Entry - *600381 - KINECTIN; KTN1 - OMIM
 
* 600381

KINECTIN; KTN1


Alternative titles; symbols

CG1 ANTIGEN; CG1


HGNC Approved Gene Symbol: KTN1

Cytogenetic location: 14q22.3   Genomic coordinates (GRCh38) : 14:55,580,207-55,684,584 (from NCBI)


TEXT

Description

Various cellular organelles and vesicles are transported along the microtubules in the cytoplasm. Likewise, membrane recycling of the endoplasmic reticulum (ER), Golgi assembly at the microtubule organizing center, and alignment of lysosomes along microtubules are all related processes. The transport of organelles requires a special class of microtubule-associated proteins (MAPs). One of these is the molecular motor kinesin (see 148760 and 600025), an ATPase that moves vesicles unidirectionally toward the plus end of the microtubule. Another such MAP is kinectin, a large integral ER membrane protein. Antibodies directed against kinectin have been shown to inhibit its binding to kinesin.


Cloning and Expression

Both Futterer et al. (1995) and Yu et al. (1995) cloned the human kinectin cDNA. The predicted open reading frame encodes a 1,364-amino acid protein of 156 kD which contains an N-terminal transmembrane domain and 2 C-terminal leucine zipper motifs.

Print et al. (1994) described the cloning of CG1, a putative 150-kD protein (1,300 amino acids) with an extensive coiled-coil structure similar to the coiled-coil tail of the myosin II family proteins. The cDNA clone was selected using antibodies to a high molecular weight protein identified in peripheral blood leukocytes (PBLs). CG1 transcripts occur at highest levels in testis, ovary, and mitogen-activated PBLs.


Gene Function

Using yeast 2-hybrid analysis, Ong et al. (2003) found that kinectin interacted directly with translation elongation factor-1 (EF1)-delta (EEF1D; 130592). Using peptide fragments, Ong et al. (2003) showed that a 60-amino acid domain near the kinectin C terminus was required for EF1-delta binding. Endogenous kinectin colocalized with EF1-delta in the ER. Expression of the kinectin EF1-delta-binding domain disrupted EF1-delta localization, suggesting that kinectin anchors EF1-delta to the ER membrane.


Mapping

By Southern blot analysis of human/rodent somatic cell hybrid DNAs and fluorescence in situ hybridization, Print et al. (1996) demonstrated that the CG1 gene maps to 14q22. By fluorescence in situ hybridization, Rao et al. (1997) mapped the KTN1 gene to 14q22.1.


Animal Model

Plitz and Pfeffer (2001) generated kinectin-deficient mice by homologous recombination. Ktn1 -/- mice were healthy, viable, and fertile, with no defects in location or trafficking of lysosomes, internalization and clearance of E. coli bacteria in phagosomes by phagocytes, or distribution of mitochondria.


REFERENCES

  1. Futterer, A., Kruppa, G., Kramer, B., Lemke, H., Kronke, M. Molecular cloning and characterization of human kinectin. Molec. Biol. Cell 6: 161-170, 1995. [PubMed: 7787243, related citations] [Full Text]

  2. Ong, L.-L., Er, C. P. N., Ho, A., Aung, M. T., Yu, H. Kinectin anchors the translation elongation factor-1-delta to the endoplasmic reticulum. J. Biol. Chem. 278: 32115-32123, 2003. [PubMed: 12773547, related citations] [Full Text]

  3. Plitz, T., Pfeffer, K. Intact lysosome transport and phagosome function despite kinectin deficiency. Molec. Cell. Biol. 21: 6044-6055, 2001. [PubMed: 11486041, images, related citations] [Full Text]

  4. Print, C. G., Leung, E., Harrison, J. E. B., Watson, J. D., Krissansen, G. W. Cloning of a gene encoding a human leukocyte protein characterised by extensive heptad repeats. Gene 144: 221-228, 1994. [PubMed: 8039706, related citations] [Full Text]

  5. Print, C. G., Morris, C. M., Spurr, N. K., Rooke, L., Krissansen, G. W. The CG-1 gene, a member of the kinectin and ES/130 family, maps to human chromosome band 14q22. Immunogenetics 43: 227-229, 1996. [PubMed: 8575822, related citations] [Full Text]

  6. Rao, P. N., Yu, H., Hodge, R., Pettenati, M. J., Sheetz, M. P. Assignment of the human kinectin gene (KTN1), encoding a kinesin-binding protein, to chromosome 14 band q22.1 by in situ hybridization. Cytogenet. Cell Genet. 79: 196-197, 1997. [PubMed: 9605849, related citations] [Full Text]

  7. Yu, H., Nicchitta, C. V., Kumar, J., Becker, M., Toyoshima, I., Sheetz, M. P. Characterization of kinectin, a kinesin-binding protein: primary sequence and N-terminal topogenic signal analysis. Molec. Biol. Cell 6: 171-183, 1995. [PubMed: 7787244, related citations] [Full Text]


Patricia A. Hartz - updated : 10/08/2008
Paul J. Converse - updated : 5/29/2002
Creation Date:
Victor A. McKusick : 2/8/1995
mgross : 10/08/2008
mgross : 5/29/2002
alopez : 8/25/1999
kayiaros : 7/13/1999
mark : 3/28/1996
terry : 3/20/1996
carol : 2/8/1995

* 600381

KINECTIN; KTN1


Alternative titles; symbols

CG1 ANTIGEN; CG1


HGNC Approved Gene Symbol: KTN1

Cytogenetic location: 14q22.3   Genomic coordinates (GRCh38) : 14:55,580,207-55,684,584 (from NCBI)


TEXT

Description

Various cellular organelles and vesicles are transported along the microtubules in the cytoplasm. Likewise, membrane recycling of the endoplasmic reticulum (ER), Golgi assembly at the microtubule organizing center, and alignment of lysosomes along microtubules are all related processes. The transport of organelles requires a special class of microtubule-associated proteins (MAPs). One of these is the molecular motor kinesin (see 148760 and 600025), an ATPase that moves vesicles unidirectionally toward the plus end of the microtubule. Another such MAP is kinectin, a large integral ER membrane protein. Antibodies directed against kinectin have been shown to inhibit its binding to kinesin.


Cloning and Expression

Both Futterer et al. (1995) and Yu et al. (1995) cloned the human kinectin cDNA. The predicted open reading frame encodes a 1,364-amino acid protein of 156 kD which contains an N-terminal transmembrane domain and 2 C-terminal leucine zipper motifs.

Print et al. (1994) described the cloning of CG1, a putative 150-kD protein (1,300 amino acids) with an extensive coiled-coil structure similar to the coiled-coil tail of the myosin II family proteins. The cDNA clone was selected using antibodies to a high molecular weight protein identified in peripheral blood leukocytes (PBLs). CG1 transcripts occur at highest levels in testis, ovary, and mitogen-activated PBLs.


Gene Function

Using yeast 2-hybrid analysis, Ong et al. (2003) found that kinectin interacted directly with translation elongation factor-1 (EF1)-delta (EEF1D; 130592). Using peptide fragments, Ong et al. (2003) showed that a 60-amino acid domain near the kinectin C terminus was required for EF1-delta binding. Endogenous kinectin colocalized with EF1-delta in the ER. Expression of the kinectin EF1-delta-binding domain disrupted EF1-delta localization, suggesting that kinectin anchors EF1-delta to the ER membrane.


Mapping

By Southern blot analysis of human/rodent somatic cell hybrid DNAs and fluorescence in situ hybridization, Print et al. (1996) demonstrated that the CG1 gene maps to 14q22. By fluorescence in situ hybridization, Rao et al. (1997) mapped the KTN1 gene to 14q22.1.


Animal Model

Plitz and Pfeffer (2001) generated kinectin-deficient mice by homologous recombination. Ktn1 -/- mice were healthy, viable, and fertile, with no defects in location or trafficking of lysosomes, internalization and clearance of E. coli bacteria in phagosomes by phagocytes, or distribution of mitochondria.


REFERENCES

  1. Futterer, A., Kruppa, G., Kramer, B., Lemke, H., Kronke, M. Molecular cloning and characterization of human kinectin. Molec. Biol. Cell 6: 161-170, 1995. [PubMed: 7787243] [Full Text: https://doi.org/10.1091/mbc.6.2.161]

  2. Ong, L.-L., Er, C. P. N., Ho, A., Aung, M. T., Yu, H. Kinectin anchors the translation elongation factor-1-delta to the endoplasmic reticulum. J. Biol. Chem. 278: 32115-32123, 2003. [PubMed: 12773547] [Full Text: https://doi.org/10.1074/jbc.M210917200]

  3. Plitz, T., Pfeffer, K. Intact lysosome transport and phagosome function despite kinectin deficiency. Molec. Cell. Biol. 21: 6044-6055, 2001. [PubMed: 11486041] [Full Text: https://doi.org/10.1128/MCB.21.17.6044-6055.2001]

  4. Print, C. G., Leung, E., Harrison, J. E. B., Watson, J. D., Krissansen, G. W. Cloning of a gene encoding a human leukocyte protein characterised by extensive heptad repeats. Gene 144: 221-228, 1994. [PubMed: 8039706] [Full Text: https://doi.org/10.1016/0378-1119(94)90381-6]

  5. Print, C. G., Morris, C. M., Spurr, N. K., Rooke, L., Krissansen, G. W. The CG-1 gene, a member of the kinectin and ES/130 family, maps to human chromosome band 14q22. Immunogenetics 43: 227-229, 1996. [PubMed: 8575822] [Full Text: https://doi.org/10.1007/BF00587304]

  6. Rao, P. N., Yu, H., Hodge, R., Pettenati, M. J., Sheetz, M. P. Assignment of the human kinectin gene (KTN1), encoding a kinesin-binding protein, to chromosome 14 band q22.1 by in situ hybridization. Cytogenet. Cell Genet. 79: 196-197, 1997. [PubMed: 9605849] [Full Text: https://doi.org/10.1159/000134719]

  7. Yu, H., Nicchitta, C. V., Kumar, J., Becker, M., Toyoshima, I., Sheetz, M. P. Characterization of kinectin, a kinesin-binding protein: primary sequence and N-terminal topogenic signal analysis. Molec. Biol. Cell 6: 171-183, 1995. [PubMed: 7787244] [Full Text: https://doi.org/10.1091/mbc.6.2.171]


Contributors:
Patricia A. Hartz - updated : 10/08/2008
Paul J. Converse - updated : 5/29/2002

Creation Date:
Victor A. McKusick : 2/8/1995

Edit History:
mgross : 10/08/2008
mgross : 5/29/2002
alopez : 8/25/1999
kayiaros : 7/13/1999
mark : 3/28/1996
terry : 3/20/1996
carol : 2/8/1995