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UniProtKB - Q96NR3 (PTHD1_HUMAN)

Entry version 127 (02 Dec 2020)
Sequence version 2 (06 Mar 2007)
Previous versions | rss
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Protein

Patched domain-containing protein 1

Gene

PTCHD1

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 transcript 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

Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention.By similarity

<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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96NR3

<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:
Patched domain-containing protein 1Curated
<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:PTCHD1Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 X

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000165186.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:26392, PTCHD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300828, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96NR3

<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 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>Transmembranei20 – 40HelicalSequence analysisAdd BLAST21
Transmembranei273 – 293HelicalSequence analysisAdd BLAST21
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Transmembranei407 – 427HelicalSequence analysisAdd BLAST21
Transmembranei502 – 522HelicalSequence analysisAdd BLAST21
Transmembranei707 – 727HelicalSequence analysisAdd BLAST21
Transmembranei738 – 758HelicalSequence analysisAdd BLAST21
Transmembranei795 – 815HelicalSequence analysisAdd BLAST21
Transmembranei826 – 846HelicalSequence analysisAdd BLAST21

<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>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

Autism, X-linked 4 (AUTSX4)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
Related information in OMIM

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNET

More...DisGeNETi		139411

MalaCards human disease database

More...MalaCardsi		PTCHD1
MIMi300830, phenotype

Open Targets

More...OpenTargetsi		ENSG00000165186

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

More...Orphaneti		106, NON RARE IN EUROPE: Autism
777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134942420

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96NR3, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PTCHD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		146331074

<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_00002800401 – 888Patched domain-containing protein 1Add BLAST888

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>Glycosylationi77N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi133N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi319N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi326N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi568N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi599N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi608N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi762N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi818N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96NR3

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

More...PaxDbi		Q96NR3

PeptideAtlas

More...PeptideAtlasi		Q96NR3

PRoteomics IDEntifications database

More...PRIDEi		Q96NR3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77545 [Q96NR3-1]
77546 [Q96NR3-2]
77547 [Q96NR3-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96NR3, 10 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96NR3

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

More...PhosphoSitePlusi		Q96NR3

<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

Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165186, Expressed in cerebellum and 137 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96NR3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96NR3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000165186, Tissue enhanced (brain)

<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

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000368666

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96NR3, protein

<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>Domaini268 – 427SSDPROSITE-ProRule annotationAdd BLAST160

<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

More...eggNOGi		KOG1934, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157080

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1051839_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96NR3

Identification of Orthologs from Complete Genome Data

More...OMAi		FIMLGHG

Database of Orthologous Groups

More...OrthoDBi		172471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96NR3

TreeFam database of animal gene trees

More...TreeFami		TF331806

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003392, Ptc/Disp
IPR000731, SSD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02460, Patched, 1 hit

PROSITE; a protein domain and family database

More...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 (3+)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 3 <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 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96NR3-1) [UniParc]FASTAAdd to basket

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
MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE 
        60         70         80         90        100
SVEHLLAPQH SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS 
       110        120        130        140        150
FQKANMLDQH HTDLILKLHA AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV 
       160        170        180        190        200
DDIVHVLEEL KNARATNRTN FAITYPITHL KDGRAVYNGH QLGGVTVHSK 
       210        220        230        240        250
DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF QKSNSKVKMY 
       260        270        280        290        300
PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG 
       310        320        330        340        350
LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS 
       360        370        380        390        400
WRKTREDQHV KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR 
       410        420        430        440        450
IFCCNSCIAI FFNYLYVLSF YGSSLVFTGY IENNYQHSIF CRKVPKPEAL 
       460        470        480        490        500
QEKPAWYRFL LTARFSEDTA EGEEANTYES HLLVCFLKRY YCDWITNTYV 
       510        520        530        540        550
KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE YTTAQQKYFS 
       560        570        580        590        600
NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV 
       610        620        630        640        650
STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV 
       660        670        680        690        700
AKTMETNREE LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL 
       710        720        730        740        750
HNSCISALFL LFFSAFLVAD SLINVWITLT VVSVEFGVIG FMTLWKVELD 
       760        770        780        790        800
CISVLCLIYG INYTIDNCAP MLSTFVLGKD FTRTKWVKNA LEVHGVAILQ 
       810        820        830        840        850
SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA ILPVILTFLP 
       860        870        880 
PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV
Length:888
Mass (Da):101,341
Last modified:March 6, 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:i189E1C453CBF548F
GO
Isoform 2 (identifier: Q96NR3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.

Show »
Length:783
Mass (Da):89,431
Checksum:i8EF444616F4B95E4
GO
Isoform 3 (identifier: Q96NR3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.
     339-361: HGLYGTFEMLSSWRKTREDQHVK → NYYSSFFCFRLLVVLTRFLKGQE
     362-888: Missing.

Show »
Length:256
Mass (Da):28,889
Checksum:i9D6EE33CA399D976
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2M0H7C2M0_HUMAN
Patched domain-containing protein 1
PTCHD1
103Annotation 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 conflicti5V → A in BAG60932 (PubMed:14702039).Curated1
Sequence conflicti587W → R in BAB70816 (PubMed:14702039).Curated1
Sequence conflicti774T → A in BAB70816 (PubMed:14702039).Curated1
Sequence conflicti883D → V in BAG60932 (PubMed:14702039).Curated1

Natural variant

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_07587651S → N Found in a patient with intellectual disability; unknown pathological significance. 1 Publication1
Natural variantiVAR_06487273L → F1 PublicationCorresponds to variant dbSNP:rs373105249Ensembl.1
Natural variantiVAR_07587782R → H1 PublicationCorresponds to variant dbSNP:rs371935424Ensembl.1
Natural variantiVAR_064873173I → V1 PublicationCorresponds to variant dbSNP:rs147324438EnsemblClinVar.1
Natural variantiVAR_064874195V → I1 PublicationCorresponds to variant dbSNP:rs769407241Ensembl.1
Natural variantiVAR_064875251P → L1 Publication1
Natural variantiVAR_064876336 – 337ML → II. 2
Natural variantiVAR_064877359H → R1 PublicationCorresponds to variant dbSNP:rs1331109571Ensembl.1
Natural variantiVAR_064878470A → D1 Publication1
Natural variantiVAR_064879479E → G1 Publication1
Natural variantiVAR_064880497N → K2 PublicationsCorresponds to variant dbSNP:rs35880456Ensembl.1
Natural variantiVAR_075878882V → A1 PublicationCorresponds to variant dbSNP:rs1393748204Ensembl.1

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_0235111 – 105Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST105
Alternative sequenceiVSP_023512339 – 361HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_023513362 – 888Missing in isoform 3. 1 PublicationAdd BLAST527

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
AK054858 mRNA Translation: BAB70816.1
AK298796 mRNA Translation: BAG60932.1
AC073910 Genomic DNA No translation available.
BC062344 mRNA Translation: AAH62344.1
BC121061 mRNA Translation: AAI21062.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35215.2 [Q96NR3-1]

NCBI Reference Sequences

More...RefSeqi		NP_775766.2, NM_173495.2 [Q96NR3-1]
XP_011543751.1, XM_011545449.2 [Q96NR3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000379361; ENSP00000368666; ENSG00000165186 [Q96NR3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		139411

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:139411

UCSC genome browser

More...UCSCi		uc064yif.1, human [Q96NR3-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054858 mRNA Translation: BAB70816.1
AK298796 mRNA Translation: BAG60932.1
AC073910 Genomic DNA No translation available.
BC062344 mRNA Translation: AAH62344.1
BC121061 mRNA Translation: AAI21062.1
CCDSiCCDS35215.2 [Q96NR3-1]
RefSeqiNP_775766.2, NM_173495.2 [Q96NR3-1]
XP_011543751.1, XM_011545449.2 [Q96NR3-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

STRINGi9606.ENSP00000368666

PTM databases

GlyGeniQ96NR3, 10 sites
iPTMnetiQ96NR3
PhosphoSitePlusiQ96NR3

Polymorphism and mutation databases

BioMutaiPTCHD1
DMDMi146331074

Proteomic databases

jPOSTiQ96NR3
PaxDbiQ96NR3
PeptideAtlasiQ96NR3
PRIDEiQ96NR3
ProteomicsDBi77545 [Q96NR3-1]
77546 [Q96NR3-2]
77547 [Q96NR3-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		55285, 93 antibodies

Genome annotation databases

EnsembliENST00000379361; ENSP00000368666; ENSG00000165186 [Q96NR3-1]
GeneIDi139411
KEGGihsa:139411
UCSCiuc064yif.1, human [Q96NR3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		139411
DisGeNETi139411
EuPathDBiHostDB:ENSG00000165186.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		PTCHD1
HGNCiHGNC:26392, PTCHD1
HPAiENSG00000165186, Tissue enhanced (brain)
MalaCardsiPTCHD1
MIMi300828, gene
300830, phenotype
neXtProtiNX_Q96NR3
OpenTargetsiENSG00000165186
Orphaneti106, NON RARE IN EUROPE: Autism
777, X-linked non-syndromic intellectual disability
PharmGKBiPA134942420

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1934, Eukaryota
GeneTreeiENSGT00940000157080
HOGENOMiCLU_1051839_0_0_1
InParanoidiQ96NR3
OMAiFIMLGHG
OrthoDBi172471at2759
PhylomeDBiQ96NR3
TreeFamiTF331806

Enzyme and pathway databases

PathwayCommonsiQ96NR3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		139411, 3 hits in 468 CRISPR screens

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

More...ChiTaRSi		PTCHD1, human

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

More...GenomeRNAii		139411
PharosiQ96NR3, Tbio

Protein Ontology

More...PROi		PR:Q96NR3
RNActiQ96NR3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165186, Expressed in cerebellum and 137 other tissues
ExpressionAtlasiQ96NR3, baseline and differential
GenevisibleiQ96NR3, HS

Family and domain databases

InterProiView protein in InterPro
IPR003392, Ptc/Disp
IPR000731, SSD
PfamiView protein in Pfam
PF02460, Patched, 1 hit
PROSITEiView protein in PROSITE
PS50156, SSD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiPTHD1_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: Q96NR3
Secondary accession number(s): B4DQH0, Q0IJ60, Q6P6B8
<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: March 6, 2007
Last sequence update: March 6, 2007
Last modified: December 2, 2020
This is version 127 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

Reference proteome

Documents

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