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Identification
HMDB Protein ID HMDBP13575
Secondary Accession Numbers None
Name Paired box protein Pax-4
Synonyms Not Available
Gene Name PAX4
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
organ morphogenesis
anatomical structure development
endocrine pancreas development
regulation of transcription from RNA polymerase II promoter
cell differentiation
Cellular Component
nucleoplasm
chromatin
Molecular Function
DNA-binding transcription factor activity, RNA polymerase II-specific
RNA polymerase II core promoter proximal region sequence-specific DNA binding
sequence-specific double-stranded DNA binding
DNA binding
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues Not Available
Molecular Weight 37832.295
Theoretical pI Not Available
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID O43316
UniProtKB/Swiss-Prot Entry Name PAX4_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
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  2. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed:12853948 ]
  3. Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M: Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4. Biochem Biophys Res Commun. 1998 Jan 6;242(1):176-80. doi: 10.1006/bbrc.1997.7935. [PubMed:9439631 ]
  4. Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA: Isolation and characterization of the human PAX4 gene. Diabetes. 1998 Oct;47(10):1650-3. doi: 10.2337/diabetes.47.10.1650. [PubMed:9753306 ]
  5. Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K: Expression of dominant negative form of PAX4 in human insulinoma. Biochem Biophys Res Commun. 2001 Mar 23;282(1):34-40. doi: 10.1006/bbrc.2001.4552. [PubMed:11263967 ]
  6. Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K: A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. Diabetes. 2001 Dec;50(12):2864-9. doi: 10.2337/diabetes.50.12.2864. [PubMed:11723072 ]
  7. Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C: PAX4 gene variations predispose to ketosis-prone diabetes. Hum Mol Genet. 2004 Dec 15;13(24):3151-9. doi: 10.1093/hmg/ddh341. Epub 2004 Oct 27. [PubMed:15509590 ]
  8. Biason-Lauber A, Boehm B, Lang-Muritano M, Gauthier BR, Brun T, Wollheim CB, Schoenle EJ: Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia. 2005 May;48(5):900-5. doi: 10.1007/s00125-005-1723-5. Epub 2005 Apr 15. [PubMed:15834548 ]
  9. Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N: PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab. 2007 Jul;92(7):2821-6. doi: 10.1210/jc.2006-1927. Epub 2007 Apr 10. [PubMed:17426099 ]