The Clinical Proteomic Technologies for Cancer (original) (raw)
SRY (Sex Determining Region Y)-Box 9 Peptide 1
Background
NCI Identification Number:
00077
Antigen Name:
SRY (Sex Determining Region Y)-Box 9 Peptide 1
CPTC Name:
CPTC-SOX9 Peptide 1
Aliases:
CMD1; CMPD1; SRA1; Campomelic Dysplasia, Autosomal Sex-Reversal; SRY (Sex-Determining Region Y)-Box 9 Protein; SRY-Related HMG-Box, Gene 9; Transcription Factor SOX-9
Function:
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates
transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal.
SOX9 (SRY (sex determining region Y)-box 9) is a protein-coding gene. Diseases associated with SOX9 include campomelic dysplasia, and campomelic dysplasia with autosomal sex reversal, and among its related super-pathways are Rho Family GTPases and Wnt signaling pathway. GO annotations related to this gene include protein kinase activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SOX13.
Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.
Chromosomal Localization:
17q23
Accession Number:
NP_000337.1
UniProt Accession Number:
P48436
DNA Source:
The NCI acknowledges the generous advice and gene clones provided by Robert A. Weinberg at the Ludwig Center for Cancer Research of the Massachusetts Institute of Technology. These reagents have been provided by the Division of Cancer Treatment and Diagnosis (DCTD) of the National Cancer Institute (NCI) using funding of the American Recovery and Reinvestment Act of 2009
Immunogen:
Synthetic Peptide
Vector Name:
N/A
Extinction Coefficient:
Buffers:
Expressed Sequence:
cPQENTFPKGEPDLKKESEE
Native Sequence:
Calculated Isoelectric Point:
0
Molecular Weight:
2200
Last Updated:
09/16/2019
Links
- EnsEMBL - EnsEMBL SOX9
- Entrez - Entrez SOX9
- Uniprot - Uniprot P48436
Characterization Data
SOPs
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