Entry - *612497 - TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1 - OMIM

 
 
* 612497

TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1


Alternative titles; symbols

TGFB-INDUCIBLE NUCLEAR PROTEIN 1; TINP1
NSA2, S. CEREVISIAE, HOMOLOG OF; NSA2
HUMAN SEQUENCE SIMILAR TO YEAST 29; HUSSY29


HGNC Approved Gene Symbol: NSA2

Cytogenetic location: 5q13.3   Genomic coordinates (GRCh38) : 5:74,767,249-74,780,113 (from NCBI)


TEXT

▼ Cloning and Expression

By searching EST databases using S. cerevisiae ORFs, followed by screening a skeletal muscle cDNA library, Stanchi et al. (2001) cloned human TINP1, which they called HUSSY29. The deduced 260-amino acid protein shares 62% identity with its yeast ortholog.


▼ Gene Function

TINP1 is the human ortholog of yeast Nsa2, a component of the 60S ribosomal particle. Lebreton et al. (2006) found that deletion of Nsa2 led to defects in ribosome biogenesis due to impaired rRNA maturation, and that human TINP1 complemented the defect.


▼ Mapping

Hartz (2008) mapped the TINP1 gene to chromosome 5q13.3 based on an alignment of the TINP1 sequence (GenBank AF077615) with the genomic sequence (build 36.1).

▼ REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 12/22/2008.

  2. Lebreton, A., Saveanu, C., Decourty, L., Jacquier, A., Fromont-Racine, M. Nsa2 is an unstable, conserved factor required for the maturation of 27 SB pre-rRNAs. J. Biol. Chem. 281: 27099-27108, 2006. [PubMed: 16861225, related citations] [Full Text]

  3. Stanchi, F., Bertocco, E., Toppo, S., Dioguardi, R., Simionati, B., Cannata, N., Zimbello, R., Lanfranchi, G., Valle, G. Characterization of 16 novel human genes showing high similarity to yeast sequences. Yeast 18: 69-80, 2001. [PubMed: 11124703, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 12/22/2008
Edit History:
mgross : 12/22/2008

* 612497

TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1


Alternative titles; symbols

TGFB-INDUCIBLE NUCLEAR PROTEIN 1; TINP1
NSA2, S. CEREVISIAE, HOMOLOG OF; NSA2
HUMAN SEQUENCE SIMILAR TO YEAST 29; HUSSY29


HGNC Approved Gene Symbol: NSA2

Cytogenetic location: 5q13.3   Genomic coordinates (GRCh38) : 5:74,767,249-74,780,113 (from NCBI)


TEXT

Cloning and Expression

By searching EST databases using S. cerevisiae ORFs, followed by screening a skeletal muscle cDNA library, Stanchi et al. (2001) cloned human TINP1, which they called HUSSY29. The deduced 260-amino acid protein shares 62% identity with its yeast ortholog.


Gene Function

TINP1 is the human ortholog of yeast Nsa2, a component of the 60S ribosomal particle. Lebreton et al. (2006) found that deletion of Nsa2 led to defects in ribosome biogenesis due to impaired rRNA maturation, and that human TINP1 complemented the defect.


Mapping

Hartz (2008) mapped the TINP1 gene to chromosome 5q13.3 based on an alignment of the TINP1 sequence (GenBank AF077615) with the genomic sequence (build 36.1).

REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 12/22/2008.

  2. Lebreton, A., Saveanu, C., Decourty, L., Jacquier, A., Fromont-Racine, M. Nsa2 is an unstable, conserved factor required for the maturation of 27 SB pre-rRNAs. J. Biol. Chem. 281: 27099-27108, 2006. [PubMed: 16861225] [Full Text: https://doi.org/10.1074/jbc.M602199200]

  3. Stanchi, F., Bertocco, E., Toppo, S., Dioguardi, R., Simionati, B., Cannata, N., Zimbello, R., Lanfranchi, G., Valle, G. Characterization of 16 novel human genes showing high similarity to yeast sequences. Yeast 18: 69-80, 2001. [PubMed: 11124703] [Full Text: https://doi.org/10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H]


Creation Date:
Patricia A. Hartz : 12/22/2008

Edit History:
mgross : 12/22/2008



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: Nov. 16, 2024