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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-Experimental evidence at transcript leveli

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

  • cognition Source: UniProtKB
  • smoothened signaling pathway Source: UniProtKB
  • social behavior Source: UniProtKB
  • thalamus development Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165186-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Patched domain-containing protein 1Curated
Gene namesi
Name:PTCHD1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:26392. PTCHD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & 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.
See also OMIM:300830

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNETi139411.
MalaCardsiPTCHD1.
MIMi300830. phenotype.
OpenTargetsiENSG00000165186.
Orphaneti106. Autism.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA134942420.

Polymorphism and mutation databases

BioMutaiPTCHD1.
DMDMi146331074.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002800401 – 888Patched domain-containing protein 1Add BLAST888

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi77N-linked (GlcNAc...)Sequence analysis1
Glycosylationi133N-linked (GlcNAc...)Sequence analysis1
Glycosylationi167N-linked (GlcNAc...)Sequence analysis1
Glycosylationi319N-linked (GlcNAc...)Sequence analysis1
Glycosylationi326N-linked (GlcNAc...)Sequence analysis1
Glycosylationi568N-linked (GlcNAc...)Sequence analysis1
Glycosylationi599N-linked (GlcNAc...)Sequence analysis1
Glycosylationi608N-linked (GlcNAc...)Sequence analysis1
Glycosylationi762N-linked (GlcNAc...)Sequence analysis1
Glycosylationi818N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96NR3.
PeptideAtlasiQ96NR3.
PRIDEiQ96NR3.

PTM databases

PhosphoSitePlusiQ96NR3.

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

BgeeiENSG00000165186.
CleanExiHS_PTCHD1.
ExpressionAtlasiQ96NR3. baseline and differential.
GenevisibleiQ96NR3. HS.

Organism-specific databases

HPAiHPA046110.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000368666.

Structurei

3D structure databases

ProteinModelPortaliQ96NR3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini268 – 427SSDPROSITE-ProRule annotationAdd BLAST160

Sequence similaritiesi

Belongs to the patched family.Curated
Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1934. Eukaryota.
ENOG410XRZ4. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ96NR3.
OMAiILFNYLY.
OrthoDBiEOG091G01OS.
PhylomeDBiQ96NR3.
TreeFamiTF331806.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_07587651S → N Found in a patient with intellectual disability; unknown pathological significance. 1 Publication1
Natural variantiVAR_06487273L → F.1 PublicationCorresponds to variant rs373105249dbSNPEnsembl.1
Natural variantiVAR_07587782R → H.1 PublicationCorresponds to variant rs371935424dbSNPEnsembl.1
Natural variantiVAR_064873173I → V.1 PublicationCorresponds to variant rs147324438dbSNPEnsembl.1
Natural variantiVAR_064874195V → I.1 PublicationCorresponds to variant rs769407241dbSNPEnsembl.1
Natural variantiVAR_064875251P → L.1 Publication1
Natural variantiVAR_064876336 – 337ML → II.2
Natural variantiVAR_064877359H → R.1 Publication1
Natural variantiVAR_064878470A → D.1 Publication1
Natural variantiVAR_064879479E → G.1 Publication1
Natural variantiVAR_064880497N → K.2 PublicationsCorresponds to variant rs35880456dbSNPEnsembl.1
Natural variantiVAR_075878882V → A.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.319503.
Hs.552176.

Genome annotation databases

EnsembliENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
ENST00000616022; ENSP00000478663; ENSG00000165186. [Q96NR3-3]
GeneIDi139411.
KEGGihsa:139411.
UCSCiuc064yif.1. human. [Q96NR3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.319503.
Hs.552176.

3D structure databases

ProteinModelPortaliQ96NR3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000368666.

PTM databases

PhosphoSitePlusiQ96NR3.

Polymorphism and mutation databases

BioMutaiPTCHD1.
DMDMi146331074.

Proteomic databases

PaxDbiQ96NR3.
PeptideAtlasiQ96NR3.
PRIDEiQ96NR3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
ENST00000616022; ENSP00000478663; ENSG00000165186. [Q96NR3-3]
GeneIDi139411.
KEGGihsa:139411.
UCSCiuc064yif.1. human. [Q96NR3-1]

Organism-specific databases

CTDi139411.
DisGeNETi139411.
GeneCardsiPTCHD1.
GeneReviewsiPTCHD1.
H-InvDBHIX0016700.
HGNCiHGNC:26392. PTCHD1.
HPAiHPA046110.
MalaCardsiPTCHD1.
MIMi300828. gene.
300830. phenotype.
neXtProtiNX_Q96NR3.
OpenTargetsiENSG00000165186.
Orphaneti106. Autism.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA134942420.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1934. Eukaryota.
ENOG410XRZ4. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ96NR3.
OMAiILFNYLY.
OrthoDBiEOG091G01OS.
PhylomeDBiQ96NR3.
TreeFamiTF331806.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165186-MONOMER.

Miscellaneous databases

GenomeRNAii139411.
PROiQ96NR3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165186.
CleanExiHS_PTCHD1.
ExpressionAtlasiQ96NR3. baseline and differential.
GenevisibleiQ96NR3. HS.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPTHD1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 105 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.