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SOX1 SRY-box transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 6656, updated on 20-Jun-2021

Summary

Official Symbol
SOX1provided by HGNC
Official Full Name
SRY-box transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:11189
See related
Ensembl:ENSG00000182968 MIM:602148
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
Summary
This intronless 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 activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See SOX1 in Genome Data Viewer
Location:
13q34
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (112067149..112071706)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (112721463..112726020)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 354 Neighboring gene SOX1 overlapping transcript Neighboring gene peptidyl-prolyl cis-trans isomerase CYP95-like Neighboring gene uncharacterized LOC100506016 Neighboring gene uncharacterized LOC105370370

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in forebrain neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in interneuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lens morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
involved_in ventral spinal cord interneuron specification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
transcription factor SOX-1
Names
SRY (sex determining region Y)-box 1
SRY-box 1
SRY-related HMG-box gene 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_005986.3NP_005977.2  transcription factor SOX-1

    See identical proteins and their annotated locations for NP_005977.2

    Status: REVIEWED

    Source sequence(s)
    AL138691
    Consensus CDS
    CCDS9523.1
    UniProtKB/Swiss-Prot
    O00570
    Related
    ENSP00000330218.1, ENST00000330949.3
    Conserved Domains (1) summary
    cd01388
    Location:50121
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    112067149..112071706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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