| Swi/snf-related, Matrix-associated, Actin-dependent Regulator Of Chromatin, Subfamily A-like Protein | OKDB#: 4084 |
| Symbols: | SMARCAL1 | Species: | human | ||
| Synonyms: | HARP, HHARP,SMARCA-LIKE PROTEIN 1|HepA-RELATED PROTEIN, HARP | Locus: | 2q34-q35 in Homo sapiens |
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| General Comment | NCBI Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq] | ||||
| General function | Chromosome organization | ||||
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| Cellular localization | Nuclear | ||||
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| Ovarian localization | Oocyte | ||||
| Comment | Expression of the gene for ancestral glycoprotein hormone beta subunit in the nerve cord of Amphioxus. Tando Y et al. Amphioxus belongs to the subphylum Cephalochordata, a clade of chordates phylogenetically placed at the most basal position. Despite many studies on the endocrine system of amphioxus, there were no confident lines of evidence on the presence of pituitary hormones, whereas recent amphioxus genome analyses reported that amphioxus has no pituitary hormone except for thyrostimulin, which is a glycoprotein hormone in the pituitary, brain, and other organs of vertebrates. In the present study, we cloned cDNA for one glycoprotein hormone beta subunit (GPB) from amphioxus, AmpGPB5, and phylogenetically indicated that AmpGPB5 is the ancestral molecule of glycoprotein hormone beta subunits of vertebrates including pituitary glycoprotein hormones. Synteny analyses showed conservation of chromosomal location of genes near GPB genes from amphioxus through human. The AmpGPB5 gene was expressed in a restricted region of the dorsal part of the nerve cord, glandular atrial cells of gills, and pre-vitellogenic oocytes in amphioxus. However, expression was not detected in the Hatschek's pit which is considered to be a primitive pituitary gland. On the basis of present results, we hypothesize that a portion of vertebrate pituitary hormones might be derived from an ancestral glycoprotein hormone of amphioxus that functions as a neuroendocrine hormone. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | April 29, 2009, 8:36 a.m. | by: |
hsueh email:
home page: |
| last update: | April 29, 2009, 8:37 a.m. | by: | hsueh email: |
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