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Gene Review

KIF1B  -  kinesin family member 1B

Homo sapiens

Synonyms: CMT2, CMT2A, CMT2A1, HMSNII, KIAA0591, ...
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Disease relevance of KIF1B


Psychiatry related information on KIF1B

  • Together with the clinical data, MRCP is a very important technique in the diagnostic and therapeutic decision making of KLP [5].
  • Mean thermal pain thresholds were significantly increased in the feet of the CMT2 patients when compared with the controls and they were significantly higher in the hands of the CMT2 than in the CMT1 patients [6].

High impact information on KIF1B


Chemical compound and disease context of KIF1B

  • Finally, a tri-peptide motif, KLP, which showed homology with laminin 5 (a ligand for alpha3beta1 integrin), was identified as a binding peptide for peritoneal tumors of gastric cancer [8].

Biological context of KIF1B


Anatomical context of KIF1B


Associations of KIF1B with chemical compounds

  • Thus, the triad of inconstant metabolite concentrations, inconstant KLP/KBA, and delta F both inconstant and non-zero, indicates that there is no state of equilibrium for these metabolite couplets in human plasma [17].

Physical interactions of KIF1B

  • CHP binds to regions adjacent to the motor domains of KIF1Bbeta2 and KIF1B, but not to those of the other KIF1 family members, KIF1A and KIF1C [18].

Other interactions of KIF1B

  • The region between the DFF45 and KIF1B genes was defined as homozygous deletion by Southern blotting [19].
  • BACKGROUND: Axonal neuropathy linked to the CMT2A locus was originally associated with a mutation in the KIF1B gene [20].
  • Twenty unrelated CMT2 patients, as well as 26 others with an undetermined form of CMT, also were screened for mutations in NF-L, but no additional mutations were found [11].
  • One patient with a CMT2 clinical phenotype had three myelin protein zero mutations (I89N+V92M+I162M) [21].
  • Eleven Cx32 mutations were found in 12 families, six with a CMT2 diagnosis, three with a CMT1 diagnosis and three with unclassified CMT [22].

Analytical, diagnostic and therapeutic context of KIF1B

  • Despite clinical findings of normal or near-normal strength and small reductions in compound muscle action potential (CMAP) amplitude, MUNE values were significantly lower in CMT2 subjects in proximal muscles, consistent with more diffuse denervation [15].
  • The KLP-containing fraction was identified with the KLP radioimmunoassay [23].
  • Clinical findings are very important data to be considered in the differential diagnosis of KLP [5].
  • Phage clones displaying the sequence KLP showed 64-fold higher binding to peritoneal tumors than control phage and were preferentially distributed in tumors rather than in normal organs after intraperitoneal injection into mice [8].


  1. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H.W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., Hirokawa, N. Cell (2001) [Pubmed]
  2. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Nelis, E., Haites, N., Van Broeckhoven, C. Hum. Mutat. (1999) [Pubmed]
  3. The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. Nagura, M., Nagao, Y., Takita, J., Igarashi, T., LeGuern, E., Hayashi, Y. Int. J. Mol. Med. (2003) [Pubmed]
  4. Mutational study of the 1p located genes p18ink4c, Patched-2, RIZ1 and KIF1B in oligodendrogliomas. Alonso, M.E., Bello, M.J., Arjona, D., Gonzalez-Gomez, P., Amiñoso, C., Lopez-Marín, I., de Campos, J.M., Isla, A., Vaquero, J., Gutierrez, M., Sarasa, J.L., Rey, J.A. Oncol. Rep. (2005) [Pubmed]
  5. Magnetic resonance cholangiopancreatography in cystic lesions of the pancreas. Dani, R., Cundari, A.M., Nogueira, C.E., Reis, G.M., Silva, L.D. Pancreas (2000) [Pubmed]
  6. Analysis of sensory function in Charcot-Marie-Tooth disease. Ericson, U., Borg, K. Acta neurologica Scandinavica. (1999) [Pubmed]
  7. KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria. Nangaku, M., Sato-Yoshitake, R., Okada, Y., Noda, Y., Takemura, R., Yamazaki, H., Hirokawa, N. Cell (1994) [Pubmed]
  8. Identification of oligopeptides binding to peritoneal tumors of gastric cancer. Akita, N., Maruta, F., Seymour, L.W., Kerr, D.J., Parker, A.L., Asai, T., Oku, N., Nakayama, J., Miyagawa, S. Cancer Sci. (2006) [Pubmed]
  9. Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2. Yang, H.W., Chen, Y.Z., Takita, J., Soeda, E., Piao, H.Y., Hayashi, Y. Oncogene (2001) [Pubmed]
  10. Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. Chen, Y.Y., Takita, J., Chen, Y.Z., Yang, H.W., Hanada, R., Yamamoto, K., Hayashi, Y. Int. J. Oncol. (2003) [Pubmed]
  11. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Mersiyanova, I.V., Perepelov, A.V., Polyakov, A.V., Sitnikov, V.F., Dadali, E.L., Oparin, R.B., Petrin, A.N., Evgrafov, O.V. Am. J. Hum. Genet. (2000) [Pubmed]
  12. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Timmerman, V., De Jonghe, P., Spoelders, P., Simokovic, S., Löfgren, A., Nelis, E., Vance, J., Martin, J.J., Van Broeckhoven, C. Neurology (1996) [Pubmed]
  13. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Georgiou, D.M., Zidar, J., Korosec, M., Middleton, L.T., Kyriakides, T., Christodoulou, K. Neurogenetics (2002) [Pubmed]
  14. A novel kinesin-like protein, KIF1Bbeta3 is involved in the movement of lysosomes to the cell periphery in non-neuronal cells. Matsushita, M., Tanaka, S., Nakamura, N., Inoue, H., Kanazawa, H. Traffic (2004) [Pubmed]
  15. Assessment of axonal loss in Charcot-Marie-Tooth neuropathies. Lawson, V.H., Gordon Smith, A., Bromberg, M.B. Exp. Neurol. (2003) [Pubmed]
  16. Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2. Nagai, M., Ichimiya, S., Ozaki, T., Seki, N., Mihara, M., Furuta, S., Ohira, M., Tomioka, N., Nomura, N., Sakiyama, S., Kubo, O., Takakura, K., Hori, T., Nakagawara, A. Int. J. Oncol. (2000) [Pubmed]
  17. Nonequilibrium of two redox couplets in human plasma: lactate-pyruvate and beta-hydroxybutyrate-acetoacetate. Davies, A.O., Samuelson, W.M. Crit. Care Med. (1986) [Pubmed]
  18. KIF1Bbeta2, capable of interacting with CHP, is localized to synaptic vesicles. Nakamura, N., Miyake, Y., Matsushita, M., Tanaka, S., Inoue, H., Kanazawa, H. J. Biochem. (2002) [Pubmed]
  19. Homozygous deletion in a neuroblastoma cell line defined by a high-density STS map spanning human chromosome band 1p36. Chen, Y.Z., Soeda, E., Yang, H.W., Takita, J., Chai, L., Horii, A., Inazawa, J., Ohki, M., Hayashi, Y. Genes Chromosomes Cancer (2001) [Pubmed]
  20. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Lawson, V.H., Graham, B.V., Flanigan, K.M. Neurology (2005) [Pubmed]
  21. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Boerkoel, C.F., Takashima, H., Garcia, C.A., Olney, R.K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A.S., Scavina, M., Williams, L.L., Mancias, P., Butler, I.J., Krajewski, K., Shy, M., Lupski, J.R. Ann. Neurol. (2002) [Pubmed]
  22. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Silander, K., Meretoja, P., Juvonen, V., Ignatius, J., Pihko, H., Saarinen, A., Wallden, T., Herrgård, E., Aula, P., Savontaus, M.L. Hum. Mutat. (1998) [Pubmed]
  23. Rat tissue kallikrein releases a kallidin-like peptide from rat low-molecular-weight kininogen. Hilgenfeldt, U., Stannek, C., Lukasova, M., Schnölzer, M., Lewicka, S. Br. J. Pharmacol. (2005) [Pubmed]
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