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[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tate G.,
Kishimoto K.,
Mitsuya T.;
"Expression of Sonic hedgehog and its receptor Patched/Smoothened in human cancer cell lines and embryonic organs.";
J. Biochem. Mol. Biol. Biophys. 4:27-34(2000).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 85-178.
TISSUE=Kidney;
Drummond I.A.;
"Human desert hedgehog.";
Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
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[4]
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INVOLVEMENT IN PGD.
PubMed=11017805 [NCBI, ExPASy, EBI, Israel, Japan]
Umehara F.,
Tate G.,
Itoh K.,
Yamaguchi N.,
Douchi T.,
Mitsuya T.,
Osame M.;
"A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.";
Am. J. Hum. Genet. 67:1302-1305(2000).
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[5]
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VARIANT GDXYM PRO-162.
DOI=10.1210/jc.2004-0863; PubMed=15356051 [NCBI, ExPASy, EBI, Israel, Japan]
Canto P.,
Soederlund D.,
Reyes E.,
Mendez J.P.;
"Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.";
J. Clin. Endocrinol. Metab. 89:4480-4483(2004).
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[6]
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ERRATUM.
Canto P.,
Soederlund D.,
Reyes E.,
Mendez J.P.;
J. Clin. Endocrinol. Metab. 89:5453-5453(2004).
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- FUNCTION: Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development.
- SUBCELLULAR LOCATION: Desert hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side (By similarity). Note=The N-terminal peptide remains associated with the cell surface (By similarity).
- SUBCELLULAR LOCATION: Desert hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The C-terminal peptide diffuses from the cell (By similarity).
- PTM: 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). This covalent modification appears to play an essential role in restricting the spatial distribution of the protein activity to the cell surface. The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity).
- DISEASE: Defects in DHH may be the cause of partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) [MIM:607080]. PGD is characterized by the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity.
- DISEASE: Defects in DHH may be the cause of complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]; also called male-limited gonadal dysgenesis 46,XY. GDXYM is a type of hypogonadism in which no functional gonads are present to induce puberty in an externally female person whose karyotype is then found to be XY. The gonads are found to be non-functional streaks.
- SIMILARITY: Belongs to the hedgehog family.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 396 AA [This is the length of the unprocessed precursor] |
Molecular weight: 43577 Da [This is the MW of the unprocessed precursor] |
CRC64: FCE4FB21972C3AD5 [This is a checksum on the sequence] |
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10 20 30 40 50 60
MALLTNLLPL CCLALLALPA QSCGPGRGPV GRRRYARKQL VPLLYKQFVP GVPERTLGAS
70 80 90 100 110 120
GPAEGRVARG SERFRDLVPN YNPDIIFKDE ENSGADRLMT ERCKERVNAL AIAVMNMWPG
130 140 150 160 170 180
VRLRVTEGWD EDGHHAQDSL HYEGRALDIT TSDRDRNKYG LLARLAVEAG FDWVYYESRN
190 200 210 220 230 240
HVHVSVKADN SLAVRAGGCF PGNATVRLWS GERKGLRELH RGDWVLAADA SGRVVPTPVL
250 260 270 280 290 300
LFLDRDLQRR ASFVAVETEW PPRKLLLTPW HLVFAARGPA PAPGDFAPVF ARRLRAGDSV
310 320 330 340 350 360
LAPGGDALRP ARVARVAREE AVGVFAPLTA HGTLLVNDVL ASCYAVLESH QWAHRAFAPL
370 380 390
RLLHALGALL PGGAVQPTGM HWYSRLLYRL AEELLG
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O43323 in FASTA format |
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