Antibody Name:	Anti-PTCH1 Antibody
Antibody SKU:	CAB14772
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 770-970 of human PTCH1 (NP_000255.2).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	Rat skeletal muscle

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 770-970 of human PTCH1 (NP_000255.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	RVRD GLDL TDIV PRET REYD FIAA QFKY FSFY NMYI VTQK ADYP NIQH LLYD LHRS FSNV KYVM LEEN KQLP KMWL HYFR DWLQ GLQD AFDS DWET GKIM PNNY KNGS DDGV LAYK LLVQ TGSR DKPI DISQ LTKQ RLVD ADGI INPS AFYI YLTA WVSN DPVA YAAS QANI RPHR PEWV HDKA DYMP ETRL RIPA AEPI E
Gene ID:	5727
Uniprot:	Q13635
Cellular Location:	Membrane, Multi-pass membrane protein
Calculated MW:	144kDa/153kDa/160kDa/161kDa
Observed MW:	160kDa

Synonyms:

PTCH1, BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11, patched 1

Background:

This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.

UniProt Protein Function:	PTCH1: a multi-pass membrane protein member of the ?patched? family that 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 protein?s signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Interacts with SNX17. Expressed in tumor cells but not in normal skin. 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. Defects in PTCH1 are the cause of basal cell nevus syndrome (BCNS), also known as Gorlin syndrome. BCNS is 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. PTCH1 defects is also the cause of holoprosencephaly, the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres.
UniProt Protein Details:	Protein type:Cell cycle regulation; Tumor suppressor; Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 9q22.3 Cellular Component: Golgi apparatus; intracellular membrane-bound organelle; perinuclear region of cytoplasm; postsynaptic density; integral to membrane; plasma membrane; caveola; midbody Molecular Function:heparin binding; cyclin binding; protein binding; hedgehog receptor activity; cholesterol binding; protein complex binding; patched binding; smoothened binding Biological Process: heart morphogenesis; hindlimb morphogenesis; epidermis development; regulation of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; glucose homeostasis; response to estradiol stimulus; response to chlorate; regulation of protein localization; negative regulation of osteoblast differentiation; negative regulation of epithelial cell proliferation; embryonic limb morphogenesis; response to drug; smoothened signaling pathway; response to retinoic acid; negative regulation of multicellular organism growth; pharyngeal system development; in utero embryonic development; negative regulation of transcription factor activity; neural tube patterning; negative regulation of cell division; keratinocyte proliferation; spinal cord motor neuron differentiation; limb morphogenesis; organ morphogenesis; dorsal/ventral pattern formation; response to mechanical stimulus; ureteric bud branching; negative regulation of smoothened signaling pathway; neural plate pattern formation; neural tube closure; embryonic organ development; protein processing; brain development; regulation of smoothened signaling pathway Disease: Holoprosencephaly 7; Basal Cell Nevus Syndrome; Basal Cell Carcinoma, Susceptibility To, 1
NCBI Summary:	This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
UniProt Code:	Q13635
NCBI GenInfo Identifier:	134254446
NCBI Gene ID:	5727
NCBI Accession:	NP_000255.2
UniProt Related Accession:	Q13635
Molecular Weight:	~ 160kDa
NCBI Full Name:	protein patched homolog 1 isoform L
NCBI Synonym Full Names:	patched 1
NCBI Official Symbol:	PTCH1
NCBI Official Synonym Symbols:	PTC; BCNS; PTC1; PTCH; NBCCS
NCBI Protein Information:	protein patched homolog 1
UniProt Protein Name:	Protein patched homolog 1
Protein Family:	Protein
UniProt Gene Name:	PTCH1
UniProt Entry Name:	PTC1_HUMAN

	Western blot analysis of extracts of Rat skeletal muscle, using PTCH1 antibody (CAB14772) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 10s.
	Immunofluorescence analysis of mouse embryos cells using PTCH1 antibody (CAB14772) at dilution of 1:100. Blue: DAPI for nuclear staining.
	Immunofluorescence analysis of mouse embryos cells using PTCH1 antibody (CAB14772) at dilution of 1:100. Blue: DAPI for nuclear staining.