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    PTCH1 patched 1 [ Homo sapiens (human) ]

    Gene ID: 5727, updated on 26-Jul-2015
    Official Symbol
    PTCH1provided by HGNC
    Official Full Name
    patched 1provided by HGNC
    Primary source
    HGNC:HGNC:9585
    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]
    Orthologs
    See PTCH1 in Epigenomics, MapViewer
    Location:
    9q22.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105376155 Neighboring gene uncharacterized LOC105376156 Neighboring gene metallothionein 1 pseudogene 1 Neighboring gene uncharacterized LOC100507346 Neighboring gene uncharacterized LOC105376157 Neighboring gene uncharacterized LOC102724478

    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
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    NHGRI GWA Catalog
    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
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    • Activation of SMO, organism-specific biosystem (from REACTOME)
      Activation of SMO, organism-specific biosystemActivation of the transmembrane protein SMO in response to Hh stimulation is a major control point in the Hh signaling pathway (reviewed in Ayers and Therond, 2010; Jiang and Hui, 2008). In the absen...
    • 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 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • 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, organism-specific biosystem (from KEGG)
      Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Hedgehog signaling, conserved biosystem (from KEGG)
      Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • 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...
    • Ligand-receptor interactions, organism-specific biosystem (from REACTOME)
      Ligand-receptor interactions, organism-specific biosystemRepression of Hh signaling in the absence of ligand depends on the transmembrane receptor protein Patched (PTCH), which inhibits Smoothened (SMO) activity by an unknown mechanism. This promotes the p...
    • 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 by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • 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 fate determination 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
     
    epidermal cell fate specification 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 
    positive regulation of epidermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    ciliary membrane TAS
    Traceable Author Statement
    more info
     
    dendritic growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    endocytic vesicle membrane TAS
    Traceable Author Statement
    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
    PTCH protein +12b
    PTCH protein +4'
    PTCH protein -10
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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
      pfam07698
      Location:10251161
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:462616
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:431206
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    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
      pfam07698
      Location:9591095
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:396550
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:21140
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    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
      pfam07698
      Location:10241160
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:461615
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:651205
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    4. NM_001083604.1NP_001077073.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for 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
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    5. NM_001083605.1NP_001077074.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for 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
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    6. NM_001083606.1NP_001077075.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for 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
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    7. NM_001083607.1NP_001077076.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for 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
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011518871.1XP_011517173.1  

      See identical proteins and their annotated locations for XP_011517173.1

      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    2. XM_011518868.1XP_011517170.1  

      See identical proteins and their annotated locations for XP_011517170.1

      Conserved Domains (3) summary
      pfam07698
      Location:9731109
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      TIGR00918
      Location:431154
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      cl21543
      Location:450564
      MMPL; MMPL family
    3. XM_011518873.1XP_011517175.1  

      Conserved Domains (3) summary
      pfam07698
      Location:745881
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:182336
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:1926
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    4. XM_011518870.1XP_011517172.1  

      See identical proteins and their annotated locations for XP_011517172.1

      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    5. XM_011518872.1XP_011517174.1  

      See identical proteins and their annotated locations for XP_011517174.1

      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    6. XM_011518869.1XP_011517171.1  

      See identical proteins and their annotated locations for XP_011517171.1

      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    7. XM_005252102.2XP_005252159.1  

      See identical proteins and their annotated locations for XP_005252159.1

      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      pfam07698
      Location:8741010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    8. XM_011518874.1XP_011517176.1  

      Conserved Domains (2) summary
      pfam12349
      Location:462616
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00918
      Location:431150
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

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