Description: kinesin family member 1B isoform alpha RefSeq Summary (NM_183416): This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg18 chr1:10,193,351-10,291,242 Size: 97,892 Total Exon Count: 21 Strand: + Coding Region Position: hg18 chr1:10,214,974-10,287,292 Size: 72,319 Coding Exon Count: 20
ID:KIF1B_HUMAN DESCRIPTION: RecName: Full=Kinesin-like protein KIF1B; Short=Klp; FUNCTION: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. SUBUNIT: Interacts (via C-terminus end of the kinesin-motor domain) with CHP1; the interaction occurs in a calcium-dependent manner (By similarity). Interacts with KBP. INTERACTION: Q12959:DLG1; NbExp=4; IntAct=EBI-465669, EBI-357481; Q63622:Dlg2 (xeno); NbExp=3; IntAct=EBI-465669, EBI-396947; P78352:DLG4; NbExp=4; IntAct=EBI-465669, EBI-80389; Q96QZ7:MAGI1; NbExp=3; IntAct=EBI-465669, EBI-924464; SUBCELLULAR LOCATION: Cytoplasmic vesicle (By similarity). Cytoplasm, cytoskeleton (By similarity). Mitochondrion. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons (By similarity). TISSUE SPECIFICITY: Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas. DISEASE: 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. DISEASE: 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. DISEASE: 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. SIMILARITY: Belongs to the kinesin-like protein family. Unc-104 subfamily. SIMILARITY: Contains 1 FHA domain. SIMILARITY: Contains 1 kinesin-motor domain. SIMILARITY: Contains 1 PH domain. SEQUENCE CAUTION: Sequence=AAH01415.1; Type=Erroneous initiation; Sequence=AAP35838.1; Type=Erroneous initiation; Sequence=BAA25517.2; Type=Erroneous initiation; Sequence=BAA95972.2; Type=Erroneous initiation; Sequence=BAB69038.1; Type=Erroneous initiation; WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIF1B";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60333
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006915 apoptotic process GO:0007018 microtubule-based movement GO:0007270 neuron-neuron synaptic transmission GO:0007274 neuromuscular synaptic transmission GO:0008089 anterograde axonal transport GO:0010628 positive regulation of gene expression GO:0010970 transport along microtubule GO:0030705 cytoskeleton-dependent intracellular transport GO:0032418 lysosome localization GO:0047497 mitochondrion transport along microtubule GO:1904647 response to rotenone GO:1990048 anterograde neuronal dense core vesicle transport GO:1990049 retrograde neuronal dense core vesicle transport GO:1990090 cellular response to nerve growth factor stimulus GO:1990778 protein localization to cell periphery
AK308121 - Homo sapiens cDNA, FLJ98069. AY139835 - Homo sapiens kinesin superfamily protein (KIF1B-alpha) mRNA, complete cds. AF257176 - Homo sapiens kinesin superfamily protein KIF1B mRNA, complete cds. AB011163 - Homo sapiens mRNA for KIAA0591 protein, partial cds. AB040881 - Homo sapiens KIAA1448 mRNA for KIAA1448 protein. BC115395 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone MGC:134844 IMAGE:40067993), complete cds. AB017133 - Homo sapiens KIAA0591/KIF1Bbeta mRNA, complete cds. AY043362 - Homo sapiens kinesin superfamily protein 1B (KIF1B) mRNA, complete cds. AB384601 - Synthetic construct DNA, clone: pF1KA1448, Homo sapiens KIF1B gene for kinesin family member 1B, complete cds, without stop codon, in Flexi system. AB384504 - Synthetic construct DNA, clone: pF1KA0591, Homo sapiens KIF1B gene for kinesin family member 1B, complete cds, without stop codon, in Flexi system. AB088210 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform I, complete cds. AB088211 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform II, complete cds. AB088212 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform III, complete cds. AB088213 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform IV, complete cds. LP895698 - Sequence 562 from Patent EP3253886. JD210303 - Sequence 191327 from Patent EP1572962. JD199364 - Sequence 180388 from Patent EP1572962. AK023184 - Homo sapiens cDNA FLJ13122 fis, clone NT2RP3002688. BC028114 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone IMAGE:4511093), partial cds. BC073883 - Homo sapiens cDNA clone IMAGE:3457658, partial cds. BC094856 - Homo sapiens cDNA clone IMAGE:6573324. BC063684 - Homo sapiens cDNA clone IMAGE:4395035, partial cds. BC040017 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone IMAGE:5559263), partial cds. JD025297 - Sequence 6321 from Patent EP1572962. JD036020 - Sequence 17044 from Patent EP1572962.
US Server
