Q13635 (PTC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein patched homolog 1
Short name=PTC
Short name=PTC1

Gene names

Name:	PTCH1
Synonyms:	PTCH

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	1447 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.
Subunit structure	Interacts with SNX17. Ref.7
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
Developmental stage	In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.
Post-translational modification	Glycosylation is necessary for SHH binding By similarity.
Involvement in disease	Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.12 Ref.14 Ref.18 Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.12 Holoprosencephaly 7 (HPE7) [MIM:610828]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.19 Ref.20
Sequence similarities	Belongs to the patched family. Contains 1 SSD (sterol-sensing) domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Holoprosencephaly Tumor suppressor
Domain	Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	brain development Inferred from sequence or structural similarity. Source: BHF-UCL branching involved in ureteric bud morphogenesis Inferred from electronic annotation. Source: Compara cell differentiation involved in kidney development Inferred from electronic annotation. Source: Compara cell proliferation involved in metanephros development Inferred from electronic annotation. Source: Compara cellular response to cholesterol Inferred from mutant phenotype PubMed 11278759. Source: BHF-UCL dorsal/ventral neural tube patterning Inferred from electronic annotation. Source: Compara dorsal/ventral pattern formation Inferred from sequence or structural similarity. Source: UniProtKB embryonic limb morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB epidermis development Inferred from electronic annotation. Source: Compara glucose homeostasis Inferred from electronic annotation. Source: Compara heart morphogenesis Inferred from electronic annotation. Source: Compara hindlimb morphogenesis Inferred from electronic annotation. Source: Compara keratinocyte proliferation Inferred from electronic annotation. Source: Compara mammary gland duct morphogenesis Inferred from electronic annotation. Source: Compara mammary gland epithelial cell differentiation Inferred from electronic annotation. Source: Compara negative regulation of cell division Inferred from electronic annotation. Source: Compara negative regulation of epithelial cell proliferation Inferred from electronic annotation. Source: Compara negative regulation of multicellular organism growth Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of osteoblast differentiation Inferred from mutant phenotype PubMed 16229683. Source: BHF-UCL negative regulation of sequence-specific DNA binding transcription factor activity Inferred from mutant phenotype PubMed 16229683. Source: BHF-UCL negative regulation of smoothened signaling pathway Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype PubMed 16229683. Source: BHF-UCL neural plate axis specification Inferred from sequence or structural similarity. Source: BHF-UCL neural tube closure Inferred from electronic annotation. Source: Compara neural tube patterning Inferred from mutant phenotype PubMed 8681379. Source: BHF-UCL organ morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB pharyngeal system development Inferred from mutant phenotype PubMed 8681379Ref.9. Source: BHF-UCL positive regulation of cholesterol efflux Inferred from direct assay PubMed 21931618. Source: BHF-UCL protein processing Inferred from sequence or structural similarity. Source: UniProtKB protein targeting to plasma membrane Inferred from direct assay PubMed 11278759. Source: BHF-UCL regulation of mitotic cell cycle Inferred from electronic annotation. Source: Compara regulation of protein localization Inferred from electronic annotation. Source: Compara renal system development Inferred from expression pattern PubMed 17850284. Source: UniProtKB response to chlorate Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from expression pattern PubMed 17850284. Source: UniProtKB somite development Inferred from mutant phenotype PubMed 8681379. Source: BHF-UCL
Cellular_component	caveola Inferred from direct assay PubMed 11278759. Source: BHF-UCL integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intracellular membrane-bounded organelle Inferred from direct assay PubMed 11278759. Source: BHF-UCL midbody Inferred from electronic annotation. Source: Compara perinuclear region of cytoplasm Inferred from direct assay PubMed 11278759. Source: BHF-UCL
Molecular_function	cholesterol binding Inferred from direct assay PubMed 21931618. Source: BHF-UCL hedgehog receptor activity Inferred from electronic annotation. Source: InterPro heparin binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform L (identifier: Q13635-1)

Also known as: 1B;

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 L' (identifier: Q13635-2)

Also known as: 1Ckid;

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MASAGNAAEP...DAAFALEQIS → MELLNRNRLV...DRGDKETRSD

Isoform M (identifier: Q13635-3)

Also known as: 1C;

The sequence of this isoform differs from the canonical sequence as follows:
     2-67: Missing.

Isoform S (identifier: Q13635-4)

Also known as: 1A; 1CdeltaE2;

The sequence of this isoform differs from the canonical sequence as follows:
     2-152: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1447	1447	Protein patched homolog 1		PRO_0000205964
Regions
	Topological domain	1 – 100	100	Cytoplasmic Potential
	Transmembrane	101 – 121	21	Helical; Potential
	Topological domain	122 – 436	315	Extracellular Potential
	Transmembrane	437 – 457	21	Helical; Potential
	Topological domain	458 – 472	15	Cytoplasmic Potential
	Transmembrane	473 – 493	21	Helical; Potential
	Topological domain	494 – 501	8	Extracellular Potential
	Transmembrane	502 – 522	21	Helical; Potential
	Topological domain	523 – 547	25	Cytoplasmic Potential
	Transmembrane	548 – 568	21	Helical; Potential
	Topological domain	569 – 577	9	Extracellular Potential
	Transmembrane	578 – 598	21	Helical; Potential
	Topological domain	599 – 748	150	Cytoplasmic Potential
	Transmembrane	749 – 769	21	Helical; Potential
	Topological domain	770 – 1027	258	Extracellular Potential
	Transmembrane	1028 – 1048	21	Helical; Potential
	Topological domain	1049 – 1055	7	Cytoplasmic Potential
	Transmembrane	1056 – 1076	21	Helical; Potential
	Topological domain	1077 – 1083	7	Extracellular Potential
	Transmembrane	1084 – 1104	21	Helical; Potential
	Topological domain	1105 – 1121	17	Cytoplasmic Potential
	Transmembrane	1122 – 1141	20	Helical; Potential
	Topological domain	1142 – 1154	13	Extracellular Potential
	Transmembrane	1155 – 1175	21	Helical; Potential
	Topological domain	1176 – 1447	272	Cytoplasmic Potential
	Domain	438 – 598	161	SSD
	Compositional bias	14 – 31	18	Gly-rich
Amino acid modifications
	Glycosylation	141	1	N-linked (GlcNAc...) Potential
	Glycosylation	312	1	N-linked (GlcNAc...) Potential
	Glycosylation	349	1	N-linked (GlcNAc...) Potential
	Glycosylation	414	1	N-linked (GlcNAc...) Potential
	Glycosylation	875	1	N-linked (GlcNAc...) Potential
	Glycosylation	1000	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 66	66	MASAG…LEQIS → MELLNRNRLVIVSPRCTPPK ASGGPARRGFYTFRSFCKDG GGGEEEEENGGEEKDDRGDK ETRSD in isoform L'.		VSP_041369
	Alternative sequence	2 – 152	151	Missing in isoform S.		VSP_041370
	Alternative sequence	2 – 67	66	Missing in isoform M.		VSP_041371
	Natural variant	175	1	L → P in BCNS; sporadic BCC. Ref.1		VAR_007843
	Natural variant	230	1	T → P in BCNS. Ref.18		VAR_020845
	Natural variant	376	1	F → S in BCNS. Ref.12		VAR_007844
	Natural variant	393	1	A → T in HPE7. Ref.16		VAR_032952
	Natural variant	443	1	A → G in HPE7. Ref.20		VAR_032953
	Natural variant	505 – 506	2	FL → LR in BCNS.		VAR_020846
	Natural variant	509	1	G → R in BCNS; could be a rare polymorphism. Ref.8		VAR_010974
	Natural variant	509	1	G → V in BCNS. Ref.8		VAR_010975
	Natural variant	513	1	D → Y in BCNS. Ref.9		VAR_010976
	Natural variant	728	1	T → M in HPE7. Ref.16 Ref.19 Corresponds to variant rs28936404 [ dbSNP | Ensembl ].		VAR_032954
	Natural variant	751	1	V → G in HPE7. Ref.20		VAR_032955
	Natural variant	815	1	I → IPNI in BCNS.		VAR_007845
	Natural variant	816	1	Missing in BCNS. Ref.8		VAR_010977
	Natural variant	827	1	S → G in HPE7. Ref.16		VAR_032956
	Natural variant	829	1	V → M in squamous cell carcinoma. Ref.15		VAR_010978
	Natural variant	908	1	V → G in HPE7. Ref.20		VAR_032957
	Natural variant	1052	1	T → M in HPE7. Ref.16 Ref.20 Corresponds to variant rs28936405 [ dbSNP | Ensembl ].		VAR_032958
	Natural variant	1069	1	G → R in BCNS. Ref.9		VAR_010979
	Natural variant	1083	1	V → VV in BCNS. Ref.12		VAR_007846
	Natural variant	1114	1	R → W in BCNS and BCC. Ref.12		VAR_007847
	Natural variant	1132	1	S → P in BCNS. Ref.14		VAR_010980
	Natural variant	1132	1	S → Y in BCNS. Ref.8		VAR_010981
	Natural variant	1195	1	T → S. Corresponds to variant rs2236405 [ dbSNP | Ensembl ].		VAR_020440
	Natural variant	1242	1	E → K in squamous cell carcinoma. Ref.15		VAR_010982
	Natural variant	1282	1	P → L. Corresponds to variant rs2227968 [ dbSNP | Ensembl ].		VAR_020847
	Natural variant	1315	1	P → L. Ref.1 Ref.2 Ref.11 Ref.13 Corresponds to variant rs357564 [ dbSNP | Ensembl ].		VAR_010983
	Natural variant	1438	1	E → D in BCNS; sporadic NBCCS. Ref.10		VAR_010984
Experimental info
	Sequence conflict	1109	1	G → S in AAC50496. Ref.2
	Sequence conflict	1144	1	E → D in AAC50496. Ref.2
	Sequence conflict	1175	1	L → W in AAC50496. Ref.2
	Sequence conflict	1283	1	R → K in AAC50496. Ref.2
	Sequence conflict	1309	1	E → K in AAC50496. Ref.2
	Sequence conflict	1353	1	A → T in AAC50496. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform L (1B) [UniParc]. Last modified October 23, 2007. Version 2. Checksum: F2937247BC812F85	FASTA	1,447	160,545
	10 20 30 40 50 60 MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF 70 80 90 100 110 120 ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN 130 140 150 160 170 180 LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD 190 200 210 220 230 240 SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK 250 260 270 280 290 300 LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA 310 320 330 340 350 360 DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL 370 380 390 400 410 420 QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL 430 440 450 460 470 480 SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS 490 500 510 520 530 540 VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC 550 560 570 580 590 600 LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL 610 620 630 640 650 660 YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS 670 680 690 700 710 720 TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL 730 740 750 760 770 780 HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI 790 800 810 820 830 840 VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL 850 860 870 880 890 900 PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS 910 920 930 940 950 960 QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR 970 980 990 1000 1010 1020 LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ 1030 1040 1050 1060 1070 1080 YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA 1090 1100 1110 1120 1130 1140 VPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML 1150 1160 1170 1180 1190 1200 AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP 1210 1220 1230 1240 1250 1260 PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE 1270 1280 1290 1300 1310 1320 NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPPYRPRR 1330 1340 1350 1360 1370 1380 DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA 1390 1400 1410 1420 1430 1440 VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN
	Isoform L' (1Ckid) [UniParc]. Checksum: E6AE7954E04633D1	FASTA	1,446	161,038
	10 20 30 40 50 60 MELLNRNRLV IVSPRCTPPK ASGGPARRGF YTFRSFCKDG GGGEEEEENG GEEKDDRGDK 70 80 90 100 110 120 ETRSDKGKAT GRKAPLWLRA KFQRLLFKLG CYIQKNCGKF LVVGLLIFGA FAVGLKAANL 130 140 150 160 170 180 ETNVEELWVE VGGRVSRELN YTRQKIGEEA MFNPQLMIQT PKEEGANVLT TEALLQHLDS 190 200 210 220 230 240 ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL 250 260 270 280 290 300 QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD 310 320 330 340 350 360 PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ 370 380 390 400 410 420 TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS 430 440 450 460 470 480 FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV 490 500 510 520 530 540 AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL 550 560 570 580 590 600 KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY 610 620 630 640 650 660 RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST 670 680 690 700 710 720 VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH 730 740 750 760 770 780 CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV 790 800 810 820 830 840 PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP 850 860 870 880 890 900 KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ 910 920 930 940 950 960 LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL 970 980 990 1000 1010 1020 RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY 1030 1040 1050 1060 1070 1080 IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAV 1090 1100 1110 1120 1130 1140 PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA 1150 1160 1170 1180 1190 1200 GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP 1210 1220 1230 1240 1250 1260 PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN 1270 1280 1290 1300 1310 1320 PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD 1330 1340 1350 1360 1370 1380 AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV 1390 1400 1410 1420 1430 1440 HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN
	Isoform M (1C) [UniParc]. Checksum: F37D7805A3C69472	FASTA	1,381	153,853
	10 20 30 40 50 60 MGKATGRKAP LWLRAKFQRL LFKLGCYIQK NCGKFLVVGL LIFGAFAVGL KAANLETNVE 70 80 90 100 110 120 ELWVEVGGRV SRELNYTRQK IGEEAMFNPQ LMIQTPKEEG ANVLTTEALL QHLDSALQAS 130 140 150 160 170 180 RVHVYMYNRQ WKLEHLCYKS GELITETGYM DQIIEYLYPC LIITPLDCFW EGAKLQSGTA 190 200 210 220 230 240 YLLGKPPLRW TNFDPLEFLE ELKKINYQVD SWEEMLNKAE VGHGYMDRPC LNPADPDCPA 250 260 270 280 290 300 TAPNKNSTKP LDMALVLNGG CHGLSRKYMH WQEELIVGGT VKNSTGKLVS AHALQTMFQL 310 320 330 340 350 360 MTPKQMYEHF KGYEYVSHIN WNEDKAAAIL EAWQRTYVEV VHQSVAQNST QKVLSFTTTT 370 380 390 400 410 420 LDDILKSFSD VSVIRVASGY LLMLAYACLT MLRWDCSKSQ GAVGLAGVLL VALSVAAGLG 430 440 450 460 470 480 LCSLIGISFN AATTQVLPFL ALGVGVDDVF LLAHAFSETG QNKRIPFEDR TGECLKRTGA 490 500 510 520 530 540 SVALTSISNV TAFFMAALIP IPALRAFSLQ AAVVVVFNFA MVLLIFPAIL SMDLYRREDR 550 560 570 580 590 600 RLDIFCCFTS PCVSRVIQVE PQAYTDTHDN TRYSPPPPYS SHSFAHETQI TMQSTVQLRT 610 620 630 640 650 660 EYDPHTHVYY TTAEPRSEIS VQPVTVTQDT LSCQSPESTS STRDLLSQFS DSSLHCLEPP 670 680 690 700 710 720 CTKWTLSSFA EKHYAPFLLK PKAKVVVIFL FLGLLGVSLY GTTRVRDGLD LTDIVPRETR 730 740 750 760 770 780 EYDFIAAQFK YFSFYNMYIV TQKADYPNIQ HLLYDLHRSF SNVKYVMLEE NKQLPKMWLH 790 800 810 820 830 840 YFRDWLQGLQ DAFDSDWETG KIMPNNYKNG SDDGVLAYKL LVQTGSRDKP IDISQLTKQR 850 860 870 880 890 900 LVDADGIINP SAFYIYLTAW VSNDPVAYAA SQANIRPHRP EWVHDKADYM PETRLRIPAA 910 920 930 940 950 960 EPIEYAQFPF YLNGLRDTSD FVEAIEKVRT ICSNYTSLGL SSYPNGYPFL FWEQYIGLRH 970 980 990 1000 1010 1020 WLLLFISVVL ACTFLVCAVF LLNPWTAGII VMVLALMTVE LFGMMGLIGI KLSAVPVVIL 1030 1040 1050 1060 1070 1080 IASVGIGVEF TVHVALAFLT AIGDKNRRAV LALEHMFAPV LDGAVSTLLG VLMLAGSEFD 1090 1100 1110 1120 1130 1140 FIVRYFFAVL AILTILGVLN GLVLLPVLLS FFGPYPEVSP ANGLNRLPTP SPEPPPSVVR 1150 1160 1170 1180 1190 1200 FAMPPGHTHS GSDSSDSEYS SQTTVSGLSE ELRHYEAQQG AGGPAHQVIV EATENPVFAH 1210 1220 1230 1240 1250 1260 STVVHPESRH HPPSNPRQQP HLDSGSLPPG RQGQQPRRDP PREGLWPPPY RPRRDAFEIS 1270 1280 1290 1300 1310 1320 TEGHSGPSNR ARWGPRGARS HNPRNPASTA MGSSVPGYCQ PITTVTASAS VTVAVHPPPV 1330 1340 1350 1360 1370 1380 PGPGRNPRGG LCPGYPETDH GLFEDPHVPF HVRCERRDSK VEVIELQDVE CEERPRGSSS N
	Isoform S (1A) (1CdeltaE2) [UniParc]. Checksum: 66CA1F5AE1BDCE61	FASTA	1,296	144,356
	10 20 30 40 50 60 MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT 70 80 90 100 110 120 ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI 130 140 150 160 170 180 NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS 190 200 210 220 230 240 RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK 250 260 270 280 290 300 AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA 310 320 330 340 350 360 YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG 370 380 390 400 410 420 VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR 430 440 450 460 470 480 AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT 490 500 510 520 530 540 DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT 550 560 570 580 590 600 VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV 610 620 630 640 650 660 VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD 670 680 690 700 710 720 YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN 730 740 750 760 770 780 NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP 790 800 810 820 830 840 VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI 850 860 870 880 890 900 EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW 910 920 930 940 950 960 TAGIIVMVLA LMTVELFGMM GLIGIKLSAV PVVILIASVG IGVEFTVHVA LAFLTAIGDK 970 980 990 1000 1010 1020 NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL 1030 1040 1050 1060 1070 1080 PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV 1090 1100 1110 1120 1130 1140 SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG 1150 1160 1170 1180 1190 1200 SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN 1210 1220 1230 1240 1250 1260 PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED 1270 1280 1290 PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human homolog of patched, a candidate gene for the basal cell nevus syndrome." Johnson R.L., Rothman A.L., Xie J., Goodrich L.V., Bare J.W., Bonifas J.M., Quinn A.G., Myers R.M., Cox D.R., Epstein E.H. Jr., Scott M.P. Science 272:1668-1671(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM L), VARIANTS BCC PRO-175; PRO-ASN-ILE-815 INS AND LEU-1315. Tissue: Lung.
[2]	"A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities." Hahn H., Christiansen J., Wicking C., Zaphiropolous P.G., Chidambaram A., Gerrard B., Vorechovsky I., Bale A.E., Toftgard R., Dean M., Wainwright B.J. J. Biol. Chem. 271:12125-12128(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM S), VARIANT LEU-1315. Tissue: Fetal brain.
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons." Nagao K., Toyoda M., Takeuchi-Inoue K., Fujii K., Yamada M., Miyashita T. Genomics 85:462-471(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-324 (ISOFORM L'), NUCLEOTIDE SEQUENCE [MRNA] OF 1-259 (ISOFORM M), NUCLEOTIDE SEQUENCE [MRNA] OF 1-174 (ISOFORM S), ALTERNATIVE SPLICING.
[5]	"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] OF 1-183 (ISOFORM M). Tissue: Brain.
[6]	"Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling." Shimokawa T., Svard J., Heby-Henricson K., Teglund S., Toftgard R., Zaphiropoulos P.G. Oncogene 26:4889-4896(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-90 (ISOFORM S), ALTERNATIVE SPLICING.
[7]	"Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking." Knauth P., Schlueter T., Czubayko M., Kirsch C., Florian V., Schreckenberger S., Hahn H., Bohnensack R. J. Mol. Biol. 347:813-825(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SNX17.
[8]	"Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients." Chidambaram A., Goldstein A.M., Gailani M.R., Gerrard B., Bale S.J., DiGiovanna J.J., Bale A.E., Dean M. Cancer Res. 56:4599-4601(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BCNS ARG-509; VAL-509; GLN-816 DEL AND TYR-1132.
[9]	"Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident." Wicking C., Shanley S., Smyth I., Gillies S., Negus K., Graham S., Suthers G., Haites N., Edwards M., Wainwright B.J., Chenevix-Trench G. Am. J. Hum. Genet. 60:21-26(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BCNS TYR-513 AND ARG-1069.
[10]	"Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome." Lench N.J., Telford E.A.R., High A.S., Markham A.F., Wicking C., Wainwright B.J. Hum. Genet. 100:497-502(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT NBCCS ASP-1438.
[11]	"Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene." Hasenpusch-Theil K., Bataille V., Laehdetie J., Obermayr F., Sampson J.R., Frischauf A.-M. Hum. Mutat. 11:480-480(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LEU-1315.
[12]	"Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome." Aszterbaum M., Rothman A.L., Johnson R.L., Fisher M., Xie J., Bonifas J.M., Zhang X., Scott M.P., Epstein E.H. Jr. J. Invest. Dermatol. 110:885-888(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BCNS SER-376 AND VAL-1083 INS, VARIANT BCC TRP-1114.
[13]	"Identification of PATCHED mutations in medulloblastomas by direct sequencing." Dong J., Gailani M.R., Pomeroy S.L., Reardon D., Bale A.E. Hum. Mutat. 16:89-90(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LEU-1315.
[14]	"Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer." Reifenberger J., Arnold N., Kiechle M., Reifenberger G., Hauschild A. J. Invest. Dermatol. 116:472-474(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BCNS PRO-1132.
[15]	"PTCH mutations in squamous cell carcinoma of the skin." Ping X.L., Ratner D., Zhang H., Wu X.L., Zhang M.J., Chen F.F., Silvers D.N., Peacocke M., Tsou H.C. J. Invest. Dermatol. 116:614-616(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SQUAMOUS CELL CARCINOMA MET-829 AND LYS-1242.
[16]	"Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly." Ming J.E., Kaupas M.E., Roessler E., Brunner H.G., Golabi M., Tekin M., Stratton R.F., Sujansky E., Bale S.J., Muenke M. Hum. Genet. 110:297-301(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE7 THR-393; MET-728; GLY-827 AND MET-1052.
[17]	Erratum Ming J.E., Kaupas M.E., Roessler E., Brunner H.G., Golabi M., Tekin M., Stratton R.F., Sujansky E., Bale S.J., Muenke M. Hum. Genet. 111:464-464(2002)
[18]	"Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles." Savino M., d'Apolito M., Formica V., Baorda F., Mari F., Renieri A., Carabba E., Tarantino E., Andreucci E., Belli S., Lo Muzio L., Dallapiccola B., Zelante L., Savoia A. Hum. Mutat. 24:441-441(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BCNS PRO-230 AND 505-LEU-ARG-506.
[19]	"GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?" Rahimov F., Ribeiro L.A., de Miranda E., Richieri-Costa A., Murray J.C. Am. J. Med. Genet. A 140:2571-2576(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HPE7 MET-728.
[20]	"PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI." Ribeiro L.A., Murray J.C., Richieri-Costa A. Am. J. Med. Genet. A 140:2584-2586(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE7 GLY-443; GLY-751; GLY-908 AND MET-1052.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U59464 mRNA. Translation: AAC50550.1. U43148 mRNA. Translation: AAC50496.1. AL161729 Genomic DNA. Translation: CAH73817.1. AL161729 Genomic DNA. Translation: CAH73818.1. AB189436 mRNA. Translation: BAD74184.1. AB189437 mRNA. Translation: BAD74185.1. AB189438 mRNA. Translation: BAD74186.1. AB189439 mRNA. Translation: BAD74187.1. AB189440 mRNA. Translation: BAD74188.1. BC043542 mRNA. Translation: AAH43542.1. AB239329 mRNA. Translation: BAF47712.1.
IPI	IPI00014374. IPI00643862. IPI00654901. IPI00844057.
RefSeq	NP_000255.2. NM_000264.3. NP_001077071.1. NM_001083602.1. NP_001077072.1. NM_001083603.1. NP_001077073.1. NM_001083604.1. NP_001077074.1. NM_001083605.1. NP_001077075.1. NM_001083606.1. NP_001077076.1. NM_001083607.1.
UniGene	Hs.494538.
3D structure databases
ProteinModelPortal	Q13635.
SMR	Q13635. Positions 1031-1098.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-44940N.
STRING	9606.ENSP00000332353.
PTM databases
PhosphoSite	Q13635.
Polymorphism databases
DMDM	160415977.
Proteomic databases
PaxDb	Q13635.
PRIDE	Q13635.
Protocols and materials databases
DNASU	5727.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331920; ENSP00000332353; ENSG00000185920. ENST00000375274; ENSP00000364423; ENSG00000185920. ENST00000418258; ENSP00000396135; ENSG00000185920. ENST00000421141; ENSP00000399981; ENSG00000185920. ENST00000429896; ENSP00000414823; ENSG00000185920. ENST00000430669; ENSP00000410287; ENSG00000185920. ENST00000437951; ENSP00000389744; ENSG00000185920. ENST00000468211; ENSP00000449745; ENSG00000185920. ENST00000546820; ENSP00000448843; ENSG00000185920. ENST00000547672; ENSP00000447878; ENSG00000185920. ENST00000551845; ENSP00000447008; ENSG00000185920. ENST00000553011; ENSP00000447797; ENSG00000185920.
GeneID	5727.
KEGG	hsa:5727.
UCSC	uc004avk.4. human. uc004avm.4. human. uc010mrr.3. human.
Organism-specific databases
CTD	5727.
GeneCards	GC09M098205.
HGNC	HGNC:9585. PTCH1.
HPA	CAB013717.
MIM	109400. phenotype. 601309. gene. 605462. phenotype. 610828. phenotype.
neXtProt	NX_Q13635.
Orphanet	93925. Alobar holoprosencephaly. 377. Gorlin syndrome. 93924. Lobar holoprosencephaly. 280200. Microform holoprosencephaly. 93926. Midline interhemispheric variant of holoprosencephaly. 220386. Semilobar holoprosencephaly. 280195. Septopreoptic holoprosencephaly.
PharmGKB	PA33937.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG313603.
HOVERGEN	HBG003801.
InParanoid	Q13635.
KO	K06225.
OMA	APDRDYL.
OrthoDB	EOG40S0DT.
PhylomeDB	Q13635.
Enzyme and pathway databases
Pathway_Interaction_DB	glypican_3pathway. Glypican 3 network. hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins. hedgehog_2pathway. Signaling events mediated by the Hedgehog family.
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	Q13635.
Bgee	Q13635.
CleanEx	HS_PTCH1.
Genevestigator	Q13635.
GermOnline	ENSG00000185920. Homo sapiens.
Family and domain databases
InterPro	IPR003392. Patched. IPR000731. SSD. IPR004766. TM_rcpt_patched. [Graphical view]
Pfam	PF02460. Patched. 1 hit. [Graphical view]
TIGRFAMs	TIGR00918. 2A060602. 1 hit.
PROSITE	PS50156. SSD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PTCH1. human.
GenomeRNAi	5727.
NextBio	22266.
SOURCE	Search...

Entry information

Entry name

PTC1_HUMAN

Accession

Primary (citable) accession number: Q13635
Secondary accession number(s): A3KBI9 , E9PEJ8, Q13463, Q5R1U7, Q5R1U9, Q5R1V0, Q5VZC0, Q5VZC2, Q86XG7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	October 23, 2007
Last modified:	May 1, 2013
This is version 134 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.