3n1q
From Proteopedia
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===Crystal Structure of DhhN bound to CDOFn3=== | ===Crystal Structure of DhhN bound to CDOFn3=== | ||
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{{ABSTRACT_PUBMED_20519495}} | {{ABSTRACT_PUBMED_20519495}} | ||
==Disease== | ==Disease== | ||
| - | + | [[http://www.uniprot.org/uniprot/DHH_HUMAN DHH_HUMAN]] Defects in DHH may be the cause of partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) [MIM:[http://omim.org/entry/607080 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.<ref>PMID:11017805</ref> Defects in DHH may be the cause of complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:[http://omim.org/entry/233420 233420]]; also known as 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.<ref>PMID:15356051</ref> [[http://www.uniprot.org/uniprot/CDON_HUMAN CDON_HUMAN]] Defects in CDON are the cause of holoprosencephaly type 11 (HPE11) [MIM:[http://omim.org/entry/614226 614226]]. HPE11 is 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. | |
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/DHH_HUMAN DHH_HUMAN]] 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. [[http://www.uniprot.org/uniprot/CDON_HUMAN CDON_HUMAN]] Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity). | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[3n1q]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3N1Q OCA]. | |
==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID: | + | <ref group="xtra">PMID:020519495</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Kavran, J M.]] | [[Category: Kavran, J M.]] | ||
[[Category: Leahy, D J.]] | [[Category: Leahy, D J.]] | ||
[[Category: Binding site]] | [[Category: Binding site]] | ||
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[[Category: Cell adhesion molecule]] | [[Category: Cell adhesion molecule]] | ||
[[Category: Cell cycle protein]] | [[Category: Cell cycle protein]] | ||
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[[Category: Tertiary]] | [[Category: Tertiary]] | ||
[[Category: Tumor suppressor protein]] | [[Category: Tumor suppressor protein]] | ||
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Revision as of 11:46, 24 March 2013
Contents |
Crystal Structure of DhhN bound to CDOFn3
Template:ABSTRACT PUBMED 20519495
Disease
[DHH_HUMAN] 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.[1] Defects in DHH may be the cause of complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]; also known as 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.[2] [CDON_HUMAN] Defects in CDON are the cause of holoprosencephaly type 11 (HPE11) [MIM:614226]. HPE11 is 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.
Function
[DHH_HUMAN] 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. [CDON_HUMAN] Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity).
About this Structure
3n1q is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Kavran JM, Ward MD, Oladosu OO, Mulepati S, Leahy DJ. All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner. J Biol Chem. 2010 Aug 6;285(32):24584-90. Epub 2010 Jun 1. PMID:20519495 doi:10.1074/jbc.M110.131680
- ↑ 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. 2000 Nov;67(5):1302-5. Epub 2000 Oct 2. PMID:11017805 doi:S0002-9297(07)62958-9
- ↑ Canto P, Soderlund D, Reyes E, Mendez JP. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab. 2004 Sep;89(9):4480-3. PMID:15356051 doi:10.1210/jc.2004-0863
Categories: Homo sapiens | Kavran, J M. | Leahy, D J. | Binding site | Cell adhesion molecule | Cell cycle protein | Cell line | Cell surface | Conserved sequence | Fibronectin | Hedgehog protein | Immunoglobulin g | Membrane glycoprotein | Membrane protein | Protein binding | Receptor | Sequence homology | Signal transduction | Tertiary | Tumor suppressor protein
