KIF1B

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Kinesin 1B

Existing structural data : PDB  2EH0

Properties of human protein
Mass / length primary structure 204 kilodaltons / 1816 amino acids (isoform 1)

199 kilodaltons / 1770 amino acids (isoform 2)
130 kilodaltons / 1153 amino acids (isoform 3)
205 kilodaltons / 1823 amino acids (isoform 4)

Isoforms 4th
Identifier
Gene names KIF1B CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1
External IDs
Orthologue
human House mouse
Entrez 23095 16561
Ensemble ENSG00000054523 ENSMUSG00000063077
UniProt O60333 Q60575
Refseq (mRNA) NM_015074 NM_001290995
Refseq (protein) NP_055889 NP_001277924
Gene locus Chr 1: 10.21 - 10.38 Mb Chr 4: 149.18 - 149.31 Mb
PubMed search 23095 16561

The gene KIF1B encoding the kinesin 1B - a motor protein , the transport of mitochondria to the plus end and precursors of synaptic vesicles microtubules is used and with its isoform 2 and the induction of neuronal apoptosis. Mutations in this gene can lead to Charcot-Marie-Tooth disease type 2A1.

Gene structure and expression

The coding is carried out in KIF1B by 46 exons . The gene lies on the chromosome band 1p36 and thus approx. 1.65 Mb further on the teloma side than the MFN2 gene, whose mutations can lead to Charcot-Marie-Tooth disease type 2A2. KIF1B is expressed in all tissues, especially in differentiated nerve cells.

Protein structure

FHA domain

The kinesin 1B has an N and a C terminus , a 350 amino acid kinesin motor domain at position 5 to 354, an FHA domain at 556 to 612 and a PH domain (PH = pleckstrin homology) at 1702 to 1799. The protein also has four coiled coils , twelve β-sheet structural elements, a helix and a loop at different points.

Interaction with other proteins

KIF1B interacts calcium-dependent by its C -terminal end of its kinesin motor domain having CHP1 . In addition, interactions with the following proteins have been proven or likely:

Individual evidence

  1. ↑ a b M. Nangaku, R. Sato-Yoshitake, Y. Okada, Y. Noda, R. Takemura, H. Yamazaki, N. Hirokawa: KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria. In: Cell. Volume 79, Number 7, December 1994, pp. 1209-1220, PMID 7528108 .
  2. ↑ N. Nakamura, Y. Miyake, M. Matsushita, S. Tanaka, H. Inoue, H. Kanazawa: KIF1Bbeta2, capable of interacting with CHP, is localized to synaptic vesicles. In: Journal of biochemistry. Volume 132, Number 3, September 2002, pp. 483-491, PMID 12204119 .
  3. ↑ S. Schlisio, RS Kenchappa, LCW Vredeveld, RE George R. Stewart, H. Greulich, K. Shahriari, NV Nguyen, P. Pigny, PL Dahia, SL Pomeroy, JM Maris, AT Look, M. Meyerson, DS Peeper, BD Carter, WG Kaelin: The kinesin KIF1B acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. In: Genes & Development. 22, 2008, p. 884, doi : 10.1101 / gad.1648608 .
  4. ↑ C. Zhao, J. Takita, Y. Tanaka, M. Setou, T. Nakagawa, S. Takeda, HW Yang, S. Terada, T. Nakata, Y. Takei, M. Saito, S. Tsuji, Y. Hayashi, N. Hirokawa: Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. In: Cell. Volume 105, Number 5, June 2001, pp. 587-597, PMID 11389829 .
  5. ↑ M. Saito, Y. Hayashi, T. Suzuki, H. Tanaka, I. Hozumi, S. Tsuji: Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. In: Neurology. Volume 49, Number 6, December 1997, pp. 1630-1635, PMID 9409358 .
  6. ↑ TL Gong, M. Burmeister, MI Lomax: The novel gene D4Mil1e maps to mouse chromosome 4 and human chromosome 1p36. In: Mammalian genome: official journal of the International Mammalian Genome Society. Volume 7, Number 10, October 1996, pp. 790-791, PMID 8854876 .
  7. ↑ S. Züchner, IV Mersiyanova, M. Muglia, N. Bissar-Tadmouri, J. Rochelle, EL Dadali, M. Zappia, E. Nelis, A. Patitucci, J. Senderek, Y. Parman, O. Evgrafov, PD Jonghe, Y. Takahashi, S. Tsuji, MA Pericak-Vance, A. Quattrone, E. Battaloglu, AV Polyakov, V. Timmerman, JM Schröder, JM Vance, E. Battologlu: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. In: Nature genetics. Volume 36, Number 5, May 2004, pp. 449-451, doi : 10.1038 / ng1341 , PMID 15064763 .
  8. ↑ Yue Yu, Yu-Mei Feng: The role of kinesin family proteins in tumorigenesis and progression. In: Cancer. 116, 2010, p. 5150, doi : 10.1002 / cncr.25461 .
  9. ^ Daniel Durocher, Stephen P. Jackson: The FHA domain. In: FEBS Letters. 513, 2002, p. 58, doi : 10.1016 / S0014-5793 (01) 03294-X .
  10. ↑ X. Xue, F. Jaulin, C. Espenel, G. Kreitzer: PH-domain-dependent selective transport of p75 by kinesin-3 family motors in non-polarized MDCK cells. In: Journal of Cell Science. 123, 2010, p. 1732, doi : 10.1242 / jcs.056366 .
  11. ↑ a b UniProt O60333