Other Pages: Endoglin (Protein Template); ENG (DisAmbig); CD105 (Redirect -> Endoglin); Cd105 (No Data); END (No Data); End (DisAmbig); FLJ41744 (No Data); Flj41744 (No Data); HHT1 (No Data); Hht1 (No Data); ORW (No Data); Orw (No Data); ORW1 (No Data); Orw1 (No Data);
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 11:07:22 AM PST}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CD46_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1ckl.
| PDB = {{PDB2|1ckl}}, {{PDB2|2o39}}
| Name = CD46 molecule, complement regulatory protein
| HGNCid = 6953
| Symbol = CD46
| AltSymbols =; MCP; MGC26544; MIC10; TLX; TRA2.10
| OMIM = 120920
| ECnumber =
| Homologene = 7832
| MGIid = 1203290
| GeneAtlas_image1 = PBB_GE_CD46_208783_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CD46_207549_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_CD46_211574_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0006958 |text = complement activation, classical pathway}} {{GNF_GO|id=GO:0007338 |text = single fertilization}} {{GNF_GO|id=GO:0045087 |text = innate immune response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4179
| Hs_Ensembl = ENSG00000117335
| Hs_RefseqProtein = NP_002380
| Hs_RefseqmRNA = NM_002389
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 1
| Hs_GenLoc_start = 205992025
| Hs_GenLoc_end = 206035481
| Hs_Uniprot = P15529
| Mm_EntrezGene = 17221
| Mm_Ensembl = ENSMUSG00000016493
| Mm_RefseqmRNA = NM_010778
| Mm_RefseqProtein = NP_034908
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 1
| Mm_GenLoc_start = 196763073
| Mm_GenLoc_end = 196792949
| Mm_Uniprot = O88174
}}
}}
'''CD46 molecule, complement regulatory protein''', also known as '''CD46''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. This gene is found in a cluster on chromosome 1q32 with other genes encoding structural components of the complement system. At least fourteen different transcript variants encoding fourteen different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: CD46 CD46 molecule, complement regulatory protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4179| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on CXCR3... {November 4, 2007 11:02:50 AM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 11:04:06 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Chemokine (C-X-C motif) receptor 3
| HGNCid = 4540
| Symbol = CXCR3
| AltSymbols =; CD182; CD183; CKR-L2; CMKAR3; GPR9; IP10; IP10-R; Mig-R; MigR
| OMIM = 300574
| ECnumber =
| Homologene = 1153
| MGIid = 1277207
| GeneAtlas_image1 = PBB_GE_CXCR3_207681_at_tn.png
| GeneAtlas_image2 = PBB_GE_CXCR3_217119_s_at_tn.png
| Function = {{GNF_GO|id=GO:0001584 |text = rhodopsin-like receptor activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0016493 |text = C-C chemokine receptor activity}} {{GNF_GO|id=GO:0016494 |text = C-X-C chemokine receptor activity}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0006935 |text = chemotaxis}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007204 |text = elevation of cytosolic calcium ion concentration}} {{GNF_GO|id=GO:0019735 |text = antimicrobial humoral response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2833
| Hs_Ensembl = ENSG00000186810
| Hs_RefseqProtein = NP_001495
| Hs_RefseqmRNA = NM_001504
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 70752491
| Hs_GenLoc_end = 70755092
| Hs_Uniprot = P49682
| Mm_EntrezGene = 12766
| Mm_Ensembl = ENSMUSG00000050232
| Mm_RefseqmRNA = NM_009910
| Mm_RefseqProtein = NP_034040
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 97934255
| Mm_GenLoc_end = 97936866
| Mm_Uniprot = O88410
}}
}}
'''Chemokine (C-X-C motif) receptor 3''', also known as '''CXCR3''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = CD183 is a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Historically, CD183 is the third CXC chemokine receptor discovered and, therefore, commonly designated as CXCR3. Binding of chemokines to CD183 induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to CD183. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. A hallmark of CD183 is its prominent expression in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that CD183 and its chemokines participate in the recruitment of inflammatory cells. Therefore, CD183 is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases.<ref>{{cite web | title = Entrez Gene: CXCR3 chemokine (C-X-C motif) receptor 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2833| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on F2RL1... {November 4, 2007 11:01:04 AM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 11:02:07 AM PST}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Coagulation factor II (thrombin) receptor-like 1
| HGNCid = 3538
| Symbol = F2RL1
| AltSymbols =; GPR11; PAR2
| OMIM = 600933
| ECnumber =
| Homologene = 21087
| MGIid = 101910
| GeneAtlas_image1 = PBB_GE_F2RL1_206429_at_tn.png
| GeneAtlas_image2 = PBB_GE_F2RL1_213506_at_tn.png
| Function = {{GNF_GO|id=GO:0001584 |text = rhodopsin-like receptor activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005102 |text = receptor binding}} {{GNF_GO|id=GO:0015057 |text = thrombin receptor activity}}
| Component = {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007204 |text = elevation of cytosolic calcium ion concentration}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2150
| Hs_Ensembl = ENSG00000164251
| Hs_RefseqProtein = NP_005233
| Hs_RefseqmRNA = NM_005242
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 76150610
| Hs_GenLoc_end = 76166895
| Hs_Uniprot = P55085
| Mm_EntrezGene = 14063
| Mm_Ensembl = ENSMUSG00000021678
| Mm_RefseqmRNA = NM_007974
| Mm_RefseqProtein = NP_032000
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 13
| Mm_GenLoc_start = 96612414
| Mm_GenLoc_end = 96625917
| Mm_Uniprot = Q3TU81
}}
}}
'''Coagulation factor II (thrombin) receptor-like 1''', also known as '''F2RL1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL1 is also a member of the protease-activated receptor family. It is activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. The F2RL1 gene contains two exons and is widely expressed in human tissues. The predicted protein sequence is 83% identical to the mouse receptor sequence.<ref>{{cite web | title = Entrez Gene: F2RL1 coagulation factor II (thrombin) receptor-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2150| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kunzelmann K, Schreiber R, König J, Mall M |title=Ion transport induced by proteinase-activated receptors (PAR2) in colon and airways. |journal=Cell Biochem. Biophys. |volume=36 |issue= 2-3 |pages= 209-14 |year= 2003 |pmid= 12139406 |doi= }}
*{{cite journal | author=Kawabata A |title=PAR-2: structure, function and relevance to human diseases of the gastric mucosa. |journal=Expert reviews in molecular medicine |volume=4 |issue= 16 |pages= 1-17 |year= 2004 |pmid= 14585156 |doi= doi:10.1017/S1462399402004799 }}
*{{cite journal | author=Bushell T |title=The emergence of proteinase-activated receptor-2 as a novel target for the treatment of inflammation-related CNS disorders. |journal=J. Physiol. (Lond.) |volume=581 |issue= Pt 1 |pages= 7-16 |year= 2007 |pmid= 17347265 |doi= 10.1113/jphysiol.2007.129577 }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 11:14:27 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PRKCG_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1tbn.
| PDB = {{PDB2|1tbn}}, {{PDB2|1tbo}}, {{PDB2|2uzp}}
| Name = Protein kinase C, gamma
| HGNCid = 9402
| Symbol = PRKCG
| AltSymbols =; MGC57564; PKC-gamma; PKCC; PKCG; SCA14
| OMIM = 176980
| ECnumber =
| Homologene = 20602
| MGIid =
| GeneAtlas_image1 = PBB_GE_PRKCG_206270_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004697 |text = protein kinase C activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0019992 |text = diacylglycerol binding}}
| Component =
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0008219 |text = cell death}} {{GNF_GO|id=GO:0031397 |text = negative regulation of protein ubiquitination}} {{GNF_GO|id=GO:0032425 |text = positive regulation of mismatch repair}} {{GNF_GO|id=GO:0042177 |text = negative regulation of protein catabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5582
| Hs_Ensembl = ENSG00000126583
| Hs_RefseqProtein = NP_002730
| Hs_RefseqmRNA = NM_002739
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 19
| Hs_GenLoc_start = 59077279
| Hs_GenLoc_end = 59102713
| Hs_Uniprot = P05129
| Mm_EntrezGene =
| Mm_Ensembl =
| Mm_RefseqmRNA =
| Mm_RefseqProtein =
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Protein kinase C, gamma''', also known as '''PRKCG''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14).<ref>{{cite web | title = Entrez Gene: PRKCG protein kinase C, gamma| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5582| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Ali A, Hoeflich KP, Woodgett JR |title=Glycogen synthase kinase-3: properties, functions, and regulation. |journal=Chem. Rev. |volume=101 |issue= 8 |pages= 2527-40 |year= 2002 |pmid= 11749387 |doi= }}
*{{cite journal | author=Slater SJ, Ho C, Stubbs CD |title=The use of fluorescent phorbol esters in studies of protein kinase C-membrane interactions. |journal=Chem. Phys. Lipids |volume=116 |issue= 1-2 |pages= 75-91 |year= 2003 |pmid= 12093536 |doi= }}
*{{cite journal | author=Saito N, Shirai Y |title=Protein kinase C gamma (PKC gamma): function of neuron specific isotype. |journal=J. Biochem. |volume=132 |issue= 5 |pages= 683-7 |year= 2003 |pmid= 12417016 |doi= }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 11:16:21 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_SHH_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1vhh.
| PDB = {{PDB2|1vhh}}
| Name = Sonic hedgehog homolog (Drosophila)
| HGNCid = 10848
| Symbol = SHH
| AltSymbols =; HHG1; HLP3; HPE3; SMMCI
| OMIM = 600725
| ECnumber =
| Homologene = 30961
| MGIid = 98297
| GeneAtlas_image1 = PBB_GE_SHH_207586_at_tn.png
| Function = {{GNF_GO|id=GO:0005113 |text = patched binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}} {{GNF_GO|id=GO:0043237 |text = laminin-1 binding}}
| Component = {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0009986 |text = cell surface}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0045121 |text = lipid raft}}
| Process = {{GNF_GO|id=GO:0001569 |text = patterning of blood vessels}} {{GNF_GO|id=GO:0001570 |text = vasculogenesis}} {{GNF_GO|id=GO:0001656 |text = metanephros development}} {{GNF_GO|id=GO:0001658 |text = ureteric bud branching}} {{GNF_GO|id=GO:0001708 |text = cell fate specification}} {{GNF_GO|id=GO:0001755 |text = neural crest cell migration}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007224 |text = smoothened signaling pathway}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0007389 |text = pattern specification process}} {{GNF_GO|id=GO:0007405 |text = neuroblast proliferation}} {{GNF_GO|id=GO:0007411 |text = axon guidance}} {{GNF_GO|id=GO:0007418 |text = ventral midline development}} {{GNF_GO|id=GO:0007435 |text = salivary gland morphogenesis}} {{GNF_GO|id=GO:0007500 |text = mesodermal cell fate determination}} {{GNF_GO|id=GO:0007507 |text = heart development}} {{GNF_GO|id=GO:0008209 |text = androgen metabolic process}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0009953 |text = dorsal/ventral pattern formation}} {{GNF_GO|id=GO:0014003 |text = oligodendrocyte development}} {{GNF_GO|id=GO:0016539 |text = intein-mediated protein splicing}} {{GNF_GO|id=GO:0030162 |text = regulation of proteolysis}} {{GNF_GO|id=GO:0030324 |text = lung development}} {{GNF_GO|id=GO:0030336 |text = negative regulation of cell migration}} {{GNF_GO|id=GO:0030539 |text = male genitalia development}} {{GNF_GO|id=GO:0030850 |text = prostate gland development}} {{GNF_GO|id=GO:0030900 |text = forebrain development}} {{GNF_GO|id=GO:0030901 |text = midbrain development}} {{GNF_GO|id=GO:0030902 |text = hindbrain development}} {{GNF_GO|id=GO:0042733 |text = embryonic digit morphogenesis}} {{GNF_GO|id=GO:0045596 |text = negative regulation of cell differentiation}} {{GNF_GO|id=GO:0048468 |text = cell development}} {{GNF_GO|id=GO:0048598 |text = embryonic morphogenesis}} {{GNF_GO|id=GO:0048663 |text = neuron fate commitment}} {{GNF_GO|id=GO:0051146 |text = striated muscle cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6469
| Hs_Ensembl = ENSG00000164690
| Hs_RefseqProtein = NP_000184
| Hs_RefseqmRNA = NM_000193
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 7
| Hs_GenLoc_start = 155288319
| Hs_GenLoc_end = 155297728
| Hs_Uniprot = Q15465
| Mm_EntrezGene = 20423
| Mm_Ensembl = ENSMUSG00000002633
| Mm_RefseqmRNA = NM_009170
| Mm_RefseqProtein = NP_033196
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 28787602
| Mm_GenLoc_end = 28797888
| Mm_Uniprot = Q8C765
}}
}}
'''Sonic hedgehog homolog (Drosophila)''', also known as '''SHH''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly.<ref>{{cite web | title = Entrez Gene: SHH sonic hedgehog homolog (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6469| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kim J, Kim P, Hui CC |title=The VACTERL association: lessons from the Sonic hedgehog pathway. |journal=Clin. Genet. |volume=59 |issue= 5 |pages= 306-15 |year= 2001 |pmid= 11359461 |doi= }}
*{{cite journal | author=Nanni L, Ming JE, Du Y, ''et al.'' |title=SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. |journal=Am. J. Med. Genet. |volume=102 |issue= 1 |pages= 1-10 |year= 2001 |pmid= 11471164 |doi= }}
*{{cite journal | author=Mullor JL, Sánchez P, Altaba AR |title=Pathways and consequences: Hedgehog signaling in human disease. |journal=Trends Cell Biol. |volume=12 |issue= 12 |pages= 562-9 |year= 2003 |pmid= 12495844 |doi= }}
*{{cite journal | author=Williams JA |title=Hedgehog and spinal cord injury. |journal=Expert Opin. Ther. Targets |volume=9 |issue= 6 |pages= 1137-45 |year= 2006 |pmid= 16300466 |doi= 10.1517/14728222.9.6.1137 }}
*{{cite journal | author=Morton JP, Lewis BC |title=Shh signaling and pancreatic cancer: implications for therapy? |journal=Cell Cycle |volume=6 |issue= 13 |pages= 1553-7 |year= 2007 |pmid= 17611415 |doi= }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 11:20:25 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_YWHAB_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2bq0.
| PDB = {{PDB2|2bq0}}, {{PDB2|2c23}}
| Name = Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide
| HGNCid = 12849
| Symbol = YWHAB
| AltSymbols =; HS1; GW128; KCIP-1
| OMIM = 601289
| ECnumber =
| Homologene = 20724
| MGIid = 1891917
| GeneAtlas_image1 = PBB_GE_YWHAB_208743_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_YWHAB_217717_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_YWHAB_217718_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0019904 |text = protein domain specific binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0048471 |text = perinuclear region of cytoplasm}}
| Process = {{GNF_GO|id=GO:0006605 |text = protein targeting}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7529
| Hs_Ensembl = ENSG00000166913
| Hs_RefseqProtein = NP_003395
| Hs_RefseqmRNA = NM_003404
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 20
| Hs_GenLoc_start = 42947731
| Hs_GenLoc_end = 42970587
| Hs_Uniprot = P31946
| Mm_EntrezGene = 54401
| Mm_Ensembl = ENSMUSG00000018326
| Mm_RefseqmRNA = NM_018753
| Mm_RefseqProtein = NP_061223
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 163686638
| Mm_GenLoc_end = 163710028
| Mm_Uniprot = Q9CQV8
}}
}}
'''Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide''', also known as '''YWHAB''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene.<ref>{{cite web | title = Entrez Gene: YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7529| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kino T, Pavlakis GN |title=Partner molecules of accessory protein Vpr of the human immunodeficiency virus type 1. |journal=DNA Cell Biol. |volume=23 |issue= 4 |pages= 193-205 |year= 2004 |pmid= 15142377 |doi= 10.1089/104454904773819789 }}
*{{cite journal | author=Kino T, Chrousos GP |title=Human immunodeficiency virus type-1 accessory protein Vpr: a causative agent of the AIDS-related insulin resistance/lipodystrophy syndrome? |journal=Ann. N. Y. Acad. Sci. |volume=1024 |issue= |pages= 153-67 |year= 2004 |pmid= 15265780 |doi= 10.1196/annals.1321.013 }}
*{{cite journal | author=Calinisan V, Gravem D, Chen RP, ''et al.'' |title=New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium. |journal=Front. Biosci. |volume=11 |issue= |pages= 1646-66 |year= 2006 |pmid= 16368544 |doi= }}
}}
{{refend}}
{{protein-stub}}
{November 4, 2007 10:58:10 AM PST} 
{November 4, 2007 11:09:11 AM PST} 
{November 4, 2007 11:12:24 AM PST} 
