Entry - *465000 - A-KINASE ANCHOR PROTEIN 17A, Y-CHROMOSOMAL; AKAP17A - OMIM

 
 
* 465000

A-KINASE ANCHOR PROTEIN 17A, Y-CHROMOSOMAL; AKAP17A


Alternative titles; symbols

SPLICING FACTOR, ARGININE/SERINE RICH, 17A, Y-CHROMOSOMAL; SFRS17A
PSEUDOAUTOSOMAL GENE XE7, Y-CHROMOSOMAL; XE7Y


HGNC Approved Gene Symbol: AKAP17A

Cytogenetic location: Yp11.2     Genomic coordinates (GRCh38): Y:1,591,604-1,602,520 (from NCBI)


TEXT

▼ Description

AKAP17A is a pseudoautosomal gene that encodes an alternative splicing regulator (Ellison et al. (1992); Mangs et al., 2006).

See 312095 for further information on AKAP17A.

▼ Mapping

Ellison et al. (1992) identified the AKAP17A gene within the Xp-Yp pseudoautosomal region.

Gross (2014) mapped identical copies of the AKAP17A gene to chromosomes Xp22.33 and Yp11.32 based on an alignment of the AKAP17A sequence (GenBank BC028151) with the genomic sequence (GRCh37).

▼ See Also:

▼ REFERENCES

  1. Ellison, J., Passage, M., Yu, L.-C., Yen, P., Mohandas, T. K., Shapiro, L. Directed isolation of human genes that escape X inactivation. Somat. Cell Molec. Genet. 18: 259-268, 1992. [PubMed: 1496421, related citations] [Full Text]

  2. Ellison, J. W., Ramos, C., Yen, P. H., Shapiro, L. J. Structure and expression of the human pseudoautosomal gene XE7. Hum. Molec. Genet. 1: 691-696, 1992. [PubMed: 1302606, related citations]

  3. Gross, M. B. Personal Communication. Baltimore, Md. 5/21/2014.

  4. Mangs, A. H., Speirs, H. J. L., Goy, C., Adams, D. J., Markus, M. A., Morris, B. J. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. Nucleic Acids Res. 34: 49776-4986, 2006.


Contributors:
Matthew B. Gross - updated : 05/05/2016
Creation Date:
Victor A. McKusick : 10/1/1993
Edit History:
mgross : 05/05/2016
carol : 10/31/2008
carol : 5/16/1994
carol : 10/1/1993

* 465000

A-KINASE ANCHOR PROTEIN 17A, Y-CHROMOSOMAL; AKAP17A


Alternative titles; symbols

SPLICING FACTOR, ARGININE/SERINE RICH, 17A, Y-CHROMOSOMAL; SFRS17A
PSEUDOAUTOSOMAL GENE XE7, Y-CHROMOSOMAL; XE7Y


HGNC Approved Gene Symbol: AKAP17A

Cytogenetic location: Yp11.2     Genomic coordinates (GRCh38): Y:1,591,604-1,602,520 (from NCBI)


TEXT

Description

AKAP17A is a pseudoautosomal gene that encodes an alternative splicing regulator (Ellison et al. (1992); Mangs et al., 2006).

See 312095 for further information on AKAP17A.

Mapping

Ellison et al. (1992) identified the AKAP17A gene within the Xp-Yp pseudoautosomal region.

Gross (2014) mapped identical copies of the AKAP17A gene to chromosomes Xp22.33 and Yp11.32 based on an alignment of the AKAP17A sequence (GenBank BC028151) with the genomic sequence (GRCh37).

See Also:

Ellison et al. (1992)

REFERENCES

  1. Ellison, J., Passage, M., Yu, L.-C., Yen, P., Mohandas, T. K., Shapiro, L. Directed isolation of human genes that escape X inactivation. Somat. Cell Molec. Genet. 18: 259-268, 1992. [PubMed: 1496421] [Full Text: https://doi.org/10.1007/BF01233862]

  2. Ellison, J. W., Ramos, C., Yen, P. H., Shapiro, L. J. Structure and expression of the human pseudoautosomal gene XE7. Hum. Molec. Genet. 1: 691-696, 1992. [PubMed: 1302606]

  3. Gross, M. B. Personal Communication. Baltimore, Md. 5/21/2014.

  4. Mangs, A. H., Speirs, H. J. L., Goy, C., Adams, D. J., Markus, M. A., Morris, B. J. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. Nucleic Acids Res. 34: 49776-4986, 2006.


Contributors:
Matthew B. Gross - updated : 05/05/2016

Creation Date:
Victor A. McKusick : 10/1/1993

Edit History:
mgross : 05/05/2016
carol : 10/31/2008
carol : 5/16/1994
carol : 10/1/1993



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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: May 6, 2024