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Search results 1 to 54 out of 54 for Slc9a3r2

0.021s
Type Details Score
Gene
Type: gene
Organism: chicken
Publication
First Author: Imai K
Year: 1998
Journal: Gene
Title: Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes.
Volume: 222
Issue: 2
Pages: 287-95
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Forwood JK
Year: 2001
Journal: J Biol Chem
Title: The C-terminal nuclear localization signal of the sex-determining region Y (SRY) high mobility group domain mediates nuclear import through importin beta 1.
Volume: 276
Issue: 49
Pages: 46575-82
Publication
First Author: Anson BJ
Year: 1967
Journal: Arch Otolaryngol
Title: The vestibular system. Anatomic considerations.
Volume: 85
Issue: 5
Pages: 497-514
Publication
First Author: Phillips NB
Year: 2006
Journal: J Mol Biol
Title: SRY and human sex determination: the basic tail of the HMG box functions as a kinetic clamp to augment DNA bending.
Volume: 358
Issue: 1
Pages: 172-92
Publication
First Author: Kellermayer R
Year: 2005
Journal: Diagn Mol Pathol
Title: A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.
Volume: 14
Issue: 3
Pages: 159-63
Publication
First Author: Ogata T
Year: 1995
Journal: Hum Genet
Title: Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.
Volume: 95
Issue: 6
Pages: 607-29
Publication
First Author: Maier EM
Year: 2003
Journal: J Pediatr Endocrinol Metab
Title: True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
Volume: 16
Issue: 4
Pages: 575-80
Protein Domain
Type: Family
Description: This entry represents the testis-determining factor Sry (Sex-determining Region Y). Sry is a transcriptional activator that regulates a genetic switch inmale development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells []. Sry is involved in different aspects of gene regulation including promoter activation or repression and contains a high-mobility-group (HMG) box that recognises DNA by partial intercalation in the minor groove []. It binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'. Sry also facilitates DNA bending and is involved in pre-mRNA splicing. It is also involved in maintenance of motor functions of dopaminergic neurons in the male adult brain. Sry interacts with a number of partners, including CALM, EP300 (modulates Sry DNA-binding activity), HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1 (impaired Sry DNA-binding activity), SLC9A3R2 and WT1. The C-terminal nuclear localization signal in Sry HMG-box domain mediates nuclear import through importin beta 1 [].Defects in Sry can cause gonadal dysgenesis XY female type (GDXY) (OMIM:306100), which is also known as 'XY females' or Swyer syndrome []. Patients suffer rapid and early degeneration of their gonads, which prevents the development secondary sexual characteristics at puberty. Defects in Sry are also found Turner's Syndrome, a disease characterised by gonadal dysgenesis in a 45,X female type []. Defects in Sry can also cause true hermaphroditism (OMIM:235600), genetically heterogeneous condition whre patients have both mature ovarian and mature testicular tissue (46,XX, 46,XY or a mosaic of 46,XX/46,XY) [].
Protein
Organism: Mus musculus/domesticus
Length: 392  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 234  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 233  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 416  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 302  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 300  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 232  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 231  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 395  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 315  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 304  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 232  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 317  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 374  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 303  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 315  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 233  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 143  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 315  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 314  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 314  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 318  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 303  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 318  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 315  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 316  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 232  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 321  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 418  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 399  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 314  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 304  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 299  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 314  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 300  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 420  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 234  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 230  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 231  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 232  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 299  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 321  
Fragment?: true