Entry - *604877 - MAF bZIP TRANSCRIPTION FACTOR F; MAFF - OMIM

 
 
* 604877

MAF bZIP TRANSCRIPTION FACTOR F; MAFF


Alternative titles; symbols

V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN F


HGNC Approved Gene Symbol: MAFF

Cytogenetic location: 22q13.1   Genomic coordinates (GRCh38) : 22:38,201,994-38,216,511 (from NCBI)


TEXT

▼ Cloning and Expression

Inoue et al. (1994) demonstrated that the US-2 element in the promoter of the human oxytocin receptor gene (OXTR; 167055) binds specifically nuclear proteins from human myometrium at parturition. Using the US-2 element in a yeast 1-hybrid system to screen a human myometrium cDNA library, Kimura et al. (1999) isolated a full-length cDNA encoding the homolog of chicken MafF. Human MAFF encodes a deduced 164-amino acid protein with a predicted molecular mass of 17.8 kD. Like other small MAF proteins (e.g., MAFG, 602020), it contains an extended leucine zipper structure and lacks an N-terminal transactivating domain. Northern blot analysis showed a strong 2.6-kb signal in mRNA from term myometrium and from kidney, but not from nonpregnant myometrium. The MAFF protein is also preferentially expressed in term myometrium. The authors concluded that MAFF plays a role in OXTR gene upregulation at term.


▼ Mapping

In their DNA sequence report of human chromosome 22, Dunham et al. (1999) located the MAFF gene on 22q12.2-q13.2.


▼ REFERENCES

  1. Dunham, I., Shimizu, N., Roe, B. A., Chissoe, S., Hunt, A. R., Collins, J. E., Bruskiewich, R., Beare, D. M., Clamp, M., Smink, L. J., Ainscough, R., Almeida, J. P., and 213 others. The DNA sequence of human chromosome 22. Nature 402: 489-495, 1999. Note: Erratum: Nature 404: 904 only, 2000. [PubMed: 10591208, related citations] [Full Text]

  2. Inoue, T., Kimura, T., Azuma, C., Inazawa, J., Takemura, M., Kikuchi, T., Kubota, Y., Ogita, K., Saji, F. Structural organization of the human oxytocin receptor gene. J. Biol. Chem. 269: 32451-32456, 1994. [PubMed: 7798245, related citations]

  3. Kimura, T., Ivell, R., Rust, W., Mizumoto, Y., Ogita, K., Kusui, C., Matsumura, Y., Azuma, C., Murata, Y. Molecular cloning of a human MafF homologue, which specifically binds to the oxytocin receptor gene in term myometrium. Biochem. Biophys. Res. Commun. 264: 86-92, 1999. [PubMed: 10527846, related citations] [Full Text]


Creation Date:
Wilson H. Y. Lo : 4/26/2000
Edit History:
carol : 03/01/2020
alopez : 06/20/2014
terry : 9/7/2012
alopez : 6/6/2002
carol : 4/26/2000

* 604877

MAF bZIP TRANSCRIPTION FACTOR F; MAFF


Alternative titles; symbols

V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN F


HGNC Approved Gene Symbol: MAFF

Cytogenetic location: 22q13.1   Genomic coordinates (GRCh38) : 22:38,201,994-38,216,511 (from NCBI)


TEXT

Cloning and Expression

Inoue et al. (1994) demonstrated that the US-2 element in the promoter of the human oxytocin receptor gene (OXTR; 167055) binds specifically nuclear proteins from human myometrium at parturition. Using the US-2 element in a yeast 1-hybrid system to screen a human myometrium cDNA library, Kimura et al. (1999) isolated a full-length cDNA encoding the homolog of chicken MafF. Human MAFF encodes a deduced 164-amino acid protein with a predicted molecular mass of 17.8 kD. Like other small MAF proteins (e.g., MAFG, 602020), it contains an extended leucine zipper structure and lacks an N-terminal transactivating domain. Northern blot analysis showed a strong 2.6-kb signal in mRNA from term myometrium and from kidney, but not from nonpregnant myometrium. The MAFF protein is also preferentially expressed in term myometrium. The authors concluded that MAFF plays a role in OXTR gene upregulation at term.


Mapping

In their DNA sequence report of human chromosome 22, Dunham et al. (1999) located the MAFF gene on 22q12.2-q13.2.


REFERENCES

  1. Dunham, I., Shimizu, N., Roe, B. A., Chissoe, S., Hunt, A. R., Collins, J. E., Bruskiewich, R., Beare, D. M., Clamp, M., Smink, L. J., Ainscough, R., Almeida, J. P., and 213 others. The DNA sequence of human chromosome 22. Nature 402: 489-495, 1999. Note: Erratum: Nature 404: 904 only, 2000. [PubMed: 10591208] [Full Text: https://doi.org/10.1038/990031]

  2. Inoue, T., Kimura, T., Azuma, C., Inazawa, J., Takemura, M., Kikuchi, T., Kubota, Y., Ogita, K., Saji, F. Structural organization of the human oxytocin receptor gene. J. Biol. Chem. 269: 32451-32456, 1994. [PubMed: 7798245]

  3. Kimura, T., Ivell, R., Rust, W., Mizumoto, Y., Ogita, K., Kusui, C., Matsumura, Y., Azuma, C., Murata, Y. Molecular cloning of a human MafF homologue, which specifically binds to the oxytocin receptor gene in term myometrium. Biochem. Biophys. Res. Commun. 264: 86-92, 1999. [PubMed: 10527846] [Full Text: https://doi.org/10.1006/bbrc.1999.1487]


Creation Date:
Wilson H. Y. Lo : 4/26/2000

Edit History:
carol : 03/01/2020
alopez : 06/20/2014
terry : 9/7/2012
alopez : 6/6/2002
carol : 4/26/2000



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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: Nov. 17, 2024