INFO: Beginning work on COL3A1... {November 4, 2007 10:22:33 AM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:23:48 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 = Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
| HGNCid = 2201
| Symbol = COL3A1
| AltSymbols =; EDS4A; FLJ34534
| OMIM = 120180
| ECnumber =
| Homologene = 55433
| MGIid = 88453
| GeneAtlas_image1 = PBB_GE_COL3A1_211161_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_COL3A1_201852_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_COL3A1_215076_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005201 |text = extracellular matrix structural constituent}}
| Component = {{GNF_GO|id=GO:0005581 |text = collagen}} {{GNF_GO|id=GO:0005586 |text = collagen type III}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006817 |text = phosphate transport}} {{GNF_GO|id=GO:0008015 |text = circulation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1281
| Hs_Ensembl = ENSG00000168542
| Hs_RefseqProtein = NP_000081
| Hs_RefseqmRNA = NM_000090
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 2
| Hs_GenLoc_start = 189547344
| Hs_GenLoc_end = 189585717
| Hs_Uniprot = P02461
| Mm_EntrezGene = 12825
| Mm_Ensembl = ENSMUSG00000026043
| Mm_RefseqmRNA = NM_009930
| Mm_RefseqProtein = NP_034060
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 1
| Mm_GenLoc_start = 45272979
| Mm_GenLoc_end = 45290601
| Mm_Uniprot =
}}
}}
'''Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)''', also known as '''COL3A1''', 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 fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.<ref>{{cite web | title = Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1281| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. |journal=J. Clin. Invest. |volume=88 |issue= 5 |pages= 1441-4 |year= 1991 |pmid= 1939638 |doi= }}
*{{cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. |journal=Hum. Mutat. |volume=9 |issue= 4 |pages= 300-15 |year= 1997 |pmid= 9101290 |doi= 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:24:56 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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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CTSD_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1lya.
| PDB = {{PDB2|1lya}}, {{PDB2|1lyb}}, {{PDB2|1lyw}}
| Name = Cathepsin D
| HGNCid = 2529
| Symbol = CTSD
| AltSymbols =; CLN10; CPSD; MGC2311
| OMIM = 116840
| ECnumber =
| Homologene = 55616
| MGIid = 88562
| GeneAtlas_image1 = PBB_GE_CTSD_200766_at_tn.png
| GeneAtlas_image2 = PBB_GE_CTSD_gnf1h05436_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004192 |text = cathepsin D activity}} {{GNF_GO|id=GO:0004194 |text = pepsin A activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005764 |text = lysosome}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1509
| Hs_Ensembl = ENSG00000117984
| Hs_RefseqProtein = NP_001900
| Hs_RefseqmRNA = NM_001909
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 1730558
| Hs_GenLoc_end = 1741798
| Hs_Uniprot = P07339
| Mm_EntrezGene = 13033
| Mm_Ensembl = ENSMUSG00000007891
| Mm_RefseqmRNA = NM_009983
| Mm_RefseqProtein = NP_034113
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 142185307
| Mm_GenLoc_end = 142197290
| Mm_Uniprot = Q05BF3
}}
}}
'''Cathepsin D''', also known as '''CTSD''', 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 lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease.<ref>{{cite web | title = Entrez Gene: CTSD cathepsin D| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1509| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Chao J, Miao RQ, Chen V, ''et al.'' |title=Novel roles of kallistatin, a specific tissue kallikrein inhibitor, in vascular remodeling. |journal=Biol. Chem. |volume=382 |issue= 1 |pages= 15-21 |year= 2001 |pmid= 11258665 |doi= }}
*{{cite journal | author=Leto G, Tumminello FM, Crescimanno M, ''et al.'' |title=Cathepsin D expression levels in nongynecological solid tumors: clinical and therapeutic implications. |journal=Clin. Exp. Metastasis |volume=21 |issue= 2 |pages= 91-106 |year= 2004 |pmid= 15168727 |doi= }}
*{{cite journal | author=Liaudet-Coopman E, Beaujouin M, Derocq D, ''et al.'' |title=Cathepsin D: newly discovered functions of a long-standing aspartic protease in cancer and apoptosis. |journal=Cancer Lett. |volume=237 |issue= 2 |pages= 167-79 |year= 2006 |pmid= 16046058 |doi= 10.1016/j.canlet.2005.06.007 }}
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on CYP2E1... {November 4, 2007 10:24:56 AM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:26:15 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 = Cytochrome P450, family 2, subfamily E, polypeptide 1
| HGNCid = 2631
| Symbol = CYP2E1
| AltSymbols =; CPE1; CYP2E; P450-J; P450C2E
| OMIM = 124040
| ECnumber =
| Homologene = 68089
| MGIid = 88607
| GeneAtlas_image1 = PBB_GE_CYP2E1_1431_at_tn.png
| GeneAtlas_image2 = PBB_GE_CYP2E1_209975_at_tn.png
| GeneAtlas_image3 = PBB_GE_CYP2E1_209976_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0050381 |text = unspecific monooxygenase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1571
| Hs_Ensembl = ENSG00000130649
| Hs_RefseqProtein = NP_000764
| Hs_RefseqmRNA = NM_000773
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 135190857
| Hs_GenLoc_end = 135224714
| Hs_Uniprot = P05181
| Mm_EntrezGene = 13106
| Mm_Ensembl = ENSMUSG00000025479
| Mm_RefseqmRNA = NM_021282
| Mm_RefseqProtein = NP_067257
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 140615152
| Mm_GenLoc_end = 140626301
| Mm_Uniprot = Q05421
}}
}}
'''Cytochrome P450, family 2, subfamily E, polypeptide 1''', also known as '''CYP2E1''', 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 member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer.<ref>{{cite web | title = Entrez Gene: CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1571| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Smith G, Stubbins MJ, Harries LW, Wolf CR |title=Molecular genetics of the human cytochrome P450 monooxygenase superfamily. |journal=Xenobiotica |volume=28 |issue= 12 |pages= 1129-65 |year= 1999 |pmid= 9890157 |doi= }}
*{{cite journal | author=Kessova I, Cederbaum AI |title=CYP2E1: biochemistry, toxicology, regulation and function in ethanol-induced liver injury. |journal=Curr. Mol. Med. |volume=3 |issue= 6 |pages= 509-18 |year= 2003 |pmid= 14527082 |doi= }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:29:27 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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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_GHR_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1a22.
| PDB = {{PDB2|1a22}}, {{PDB2|1axi}}, {{PDB2|1hwg}}, {{PDB2|1hwh}}, {{PDB2|1kf9}}, {{PDB2|2aew}}, {{PDB2|3hhr}}
| Name = Growth hormone receptor
| HGNCid = 4263
| Symbol = GHR
| AltSymbols =; GHBP
| OMIM = 600946
| ECnumber =
| Homologene = 134
| MGIid = 95708
| GeneAtlas_image1 = PBB_GE_GHR_205498_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004903 |text = growth hormone receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0019898 |text = extrinsic to membrane}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006897 |text = endocytosis}} {{GNF_GO|id=GO:0040007 |text = growth}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2690
| Hs_Ensembl = ENSG00000112964
| Hs_RefseqProtein = NP_000154
| Hs_RefseqmRNA = NM_000163
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 42459783
| Hs_GenLoc_end = 42757736
| Hs_Uniprot = P10912
| Mm_EntrezGene = 14600
| Mm_Ensembl = ENSMUSG00000055737
| Mm_RefseqmRNA = NM_001048147
| Mm_RefseqProtein = NP_001041612
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 3267774
| Mm_GenLoc_end = 3533231
| Mm_Uniprot = Q3UNY8
}}
}}
'''Growth hormone receptor''', also known as '''GHR''', 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 a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized.<ref>{{cite web | title = Entrez Gene: GHR growth hormone receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2690| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:41:21 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_MME_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1dmt.
| PDB = {{PDB2|1dmt}}, {{PDB2|1r1h}}, {{PDB2|1r1i}}, {{PDB2|1r1j}}, {{PDB2|1y8j}}
| Name = Membrane metallo-endopeptidase
| HGNCid = 7154
| Symbol = MME
| AltSymbols =; NEP; CALLA; CD10; DKFZp686O16152; MGC126681; MGC126707
| OMIM = 120520
| ECnumber =
| Homologene = 5275
| MGIid = 97004
| GeneAtlas_image1 = PBB_GE_MME_203434_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MME_203435_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004245 |text = neprilysin activity}} {{GNF_GO|id=GO:0008237 |text = metallopeptidase activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4311
| Hs_Ensembl = ENSG00000196549
| Hs_RefseqProtein = NP_000893
| Hs_RefseqmRNA = NM_000902
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 3
| Hs_GenLoc_start = 156284651
| Hs_GenLoc_end = 156384186
| Hs_Uniprot = P08473
| Mm_EntrezGene = 17380
| Mm_Ensembl = ENSMUSG00000027820
| Mm_RefseqmRNA = NM_008604
| Mm_RefseqProtein = NP_032630
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 3
| Mm_GenLoc_start = 63383801
| Mm_GenLoc_end = 63470160
| Mm_Uniprot = Q8BNU9
}}
}}
'''Membrane metallo-endopeptidase''', also known as '''MME''', 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 common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing.<ref>{{cite web | title = Entrez Gene: MME membrane metallo-endopeptidase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4311| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=König S, Luger TA, Scholzen TE |title=Monitoring neuropeptide-specific proteases: processing of the proopiomelanocortin peptides adrenocorticotropin and alpha-melanocyte-stimulating hormone in the skin. |journal=Exp. Dermatol. |volume=15 |issue= 10 |pages= 751-61 |year= 2006 |pmid= 16984256 |doi= 10.1111/j.1600-0625.2006.00472.x }}
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on STAT5B... {November 4, 2007 10:46:19 AM PST}
UPLOAD: Added new Image to wiki: {November 4, 2007 10:47:33 AM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:47:52 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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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1y1u.
| PDB = {{PDB2|1y1u}}
| Name = Signal transducer and activator of transcription 5B
| HGNCid = 11367
| Symbol = STAT5B
| AltSymbols =; STAT5
| OMIM = 604260
| ECnumber =
| Homologene = 55718
| MGIid = 103035
| GeneAtlas_image1 = PBB_GE_STAT5B_205026_at_tn.png
| GeneAtlas_image2 = PBB_GE_STAT5B_212549_at_tn.png
| GeneAtlas_image3 = PBB_GE_STAT5B_212550_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0001553 |text = luteinization}} {{GNF_GO|id=GO:0001779 |text = natural killer cell differentiation}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0007259 |text = JAK-STAT cascade}} {{GNF_GO|id=GO:0007565 |text = female pregnancy}} {{GNF_GO|id=GO:0007595 |text = lactation}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0019218 |text = regulation of steroid metabolic process}} {{GNF_GO|id=GO:0019221 |text = cytokine and chemokine mediated signaling pathway}} {{GNF_GO|id=GO:0019915 |text = sequestering of lipid}} {{GNF_GO|id=GO:0030155 |text = regulation of cell adhesion}} {{GNF_GO|id=GO:0030856 |text = regulation of epithelial cell differentiation}} {{GNF_GO|id=GO:0040018 |text = positive regulation of body size}} {{GNF_GO|id=GO:0042104 |text = positive regulation of activated T cell proliferation}} {{GNF_GO|id=GO:0042448 |text = progesterone metabolic process}} {{GNF_GO|id=GO:0043029 |text = T cell homeostasis}} {{GNF_GO|id=GO:0043066 |text = negative regulation of apoptosis}} {{GNF_GO|id=GO:0045086 |text = positive regulation of interleukin-2 biosynthetic process}} {{GNF_GO|id=GO:0045579 |text = positive regulation of B cell differentiation}} {{GNF_GO|id=GO:0045647 |text = negative regulation of erythrocyte differentiation}} {{GNF_GO|id=GO:0045885 |text = positive regulation of survival gene product activity}} {{GNF_GO|id=GO:0045931 |text = positive regulation of progression through mitotic cell cycle}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0046543 |text = development of secondary female sexual characteristics}} {{GNF_GO|id=GO:0046544 |text = development of secondary male sexual characteristics}} {{GNF_GO|id=GO:0050729 |text = positive regulation of inflammatory response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6777
| Hs_Ensembl = ENSG00000173757
| Hs_RefseqProtein = NP_036580
| Hs_RefseqmRNA = NM_012448
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 37604722
| Hs_GenLoc_end = 37681950
| Hs_Uniprot = P51692
| Mm_EntrezGene = 20851
| Mm_Ensembl = ENSMUSG00000020919
| Mm_RefseqmRNA = NM_011489
| Mm_RefseqProtein = NP_035619
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 100596902
| Mm_GenLoc_end = 100666816
| Mm_Uniprot = Q9R0X8
}}
}}
'''Signal transducer and activator of transcription 5B''', also known as '''STAT5B''', 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 member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL.<ref>{{cite web | title = Entrez Gene: STAT5B signal transducer and activator of transcription 5B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6777| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kisseleva T, Bhattacharya S, Braunstein J, Schindler CW |title=Signaling through the JAK/STAT pathway, recent advances and future challenges. |journal=Gene |volume=285 |issue= 1-2 |pages= 1-24 |year= 2002 |pmid= 12039028 |doi= }}
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on TTN... {November 4, 2007 10:52:05 AM PST}
UPLOAD: Added new Image to wiki: {November 4, 2007 10:52:42 AM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:53:25 AM PST}
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| update_page = yes
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| update_protein_box = yes
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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_TTN_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1bpv.
| PDB = {{PDB2|1bpv}}, {{PDB2|1g1c}}, {{PDB2|1h8b}}, {{PDB2|1nct}}, {{PDB2|1ncu}}, {{PDB2|1tit}}, {{PDB2|1tiu}}, {{PDB2|1tki}}, {{PDB2|1tnm}}, {{PDB2|1tnn}}, {{PDB2|1waa}}, {{PDB2|1ya5}}, {{PDB2|2a38}}, {{PDB2|2bk8}}, {{PDB2|2f8v}}, {{PDB2|2ill}}, {{PDB2|2nzi}}
| Name = Titin
| HGNCid = 12403
| Symbol = TTN
| AltSymbols =; CMD1G; CMH9; CMPD4; DKFZp451N061; FLJ26020; FLJ26409; FLJ32040; FLJ34413; FLJ39564; FLJ43066; HMERF; LGMD2J; TMD
| OMIM = 188840
| ECnumber =
| Homologene = 26418
| MGIid = 98864
| GeneAtlas_image1 = PBB_GE_TTN_208195_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004601 |text = peroxidase activity}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0004713 |text = protein-tyrosine kinase activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005199 |text = structural constituent of cell wall}} {{GNF_GO|id=GO:0005516 |text = calmodulin binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008307 |text = structural constituent of muscle}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0017022 |text = myosin binding}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}} {{GNF_GO|id=GO:0051393 |text = alpha-actinin binding}}
| Component = {{GNF_GO|id=GO:0000794 |text = condensed nuclear chromosome}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0030018 |text = Z disc}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0006941 |text = striated muscle contraction}} {{GNF_GO|id=GO:0006979 |text = response to oxidative stress}} {{GNF_GO|id=GO:0007067 |text = mitosis}} {{GNF_GO|id=GO:0030239 |text = myofibril assembly}} {{GNF_GO|id=GO:0046777 |text = protein amino acid autophosphorylation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7273
| Hs_Ensembl = ENSG00000155657
| Hs_RefseqProtein = NP_003310
| Hs_RefseqmRNA = NM_003319
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 2
| Hs_GenLoc_start = 179099985
| Hs_GenLoc_end = 179380394
| Hs_Uniprot = Q8WZ42
| Mm_EntrezGene = 22138
| Mm_Ensembl = ENSMUSG00000051747
| Mm_RefseqmRNA = NM_011652
| Mm_RefseqProtein = NP_035782
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 76514471
| Mm_GenLoc_end = 76641992
| Mm_Uniprot =
}}
}}
'''Titin''', also known as '''TTN''', 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 large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. A N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere respectively so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Of the many titin variants identified, five for which complete transcript information is available are described. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9 and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma.<ref>{{cite web | title = Entrez Gene: TTN titin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7273| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kinbara K, Sorimachi H, Ishiura S, Suzuki K |title=Skeletal muscle-specific calpain, p49: structure and physiological function. |journal=Biochem. Pharmacol. |volume=56 |issue= 4 |pages= 415-20 |year= 1998 |pmid= 9763216 |doi= }}
*{{cite journal | author=Kolmerer B, Witt CC, Freiburg A, ''et al.'' |title=The titin cDNA sequence and partial genomic sequences: insights into the molecular genetics, cell biology and physiology of the titin filament system. |journal=Rev. Physiol. Biochem. Pharmacol. |volume=138 |issue= |pages= 19-55 |year= 1999 |pmid= 10396137 |doi= }}
*{{cite journal | author=Trinick J, Tskhovrebova L |title=Titin: a molecular control freak. |journal=Trends Cell Biol. |volume=9 |issue= 10 |pages= 377-80 |year= 1999 |pmid= 10481174 |doi= }}
*{{cite journal | author=Sorimachi H, Ono Y, Suzuki K |title=Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. |journal=Adv. Exp. Med. Biol. |volume=481 |issue= |pages= 383-95; discussion 395-7 |year= 2000 |pmid= 10987085 |doi= }}
*{{cite journal | author=Tskhovrebova L, Trinick J |title=Role of titin in vertebrate striated muscle. |journal=Philos. Trans. R. Soc. Lond., B, Biol. Sci. |volume=357 |issue= 1418 |pages= 199-206 |year= 2002 |pmid= 11911777 |doi= 10.1098/rstb.2001.1028 }}
*{{cite journal | author=Sela BA |title=[Titin: some aspects of the largest protein in the body] |journal=Harefuah |volume=141 |issue= 7 |pages= 631-5, 665 |year= 2002 |pmid= 12187564 |doi= }}
*{{cite journal | author=Wu Y, Labeit S, Lewinter MM, Granzier H |title=Titin: an endosarcomeric protein that modulates myocardial stiffness in DCM. |journal=J. Card. Fail. |volume=8 |issue= 6 Suppl |pages= S276-86 |year= 2003 |pmid= 12555133 |doi= 10.1054/jcaf.2002.129278 }}
*{{cite journal | author=Tskhovrebova L, Trinick J |title=Properties of titin immunoglobulin and fibronectin-3 domains. |journal=J. Biol. Chem. |volume=279 |issue= 45 |pages= 46351-4 |year= 2004 |pmid= 15322090 |doi= 10.1074/jbc.R400023200 }}
}}
{{refend}}
{{protein-stub}}