Entry - *617645 - KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 4; KBTBD4 - OMIM

 
 
* 617645

KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 4; KBTBD4


Alternative titles; symbols

HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 252; HSPC252
BKLHD4


HGNC Approved Gene Symbol: KBTBD4

Cytogenetic location: 11p11.2     Genomic coordinates (GRCh38): 11:47,572,197-47,578,970 (from NCBI)


TEXT

▼ Description

KBTBD4 belongs to a family of Kelch repeat- and BTB domain-containing proteins that function as CUL3 (603136)-based E3 ubiquitin ligases for protein ubiquitination (Canning et al., 2013).


▼ Cloning and Expression

By sequencing clones obtained from a CD34 (142230)-positive human hematopoietic stem/progenitor cell cDNA library, Zhang et al. (2000) cloned KBTBD4, which they called HSPC252. The deduced protein contains 323 amino acids.


▼ Gene Structure

Zhang et al. (2000) determined that the KBTBD4 gene contains at least 3 exons.


▼ Mapping

Hartz (2017) mapped the KBTBD4 gene to chromosome 11p11.2 based on an alignment of the KBTBD4 sequence (GenBank AK001312) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Canning, P., Cooper, C. D. O., Krojer, T., Murray, J. W., Pike, A. C. W., Chaikuad, A., Keates, T., Thangaratnarajah, C., Hojzan, V., Ayinampudi, V., Marsden, B. D., Gileadi, O., Knapp, S., von Delft, F., Bullock, A. N. Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases. J. Biol. Chem. 288: 7803-7814, 2013. Note: Erratum: J. Biol. Chem. 288: 28304 only, 2013. [PubMed: 23349464, related citations] [Full Text]

  2. Hartz, P. A. Personal Communication. Baltimore, Md. 08/28/2017.

  3. Zhang, Q.-H., Ye, M., Wu, X.-Y., Ren, S.-X., Zhao, M., Zhao, C.-J., Fu, G., Shen, Y., Fan, H.-Y., Lu, G., Zhong, M., Xu, X.-R., and 9 others. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Genome Res. 10: 1546-1560, 2000. [PubMed: 11042152, images, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 08/28/2017
Edit History:
carol : 07/16/2019
carol : 09/11/2017
alopez : 08/28/2017

* 617645

KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 4; KBTBD4


Alternative titles; symbols

HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 252; HSPC252
BKLHD4


HGNC Approved Gene Symbol: KBTBD4

Cytogenetic location: 11p11.2     Genomic coordinates (GRCh38): 11:47,572,197-47,578,970 (from NCBI)


TEXT

Description

KBTBD4 belongs to a family of Kelch repeat- and BTB domain-containing proteins that function as CUL3 (603136)-based E3 ubiquitin ligases for protein ubiquitination (Canning et al., 2013).


Cloning and Expression

By sequencing clones obtained from a CD34 (142230)-positive human hematopoietic stem/progenitor cell cDNA library, Zhang et al. (2000) cloned KBTBD4, which they called HSPC252. The deduced protein contains 323 amino acids.


Gene Structure

Zhang et al. (2000) determined that the KBTBD4 gene contains at least 3 exons.


Mapping

Hartz (2017) mapped the KBTBD4 gene to chromosome 11p11.2 based on an alignment of the KBTBD4 sequence (GenBank AK001312) with the genomic sequence (GRCh38).

REFERENCES

  1. Canning, P., Cooper, C. D. O., Krojer, T., Murray, J. W., Pike, A. C. W., Chaikuad, A., Keates, T., Thangaratnarajah, C., Hojzan, V., Ayinampudi, V., Marsden, B. D., Gileadi, O., Knapp, S., von Delft, F., Bullock, A. N. Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases. J. Biol. Chem. 288: 7803-7814, 2013. Note: Erratum: J. Biol. Chem. 288: 28304 only, 2013. [PubMed: 23349464] [Full Text: https://doi.org/10.1074/jbc.M112.437996]

  2. Hartz, P. A. Personal Communication. Baltimore, Md. 08/28/2017.

  3. Zhang, Q.-H., Ye, M., Wu, X.-Y., Ren, S.-X., Zhao, M., Zhao, C.-J., Fu, G., Shen, Y., Fan, H.-Y., Lu, G., Zhong, M., Xu, X.-R., and 9 others. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Genome Res. 10: 1546-1560, 2000. [PubMed: 11042152] [Full Text: https://doi.org/10.1101/gr.140200]


Creation Date:
Patricia A. Hartz : 08/28/2017

Edit History:
carol : 07/16/2019
carol : 09/11/2017
alopez : 08/28/2017



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 28, 2024