INFO: Beginning work on CAST... {November 8, 2007 12:52:15 PM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 12:53:47 PM 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 = Calpastatin
| HGNCid = 1515
| Symbol = CAST
| AltSymbols =; BS-17; MGC9402
| OMIM = 114090
| ECnumber =
| Homologene = 7658
| MGIid = 1098236
| GeneAtlas_image1 = PBB_GE_CAST_212586_at_tn.png
| GeneAtlas_image2 = PBB_GE_CAST_207467_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_CAST_208908_s_at_tn.png
| Function = {{GNF_GO|id=GO:0030161 |text = calpain inhibitor activity}}
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 831
| Hs_Ensembl = ENSG00000153113
| Hs_RefseqProtein = NP_001035905
| Hs_RefseqmRNA = NM_001042440
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 96023533
| Hs_GenLoc_end = 96136143
| Hs_Uniprot = P20810
| Mm_EntrezGene = 12380
| Mm_Ensembl = ENSMUSG00000021585
| Mm_RefseqmRNA = XM_990139
| Mm_RefseqProtein = XP_995233
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 13
| Mm_GenLoc_start = 75160288
| Mm_GenLoc_end = 75274762
| Mm_Uniprot = Q3TTN2
}}
}}
'''Calpastatin''', also known as '''CAST''', 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 an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length natures of only some have been determined.<ref>{{cite web | title = Entrez Gene: CAST calpastatin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=831| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Murachi T |title=Intracellular regulatory system involving calpain and calpastatin. |journal=Biochem. Int. |volume=18 |issue= 2 |pages= 263-94 |year= 1989 |pmid= 2548504 |doi= }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 12:55:15 PM PST}
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{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
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| update_summary = 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_DCX_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1mjd.
| PDB = {{PDB2|1mjd}}, {{PDB2|2bqq}}
| Name = Doublecortex; lissencephaly, X-linked (doublecortin)
| HGNCid = 2714
| Symbol = DCX
| AltSymbols =; DBCN; DC; LISX; SCLH; XLIS
| OMIM = 300121
| ECnumber =
| Homologene = 7683
| MGIid = 1277171
| GeneAtlas_image1 = PBB_GE_DCX_204850_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_DCX_204851_s_at_tn.png
| Function = {{GNF_GO|id=GO:0008017 |text = microtubule binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005875 |text = microtubule associated complex}}
| Process = {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007417 |text = central nervous system development}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1641
| Hs_Ensembl = ENSG00000077279
| Hs_RefseqProtein = NP_000546
| Hs_RefseqmRNA = NM_000555
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 110423663
| Hs_GenLoc_end = 110542259
| Hs_Uniprot = O43602
| Mm_EntrezGene = 13193
| Mm_Ensembl = ENSMUSG00000031285
| Mm_RefseqmRNA = NM_010025
| Mm_RefseqProtein = NP_034155
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 139102214
| Mm_GenLoc_end = 139179679
| Mm_Uniprot = Q3V349
}}
}}
'''Doublecortex; lissencephaly, X-linked (doublecortin)''', also known as '''DCX''', 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 = In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The protein encoded by this gene is a cytoplasmic protein which appears to direct neuronal migration by regulating the organization and stability of microtubules. The encoded protein contains two doublecortin domains, which bind microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene are a cause of X-linked lissencephaly. Multiple transcript variants encoding at least three different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: DCX doublecortex; lissencephaly, X-linked (doublecortin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1641| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 1:11:12 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
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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_PDCD6IP_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2oev.
| PDB = {{PDB2|2oev}}, {{PDB2|2oew}}, {{PDB2|2oex}}, {{PDB2|2ojq}}
| Name = Programmed cell death 6 interacting protein
| HGNCid = 8766
| Symbol = PDCD6IP
| AltSymbols =; AIP1; Alix; DRIP4; HP95; MGC17003
| OMIM = 608074
| ECnumber =
| Homologene = 22614
| MGIid = 1333753
| GeneAtlas_image1 = PBB_GE_PDCD6IP_217746_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005829 |text = cytosol}}
| Process = {{GNF_GO|id=GO:0006915 |text = apoptosis}} {{GNF_GO|id=GO:0015031 |text = protein transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 10015
| Hs_Ensembl = ENSG00000170248
| Hs_RefseqProtein = NP_037506
| Hs_RefseqmRNA = NM_013374
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 3
| Hs_GenLoc_start = 33814561
| Hs_GenLoc_end = 33886198
| Hs_Uniprot = Q8WUM4
| Mm_EntrezGene = 18571
| Mm_Ensembl = ENSMUSG00000032504
| Mm_RefseqmRNA = NM_011052
| Mm_RefseqProtein = NP_035182
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 113501953
| Mm_GenLoc_end = 113556927
| Mm_Uniprot = Q3TED2
}}
}}
'''Programmed cell death 6 interacting protein''', also known as '''PDCD6IP''', 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 thought to participate in programmed cell death. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization which may be partly responsible for the protection against cell death.<ref>{{cite web | title = Entrez Gene: PDCD6IP programmed cell death 6 interacting protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10015| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on PRPH2... {November 8, 2007 12:58:00 PM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 12:58:42 PM PST}
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{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = 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 =
| PDB =
| Name = Peripherin 2 (retinal degeneration, slow)
| HGNCid = 9942
| Symbol = PRPH2
| AltSymbols =; PRPH; AOFMD; AVMD; RDS; RP7; TSPAN22; rd2
| OMIM = 179605
| ECnumber =
| Homologene = 273
| MGIid = 102791
| GeneAtlas_image1 = PBB_GE_PRPH2_206625_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5961
| Hs_Ensembl = ENSG00000112619
| Hs_RefseqProtein = NP_000313
| Hs_RefseqmRNA = NM_000322
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 6
| Hs_GenLoc_start = 42772318
| Hs_GenLoc_end = 42798290
| Hs_Uniprot = P23942
| Mm_EntrezGene = 19133
| Mm_Ensembl = ENSMUSG00000023978
| Mm_RefseqmRNA = NM_008938
| Mm_RefseqProtein = NP_032964
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 46373676
| Mm_GenLoc_end = 46388117
| Mm_Uniprot = Q3UWK3
}}
}}
'''Peripherin 2 (retinal degeneration, slow)''', also known as '''PRPH2''', 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 transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic.<ref>{{cite web | title = Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5961| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye. |journal=J. Cell. Sci. |volume=114 |issue= Pt 23 |pages= 4143-51 |year= 2002 |pmid= 11739647 |doi= }}
*{{cite journal | author=Boesze-Battaglia K, Goldberg AF |title=Photoreceptor renewal: a role for peripherin/rds. |journal=Int. Rev. Cytol. |volume=217 |issue= |pages= 183-225 |year= 2002 |pmid= 12019563 |doi= }}
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on PSME3... {November 8, 2007 1:11:45 PM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 1:13:45 PM PST}
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{{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 =
| PDB =
| Name = Proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)
| HGNCid = 9570
| Symbol = PSME3
| AltSymbols =; Ki; PA28-gamma; PA28G; REG-GAMMA
| OMIM = 605129
| ECnumber =
| Homologene = 2111
| MGIid = 1096366
| GeneAtlas_image1 = PBB_GE_PSME3_200988_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PSME3_200987_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_PSME3_209852_x_at_tn.png
| Function = {{GNF_GO|id=GO:0008538 |text = proteasome activator activity}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}}
| Component = {{GNF_GO|id=GO:0000502 |text = proteasome complex (sensu Eukaryota)}} {{GNF_GO|id=GO:0005829 |text = cytosol}} {{GNF_GO|id=GO:0008537 |text = proteasome activator complex}}
| Process =
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 10197
| Hs_Ensembl = ENSG00000131467
| Hs_RefseqProtein = NP_005780
| Hs_RefseqmRNA = NM_005789
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 38238949
| Hs_GenLoc_end = 38249301
| Hs_Uniprot = P61289
| Mm_EntrezGene = 19192
| Mm_Ensembl =
| Mm_RefseqmRNA = NM_011192
| Mm_RefseqProtein = NP_035322
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)''', also known as '''PSME3''', 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 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Two transcript variants encoding different isoforms have been identified.<ref>{{cite web | title = Entrez Gene: PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10197| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Coux O, Tanaka K, Goldberg AL |title=Structure and functions of the 20S and 26S proteasomes. |journal=Annu. Rev. Biochem. |volume=65 |issue= |pages= 801-47 |year= 1996 |pmid= 8811196 |doi= 10.1146/annurev.bi.65.070196.004101 }}
*{{cite journal | author=Goff SP |title=Death by deamination: a novel host restriction system for HIV-1. |journal=Cell |volume=114 |issue= 3 |pages= 281-3 |year= 2003 |pmid= 12914693 |doi= }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 12:58:00 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
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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_PTPN13_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1d5g.
| PDB = {{PDB2|1d5g}}, {{PDB2|1gm1}}, {{PDB2|1ozi}}, {{PDB2|1q7x}}, {{PDB2|1vj6}}, {{PDB2|1wch}}, {{PDB2|3pdz}}
| Name = Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
| HGNCid = 9646
| Symbol = PTPN13
| AltSymbols =; DKFZp686J1497; FAP-1; PNP1; PTP-BAS; PTP-BL; PTP1E; PTPL1; PTPLE
| OMIM = 600267
| ECnumber =
| Homologene = 7909
| MGIid = 103293
| GeneAtlas_image1 = PBB_GE_PTPN13_204201_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004726 |text = non-membrane spanning protein tyrosine phosphatase activity}} {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}}
| Process = {{GNF_GO|id=GO:0006470 |text = protein amino acid dephosphorylation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5783
| Hs_Ensembl = ENSG00000163629
| Hs_RefseqProtein = NP_006255
| Hs_RefseqmRNA = NM_006264
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 4
| Hs_GenLoc_start = 87734909
| Hs_GenLoc_end = 87955326
| Hs_Uniprot = Q12923
| Mm_EntrezGene = 19249
| Mm_Ensembl = ENSMUSG00000034573
| Mm_RefseqmRNA = NM_011204
| Mm_RefseqProtein = NP_035334
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 103665481
| Mm_GenLoc_end = 103838654
| Mm_Uniprot = Q6PG62
}}
}}
'''Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)''', also known as '''PTPN13''', 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 protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large protein that possesses a PTP domain at C-terminus, and multiple noncatalytic domains, which include a domain with similarity to band 4.1 superfamily of cytoskeletal-associated proteins, a region consisting of five PDZ domains, and a leucine zipper motif. This PTP was found to interact with, and dephosphorylate Fas receptor, as well as IkappaBalpha through the PDZ domains, which suggested its role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathway. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported.<ref>{{cite web | title = Entrez Gene: PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5783| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
INFO: Beginning work on SLC22A5... {November 8, 2007 12:59:34 PM PST}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 1:00:13 PM 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 =
| PDB =
| Name = Solute carrier family 22 (organic cation transporter), member 5
| HGNCid = 10969
| Symbol = SLC22A5
| AltSymbols =; CDSP; FLJ46769; OCTN2
| OMIM = 603377
| ECnumber =
| Homologene = 68295
| MGIid = 1329012
| GeneAtlas_image1 = PBB_GE_SLC22A5_205074_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0015075 |text = ion transmembrane transporter activity}} {{GNF_GO|id=GO:0015226 |text = carnitine transporter activity}} {{GNF_GO|id=GO:0015293 |text = symporter activity}} {{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}} {{GNF_GO|id=GO:0015879 |text = carnitine transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6584
| Hs_Ensembl = ENSG00000197375
| Hs_RefseqProtein = NP_003051
| Hs_RefseqmRNA = NM_003060
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 131733343
| Hs_GenLoc_end = 131759205
| Hs_Uniprot = O76082
| Mm_EntrezGene = 20520
| Mm_Ensembl = ENSMUSG00000018900
| Mm_RefseqmRNA = NM_011396
| Mm_RefseqProtein = NP_035526
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 53707951
| Mm_GenLoc_end = 53735083
| Mm_Uniprot = Q3USA0
}}
}}
'''Solute carrier family 22 (organic cation transporter), member 5''', also known as '''SLC22A5''', 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 = Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy.<ref>{{cite web | title = Entrez Gene: SLC22A5 solute carrier family 22 (organic cation transporter), member 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6584| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Silverberg MS |title=OCTNs: will the real IBD5 gene please stand up? |journal=World J. Gastroenterol. |volume=12 |issue= 23 |pages= 3678-81 |year= 2006 |pmid= 16773684 |doi= }}
}}
{{refend}}
{{protein-stub}}
AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 1:02:39 PM PST}
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{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| 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_SMARCA2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2dat.
| PDB = {{PDB2|2dat}}
| Name = SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
| HGNCid = 11098
| Symbol = SMARCA2
| AltSymbols =; SWI2; BAF190; BRM; FLJ36757; MGC74511; SNF2; SNF2L2; SNF2LA; Sth1p; hBRM; hSNF2a
| OMIM = 600014
| ECnumber =
| Homologene = 2308
| MGIid = 99603
| GeneAtlas_image1 = PBB_GE_SMARCA2_206542_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_SMARCA2_206544_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_SMARCA2_217707_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0004386 |text = helicase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005654 |text = nucleoplasm}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6595
| Hs_Ensembl = ENSG00000080503
| Hs_RefseqProtein = NP_003061
| Hs_RefseqmRNA = NM_003070
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 9
| Hs_GenLoc_start = 2005342
| Hs_GenLoc_end = 2183624
| Hs_Uniprot = P51531
| Mm_EntrezGene = 67155
| Mm_Ensembl = ENSMUSG00000024921
| Mm_RefseqmRNA = NM_011416
| Mm_RefseqProtein = NP_035546
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 19
| Mm_GenLoc_start = 26672257
| Mm_GenLoc_end = 26845418
| Mm_Uniprot =
}}
}}
'''SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2''', also known as '''SMARCA2''', 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 SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism.<ref>{{cite web | title = Entrez Gene: SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6595| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}