Q96NR3 (PTHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Patched domain-containing protein 1

Gene names

Name:

PTCHD1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	888 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cognition Inferred from mutant phenotype Ref.4. Source: UniProtKB smoothened signaling pathway Inferred from direct assay Ref.4. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay Ref.4. Source: UniProtKB
Molecular_function	hedgehog 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 888	888	Patched domain-containing protein 1		PRO_0000280040
Regions
	Transmembrane	20 – 40	21	Helical; Potential
	Transmembrane	273 – 293	21	Helical; Potential
	Transmembrane	298 – 318	21	Helical; Potential
	Transmembrane	328 – 348	21	Helical; Potential
	Transmembrane	373 – 393	21	Helical; Potential
	Transmembrane	407 – 427	21	Helical; Potential
	Transmembrane	502 – 522	21	Helical; Potential
	Transmembrane	707 – 727	21	Helical; Potential
	Transmembrane	738 – 758	21	Helical; Potential
	Transmembrane	795 – 815	21	Helical; Potential
	Transmembrane	826 – 846	21	Helical; Potential
	Domain	268 – 427	160	SSD
Amino acid modifications
	Glycosylation	77	1	N-linked (GlcNAc...) Potential
	Glycosylation	133	1	N-linked (GlcNAc...) Potential
	Glycosylation	167	1	N-linked (GlcNAc...) Potential
	Glycosylation	319	1	N-linked (GlcNAc...) Potential
	Glycosylation	326	1	N-linked (GlcNAc...) Potential
	Glycosylation	568	1	N-linked (GlcNAc...) Potential
	Glycosylation	599	1	N-linked (GlcNAc...) Potential
	Glycosylation	608	1	N-linked (GlcNAc...) Potential
	Glycosylation	762	1	N-linked (GlcNAc...) Potential
	Glycosylation	818	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 105	105	Missing in isoform 2 and isoform 3.		VSP_023511
	Alternative sequence	339 – 361	23	HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3.		VSP_023512
	Alternative sequence	362 – 888	527	Missing in isoform 3.		VSP_023513
	Natural variant	73	1	L → F. Ref.4		VAR_064872
	Natural variant	173	1	I → V. Ref.4		VAR_064873
	Natural variant	195	1	V → I. Ref.4		VAR_064874
	Natural variant	251	1	P → L. Ref.4		VAR_064875
	Natural variant	336 – 337	2	ML → II.		VAR_064876
	Natural variant	359	1	H → R. Ref.4		VAR_064877
	Natural variant	470	1	A → D. Ref.4		VAR_064878
	Natural variant	479	1	E → G. Ref.4		VAR_064879
	Natural variant	497	1	N → K. Ref.4 Corresponds to variant rs35880456 [ dbSNP | Ensembl ].		VAR_064880
Experimental info
	Sequence conflict	5	1	V → A in BAG60932. Ref.1
	Sequence conflict	587	1	W → R in BAB70816. Ref.1
	Sequence conflict	774	1	T → A in BAB70816. Ref.1
	Sequence conflict	883	1	D → V in BAG60932. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 6, 2007. Version 2. Checksum: 189E1C453CBF548F	FASTA	888	101,341
	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
	Isoform 2 [UniParc]. Checksum: 8EF444616F4B95E4	FASTA	783	89,431
	10 20 30 40 50 60 MLDQHHTDLI LKLHAAVTKI QVPRPGFNYT FAHICILNND KTCIVDDIVH VLEELKNARA 70 80 90 100 110 120 TNRTNFAITY PITHLKDGRA VYNGHQLGGV TVHSKDRVKS AEAIQLTYYL QSINSLNDMV 130 140 150 160 170 180 AERWESSFCD TVRLFQKSNS KVKMYPYTSS SLREDFQKTS RVSERYLVTS LILVVTMAIL 190 200 210 220 230 240 CCSMQDCVRS KPWLGLLGLV TISLATLTAA GIINLTGGKY NSTFLGVPFV MLGHGLYGTF 250 260 270 280 290 300 EMLSSWRKTR EDQHVKERTA AVYADSMLSF SLTTAMYLVT FGIGASPFTN IEAARIFCCN 310 320 330 340 350 360 SCIAIFFNYL YVLSFYGSSL VFTGYIENNY QHSIFCRKVP KPEALQEKPA WYRFLLTARF 370 380 390 400 410 420 SEDTAEGEEA NTYESHLLVC FLKRYYCDWI TNTYVKPFVV LFYLIYISFA LMGYLQVSEG 430 440 450 460 470 480 SDLSNIVATA TQTIEYTTAQ QKYFSNYSPV IGFYIYESIE YWNTSVQEDV LEYTKGFVRI 490 500 510 520 530 540 SWFESYLNYL RKLNVSTGLP KKNFTDMLRN SFLKAPQFSH FQEDIIFSKK YNDEVDVVAS 550 560 570 580 590 600 RMFLVAKTME TNREELYDLL ETLRRLSVTS KVKFIVFNPS FVYMDRYASS LGAPLHNSCI 610 620 630 640 650 660 SALFLLFFSA FLVADSLINV WITLTVVSVE FGVIGFMTLW KVELDCISVL CLIYGINYTI 670 680 690 700 710 720 DNCAPMLSTF VLGKDFTRTK WVKNALEVHG VAILQSYLCY IVGLIPLAAV PSNLTCTLFR 730 740 750 760 770 780 CLFLIAFVTF FHCFAILPVI LTFLPPSKKK RKEKKNPENR EEIECVEMVD IDSTRVVDQI TTV
	Isoform 3 [UniParc]. Checksum: 9D6EE33CA399D976	FASTA	256	28,889
	10 20 30 40 50 60 MLDQHHTDLI LKLHAAVTKI QVPRPGFNYT FAHICILNND KTCIVDDIVH VLEELKNARA 70 80 90 100 110 120 TNRTNFAITY PITHLKDGRA VYNGHQLGGV TVHSKDRVKS AEAIQLTYYL QSINSLNDMV 130 140 150 160 170 180 AERWESSFCD TVRLFQKSNS KVKMYPYTSS SLREDFQKTS RVSERYLVTS LILVVTMAIL 190 200 210 220 230 240 CCSMQDCVRS KPWLGLLGLV TISLATLTAA GIINLTGGKY NSTFLGVPFV MLGNYYSSFF 250 CFRLLVVLTR FLKGQE

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00046790. IPI00829962. IPI00830017.
RefSeq	NP_775766.2. NM_173495.2.
UniGene	Hs.319503.
3D structure databases
ProteinModelPortal	Q96NR3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000368666.
PTM databases
PhosphoSite	Q96NR3.
Polymorphism databases
DMDM	146331074.
Proteomic databases
PaxDb	Q96NR3.
PRIDE	Q96NR3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000379361; ENSP00000368666; ENSG00000165186.
GeneID	139411.
KEGG	hsa:139411.
UCSC	uc004dal.4. human. uc010nfu.2. human.
Organism-specific databases
CTD	139411.
GeneCards	GC0XP023352.
H-InvDB	HIX0016700.
HGNC	HGNC:26392. PTCHD1.
HPA	HPA046110.
MIM	300828. gene.
neXtProt	NX_Q96NR3.
PharmGKB	PA134942420.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149152.
HOGENOM	HOG000049274.
HOVERGEN	HBG080559.
InParanoid	Q96NR3.
OMA	RFSEDTT.
OrthoDB	EOG43TZTW.
Gene expression databases
Bgee	Q96NR3.
CleanEx	HS_PTCHD1.
Genevestigator	Q96NR3.
Family and domain databases
InterPro	IPR003392. Patched. IPR000731. SSD. [Graphical view]
Pfam	PF02460. Patched. 1 hit. [Graphical view]
PROSITE	PS50156. SSD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	139411.
NextBio	83956.
SOURCE	Search...

Entry information

Entry name

PTHD1_HUMAN

Accession

Primary (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 3, 2013
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.