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SOX3 SRY-box transcription factor 3 [ Homo sapiens (human) ]

Gene ID: 6658, updated on 18-Aug-2020

Summary

Official Symbol
SOX3provided by HGNC
Official Full Name
SRY-box transcription factor 3provided by HGNC
Primary source
HGNC:HGNC:11199
See related
Ensembl:ENSG00000134595 MIM:313430
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHP; GHDX; MRGH; PHPX; SOXB
Summary
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See SOX3 in Genome Data Viewer
Location:
Xq27.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (140502985..140505069, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (139585152..139587225, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene EED pseudogene 1 Neighboring gene ribosomal protein S17 pseudogene 17 Neighboring gene SOX3 promoter region Neighboring gene uncharacterized LOC105373344 Neighboring gene uncharacterized LOC101928833

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
face development ISS
Inferred from Sequence or Structural Similarity
more info
 
hypothalamus development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pituitary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory organ development ISS
Inferred from Sequence or Structural Similarity
more info
 
sex determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transcription factor SOX-3
Names
SRY (sex determining region Y)-box 3
SRY-box 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009387.1 RefSeqGene

    Range
    5001..7074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005634.3NP_005625.2  transcription factor SOX-3

    See identical proteins and their annotated locations for NP_005625.2

    Status: REVIEWED

    Source sequence(s)
    AL121875
    Consensus CDS
    CCDS14669.1
    UniProtKB/Swiss-Prot
    P41225
    Related
    ENSP00000359567.2, ENST00000370536.4
    Conserved Domains (2) summary
    cd01388
    Location:138209
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam12336
    Location:208302
    SOXp; SOX transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    140502985..140505069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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