Entry - *609885 - ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3 - OMIM

 
 
* 609885

ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3


HGNC Approved Gene Symbol: ELL3

Cytogenetic location: 15q15.3   Genomic coordinates (GRCh38) : 15:43,772,620-43,776,966 (from NCBI)


TEXT

▼ Cloning and Expression

By EST database searching, Miller et al. (2000) identified sequences showing high homology with the C-terminal sequences of ELL (600284) and ELL2 (601874). Using a PCR-based strategy, they cloned the full-length human cDNA, which they designated ELL3. The deduced approximately 400-amino acid protein shares about 50% sequence identity with ELL and ELL2. Northern blot analysis detected a 2-kb transcript expressed exclusively in testis. Immunofluorescence studies localized ELL3 to the nucleus.


▼ Gene Function

Miller et al. (2000) determined that ELL3, like ELL and ELL2, can increase the catalytic rate of transcription elongation by RNA polymerase II.


▼ Mapping

The International Radiation Hybrid Mapping Consortium mapped the ELL3 gene to chromosome 15 (RH44309).

▼ REFERENCES

  1. Miller, T., Williams, K., Johnstone, R. W., Shilatifard, A. Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3. J. Biol. Chem. 275: 32052-32056, 2000. [PubMed: 10882741, related citations] [Full Text]


Creation Date:
Dorothy S. Reilly : 2/10/2006
Edit History:
carol : 02/10/2006

* 609885

ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3


HGNC Approved Gene Symbol: ELL3

Cytogenetic location: 15q15.3   Genomic coordinates (GRCh38) : 15:43,772,620-43,776,966 (from NCBI)


TEXT

Cloning and Expression

By EST database searching, Miller et al. (2000) identified sequences showing high homology with the C-terminal sequences of ELL (600284) and ELL2 (601874). Using a PCR-based strategy, they cloned the full-length human cDNA, which they designated ELL3. The deduced approximately 400-amino acid protein shares about 50% sequence identity with ELL and ELL2. Northern blot analysis detected a 2-kb transcript expressed exclusively in testis. Immunofluorescence studies localized ELL3 to the nucleus.


Gene Function

Miller et al. (2000) determined that ELL3, like ELL and ELL2, can increase the catalytic rate of transcription elongation by RNA polymerase II.


Mapping

The International Radiation Hybrid Mapping Consortium mapped the ELL3 gene to chromosome 15 (RH44309).

REFERENCES

  1. Miller, T., Williams, K., Johnstone, R. W., Shilatifard, A. Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3. J. Biol. Chem. 275: 32052-32056, 2000. [PubMed: 10882741] [Full Text: https://doi.org/10.1074/jbc.M005175200]


Creation Date:
Dorothy S. Reilly : 2/10/2006

Edit History:
carol : 02/10/2006



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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: Nov. 16, 2024