Entry - *606406 - NUCLEAR PORE COMPLEX-INTERACTING PROTEIN FAMILY, MEMBER A1; NPIPA1 - OMIM

 
 
* 606406

NUCLEAR PORE COMPLEX-INTERACTING PROTEIN FAMILY, MEMBER A1; NPIPA1


Alternative titles; symbols

NUCLEAR PORE COMPLEX-INTERACTING PROTEIN; NPIP


HGNC Approved Gene Symbol: NPIPA1

Cytogenetic location: 16p13.11   Genomic coordinates (GRCh38) : 16:14,937,443-14,952,056 (from NCBI)


TEXT

▼ Cloning and Expression

Ohno (1970) observed that gene duplication followed by adaptive evolution is a primary force for the emergence of new gene function. Johnson et al. (2001) described such a proliferative event in a 20-kb duplicated segment termed LCR16a (low-copy repeat sequence 'a' from chromosome 16) that occurred after the divergence of humans and African apes from Old World monkeys. Whereas 1 or 2 copies of the segment could be found in baboons, there are 9, 17, 15, and 25 to 30 copies in orangutans, gorillas, humans, and chimpanzees, respectively. Within this segment, Johnson et al. (2001) identified the NPIP gene by genomic sequence analysis and yeast 2-hybrid screening. The deduced 347-amino acid NPIP protein is membrane bound. Immunofluorescence microscopy demonstrated localization of NPIP to the nuclear membrane and colocalization with nucleoporin p62 (NUP62; 605815). Johnson et al. (2001) suggested that the existence of genes that have recently (within the last 30 million years) duplicated and have rapidly evolved may account for 5 to 7% of all human sequences, and they may lack definitive orthologs in the genomes of model organisms.


▼ Gene Structure

By genomic sequence analysis, Johnson et al. (2001) determined that the NPIP gene contains 8 exons.


▼ Mapping

Johnson et al. (2001) mapped the NPIP gene to 16p13.1 by FISH. The localization was confirmed for other hominoid species and extended to chromosomes 7 and 17 in both chimpanzees and bonobos, while in orangutans Npip is found on chromosomes 16 and 13.


▼ REFERENCES

  1. Johnson, M. E., Viggiano, L., Bailey, J. A., Abdul-Rauf, M., Goodwin, G., Rocchi, M., Eichler, E. E. Positive selection of a gene family during the emergence of humans and African apes. Nature 413: 514-519, 2001. [PubMed: 11586358, related citations] [Full Text]

  2. Ohno, S. Evolution by Gene Duplication. Heidelberg: Springer (pub.) 1970.


Creation Date:
Paul J. Converse : 10/19/2001
Edit History:
carol : 08/03/2022
mgross : 10/19/2001

* 606406

NUCLEAR PORE COMPLEX-INTERACTING PROTEIN FAMILY, MEMBER A1; NPIPA1


Alternative titles; symbols

NUCLEAR PORE COMPLEX-INTERACTING PROTEIN; NPIP


HGNC Approved Gene Symbol: NPIPA1

Cytogenetic location: 16p13.11   Genomic coordinates (GRCh38) : 16:14,937,443-14,952,056 (from NCBI)


TEXT

Cloning and Expression

Ohno (1970) observed that gene duplication followed by adaptive evolution is a primary force for the emergence of new gene function. Johnson et al. (2001) described such a proliferative event in a 20-kb duplicated segment termed LCR16a (low-copy repeat sequence 'a' from chromosome 16) that occurred after the divergence of humans and African apes from Old World monkeys. Whereas 1 or 2 copies of the segment could be found in baboons, there are 9, 17, 15, and 25 to 30 copies in orangutans, gorillas, humans, and chimpanzees, respectively. Within this segment, Johnson et al. (2001) identified the NPIP gene by genomic sequence analysis and yeast 2-hybrid screening. The deduced 347-amino acid NPIP protein is membrane bound. Immunofluorescence microscopy demonstrated localization of NPIP to the nuclear membrane and colocalization with nucleoporin p62 (NUP62; 605815). Johnson et al. (2001) suggested that the existence of genes that have recently (within the last 30 million years) duplicated and have rapidly evolved may account for 5 to 7% of all human sequences, and they may lack definitive orthologs in the genomes of model organisms.


Gene Structure

By genomic sequence analysis, Johnson et al. (2001) determined that the NPIP gene contains 8 exons.


Mapping

Johnson et al. (2001) mapped the NPIP gene to 16p13.1 by FISH. The localization was confirmed for other hominoid species and extended to chromosomes 7 and 17 in both chimpanzees and bonobos, while in orangutans Npip is found on chromosomes 16 and 13.


REFERENCES

  1. Johnson, M. E., Viggiano, L., Bailey, J. A., Abdul-Rauf, M., Goodwin, G., Rocchi, M., Eichler, E. E. Positive selection of a gene family during the emergence of humans and African apes. Nature 413: 514-519, 2001. [PubMed: 11586358] [Full Text: https://doi.org/10.1038/35097067]

  2. Ohno, S. Evolution by Gene Duplication. Heidelberg: Springer (pub.) 1970.


Creation Date:
Paul J. Converse : 10/19/2001

Edit History:
carol : 08/03/2022
mgross : 10/19/2001



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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