Q15465 (SHH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sonic hedgehog protein
Short name=SHH

Alternative name(s):
HHG-1

Cleaved into the following 2 chains:

1. Sonic hedgehog protein N-product
2. Sonic hedgehog protein C-product

Gene names

Name:

SHH

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	462 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the constitutive signaling activity of SMO. Also regulates another target, the gli oncogene. Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction By similarity.
Subunit structure	Interacts with HHATL/GUP1 which negatively regulates HHAT-mediated palmitoylation of the SHH N-terminus. N-product is active as a multimer By similarity.
Subcellular location	Sonic hedgehog protein C-product: Secreted › extracellular space By similarity. Note: The C-terminal peptide diffuses from the cell By similarity. Sonic hedgehog protein N-product: Cell membrane; Lipid-anchor By similarity. Note: The N-product either remains associated with lipid rafts at the cell surface, or forms freely diffusible active multimers with its hydrophobic lipid-modified N- and C-termini buried inside By similarity.
Tissue specificity	Expressed in fetal intestine, liver, lung, and kidney. Not expressed in adult tissues.
Post-translational modification	The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity. Cholesterylation is required for N-product targeting to lipid rafts and multimerization By similarity. N-palmitoylation of Cys-24 by HHAT is required for N-product multimerization and full activity By similarity. Ref.6
Involvement in disease	Microphthalmia, isolated, with coloboma, 5 (MCOPCB5) [MIM:611638]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Holoprosencephaly 3 (HPE3) [MIM:142945]: 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. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Solitary median maxillary central incisor (SMMCI) [MIM:147250]: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.18 Triphalangeal thumb-polysyndactyly syndrome (TPTPS) [MIM:174500]: Autosomal dominant syndrome characterized by a wide spectrum of pre-and post-axial abnormalities due to altered SHH expression pattern during limb development. TPTPS mutations have been mapped to the 7q36 locus in the LMBR1 gene which contains in its intron 5 a long-range cis-regulatory element of SHH expression. Note: The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH expression. Ref.8 Ref.10 Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. Note: The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH and result in abnormal, ectopic SHH expression with pathological consequences (Ref.8).
Sequence similarities	Belongs to the hedgehog family.
Mass spectrometry	Molecular mass is 19.560 Da from positions 24 - 197. Determined by ESI. Soluble N-product, purified from insect cells. Ref.6 Molecular mass is 20.167 Da from positions 24 - 197. Determined by ESI. Membrane-bound N-product, purified from insect cells. Ref.6

Ontologies

Keywords
Cellular component	Cell membrane Membrane Secreted
Disease	Disease mutation Holoprosencephaly Microphthalmia
Domain	Signal
Molecular function	Developmental protein Hydrolase Protease
PTM	Autocatalytic cleavage Glycoprotein Lipoprotein Palmitate
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	Bergmann glial cell differentiation Inferred from electronic annotation. Source: Compara CD4-positive or CD8-positive, alpha-beta T cell lineage commitment Inferred from direct assay PubMed 17227833. Source: BHF-UCL androgen metabolic process Inferred from sequence or structural similarity. Source: UniProtKB anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara apoptotic process Inferred from electronic annotation. Source: Compara artery development Inferred from electronic annotation. Source: Compara axon guidance Inferred from sequence or structural similarity. Source: UniProtKB blood coagulation Inferred from electronic annotation. Source: Compara branching involved in salivary gland morphogenesis Inferred from electronic annotation. Source: Compara branching involved in ureteric bud morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB bud outgrowth involved in lung branching Inferred from electronic annotation. Source: Compara camera-type eye development Inferred from electronic annotation. Source: Compara canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara cell fate specification Inferred from sequence or structural similarity. Source: UniProtKB cellular response to lithium ion Inferred from electronic annotation. Source: Compara determination of left/right asymmetry in lateral mesoderm Inferred from sequence or structural similarity. 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 ectoderm development Inferred from electronic annotation. Source: Compara embryonic digestive tract morphogenesis Inferred from electronic annotation. Source: Compara embryonic digit morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB embryonic foregut morphogenesis Inferred from electronic annotation. Source: Compara embryonic forelimb morphogenesis Inferred from electronic annotation. Source: Compara embryonic hindlimb morphogenesis Inferred from electronic annotation. Source: Compara embryonic pattern specification Traceable author statement PubMed 11001584. Source: BHF-UCL embryonic skeletal system development Inferred from electronic annotation. Source: Compara endocytosis Inferred from electronic annotation. Source: Compara epithelial cell proliferation involved in salivary gland morphogenesis Inferred from electronic annotation. Source: Compara epithelial-mesenchymal signaling involved in prostate gland development Inferred from direct assay PubMed 12221011. Source: MGI establishment of cell polarity Inferred from electronic annotation. Source: Compara forebrain development Inferred from sequence or structural similarity. Source: UniProtKB formation of anatomical boundary Inferred from electronic annotation. Source: Compara hair follicle morphogenesis Inferred from electronic annotation. Source: Compara heart looping Inferred from sequence or structural similarity. Source: BHF-UCL hindbrain development Inferred from sequence or structural similarity. Source: UniProtKB hindgut morphogenesis Inferred from electronic annotation. Source: Compara inner ear development Inferred from electronic annotation. Source: Compara intein-mediated protein splicing Inferred from electronic annotation. Source: InterPro intermediate filament organization Inferred from electronic annotation. Source: Compara left lung development Inferred from electronic annotation. Source: Compara limb bud formation Inferred from electronic annotation. Source: Compara lung development Inferred from sequence or structural similarity. Source: UniProtKB lung epithelium development Inferred from electronic annotation. Source: Compara lung lobe morphogenesis Inferred from electronic annotation. Source: Compara lung-associated mesenchyme development Inferred from electronic annotation. Source: Compara lymphoid progenitor cell differentiation Inferred from mutant phenotype PubMed 14764698. Source: BHF-UCL male genitalia development Inferred from sequence or structural similarity. Source: UniProtKB mesenchymal cell proliferation involved in lung development Inferred from electronic annotation. Source: Compara mesenchymal smoothened signaling pathway involved in prostate gland development Inferred from electronic annotation. Source: Compara metanephric mesenchymal cell proliferation involved in metanephros development Inferred from sequence or structural similarity. Source: UniProtKB midbrain development Inferred from sequence or structural similarity. Source: UniProtKB multicellular structure septum development Inferred from electronic annotation. Source: Compara myoblast differentiation Inferred from electronic annotation. Source: Compara myotube differentiation Inferred from electronic annotation. Source: Compara negative regulation of T cell proliferation Inferred from electronic annotation. Source: Compara negative regulation of alpha-beta T cell differentiation Inferred from electronic annotation. Source: Compara negative regulation of canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara negative regulation of cell migration Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of cholesterol efflux Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of kidney smooth muscle cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of proteasomal ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: Compara negative regulation of transcription elongation from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of ureter smooth muscle cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB negative thymic T cell selection Inferred from sequence or structural similarity. Source: UniProtKB neural crest cell migration Inferred from sequence or structural similarity. Source: UniProtKB neuroblast proliferation Inferred from sequence or structural similarity. Source: UniProtKB neuron fate commitment Inferred from sequence or structural similarity. Source: UniProtKB odontogenesis of dentin-containing tooth Inferred from electronic annotation. Source: Compara oligodendrocyte development Inferred from electronic annotation. Source: Compara organ formation Inferred from electronic annotation. Source: Compara osteoblast development Inferred from electronic annotation. Source: Compara palate development Inferred from electronic annotation. Source: Compara pancreas development Inferred from electronic annotation. Source: Compara patterning of blood vessels Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of T cell differentiation in thymus Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara positive regulation of alpha-beta T cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of cell division Inferred from direct assay PubMed 11331587. Source: BHF-UCL positive regulation of epithelial cell proliferation involved in prostate gland development Inferred from electronic annotation. Source: Compara positive regulation of hh target transcription factor activity Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of immature T cell proliferation in thymus Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of kidney smooth muscle cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of mesenchymal cell proliferation involved in ureter development Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of neuroblast proliferation Inferred from electronic annotation. Source: Compara positive regulation of oligodendrocyte differentiation Inferred from electronic annotation. Source: Compara positive regulation of protein import into nucleus Inferred from electronic annotation. Source: Compara positive regulation of sclerotome development Inferred from direct assay PubMed 10654605. Source: BHF-UCL positive regulation of skeletal muscle cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of skeletal muscle tissue development Inferred from electronic annotation. Source: Compara positive regulation of smoothened signaling pathway Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of striated muscle cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of ureter smooth muscle cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive thymic T cell selection Inferred from sequence or structural similarity. Source: UniProtKB primary prostatic bud elongation Inferred from electronic annotation. Source: Compara prostate epithelial cord elongation Inferred from electronic annotation. Source: Compara protein localization to nucleus Inferred from electronic annotation. Source: Compara proteolysis Inferred from electronic annotation. Source: UniProtKB-KW regulation of apoptotic process Inferred from electronic annotation. Source: Compara regulation of mesenchymal cell proliferation involved in prostate gland development Inferred from electronic annotation. Source: Compara regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Non-traceable author statement PubMed 17507406. Source: BHF-UCL regulation of odontogenesis Inferred from sequence or structural similarity. Source: BHF-UCL regulation of prostatic bud formation Inferred from electronic annotation. Source: Compara regulation of protein localization to nucleus Inferred from direct assay PubMed 11331587. Source: BHF-UCL regulation of proteolysis Inferred from sequence or structural similarity. Source: UniProtKB right lung development Inferred from electronic annotation. Source: Compara salivary gland cavitation Inferred from electronic annotation. Source: Compara skin development Inferred from electronic annotation. Source: Compara smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Inferred from electronic annotation. Source: Compara somite development Inferred from sequence or structural similarity. Source: BHF-UCL spinal cord dorsal/ventral patterning Inferred from electronic annotation. Source: Compara stem cell development Inferred from sequence or structural similarity. Source: UniProtKB telencephalon regionalization Inferred from electronic annotation. Source: Compara thymus development Inferred from sequence or structural similarity. Source: UniProtKB thyroid gland development Inferred from electronic annotation. Source: Compara trachea morphogenesis Inferred from electronic annotation. Source: Compara vasculogenesis Inferred from sequence or structural similarity. Source: UniProtKB ventral midline development Traceable author statement PubMed 11001584. Source: BHF-UCL
Cellular_component	cell surface Inferred from sequence or structural similarity. Source: UniProtKB extracellular matrix Inferred from electronic annotation. Source: Compara extracellular space Inferred from direct assay PubMed 19561609. Source: UniProtKB membrane raft Inferred from sequence or structural similarity. Source: UniProtKB nucleus Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from direct assay PubMed 19561609. Source: UniProtKB glycosaminoglycan binding Inferred from electronic annotation. Source: Compara laminin-1 binding Inferred from sequence or structural similarity. Source: UniProtKB morphogen activity Non-traceable author statement PubMed 8647801. Source: BHF-UCL patched binding Inferred from direct assay PubMed 8906787. Source: BHF-UCL peptidase activity Inferred from electronic annotation. Source: UniProtKB-KW signal transducer activity Inferred from direct assay PubMed 19561609. Source: UniProtKB zinc ion binding Inferred from direct assay PubMed 19561609. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 23

23

Ref.6

Chain

24 – 462

439

Sonic hedgehog protein

PRO_0000013208

Chain

24 – 197

174

Sonic hedgehog protein N-product

PRO_0000013209

Chain

198 – 462

265

Sonic hedgehog protein C-product

PRO_0000013210

Regions

Compositional bias

407 – 411

5

Poly-Gly

Sites

Site

197 – 198

2

Cleavage; by autolysis By similarity

Site

243

1

Involved in cholesterol transfer By similarity

Site

267

1

Involved in auto-cleavage By similarity

Site

270

1

Essential for auto-cleavage By similarity

Amino acid modifications

Lipidation

24

1

N-palmitoyl cysteine Ref.6

Lipidation

197

1

Cholesterol glycine ester By similarity

Glycosylation

278

1

N-linked (GlcNAc...) Ref.9

Natural variations

Natural variant

6

1

R → T in HPE3. Ref.20 Ref.25

VAR_023804

Natural variant

17

1

L → P in HPE3. Ref.25

VAR_062592

Natural variant

26

1

P → L in HPE3. Ref.25

VAR_062593

Natural variant

27

1

G → A in HPE3. Ref.19 Ref.25

VAR_039888

Natural variant

31

1

G → R in HPE3; the same mutation in the mouse sequence introduces a cleavage site for a furin-like protease resulting in abnormal protein processing; cleavage at this site removes 11 amino acids from the N-terminal domain and reduces affinity of Shh for Ptch1 and signaling potency in assays using chicken embryo neural plate explants and mouse C3H10T1/2 stem cells. Ref.11 Ref.12 Ref.23 Ref.25
Corresponds to variant rs28936675 [ dbSNP | Ensembl ].

VAR_003619

Natural variant

39

1

L → P in HPE3. Ref.25

VAR_062594

Natural variant

53

1

E → K in HPE3. Ref.25

VAR_062595

Natural variant

83

1

D → V in HPE3. Ref.25

VAR_062596

Natural variant

84

1

I → F in HPE3. Ref.25

VAR_062597

Natural variant

88

1

D → V in HPE3; familial; the same mutation in the mouse sequence moderately reduces Ptch1 binding in vitro and signaling potency in chicken embryo neural plate explant assays compared with wild-type sequence. Ref.14 Ref.23 Ref.25

VAR_009163

Natural variant

100

1

Q → H in HPE3; sporadic; in the mouse sequence does not affect signaling activity in any of Shh signaling assays and causes no apparent defects in cholesterol-mediated autoprocessing reactions. Ref.13 Ref.20 Ref.23 Ref.25

VAR_009164

Natural variant

102

1

C → R in HPE3. Ref.25

VAR_062598

Natural variant

102

1

C → Y in HPE3. Ref.25

VAR_062599

Natural variant

106 – 107

2

Missing in HPE3.

VAR_023805

Natural variant

109

1

L → F in HPE3. Ref.25

VAR_062600

Natural variant

110

1

A → D in HPE3. Ref.20 Ref.25

VAR_023806

Natural variant

110

1

A → T in HPE3. Ref.25

VAR_062601

Natural variant

111

1

I → F in SMMCI. Ref.15 Ref.25

VAR_017883

Natural variant

111

1

I → N in HPE3. Ref.21 Ref.25

VAR_039889

Natural variant

115

1

N → K in HPE3; familial; in the mouse sequence shows no change in activities at different temperatures. Ref.14 Ref.23 Ref.25

VAR_009165

Natural variant

117

1

W → G in HPE3; the same mutation in the mouse sequence causes a failure of Shh processing leading to retention of the immature glycosylated protein within the endoplasmic reticulum of transfected cells; causes a temperature-dependent conformational change that allows Shh to bind Ptch1 at 4 or 32 degrees Celsius but not at 37 degrees Celsius; the mutation drastically reduces signaling potency in chicken embryo neural plate explant assays. Ref.11 Ref.12 Ref.23 Ref.25

VAR_003620

Natural variant

117

1

W → R in HPE3; the same mutation in the mouse sequence causes a failure of Shh processing leading to retention of the immature glycosylated protein within the endoplasmic reticulum of transfected cells; causes a temperature-dependent conformational change that allows Shh to bind Ptch1 at 4 or 32 degrees Celsius but not at 37 degrees Celsius; drastically reduces signaling potency in chicken embryo neural plate explant assays. Ref.11 Ref.12 Ref.23 Ref.25

VAR_003621

Natural variant

124

1

V → M in HPE3. Ref.25

VAR_062602

Natural variant

136

1

E → K in HPE3. Ref.25

VAR_062603

Natural variant

140

1

H → P in HPE3. Ref.16 Ref.25

VAR_039890

Natural variant

140

1

H → Q in HPE3. Ref.22 Ref.24 Ref.25

VAR_039891

Natural variant

143

1

G → D in HPE3. Ref.25

VAR_062604

Natural variant

144

1

R → P in HPE3. Ref.25

VAR_062605

Natural variant

147

1

D → N in HPE3. Ref.25

VAR_062606

Natural variant

150

1

T → K in HPE3. Ref.25

VAR_062607

Natural variant

150

1

T → R in HPE3. Ref.20 Ref.25

VAR_023807

Natural variant

156

1

S → R in HPE3. Ref.25

VAR_062608

Natural variant

170

1

F → C in HPE3. Ref.25

VAR_062609

Natural variant

171

1

D → H in HPE3. Ref.25

VAR_062610

Natural variant

176 – 178

3

Missing in HPE3.

VAR_023808

Natural variant

183

1

C → F in HPE3. Ref.16 Ref.25

VAR_039892

Natural variant

183

1

C → R in HPE3. Ref.25

VAR_062611

Natural variant

183

1

C → Y in HPE3. Ref.25

VAR_062612

Natural variant

184

1

S → L in HPE3. Ref.25

VAR_062613

Natural variant

188

1

E → Q in HPE3; familial. Ref.13 Ref.20 Ref.23 Ref.25

VAR_009166

Natural variant

196 – 200

5

Missing in HPE3.

VAR_062614

Natural variant

196

1

G → E in HPE3. Ref.25

VAR_062615

Natural variant

197

1

G → V in HPE3. Ref.25

VAR_062616

Natural variant

198

1

C → F in HPE3. Ref.25

VAR_062617

Natural variant

198

1

C → S in HPE3. Ref.25

VAR_062618

Natural variant

218

1

L → P in HPE3. Ref.24 Ref.25

VAR_062619

Natural variant

222

1

D → N in HPE3; familial. Ref.13 Ref.20 Ref.25

VAR_009167

Natural variant

224

1

V → E in HPE3. Ref.12 Ref.25

VAR_009168

Natural variant

226

1

A → T in HPE3; familial. Ref.12 Ref.25

VAR_009169

Natural variant

231

1

G → V in HPE3. Ref.25

VAR_062620

Natural variant

232

1

R → G in HPE3. Ref.25

VAR_062621

Natural variant

234

1

L → P in HPE3. Ref.25

VAR_062622

Natural variant

236

1

S → N in HPE3. Ref.25

VAR_062623

Natural variant

236

1

S → R in HPE3; familial. Ref.14 Ref.25

VAR_009170

Natural variant

241

1

F → L in HPE3. Ref.25

VAR_062624

Natural variant

241

1

F → V in HPE3. Ref.25

VAR_062625

Natural variant

255

1

I → N in HPE3. Ref.25

VAR_062626

Natural variant

263 – 269

7

Missing in HPE3; sporadic.

VAR_009171

Natural variant

267

1

T → I in HPE3. Ref.19 Ref.25

VAR_039893

Natural variant

271

1

L → P in HPE3. Ref.20 Ref.25

VAR_023809

Natural variant

275

1

A → E in HPE3. Ref.25

VAR_062627

Natural variant

280

1

S → W in HPE3. Ref.25

VAR_062628

Natural variant

290

1

G → D in HPE3; sporadic. Ref.14 Ref.25

VAR_009172

Natural variant

296

1

G → A in HPE3; uncertain pathogenicity. Ref.25

VAR_062629

Natural variant

310

1

R → C in HPE3. Ref.25

VAR_062630

Natural variant

321

1

R → S in HPE3. Ref.25

VAR_062631

Natural variant

332

1

V → A in HPE3 and SMMCI. Ref.18 Ref.20 Ref.25

VAR_023810

Natural variant

346

1

A → V in HPE3. Ref.25

VAR_062632

Natural variant

347

1

P → L in HPE3. Ref.25

VAR_062633

Natural variant

347

1

P → Q in HPE3. Ref.20 Ref.25

VAR_023811

Natural variant

347

1

P → R in HPE3. Ref.25

VAR_062634

Natural variant

354

1

I → T in HPE3. Ref.20 Ref.25

VAR_023812

Natural variant

362

1

S → L in HPE3. Ref.25

VAR_062635

Natural variant

363

1

C → Y in HPE3. Ref.24 Ref.25

VAR_062636

Natural variant

364

1

Y → C in HPE3. Ref.25

VAR_062637

Natural variant

373

1

A → T in HPE3. Ref.19 Ref.25

VAR_039894

Natural variant

374

1

H → R in HPE3. Ref.25

VAR_062638

Natural variant

376

1

A → D in HPE3. Ref.25

VAR_062639

Natural variant

377

1

F → S in HPE3. Ref.25

VAR_062640

Natural variant

378 – 380

3

Missing in HPE3; familial.

VAR_009173

Natural variant

381

1

R → P in HPE3. Ref.20 Ref.25

VAR_023813

Natural variant

382

1

L → P in HPE3. Ref.25

VAR_062641

Natural variant

383

1

A → T in HPE3; sporadic. Ref.12 Ref.25

VAR_009174

Natural variant

391

1

A → T in HPE3; uncertain pathogenicity. Ref.25

VAR_062642

Natural variant

401 – 408

8

Missing in ocular coloboma.

VAR_017884

Natural variant

402 – 409

8

Missing in HPE3; uncertain pathogenicity.

VAR_062643

Natural variant

404 – 408

5

Missing in HPE3; familial.

VAR_009175

Natural variant

405 – 409

5

Missing in HPE3; uncertain pathogenicity.

VAR_062644

Natural variant

411

1

G → GG in HPE3; uncertain pathogenicity. Ref.25

VAR_062645

Natural variant

416

1

T → A in HPE3; uncertain pathogenicity. Ref.25

VAR_062646

Natural variant

424

1

P → A in HPE3; familial. Ref.14 Ref.25

VAR_009176

Natural variant

435

1

Y → N in HPE3. Ref.25

VAR_062647

Natural variant

436

1

S → L in HPE3; sporadic. Ref.14 Ref.25

VAR_009177

Natural variant

456

1

G → R in HPE3; uncertain pathogenicity. Ref.25

VAR_062648

Experimental info

Mutagenesis

24

1

C → S: Abolishes palmitoylation. Ref.6

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

462

Helix Strand Turn

Details...

Beta strand

30 – 32

3

Beta strand

47 – 51

5

Turn

56 – 59

4

Helix

72 – 75

4

Beta strand

84 – 86

3

Beta strand

91 – 93

3

Helix

94 – 96

3

Helix

100 – 116

17

Beta strand

122 – 128

7

Helix

139 – 142

4

Beta strand

145 – 150

6

Helix

155 – 157

3

Helix

158 – 167

10

Beta strand

171 – 177

7

Beta strand

180 – 184

5

Helix

188 – 190

3

Sequences

	Sequence		Length	Mass (Da)
	Q15465 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: DD687AFA582A4749	FASTA	462	49,607
	10 20 30 40 50 60 MLLLARCLLL VLVSSLLVCS GLACGPGRGF GKRRHPKKLT PLAYKQFIPN VAEKTLGASG 70 80 90 100 110 120 RYEGKISRNS ERFKELTPNY NPDIIFKDEE NTGADRLMTQ RCKDKLNALA ISVMNQWPGV 130 140 150 160 170 180 KLRVTEGWDE DGHHSEESLH YEGRAVDITT SDRDRSKYGM LARLAVEAGF DWVYYESKAH 190 200 210 220 230 240 IHCSVKAENS VAAKSGGCFP GSATVHLEQG GTKLVKDLSP GDRVLAADDQ GRLLYSDFLT 250 260 270 280 290 300 FLDRDDGAKK VFYVIETREP RERLLLTAAH LLFVAPHNDS ATGEPEASSG SGPPSGGALG 310 320 330 340 350 360 PRALFASRVR PGQRVYVVAE RDGDRRLLPA AVHSVTLSEE AAGAYAPLTA QGTILINRVL 370 380 390 400 410 420 ASCYAVIEEH SWAHRAFAPF RLAHALLAAL APARTDRGGD SGGGDRGGGG GRVALTAPGA 430 440 450 460 ADAPGAGATA GIHWYSQLLY QIGTWLLDSE ALHPLGMAVK SS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog." Marigo V., Roberts D.J., Lee S.M.K., Tsukurov O., Levi T., Gastier J.M., Epstein D.J., Gilbert D.J., Copeland N.G., Seidman C.E., Jenkins N.A., Seidman J.G., McMahon A.P., Tabin C. Genomics 28:44-51(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal lung.
[2]	"Expression of Sonic hedgehog and its receptor Patched/Smoothened in human cancer cell lines and embryonic organs." Tate G., Kishimoto K., Mitsuya T. J. Biochem. Mol. Biol. Biophys. 4:27-34(2000) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	NIEHS SNPs program Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Identification of a palmitic acid-modified form of human Sonic hedgehog." Pepinsky R.B., Zeng C., Wen D., Rayhorn P., Baker D.P., Williams K.P., Bixler S.A., Ambrose C.M., Garber E.A., Miatkowski K., Taylor F.R., Wang E.A., Galdes A. J. Biol. Chem. 273:14037-14045(1998) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 24-32, PALMITOYLATION AT CYS-24, CHOLESTERYLATION, MUTAGENESIS OF CYS-24, MASS SPECTROMETRY.
[7]	"Products, genetic linkage and limb patterning activity of a murine hedgehog gene." Chang D.T., Lopez A., von Kessler D.P., Chiang C., Simandl B.K., Zhao R., Seldin M.F., Fallon J.F., Beachy P.A. Development 120:3339-3353(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 119-167.
[8]	"A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly." Lettice L.A., Heaney S.J.H., Purdie L.A., Li L., de Beer P., Oostra B.A., Goode D., Elgar G., Hill R.E., de Graaff E. Hum. Mol. Genet. 12:1725-1735(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN TPTPS.
[9]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-278, MASS SPECTROMETRY. Tissue: Plasma.
[10]	"Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer." Sun M., Ma F., Zeng X., Liu Q., Zhao X.-L., Wu F.-X., Wu G.-P., Zhang Z.-F., Gu B., Zhao Y.-F., Tian S.-H., Lin B., Kong X.-Y., Zhang X.-L., Yang W., Lo W.H.-Y., Zhang X. J. Med. Genet. 45:589-595(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN TPTPS.
[11]	"Mutations in the human Sonic hedgehog gene cause holoprosencephaly." Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S.W., Tsui L.-C., Muenke M. Nat. Genet. 14:357-360(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 ARG-31; GLY-117 AND ARG-117.
[12]	"Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly." Roessler E., Belloni E., Gaudenz K., Vargas F., Scherer S.W., Tsui L.-C., Muenke M. Hum. Mol. Genet. 6:1847-1853(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 ARG-31; GLY-117; ARG-117; GLU-224; THR-226 AND THR-383.
[13]	"Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly." Odent S., Atti-Bitach T., Blayau M., Mathieu M., Aug J., Delezo de A.L., Gall J.Y., Le Marec B., Munnich A., David V., Vekemans M. Hum. Mol. Genet. 8:1683-1689(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 HIS-100; GLN-188 AND ASN-222.
[14]	"The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly." Nanni L., Ming J.E., Bocian M., Steinhaus K., Bianchi D.W., Die-Smulders C., Giannotti A., Imaizumi K., Jones K.L., Campo M.D., Martin R.A., Meinecke P., Pierpont M.E.M., Robin N.H., Young I.D., Roessler E., Muenke M. Hum. Mol. Genet. 8:2479-2488(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 VAL-88; LYS-115; ARG-236; 263-ARG--ALA-269 DEL; ASP-290; ALA-424 AND LEU-436.
[15]	"SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature." Nanni L., Ming J.E., Du Y., Hall R.K., Aldred M., Bankier A., Muenke M. Am. J. Med. Genet. 102:1-10(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMMCI PHE-111.
[16]	"Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly." Orioli I.M., Castilla E.E., Ming J.E., Nazer J., Burle de Aguiar M.J., Llerena J.C., Muenke M. Hum. Genet. 109:1-6(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 PRO-140 AND PHE-183.
[17]	"Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia." Schimmenti L.A., de la Cruz J., Lewis R.A., Karkera J.D., Manligas G.S., Roessler E., Muenke M. Am. J. Med. Genet. A 116:215-221(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MCOPCB5 401-SER--GLY-408 DEL.
[18]	"Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog." Garavelli L., Zanacca C., Caselli G., Banchini G., Dubourg C., David V., Odent S., Gurrieri F., Neri G. Am. J. Med. Genet. A 127:93-95(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMMCI ALA-332.
[19]	"Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation." Hehr U., Gross C., Diebold U., Wahl D., Beudt U., Heidemann P., Hehr A., Mueller D. Eur. J. Pediatr. 163:347-352(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 ALA-27; ILE-267 AND THR-373.
[20]	"Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations." Dubourg C., Lazaro L., Pasquier L., Bendavid C., Blayau M., Le Duff F., Durou M.-R., Odent S., David V. Hum. Mutat. 24:43-51(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 THR-6; HIS-100; 106-LEU-ASN-107 DEL; ASP-110; ARG-150; 176-GLU--LYS-178 DEL; GLN-188; ASN-222; PRO-271; ALA-332; GLN-347; THR-354 AND PRO-381.
[21]	"SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor." El-Jaick K.B., Brunoni D., Castilla E.E., Moreira M.A., Orioli I.M. Am. J. Med. Genet. A 136:345-345(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HPE3 ASN-111.
[22]	"Single median maxillary central incisor, hypophyseal tumor, and SHH mutation." Ribeiro L.A., Richieri-Costa A. Am. J. Med. Genet. A 136:346-347(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HPE3 GLN-140.
[23]	"Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly." Maity T., Fuse N., Beachy P.A. Proc. Natl. Acad. Sci. U.S.A. 102:17026-17031(2005) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS HPE3 ARG-31; VAL-88; HIS-100; LYS-115; ARG-117; GLY-117 AND GLN-188.
[24]	"Holoprosencephaly-like phenotype: clinical and genetic perspectives." Richieri-Costa A., Ribeiro L.A. Am. J. Med. Genet. A 140:2587-2593(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 GLN-140; PRO-218 AND TYR-363.
[25]	"The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis." Roessler E., El-Jaick K.B., Dubourg C., Velez J.I., Solomon B.D., Pineda-Alvarez D.E., Lacbawan F., Zhou N., Ouspenskaia M., Paulussen A., Smeets H.J., Hehr U., Bendavid C., Bale S., Odent S., David V., Muenke M. Hum. Mutat. 30:E921-E935(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HPE3 THR-6; PRO-17; LEU-26; ALA-27; ARG-31; PRO-39; LYS-53; VAL-83; PHE-84; VAL-88; HIS-100; ARG-102; TYR-102; 106-LEU-ASN-107 DEL; PHE-109; THR-110; ASP-110; PHE-111; ASN-111; LYS-115; GLY-117; ARG-117; MET-124; LYS-136; PRO-140; GLN-140; ASP-143; PRO-144; ASN-147; ARG-150; LYS-150; ARG-156; CYS-170; HIS-171; 176-GLU--LYS-178 DEL; ARG-183; PHE-183; TYR-183; LEU-184; GLN-188; GLU-196; 196-GLY--PRO-200 DEL; VAL-197; SER-198; PHE-198; PRO-218; ASN-222; GLU-224; THR-226; VAL-231; GLY-232; PRO-234; ARG-236; ASN-236; VAL-241; LEU-241; ASN-255; 263-ARG--ALA-269 DEL; ILE-267; PRO-271; GLU-275; TRP-280; ASP-290; ALA-296; CYS-310; SER-321; ALA-332; VAL-346; ARG-347; GLN-347; LEU-347; THR-354; LEU-362; TYR-363; CYS-364; THR-373; ARG-374; ASP-376; SER-377; 378-ALA--PHE-380 DEL; PRO-381; PRO-382; THR-383; THR-391; 402-GLY--GLY-409 DEL; 405-ASP--GLY-409 DEL; GLY-411 INS; ALA-416; ALA-424; ASN-435; LEU-436 AND ARG-456.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

L38518 mRNA. Translation: AAA62179.1.
AY422195 Genomic DNA. Translation: AAQ87879.1.
AC002484 Genomic DNA. Translation: AAB67604.1.
AC078834 Genomic DNA. Translation: AAS01990.1.
CH236954 Genomic DNA. Translation: EAL23913.1.

IPI

IPI00017480.

RefSeq

NP_000184.1. NM_000193.2.

UniGene

Hs.164537.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3HO5	X-ray	3.01	H	29-197	[»]
3M1N	X-ray	1.85	A/B	25-197	[»]
3MXW	X-ray	1.83	A	29-197	[»]

ProteinModelPortal

Q15465.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000297261.

Protein family/group databases

MEROPS

C46.002.

PTM databases

PhosphoSite

Q15465.

Polymorphism databases

DMDM

6094283.

Proteomic databases

PaxDb

Q15465.

PRIDE

Q15465.

Protocols and materials databases

DNASU

6469.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000297261; ENSP00000297261; ENSG00000164690.

GeneID

6469.

KEGG

hsa:6469.

UCSC

uc003wmj.1. human.

Organism-specific databases

CTD

6469.

GeneCards

GC07M155592.

HGNC

HGNC:10848. SHH.

HPA

CAB018966.

MIM

142945. phenotype.
147250. phenotype.
174500. phenotype.
600725. gene.
611638. phenotype.

neXtProt

NX_Q15465.

Orphanet

93925. Alobar holoprosencephaly.
98938. Colobomatous microphthalmia.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
194. Ocular coloboma.
799. Schizencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
2286. Solitary median maxillary central incisor syndrome.

PharmGKB

PA35752.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG250647.

HOGENOM

HOG000233428.

HOVERGEN

HBG005480.

InParanoid

Q15465.

KO

K11988.

OMA

SWAHRAF.

OrthoDB

EOG46WZ8G.

PhylomeDB

Q15465.

Enzyme and pathway databases

Pathway_Interaction_DB

hnf3apathway. FOXA1 transcription factor network.
glypican_3pathway. Glypican 3 network.
hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins.
hedgehog_2pathway. Signaling events mediated by the Hedgehog family.

Gene expression databases

ArrayExpress

Q15465.

Bgee

Q15465.

CleanEx

HS_SHH.

Genevestigator

Q15465.

GermOnline

ENSG00000164690. Homo sapiens.

Family and domain databases

Gene3D

3.30.1380.10. 1 hit.

InterPro

IPR001657. Hedgehog.
IPR009045. Hedgehog_sig/DD-Pept_Zn-bd_dom.
IPR000320. Hedgehog_signaling_dom.
IPR001767. Hint_dom.
IPR003586. Hint_dom_C.
IPR003587. Hint_dom_N.
IPR006141. Intein_splice_site.
[Graphical view]

Pfam

PF01085. HH_signal. 1 hit.
PF01079. Hint. 1 hit.
[Graphical view]

PIRSF

PIRSF009400. Peptidase_C46. 1 hit.

PRINTS

PR00632. SONICHHOG.

SMART

SM00305. HintC. 1 hit.
SM00306. HintN. 1 hit.
[Graphical view]

SUPFAM

SSF55166. Hedgehog_sig_N. 1 hit.

PROSITE

PS50817. INTEIN_N_TER. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q15465.

ChEMBL

CHEMBL5602.

EvolutionaryTrace

Q15465.

GenomeRNAi

6469.

NextBio

25129.

SOURCE

Search...

Entry information

Entry name

SHH_HUMAN

Accession

Primary (citable) accession number: Q15465
Secondary accession number(s): A4D247, Q75MC9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 157 of the entry and version 1 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.