InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIF1B

Summary

InnateDB Protein

IDBP-88896.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KIF1B

Protein Name

kinesin family member 1B

Synonyms

CMT2; CMT2A; CMT2A1; HMSNII; KLP; NBLST1;

Species

Homo sapiens

Ensembl Protein

ENSP00000366297

InnateDB Gene

IDBG-88892 (KIF1B)

Protein Structure

UniProt Annotation

Function

Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. {ECO:0000269PubMed:18334619}.

Subcellular Localization

Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Mitochondrion {ECO:0000269PubMed:16225668}. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons. {ECO:0000250}.

Disease Associations

Charcot-Marie-Tooth disease 2A1 (CMT2A1) [MIM:118210]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:11389829}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuroblastoma 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.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. {ECO:0000269PubMed:18334619}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:10762626, ECO:0000269PubMed:11526494, ECO:0000269PubMed:12888911}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008017	microtubule binding
GO:0016887	ATPase activity
GO:0019894	kinesin binding

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 axon cargo transport
GO:0030705	cytoskeleton-dependent intracellular transport

Cellular Component

GO:0005739	mitochondrion
GO:0005871	kinesin complex
GO:0005874	microtubule
GO:0005875	microtubule associated complex
GO:0030659	cytoplasmic vesicle membrane
GO:0031410	cytoplasmic vesicle
GO:0043005	neuron projection

Protein Structure and Domains

PDB ID

InterPro

IPR000253 Forkhead-associated (FHA) domain
IPR001752 Kinesin, motor domain
IPR008984 SMAD/FHA domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00498
PF00225

PRINTS

PR00380

PIRSF

SMART

SM00240
SM00129

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt