Protein Description

Gene Symbol PTCH1
Entrez ID 5727
Uniprot ID Q13635
Description patched 1
Chromosomal Location chr9: 95,442,980-95,517,057
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IMP

BP

GO:0001658

branching involved in ureteric bud morphogenesis

The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.

IEA

BP

GO:0001701

in utero embryonic development

The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.

IEA

BP

GO:0001709

cell fate determination

A process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment.

IEA

BP

GO:0001843

neural tube closure

The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.

IEA

BP

GO:0003007

heart morphogenesis

The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.

IEA

BP

GO:0007224

smoothened signaling pathway

A series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

IEP|ISS

BP

GO:0007346

regulation of mitotic cell cycle

Any process that modulates the rate or extent of progress through the mitotic cell cycle.

IEA

BP

GO:0007420

brain development

The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).

ISS

BP

GO:0008589

regulation of smoothened signaling pathway

Any process that modulates the frequency, rate or extent of smoothened signaling.

ISS

BP

GO:0009612

response to mechanical stimulus

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.

IEA

BP

GO:0009887

animal organ morphogenesis

Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.

ISS

BP

GO:0009953

dorsal/ventral pattern formation

The regionalization process in which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism.

ISS

BP

GO:0009957

epidermal cell fate specification

The process in which a cell becomes capable of differentiating autonomously into an epidermal cell in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed.

IEA

BP

GO:0010157

response to chlorate

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chlorate stimulus.

IEA

BP

GO:0010875

positive regulation of cholesterol efflux

Any process that increases the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.

IDA

BP

GO:0016485

protein processing

Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.

ISS

BP

GO:0021522

spinal cord motor neuron differentiation

The process in which neuroepithelial cells in the ventral neural tube acquire specialized structural and/or functional features of motor neurons. Motor neurons innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses from the brain to the periphery. Differentiation includes the processes involved in commitment of a cell to a specific fate.

IEA

BP

GO:0021532

neural tube patterning

The regionalization process that regulates the coordinated growth that establishes the non-random spatial arrangement of the neural tube.

IMP

BP

GO:0021997

neural plate axis specification

The pattern specification process in which the axes of the nervous system are established.

ISS

BP

GO:0030326

embryonic limb morphogenesis

The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping.

ISS

BP

GO:0032355

response to estradiol

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.

IEA

BP

GO:0032526

response to retinoic acid

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.

IEA

BP

GO:0032880

regulation of protein localization

Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.

IEA

BP

GO:0035108

limb morphogenesis

The process in which the anatomical structures of a limb are generated and organized. A limb is a paired appendage of a tetrapod used for locomotion or grasping.

IMP

BP

GO:0035137

hindlimb morphogenesis

The process in which the anatomical structures of the hindlimb are generated and organized.

IEA

BP

GO:0040015

negative regulation of multicellular organism growth

Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organism to reach its usual body size.

ISS

BP

GO:0042493

response to drug

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease.

IEA

BP

GO:0042593

glucose homeostasis

Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.

IEA

BP

GO:0043433

negative regulation of sequence-specific DNA binding transcription factor activity

Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.

IMP

BP

GO:0043616

keratinocyte proliferation

The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin.

IEA

BP

GO:0045606

positive regulation of epidermal cell differentiation

Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation.

IEA

BP

GO:0045668

negative regulation of osteoblast differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.

IMP

BP

GO:0045879

negative regulation of smoothened signaling pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling.

ISS|TAS

BP

GO:0045893

positive regulation of transcription, DNA-templated

Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.

IEA

BP

GO:0048568

embryonic organ development

Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.

IEA

BP

GO:0050680

negative regulation of epithelial cell proliferation

Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.

IEA

BP

GO:0051782

negative regulation of cell division

Any process that stops, prevents, or reduces the frequency, rate or extent of cell division.

IEA

BP

GO:0060037

pharyngeal system development

The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear.

IMP

BP

GO:0060603

mammary gland duct morphogenesis

The process in which anatomical structures of the mammary ducts are generated and organized. Mammary ducts are epithelial tubes that transport milk.

IEA

BP

GO:0060644

mammary gland epithelial cell differentiation

The process in which a relatively unspecialized epithelial cell becomes a more specialized epithelial cell of the mammary gland.

IEA

BP

GO:0060831

smoothened signaling pathway involved in dorsal/ventral neural tube patterning

The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened contributing to the dorsal/ventral pattern of the neural tube.

IEA

BP

GO:0061005

cell differentiation involved in kidney development

The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells of the kidney as it progresses from its formation to the mature state.

IEA

BP

GO:0061053

somite development

The progression of a somite from its initial formation to the mature structure. Somites are mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo.

IMP

BP

GO:0071397

cellular response to cholesterol

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus.

IMP|ISS

BP

GO:0072001

renal system development

The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels.

IEP

BP

GO:0072203

cell proliferation involved in metanephros development

The multiplication or reproduction of cells, resulting in the expansion of the population in the metanephros.

IEA

BP

GO:0072661

protein targeting to plasma membrane

The process of directing proteins towards the plasma membrane; usually uses signals contained within the protein.

IDA

CC

GO:0005794

Golgi apparatus

A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions.

IDA

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IDA

CC

GO:0005901

caveola

A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.

IDA

CC

GO:0014069

postsynaptic density

The postsynaptic density is a region that lies adjacent to the cytoplasmic face of the postsynaptic membrane at an excitatory synapse. It forms an electron-dense disc that consists of a range of proteins with different functions, some of which contact the cytoplasmic domains of ion channels in the postsynaptic membrane. The proteins making up the disc include structural proteins linked to the actin cytoskeleton and signalling machinery, such as protein kinases and phosphatases.

IEA

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

IEA

CC

GO:0030496

midbody

A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.

IEA

CC

GO:0030666

endocytic vesicle membrane

The lipid bilayer surrounding an endocytic vesicle.

TAS

CC

GO:0043231

intracellular membrane-bounded organelle

Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

IDA

CC

GO:0044294

dendritic growth cone

The migrating motile tip of a growing nerve cell dendrite.

IEA

CC

GO:0044295

axonal growth cone

The migrating motile tip of a growing nerve cell axon.

IEA

CC

GO:0048471

perinuclear region of cytoplasm

Cytoplasm situated near, or occurring around, the nucleus.

IDA

CC

GO:0060170

ciliary membrane

The portion of the plasma membrane surrounding a cilium.

TAS

CC

GO:0072372

primary cilium

A cilium found on many different cell types that is typically present in a single copy per cell. A primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors.

IEA

MF

GO:0005113

patched binding

Interacting selectively and non-covalently with the patched (ptc) protein, a receptor for hedgehog proteins.

IEA

MF

GO:0005119

smoothened binding

Interacting selectively and non-covalently with the smoothened (smo) protein, which interacts with patched to transmit hedgehog signals.

IPI

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0008158

hedgehog receptor activity

Combining with a member of the hedgehog protein family and transmitting the signal across the membrane to initiate a change in cell activity.

IEA

MF

GO:0008201

heparin binding

Interacting selectively and non-covalently with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.

IEA

MF

GO:0015485

cholesterol binding

Interacting selectively and non-covalently with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.

IDA

MF

GO:0030332

cyclin binding

Interacting selectively and non-covalently with cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis.

IPI

MF

GO:0032403

protein complex binding

Interacting selectively and non-covalently with any protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IEA

MF

GO:0097108

hedgehog family protein binding

Interacting selectively and non-covalently with a member of the hedgehog protein family, signaling proteins involved in development.

IPI

Domain ID Description

IPR000731

Sterol-sensing domain

IPR003392

Protein patched/dispatched

IPR004766

Transmembrane receptor, patched

Pathway ID Pathway Term Pathway Source

hsa04024

cAMP signaling pathway

KEGG

hsa04340

Hedgehog signaling pathway

KEGG

hsa04360

Axon guidance

KEGG

hsa05200

Pathways in cancer

KEGG

hsa05205

Proteoglycans in cancer

KEGG

hsa05217

Basal cell carcinoma

KEGG

WP3930

EDA Signalling in Hair Follicle Development

WikiPathways

WP474

Endochondral Ossification

WikiPathways

WP47

Hedgehog Signaling Pathway

WikiPathways

h_shhPathway

Sonic Hedgehog (Shh) Pathway

BioCarta

h_ptc1Pathway

Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle

BioCarta

UMLS CUI UMLS Term

C0004779

Basal Cell Nevus Syndrome

C0006118

Brain Neoplasms

C0007117

Basal Cell Carcinoma

C0008924

Cleft Lip

C0008925

Cleft Palate

C0019693

HIV Infections

C0025149

Medulloblastoma

C0030297

Pancreatic Neoplasm

C0035412

Rhabdomyosarcoma

C0037286

Skin Neoplasms

C0079541

Holoprosencephaly

C0206663

Neuroectodermal Tumor, Primitive

C0376634

Craniofacial Abnormalities

C0431362

Lobar Holoprosencephaly

C0431363

Alobar Holoprosencephaly

C0751617

Semilobar Holoprosencephaly

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

bone marrow

hematopoietic cells

breast

glandular cells

breast

myoepithelial cells

caudate

neuronal cells

cerebellum

cells in granular layer

cerebral cortex

endothelial cells

cerebral cortex

neuronal cells

cerebral cortex

neuropil

colon

endothelial cells

colon

glandular cells

colon

peripheral nerve/ganglion

duodenum

glandular cells

endometrium

glandular cells

fallopian tube

glandular cells

gallbladder

glandular cells

heart muscle

myocytes

kidney

cells in glomeruli

kidney

cells in tubules

lymph node

germinal center cells

nasopharynx

respiratory epithelial cells

parathyroid gland

glandular cells

placenta

decidual cells

placenta

trophoblastic cells

rectum

glandular cells

salivary gland

glandular cells

seminal vesicle

glandular cells

skeletal muscle

myocytes

small intestine

glandular cells

spleen

cells in red pulp

stomach

glandular cells

tonsil

germinal center cells

tonsil

non-germinal center cells

tonsil

squamous epithelial cells

urinary bladder

urothelial cells

No databases found.

Pubmed ID Author Year Title

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

Gene Symbol Entrez ID Uniprot ID Score

IHH

3549

Q14623

0.52

CCNB1

891

P14635

0.59

SHH

6469

Q15465

0.59

ABCA2

20

Q9BZC7

0.63

ASPH

444

Q12797

0.63

CACNA2D1

781

P54289

0.63

CASP9

842

P55211

0.63

ATF6B

1388

Q99941

0.63

COCH

1690

O43405

0.63

EGFR

1956

P00533

0.63

ENDOG

2021

Q14249

0.63

EXT1

2131

Q16394

0.63

FHL2

2274

Q14192

0.63

GCNT1

2650

Q02742

0.63

B4GALT1

2683

P15291

0.63

HLA-A

3105

P30443

0.63

HLA-C

3107

P30499

0.63

HSPA5

3309

P11021

0.63

ITGA6

3655

P23229

0.63

ITGA4

3676

P13612

0.63

ITGA7

3679

Q13683

0.63

MAN2A1

4124

Q16706

0.63

MGAT1

4245

P26572

0.63

MGAT5

4249

Q09328

0.63

NEDD4

4734

P46934

0.63

PAM

5066

P19021

0.63

ENPP1

5167

P22413

0.63

PLXNA1

5361

Q9UIW2

0.63

ST3GAL4

6484

Q11206

0.63

ADAM17

6868

P78536

0.63

TGFBR3

7049

Q03167

0.63

UGT8

7368

Q16880

0.63

ST8SIA4

7903

Q92187

0.63

TPST2

8459

O60704

0.63

NDST2

8509

P52849

0.63

ITGA8

8516

P53708

0.63

B4GALT3

8703

O60512

0.63

CCPG1

9236

Q9ULG6

0.63

CACNA2D2

9254

Q9NY47

0.63

SLIT2

9353

O94813

0.63

ST3GAL6

10402

Q9Y274

0.63

SEMA4F

10505

O95754

0.63

WWP1

11059

Q9H0M0

0.63

WWP2

11060

O00308

0.63

DDX19B

11269

Q9UMR2

0.63

B4GALT7

11285

Q9UBV7

0.63

CHSY1

22856

Q86X52

0.63

NEDD4L

23327

Q96PU5

0.63

TMEM131

23505

Q92545

0.63

PLXNB2

23654

O15031

0.63

TMEM2

23670

Q9UHN6

0.63

MOXD1

26002

Q6UVY6

0.63

TOR1AIP1

26092

Q5JTV8

0.63

CNNM4

26504

Q6P4Q7

0.63

CNNM1

26507

Q9NRU3

0.63

POMT2

29954

Q9UKY4

0.63

GALNT7

51809

Q86SF2

0.63

IMPAD1

54928

Q9NX62

0.63

TMEM160

54958

Q9NX00

0.63

TMEM132A

54972

Q24JP5

0.63

CHST12

55501

Q9NRB3

0.63

TTC17

55761

Q96AE7

0.63

RNF130

55819

Q86XS8

0.63

SULF2

55959

Q8IWU5

0.63

SPPL2B

56928

Q8TCT7

0.63

SMURF1

57154

Q9HCE7

0.63

KIAA1161

57462

Q6NSJ0

0.63

SEMA6A

57556

Q9H2E6

0.63

PDF

64146

Q9HBH1

0.63

SMURF2

64750

Q9HAU4

0.63

LRFN3

79414

Q9BTN0

0.63

CHPF

79586

Q8IZ52

0.63

TXNDC15

79770

Q96J42

0.63

CNTNAP3

79937

Q9BZ76

0.63

COL18A1

80781

P39060

0.63

NETO2

81831

Q8NC67

0.63

ITCH

83737

Q96J02

0.63

POMGNT2

84892

Q8NAT1

0.63

HS6ST2

90161

Q96MM7

0.63

PXYLP1

92370

Q8TE99

0.63

CHST14

113189

Q8NCH0

0.63

MUCL1

118430

Q96DR8

0.63

B3GLCT

145173

Q6Y288

0.63

ARSK

153642

Q6UWY0

0.63

UGT3A2

167127

Q3SY77

0.63

FUT11

170384

Q495W5

0.63

DHFRL1

200895

Q86XF0

0.63

ST6GALNAC3

256435

Q8NDV1

0.63

YAP1

10413

P46937

0.75

DHH

50846

O43323

0.52

HIPK2

28996

Q9H2X6

0.55

CAV1

857

Q03135

0.63

SMO

6608

Q99835

0.87