Entry - *604637 - NEUREXOPHILIN 4; NXPH4 - OMIM

 
 
* 604637

NEUREXOPHILIN 4; NXPH4


Alternative titles; symbols

NPH4


HGNC Approved Gene Symbol: NXPH4

Cytogenetic location: 12q13.3     Genomic coordinates (GRCh38): 12:57,216,794-57,226,449 (from NCBI)


TEXT

▼ Cloning and Expression

Mammalian neurexophilin was discovered as a 29-kD neuronal glycoprotein that copurifies in a tight complex with neurexin I-alpha (600565) (Petrenko et al., 1996). By searching sequence databases using the amino acid sequence of mammalian neurexophilin as the query, Missler and Sudhof (1998) identified human ESTs corresponding to neurexophilins-1 (NXPH1; 604639), -2 (NXPH2; 604635), -3 (NXPH3; 604636), and -4 (NXPH4). Comparison of the amino acid sequences of human, rat, mouse, and bovine neurexophilins revealed that neurexophilins share a common predicted structure composed of 5 domains: an N-terminal signal peptide, a variable N-terminal domain, a highly conserved central domain that is N-glycosylated, a short linker region, and a conserved C-terminal domain that is cysteine-rich. Northern blot analysis of a variety of human tissues detected NXPH4 expression in brain, spleen, and testis. Missler and Sudhof (1998) concluded that neurexophilins form a family of related glycoproteins that are proteolytically processed after synthesis. They suggested that neurexophilins are signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.


▼ Mapping

Gross (2014) mapped the NXPH4 gene to chromosome 12q13.3 based on an alignment of the NXPH4 sequence (GenBank BC053581) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 10/24/2014.

  2. Missler, M., Sudhof, T. C. Neurexophilins form a conserved family of neuropeptide-like glycoproteins. J. Neurosci. 18: 3630-3638, 1998. [PubMed: 9570794, related citations] [Full Text]

  3. Petrenko, A. G., Ullrich, B., Missler, M., Krasnoperov, V., Rosahl, T. W., Sudhof, T. C. Structure and evolution of neurexophilin. J. Neurosci. 16: 4360-4369, 1996. [PubMed: 8699246, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 10/24/2014
Creation Date:
Patti M. Sherman : 2/29/2000
Edit History:
mgross : 10/24/2014
alopez : 10/24/2014
mgross : 3/2/2000
psherman : 3/1/2000

* 604637

NEUREXOPHILIN 4; NXPH4


Alternative titles; symbols

NPH4


HGNC Approved Gene Symbol: NXPH4

Cytogenetic location: 12q13.3     Genomic coordinates (GRCh38): 12:57,216,794-57,226,449 (from NCBI)


TEXT

Cloning and Expression

Mammalian neurexophilin was discovered as a 29-kD neuronal glycoprotein that copurifies in a tight complex with neurexin I-alpha (600565) (Petrenko et al., 1996). By searching sequence databases using the amino acid sequence of mammalian neurexophilin as the query, Missler and Sudhof (1998) identified human ESTs corresponding to neurexophilins-1 (NXPH1; 604639), -2 (NXPH2; 604635), -3 (NXPH3; 604636), and -4 (NXPH4). Comparison of the amino acid sequences of human, rat, mouse, and bovine neurexophilins revealed that neurexophilins share a common predicted structure composed of 5 domains: an N-terminal signal peptide, a variable N-terminal domain, a highly conserved central domain that is N-glycosylated, a short linker region, and a conserved C-terminal domain that is cysteine-rich. Northern blot analysis of a variety of human tissues detected NXPH4 expression in brain, spleen, and testis. Missler and Sudhof (1998) concluded that neurexophilins form a family of related glycoproteins that are proteolytically processed after synthesis. They suggested that neurexophilins are signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.


Mapping

Gross (2014) mapped the NXPH4 gene to chromosome 12q13.3 based on an alignment of the NXPH4 sequence (GenBank BC053581) with the genomic sequence (GRCh38).

REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 10/24/2014.

  2. Missler, M., Sudhof, T. C. Neurexophilins form a conserved family of neuropeptide-like glycoproteins. J. Neurosci. 18: 3630-3638, 1998. [PubMed: 9570794] [Full Text: https://doi.org/10.1523/JNEUROSCI.18-10-03630.1998]

  3. Petrenko, A. G., Ullrich, B., Missler, M., Krasnoperov, V., Rosahl, T. W., Sudhof, T. C. Structure and evolution of neurexophilin. J. Neurosci. 16: 4360-4369, 1996. [PubMed: 8699246] [Full Text: https://doi.org/10.1523/JNEUROSCI.16-14-04360.1996]


Contributors:
Matthew B. Gross - updated : 10/24/2014

Creation Date:
Patti M. Sherman : 2/29/2000

Edit History:
mgross : 10/24/2014
alopez : 10/24/2014
mgross : 3/2/2000
psherman : 3/1/2000



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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 10, 2024