Free PMC article Abstract
Paired-box (PAX) genes encode a family of highly conserved transcription factors found in vertebrates and invertebrates. PAX proteins are defined by the presence of a paired domain that is evolutionarily conserved across phylogenies. Inclusion of a homeodomain and/or an octapeptide linker subdivides PAX proteins into four groups. Often termed "master regulators", PAX proteins orchestrate tissue and organ development throughout cell differentiation and lineage determination, and are essential for tissue structure and function through maintenance of cell identity. Mutations in PAX genes are associated with myriad human diseases (e.g., microphthalmia, anophthalmia, coloboma, hypothyroidism, acute lymphoblastic leukemia). Transcriptional regulation by PAX proteins is, in part, modulated by expression of alternatively spliced transcripts. Herein, we provide a genomics update on the nine human PAX family members and PAX homologs in 16 additional species. We also present a comprehensive summary of human tissue-specific PAX transcript variant expression and describe potential functional significance of PAX isoforms. While the functional roles of PAX proteins in developmental diseases and cancer are well characterized, much remains to be understood regarding the functional roles of PAX isoforms in human health. We anticipate the analysis of tissue-specific PAX transcript variant expression presented herein can serve as a starting point for such research endeavors.
PAX1 (20p11.22) https://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX1&keywords=PAX
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.. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
PAX1 (Paired Box 1) is a Protein Coding gene. Diseases associated with PAX1 include Otofaciocervical Syndrome 2, With T-Cell Deficiency and Otofaciocervical Syndrome 1. An important paralog of this gene is PAX9.
This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity). ( PAX1_HUMAN,P15863 )
PAX2, (10q24.31) ,Paired Box Gene 2 2 FSGS7 3 PAPRS 3
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... . PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PAX2 (Paired Box 2) is a Protein Coding gene. Diseases associated with PAX2 include Papillorenal Syndrome and Focal Segmental Glomerulosclerosis 7. Among its related pathways are Nephrotic syndrome and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription cis-regulatory region binding. An important paralog of this gene is PAX5
Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS. ( PAX2_HUMAN,Q02962 )
- Size:417 amino acids
- Quaternary structure:
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Interacts with ELGN3; the interaction targets PAX2 for destruction. (https://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN3&keywords=ELGN3, Egl Nine Homolog 3 (C. Elegans)
2 HIF Prolyl Hydroxylase 3)
Interacts with TLE4.
PAX3
PAX4
PAX5
PAX6
PAX7
PAX8 (2q14.1),
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This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
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PAX8 is one of nine transcription factors within the PAX gene family. It has been observed to be expressed during embryonic development however expression attenuates after development in all but a few tissues. Research has indicated that over-expression of PAX proteins in general are not an initiating event in tumorgenesis however they may facilitate malignant development. PAX8 is expressed in 80-96% of all High-grade serous carcinomas (HGSC) and is commonly used as a marker for the disease. In addition PAX8 has become a useful biomarker for differentiating between mullerian mucinous and non-mullerian tumors. PAX8 has also been associated with neoplasms in the kidney and thyroid.
PAX8 (Paired Box 8) is a Protein Coding gene. Diseases associated with PAX8 include Hypothyroidism, Congenital, Nongoitrous, 2 and Athyreosis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is PAX2.
Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. ( PAX8_HUMAN,Q06710 )
Protein attributes for PAX8 Gene Size:450 amino acids
- Biochemistry:
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- paired box (DNA binding) containing protein 8,with a truncated homeo domain,expressed in fetal kidney,potential modulator of WT1 expression, in developing central nervous system and regulating thyroglobulin gene transcription (regulation of thyroid cells),also Link: WT-1 gene , WILMS tumor 1, https://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1&keywords=WT1
PAX9
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