of PTCH1 & SMO in oral squamous cell carcinoma.
      Title: Implicating clinical utility of altered expression of PTCH1 & SMO in oral squamous cell carcinoma.
    2. TRIM37 interacts with EZH2 to epigenetically suppress PTCH1 and regulate stemness in glioma stem cells through sonic hedgehog pathway.
      Title: TRIM37 interacts with EZH2 to epigenetically suppress PTCH1 and regulate stemness in glioma stem cells through sonic hedgehog pathway.
    3. PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis.
      Title: PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis.
    4. PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.
      Title: PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.
    5. Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome.
      Title: Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome.
    6. Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China.
      Title: Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China.
    7. New insight into the role of PTCH1 protein in serous ovarian carcinomas.
      Title: New insight into the role of PTCH1 protein in serous ovarian carcinomas.
    8. Orthokeratinized odontogenic cysts: A clinicopathologic study of 159 cases and molecular evidence for the absence of PTCH1 mutations.
      Title: Orthokeratinized odontogenic cysts: A clinicopathologic study of 159 cases and molecular evidence for the absence of PTCH1 mutations.
    9. Impaired Wnt/beta-catenin and protein patched homolog 1 signaling in extraocular sebaceous carcinoma: A clinical and histopathological study.
      Title: Impaired Wnt/beta-catenin and protein patched homolog 1 signaling in extraocular sebaceous carcinoma: A clinical and histopathological study.
    10. Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
      Title: Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
    Submit: New GeneRIF Correction See all GeneRIFs (243)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-01)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-01)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog
    Chemerin, a novel adipokine in the regulation of angiogenesis.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26746, FLJ42602

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cyclin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables hedgehog family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hedgehog family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables hedgehog receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables patched binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables smoothened binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables smoothened binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation involved in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell fate determination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell proliferation involved in metanephros development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to cholesterol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to cholesterol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in commissural neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dorsal/ventral pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epidermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mammary gland epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in metanephric collecting duct development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of smoothened signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural plate axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural tube patterning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of epidermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to chlorate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smooth muscle tissue development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in somite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in dendritic growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein patched homolog 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000264.5 → NP_000255.2  protein patched homolog 1 isoform L

      See identical proteins and their annotated locations for NP_000255.2

      Status: REVIEWED

      Source sequence(s)
      AL161729
      Consensus CDS
      CCDS6714.1
      UniProtKB/Swiss-Prot
      A3KBI9, E9PEJ8, Q13463, Q13635, Q5R1U7, Q5R1U9, Q5R1V0, Q5VZC0, Q5VZC2, Q86XG7
      Related
      ENSP00000332353.6, ENST00000331920.11
      Conserved Domains (2) summary
      PHA03377
      Location:1253 → 1369
      PHA03377; EBNA-3C; Provisional
      TIGR00918
      Location:43 → 1206
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

    2. NM_001083602.3 → NP_001077071.1  protein patched homolog 1 isoform M

      Status: REVIEWED

      Source sequence(s)
      AB189436, AB209495, AI417736, BC043542, BX117041, CR744004, U59464
      Consensus CDS
      CCDS47996.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000518556.1, ENST00000711046.1
      Conserved Domains (3) summary
      TIGR00918
      Location:2 → 1140
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:949 → 1095
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:396 → 550
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    3. NM_001083603.3 → NP_001077072.1  protein patched homolog 1 isoform L'

      Status: REVIEWED

      Source sequence(s)
      AB189437, AB209495, AI417736, AL161729, BX117041, CR744004, U59464
      Consensus CDS
      CCDS47995.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000389744.2, ENST00000437951.6
      Conserved Domains (3) summary
      TIGR00918
      Location:65 → 1205
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:1014 → 1160
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:461 → 615
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    4. NM_001083604.3 → NP_001077073.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077073.1

      Status: REVIEWED

      Source sequence(s)
      AB189438, AB209495, AI417736, BX117041, CR744004, U59464
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      TIGR00918
      Location:1 → 1055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:864 → 1010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311 → 465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    5. NM_001083605.3 → NP_001077074.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077074.1

      Status: REVIEWED

      Source sequence(s)
      AB189439, AB209495, AI417736, BX117041, CR744004, U59464
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000510238.1, ENST00000692981.1
      Conserved Domains (3) summary
      TIGR00918
      Location:1 → 1055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:864 → 1010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311 → 465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    6. NM_001083606.3 → NP_001077075.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077075.1

      Status: REVIEWED

      Source sequence(s)
      AB209495, AI358880, AI417736, AL161729, BX117041, CR744004, U43148
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000414823.2, ENST00000429896.6
      Conserved Domains (3) summary
      TIGR00918
      Location:1 → 1055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:864 → 1010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311 → 465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    7. NM_001083607.3 → NP_001077076.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077076.1

      Status: REVIEWED

      Source sequence(s)
      AB189440, AB209495, AI417736, BF195352, BX117041, CR744004, U59464
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      TIGR00918
      Location:1 → 1055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:864 → 1010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311 → 465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    8. NM_001354918.2 → NP_001341847.1  protein patched homolog 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL161729
      UniProtKB/TrEMBL
      A0A1W5YLI7
      Conserved Domains (2) summary
      TIGR00918
      Location:43 → 1154
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      cl27975
      Location:1201 → 1317
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    9. NM_001354919.2 → NP_001341848.1  protein patched homolog 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL161729, BC043542
      Consensus CDS
      CCDS87661.1
      UniProtKB/TrEMBL
      A0A0C4DGJ5
      Related
      ENSP00000449745.1, ENST00000468211.6
      Conserved Domains (1) summary
      cl25655
      Location:2 → 183
      Patched; Patched family

    RNA

    1. NR_149061.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL161729

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      95442980..95516971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      107612621..107686610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13635.2 GenPept UniProtKB/Swiss-Prot:Q13635

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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