UniProtKB - Q96NR3 (PTHD1_HUMAN)
Protein
Patched domain-containing protein 1
Gene
PTCHD1
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- chemical synaptic transmission Source: GO_Central
- cognition Source: UniProtKB
- excitatory chemical synaptic transmission Source: Ensembl
- inhibitory chemical synaptic transmission Source: Ensembl
- long-term memory Source: Ensembl
- short-term memory Source: Ensembl
- smoothened signaling pathway Source: UniProtKB
- social behavior Source: UniProtKB
- thalamus development Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q96NR3 |
Names & Taxonomyi
Protein namesi | Recommended name: Patched domain-containing protein 1Curated |
Gene namesi | Name:PTCHD1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000165186.10 |
HGNCi | HGNC:26392, PTCHD1 |
MIMi | 300828, gene |
neXtProti | NX_Q96NR3 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: GO_Central
- synapse Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 20 – 40 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 273 – 293 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 298 – 318 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 328 – 348 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 373 – 393 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 407 – 427 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 502 – 522 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 707 – 727 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 738 – 758 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 795 – 815 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 826 – 846 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
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 OMIMKeywords - Diseasei
Autism, Autism spectrum disorderOrganism-specific databases
DisGeNETi | 139411 |
MalaCardsi | PTCHD1 |
MIMi | 300830, phenotype |
OpenTargetsi | ENSG00000165186 |
Orphaneti | 106, NON RARE IN EUROPE: Autism 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA134942420 |
Miscellaneous databases
Pharosi | Q96NR3, Tbio |
Polymorphism and mutation databases
BioMutai | PTCHD1 |
DMDMi | 146331074 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000280040 | 1 – 888 | Patched domain-containing protein 1Add BLAST | 888 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 77 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 133 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 167 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 319 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 326 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 568 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 599 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 608 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 762 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 818 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q96NR3 |
PaxDbi | Q96NR3 |
PeptideAtlasi | Q96NR3 |
PRIDEi | Q96NR3 |
ProteomicsDBi | 77545 [Q96NR3-1] 77546 [Q96NR3-2] 77547 [Q96NR3-3] |
PTM databases
GlyGeni | Q96NR3, 10 sites |
iPTMneti | Q96NR3 |
PhosphoSitePlusi | Q96NR3 |
Expressioni
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
Bgeei | ENSG00000165186, Expressed in cerebellum and 137 other tissues |
ExpressionAtlasi | Q96NR3, baseline and differential |
Genevisiblei | Q96NR3, HS |
Organism-specific databases
HPAi | ENSG00000165186, Tissue enhanced (brain) |
Interactioni
Protein-protein interaction databases
STRINGi | 9606.ENSP00000368666 |
Miscellaneous databases
RNActi | Q96NR3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 268 – 427 | SSDPROSITE-ProRule annotationAdd BLAST | 160 |
Sequence similaritiesi
Belongs to the patched family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1934, Eukaryota |
GeneTreei | ENSGT00940000157080 |
HOGENOMi | CLU_1051839_0_0_1 |
InParanoidi | Q96NR3 |
OMAi | FIMLGHG |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q96NR3 |
TreeFami | TF331806 |
Family and domain databases
InterProi | View protein in InterPro IPR003392, Ptc/Disp IPR000731, SSD |
Pfami | View protein in Pfam PF02460, Patched, 1 hit |
PROSITEi | View protein in PROSITE PS50156, SSD, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C2M0 | H7C2M0_HUMAN | Patched domain-containing protein 1 | PTCHD1 | 103 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 5 | V → A in BAG60932 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 587 | W → R in BAB70816 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 774 | T → A in BAB70816 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 883 | D → V in BAG60932 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075876 | 51 | S → N Found in a patient with intellectual disability; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_064872 | 73 | L → F1 PublicationCorresponds to variant dbSNP:rs373105249Ensembl. | 1 | |
Natural variantiVAR_075877 | 82 | R → H1 PublicationCorresponds to variant dbSNP:rs371935424Ensembl. | 1 | |
Natural variantiVAR_064873 | 173 | I → V1 PublicationCorresponds to variant dbSNP:rs147324438EnsemblClinVar. | 1 | |
Natural variantiVAR_064874 | 195 | V → I1 PublicationCorresponds to variant dbSNP:rs769407241Ensembl. | 1 | |
Natural variantiVAR_064875 | 251 | P → L1 Publication | 1 | |
Natural variantiVAR_064876 | 336 – 337 | ML → II. | 2 | |
Natural variantiVAR_064877 | 359 | H → R1 PublicationCorresponds to variant dbSNP:rs1331109571Ensembl. | 1 | |
Natural variantiVAR_064878 | 470 | A → D1 Publication | 1 | |
Natural variantiVAR_064879 | 479 | E → G1 Publication | 1 | |
Natural variantiVAR_064880 | 497 | N → K2 PublicationsCorresponds to variant dbSNP:rs35880456Ensembl. | 1 | |
Natural variantiVAR_075878 | 882 | V → A1 PublicationCorresponds to variant dbSNP:rs1393748204Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023511 | 1 – 105 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 105 | |
Alternative sequenceiVSP_023512 | 339 – 361 | HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3. 1 PublicationAdd BLAST | 23 | |
Alternative sequenceiVSP_023513 | 362 – 888 | Missing in isoform 3. 1 PublicationAdd BLAST | 527 |
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 |
CCDSi | CCDS35215.2 [Q96NR3-1] |
RefSeqi | NP_775766.2, NM_173495.2 [Q96NR3-1] XP_011543751.1, XM_011545449.2 [Q96NR3-1] |
Genome annotation databases
Ensembli | ENST00000379361; ENSP00000368666; ENSG00000165186 [Q96NR3-1] |
GeneIDi | 139411 |
KEGGi | hsa:139411 |
UCSCi | uc064yif.1, human [Q96NR3-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS35215.2 [Q96NR3-1] |
RefSeqi | NP_775766.2, NM_173495.2 [Q96NR3-1] XP_011543751.1, XM_011545449.2 [Q96NR3-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
STRINGi | 9606.ENSP00000368666 |
PTM databases
GlyGeni | Q96NR3, 10 sites |
iPTMneti | Q96NR3 |
PhosphoSitePlusi | Q96NR3 |
Polymorphism and mutation databases
BioMutai | PTCHD1 |
DMDMi | 146331074 |
Proteomic databases
jPOSTi | Q96NR3 |
PaxDbi | Q96NR3 |
PeptideAtlasi | Q96NR3 |
PRIDEi | Q96NR3 |
ProteomicsDBi | 77545 [Q96NR3-1] 77546 [Q96NR3-2] 77547 [Q96NR3-3] |
Protocols and materials databases
Antibodypediai | 55285, 93 antibodies |
Genome annotation databases
Ensembli | ENST00000379361; ENSP00000368666; ENSG00000165186 [Q96NR3-1] |
GeneIDi | 139411 |
KEGGi | hsa:139411 |
UCSCi | uc064yif.1, human [Q96NR3-1] |
Organism-specific databases
CTDi | 139411 |
DisGeNETi | 139411 |
EuPathDBi | HostDB:ENSG00000165186.10 |
GeneCardsi | PTCHD1 |
HGNCi | HGNC:26392, PTCHD1 |
HPAi | ENSG00000165186, Tissue enhanced (brain) |
MalaCardsi | PTCHD1 |
MIMi | 300828, gene 300830, phenotype |
neXtProti | NX_Q96NR3 |
OpenTargetsi | ENSG00000165186 |
Orphaneti | 106, NON RARE IN EUROPE: Autism 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA134942420 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1934, Eukaryota |
GeneTreei | ENSGT00940000157080 |
HOGENOMi | CLU_1051839_0_0_1 |
InParanoidi | Q96NR3 |
OMAi | FIMLGHG |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q96NR3 |
TreeFami | TF331806 |
Enzyme and pathway databases
PathwayCommonsi | Q96NR3 |
Miscellaneous databases
BioGRID-ORCSi | 139411, 3 hits in 468 CRISPR screens |
ChiTaRSi | PTCHD1, human |
GenomeRNAii | 139411 |
Pharosi | Q96NR3, Tbio |
PROi | PR:Q96NR3 |
RNActi | Q96NR3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165186, Expressed in cerebellum and 137 other tissues |
ExpressionAtlasi | Q96NR3, baseline and differential |
Genevisiblei | Q96NR3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003392, Ptc/Disp IPR000731, SSD |
Pfami | View protein in Pfam PF02460, Patched, 1 hit |
PROSITEi | View protein in PROSITE PS50156, SSD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PTHD1_HUMAN | |
Accessioni | Q96NR3Primary (citable) accession number: Q96NR3 Secondary accession number(s): B4DQH0, Q0IJ60, Q6P6B8 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations