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Q96NR3

- PTHD1_HUMAN

UniProt

Q96NR3 - PTHD1_HUMAN

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Protein
Patched domain-containing protein 1
Gene
PTCHD1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. hedgehog receptor activity Source: InterPro

GO - Biological processi

  1. cognition Source: UniProtKB
  2. smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Patched domain-containing protein 1
Gene namesi
Name:PTCHD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:26392. PTCHD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021Helical; Reviewed prediction
Add
BLAST
Transmembranei273 – 29321Helical; Reviewed prediction
Add
BLAST
Transmembranei298 – 31821Helical; Reviewed prediction
Add
BLAST
Transmembranei328 – 34821Helical; Reviewed prediction
Add
BLAST
Transmembranei373 – 39321Helical; Reviewed prediction
Add
BLAST
Transmembranei407 – 42721Helical; Reviewed prediction
Add
BLAST
Transmembranei502 – 52221Helical; Reviewed prediction
Add
BLAST
Transmembranei707 – 72721Helical; Reviewed prediction
Add
BLAST
Transmembranei738 – 75821Helical; Reviewed prediction
Add
BLAST
Transmembranei795 – 81521Helical; Reviewed prediction
Add
BLAST
Transmembranei826 – 84621Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134942420.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 888888Patched domain-containing protein 1
PRO_0000280040Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi77 – 771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi133 – 1331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi167 – 1671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi319 – 3191N-linked (GlcNAc...) Reviewed prediction
Glycosylationi326 – 3261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi568 – 5681N-linked (GlcNAc...) Reviewed prediction
Glycosylationi599 – 5991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi608 – 6081N-linked (GlcNAc...) Reviewed prediction
Glycosylationi762 – 7621N-linked (GlcNAc...) Reviewed prediction
Glycosylationi818 – 8181N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96NR3.
PRIDEiQ96NR3.

PTM databases

PhosphoSiteiQ96NR3.

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

BgeeiQ96NR3.
CleanExiHS_PTCHD1.
GenevestigatoriQ96NR3.

Organism-specific databases

HPAiHPA046110.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000368666.

Structurei

3D structure databases

ProteinModelPortaliQ96NR3.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini268 – 427160SSD
Add
BLAST

Sequence similaritiesi

Belongs to the patched family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG149152.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ96NR3.
OMAiFSEDTTE.
OrthoDBiEOG718KCB.
PhylomeDBiQ96NR3.
TreeFamiTF331806.

Family and domain databases

InterProiIPR003392. Patched.
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. Align

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

MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE    50
SVEHLLAPQH SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS 100
FQKANMLDQH HTDLILKLHA AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV 150
DDIVHVLEEL KNARATNRTN FAITYPITHL KDGRAVYNGH QLGGVTVHSK 200
DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF QKSNSKVKMY 250
PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG 300
LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS 350
WRKTREDQHV KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR 400
IFCCNSCIAI FFNYLYVLSF YGSSLVFTGY IENNYQHSIF CRKVPKPEAL 450
QEKPAWYRFL LTARFSEDTA EGEEANTYES HLLVCFLKRY YCDWITNTYV 500
KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE YTTAQQKYFS 550
NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV 600
STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV 650
AKTMETNREE LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL 700
HNSCISALFL LFFSAFLVAD SLINVWITLT VVSVEFGVIG FMTLWKVELD 750
CISVLCLIYG INYTIDNCAP MLSTFVLGKD FTRTKWVKNA LEVHGVAILQ 800
SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA ILPVILTFLP 850
PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV 888
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731L → F.1 Publication
VAR_064872
Natural varianti173 – 1731I → V.1 Publication
VAR_064873
Natural varianti195 – 1951V → I.1 Publication
VAR_064874
Natural varianti251 – 2511P → L.1 Publication
VAR_064875
Natural varianti336 – 3372ML → II.
VAR_064876
Natural varianti359 – 3591H → R.1 Publication
VAR_064877
Natural varianti470 – 4701A → D.1 Publication
VAR_064878
Natural varianti479 – 4791E → G.1 Publication
VAR_064879
Natural varianti497 – 4971N → K.1 Publication
Corresponds to variant rs35880456 [ dbSNP | Ensembl ].
VAR_064880

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 105105Missing in isoform 2 and isoform 3.
VSP_023511Add
BLAST
Alternative sequencei339 – 36123HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3.
VSP_023512Add
BLAST
Alternative sequencei362 – 888527Missing in isoform 3.
VSP_023513Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51V → A in BAG60932. 1 Publication
Sequence conflicti587 – 5871W → R in BAB70816. 1 Publication
Sequence conflicti774 – 7741T → A in BAB70816. 1 Publication
Sequence conflicti883 – 8831D → V in BAG60932. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.319503.

Genome annotation databases

EnsembliENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
GeneIDi139411.
KEGGihsa:139411.
UCSCiuc004dal.4. human. [Q96NR3-1]
uc010nfu.2. human. [Q96NR3-3]

Polymorphism databases

DMDMi146331074.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.319503.

3D structure databases

ProteinModelPortali Q96NR3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000368666.

PTM databases

PhosphoSitei Q96NR3.

Polymorphism databases

DMDMi 146331074.

Proteomic databases

PaxDbi Q96NR3.
PRIDEi Q96NR3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000379361 ; ENSP00000368666 ; ENSG00000165186 . [Q96NR3-1 ]
GeneIDi 139411.
KEGGi hsa:139411.
UCSCi uc004dal.4. human. [Q96NR3-1 ]
uc010nfu.2. human. [Q96NR3-3 ]

Organism-specific databases

CTDi 139411.
GeneCardsi GC0XP023352.
GeneReviewsi PTCHD1.
H-InvDB HIX0016700.
HGNCi HGNC:26392. PTCHD1.
HPAi HPA046110.
MIMi 300828. gene.
neXtProti NX_Q96NR3.
PharmGKBi PA134942420.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149152.
HOGENOMi HOG000049274.
HOVERGENi HBG080559.
InParanoidi Q96NR3.
OMAi FSEDTTE.
OrthoDBi EOG718KCB.
PhylomeDBi Q96NR3.
TreeFami TF331806.

Miscellaneous databases

GenomeRNAii 139411.
NextBioi 83956.
PROi Q96NR3.
SOURCEi Search...

Gene expression databases

Bgeei Q96NR3.
CleanExi HS_PTCHD1.
Genevestigatori Q96NR3.

Family and domain databases

InterProi IPR003392. Patched.
IPR000731. SSD.
[Graphical view ]
Pfami PF02460. Patched. 1 hit.
[Graphical view ]
PROSITEi PS50156. SSD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.
    , 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.

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: July 9, 2014
This is version 87 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

External Data

Dasty 3

Similar proteinsi