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| | <StructureSection load='2eh0' size='340' side='right'caption='[[2eh0]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | | <StructureSection load='2eh0' size='340' side='right'caption='[[2eh0]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2eh0]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EH0 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EH0 FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2eh0]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EH0 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EH0 FirstGlance]. <br> |
| - | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2eh0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2eh0 OCA], [http://pdbe.org/2eh0 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2eh0 RCSB], [http://www.ebi.ac.uk/pdbsum/2eh0 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2eh0 ProSAT], [http://www.topsan.org/Proteins/RSGI/2eh0 TOPSAN]</span></td></tr> | + | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2eh0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2eh0 OCA], [https://pdbe.org/2eh0 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2eh0 RCSB], [https://www.ebi.ac.uk/pdbsum/2eh0 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2eh0 ProSAT], [https://www.topsan.org/Proteins/RSGI/2eh0 TOPSAN]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/KIF1B_HUMAN KIF1B_HUMAN]] Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:[http://omim.org/entry/118210 118210]]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.<ref>PMID:11389829</ref> Defects in KIF1B are the cause of susceptibility to neuroblastoma type 1 (NBLST1) [MIM:[http://omim.org/entry/256700 256700]]. A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Defects in KIF1B are a cause of susceptibility to pheochromocytoma (PCC) [MIM:[http://omim.org/entry/171300 171300]]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. | + | [[https://www.uniprot.org/uniprot/KIF1B_HUMAN KIF1B_HUMAN]] Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:[https://omim.org/entry/118210 118210]]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.<ref>PMID:11389829</ref> Defects in KIF1B are the cause of susceptibility to neuroblastoma type 1 (NBLST1) [MIM:[https://omim.org/entry/256700 256700]]. A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Defects in KIF1B are a cause of susceptibility to pheochromocytoma (PCC) [MIM:[https://omim.org/entry/171300 171300]]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/KIF1B_HUMAN KIF1B_HUMAN]] Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.<ref>PMID:18334619</ref> | + | [[https://www.uniprot.org/uniprot/KIF1B_HUMAN KIF1B_HUMAN]] Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.<ref>PMID:18334619</ref> |
| | == Evolutionary Conservation == | | == Evolutionary Conservation == |
| | [[Image:Consurf_key_small.gif|200px|right]] | | [[Image:Consurf_key_small.gif|200px|right]] |
| Structural highlights
Disease
[KIF1B_HUMAN] Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.[1] Defects in KIF1B are the cause of susceptibility to neuroblastoma type 1 (NBLST1) [MIM:256700]. A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Defects in KIF1B are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Function
[KIF1B_HUMAN] Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.[2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
See Also
References
- ↑ Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001 Jun 1;105(5):587-97. PMID:11389829
- ↑ Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr. The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11. PMID:18334619 doi:10.1101/gad.1648608
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