Protein name:
Sonic hedgehog protein (SHH) ;
Alternative:
HHG-1 ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Interacts with HHATL/GUP1 which negatively regulates HHAT-mediated palmitoylation of the SHH N-terminus. N-product is active as a multimer.
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.
Subcellular Location:
Sonic hedgehog protein N-product
Cell membrane
Lipid-anchor
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.
Protein Attributes:
50:
MLLLARCLLL | VLVSSLLVCS | GLACGPGRGF | GKRRHPKKLT | PLAYKQFIPN |
100:
VAEKTLGASG | RYEGKISRNS | ERFKELTPNY | NPDIIFKDEE | NTGADRLMTQ |
150:
RCKDKLNALA | ISVMNQWPGV | KLRVTEGWDE | DGHHSEESLH | YEGRAVDITT |
200:
SDRDRSKYGM | LARLAVEAGF | DWVYYESKAH | IHCSVKAENS | VAAKSGGCFP |
250:
GSATVHLEQG | GTKLVKDLSP | GDRVLAADDQ | GRLLYSDFLT | FLDRDDGAKK |
300:
VFYVIETREP | RERLLLTAAH | LLFVAPHNDS | ATGEPEASSG | SGPPSGGALG |
350:
PRALFASRVR | PGQRVYVVAE | RDGDRRLLPA | AVHSVTLSEE | AAGAYAPLTA |
400:
QGTILINRVL | ASCYAVIEEH | SWAHRAFAPF | RLAHALLAAL | APARTDRGGD |
450:
SGGGDRGGGG | GRVALTAPGA | ADAPGAGATA | GIHWYSQLLY | QIGTWLLDSE |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Mouse
Chicken
Polyclonal Antibody for Human SHH
Polyclonal Antibody for Human SHH
Polyclonal Antibody for Human SHH
Polyclonal Antibody for Human SHH
Monoclonal Antibody for Human SHH
Monoclonal Antibody for Human SHH
Monoclonal Antibody for Human SHH
Monoclonal Antibody for Human SHH
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INVOLVEMENT IN TPTPS
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-278
tissue :
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"A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb."
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INVOLVEMENT IN THYP
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 25-197 IN COMPLEX WITH ZINC IONS;FUNCTION;DOMAIN
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HPE3 ARG-31; GLY-117 AND ARG-117
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HPE3 ARG-31; GLY-117; ARG-117; GLU-224; THR-226 AND THR-383
18.
"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.
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Mathieu M.
,
Aug J.
,
Delezo de A.L.
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,
Vekemans M.
Hum. Mol. Genet.8:1683-1689(1999)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HPE3 HIS-100; GLN-188 AND ASN-222
19.
"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 ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HPE3 VAL-88; LYS-115; ARG-236; 263-ARG--ALA-269 DEL; ASP-290; ALA-424 AND LEU-436
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT SMMCI PHE-111
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HPE3 PRO-140 AND PHE-183
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MCOPCB5 401-SER--GLY-408 DEL
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT SMMCI ALA-332
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HPE3 ALA-27; ILE-267 AND THR-373
25.
"Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations."
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Le Duff F.
,
Durou M.-R.
,
Odent S.
,
David V.
Hum. Mutat.24:43-51(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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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
26.
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Cited for : VARIANT HPE3 ASN-111
27.
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Cited for : VARIANT HPE3 GLN-140
28.
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Cited for : CHARACTERIZATION OF VARIANTS HPE3 ARG-31; VAL-88; HIS-100; LYS-115; ARG-117; GLY-117 AND GLN-188
29.
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Cited for : VARIANTS HPE3 GLN-140; PRO-218 AND TYR-363
30.
"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 ]
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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