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Q96NR3 (PTHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patched domain-containing protein 1
Gene names
Name:PTCHD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length888 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cell membrane; Multi-pass membrane protein Ref.4.

Tissue specificity

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. Ref.4

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcognition

Inferred from mutant phenotype Ref.4. Source: UniProtKB

smoothened signaling pathway

Inferred from direct assay Ref.4. Source: UniProtKB

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from direct assay Ref.4. Source: UniProtKB

   Molecular_functionhedgehog receptor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96NR3-1)

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.
Isoform 2 (identifier: Q96NR3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.
Isoform 3 (identifier: Q96NR3-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 888888Patched domain-containing protein 1
PRO_0000280040

Regions

Transmembrane20 – 4021Helical; Potential
Transmembrane273 – 29321Helical; Potential
Transmembrane298 – 31821Helical; Potential
Transmembrane328 – 34821Helical; Potential
Transmembrane373 – 39321Helical; Potential
Transmembrane407 – 42721Helical; Potential
Transmembrane502 – 52221Helical; Potential
Transmembrane707 – 72721Helical; Potential
Transmembrane738 – 75821Helical; Potential
Transmembrane795 – 81521Helical; Potential
Transmembrane826 – 84621Helical; Potential
Domain268 – 427160SSD

Amino acid modifications

Glycosylation771N-linked (GlcNAc...) Potential
Glycosylation1331N-linked (GlcNAc...) Potential
Glycosylation1671N-linked (GlcNAc...) Potential
Glycosylation3191N-linked (GlcNAc...) Potential
Glycosylation3261N-linked (GlcNAc...) Potential
Glycosylation5681N-linked (GlcNAc...) Potential
Glycosylation5991N-linked (GlcNAc...) Potential
Glycosylation6081N-linked (GlcNAc...) Potential
Glycosylation7621N-linked (GlcNAc...) Potential
Glycosylation8181N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 105105Missing in isoform 2 and isoform 3.
VSP_023511
Alternative sequence339 – 36123HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3.
VSP_023512
Alternative sequence362 – 888527Missing in isoform 3.
VSP_023513
Natural variant731L → F. Ref.4
VAR_064872
Natural variant1731I → V. Ref.4
VAR_064873
Natural variant1951V → I. Ref.4
VAR_064874
Natural variant2511P → L. Ref.4
VAR_064875
Natural variant336 – 3372ML → II.
VAR_064876
Natural variant3591H → R. Ref.4
VAR_064877
Natural variant4701A → D. Ref.4
VAR_064878
Natural variant4791E → G. Ref.4
VAR_064879
Natural variant4971N → K. Ref.4
Corresponds to variant rs35880456 [ dbSNP | Ensembl ].
VAR_064880

Experimental info

Sequence conflict51V → A in BAG60932. Ref.1
Sequence conflict5871W → R in BAB70816. Ref.1
Sequence conflict7741T → A in BAB70816. Ref.1
Sequence conflict8831D → V in BAG60932. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 6, 2007. Version 2.
Checksum: 189E1C453CBF548F

FASTA888101,341
        10         20         30         40         50         60 
MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE SVEHLLAPQH 

        70         80         90        100        110        120 
SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS FQKANMLDQH HTDLILKLHA 

       130        140        150        160        170        180 
AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV DDIVHVLEEL KNARATNRTN FAITYPITHL 

       190        200        210        220        230        240 
KDGRAVYNGH QLGGVTVHSK DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF 

       250        260        270        280        290        300 
QKSNSKVKMY PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG 

       310        320        330        340        350        360 
LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS WRKTREDQHV 

       370        380        390        400        410        420 
KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR IFCCNSCIAI FFNYLYVLSF 

       430        440        450        460        470        480 
YGSSLVFTGY IENNYQHSIF CRKVPKPEAL QEKPAWYRFL LTARFSEDTA EGEEANTYES 

       490        500        510        520        530        540 
HLLVCFLKRY YCDWITNTYV KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE 

       550        560        570        580        590        600 
YTTAQQKYFS NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV 

       610        620        630        640        650        660 
STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV AKTMETNREE 

       670        680        690        700        710        720 
LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL HNSCISALFL LFFSAFLVAD 

       730        740        750        760        770        780 
SLINVWITLT VVSVEFGVIG FMTLWKVELD CISVLCLIYG INYTIDNCAP MLSTFVLGKD 

       790        800        810        820        830        840 
FTRTKWVKNA LEVHGVAILQ SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA 

       850        860        870        880 
ILPVILTFLP PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV 

« Hide

Isoform 2 [UniParc].

Checksum: 8EF444616F4B95E4
Show »

FASTA78389,431
Isoform 3 [UniParc].

Checksum: 9D6EE33CA399D976
Show »

FASTA25628,889

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Cerebellum and Teratocarcinoma.
[2]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Tissue: Ovary.
[4]"Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability."
Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I., Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J., Pagnamenta A.T. expand/collapse author list , Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S., Stewart A.F., Roberts R., McPherson R., Guter S.J., Cook E.H. Jr., Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L., Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M., Liu X., Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W., Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F., Schwartz C.E., Schachar R.J., Monaco A.P., Rouleau G.A., Hui C.C., Lucy Raymond F., Scherer S.W., Vincent J.B.
Sci. Transl. Med. 2:49RA68-49RA68(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS PHE-73; VAL-173; ILE-195; LEU-251; 336-ILE-ILE-337; ARG-359; ASP-470; GLY-479 AND LYS-497.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_775766.2. NM_173495.2.
UniGeneHs.319503.

3D structure databases

ProteinModelPortalQ96NR3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000368666.

PTM databases

PhosphoSiteQ96NR3.

Polymorphism databases

DMDM146331074.

Proteomic databases

PaxDbQ96NR3.
PRIDEQ96NR3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
GeneID139411.
KEGGhsa:139411.
UCSCuc004dal.4. human. [Q96NR3-1]
uc010nfu.2. human. [Q96NR3-3]

Organism-specific databases

CTD139411.
GeneCardsGC0XP023352.
H-InvDBHIX0016700.
HGNCHGNC:26392. PTCHD1.
HPAHPA046110.
MIM300828. gene.
neXtProtNX_Q96NR3.
PharmGKBPA134942420.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149152.
HOGENOMHOG000049274.
HOVERGENHBG080559.
InParanoidQ96NR3.
OMAFSEDTTE.
OrthoDBEOG718KCB.
PhylomeDBQ96NR3.
TreeFamTF331806.

Gene expression databases

BgeeQ96NR3.
CleanExHS_PTCHD1.
GenevestigatorQ96NR3.

Family and domain databases

InterProIPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamPF02460. Patched. 1 hit.
[Graphical view]
PROSITEPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi139411.
NextBio83956.
PROQ96NR3.
SOURCESearch...

Entry information

Entry namePTHD1_HUMAN
AccessionPrimary (citable) accession number: Q96NR3
Secondary accession number(s): B4DQH0, Q0IJ60, Q6P6B8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: April 16, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM