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SOX30 SRY-box transcription factor 30 [ Homo sapiens (human) ]

Gene ID: 11063, updated on 11-Jun-2021

Summary

Official Symbol
SOX30provided by HGNC
Official Full Name
SRY-box transcription factor 30provided by HGNC
Primary source
HGNC:HGNC:30635
See related
Ensembl:ENSG00000039600 MIM:606698
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 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 acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
Expression
Restricted expression toward testis (RPKM 26.2) See more
Orthologs
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Genomic context

See SOX30 in Genome Data Viewer
Location:
5q33.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (157625679..157671480, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157052687..157098488, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 19 Neighboring gene RNA, U6 small nuclear 390, pseudogene Neighboring gene uncharacterized LOC105377675 Neighboring gene Sharpr-MPRA regulatory region 8057 Neighboring gene chromosome 5 open reading frame 52 Neighboring gene Sharpr-MPRA regulatory region 5199 Neighboring gene SOX30 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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
involved_in negative regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in proacrosomal vesicle fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to corticosteroid IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in chromocenter ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor SOX-30
Names
SRY (sex determining region Y)-box 30
SRY-box 30
Sox30 protein type II

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_001308165.2NP_001295094.1  transcription factor SOX-30 isoform c

    See identical proteins and their annotated locations for NP_001295094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains alternate 5' exon structure, which results in an alternate 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AB022083, AK302162
    Consensus CDS
    CCDS78080.1
    UniProtKB/Swiss-Prot
    O94993
    UniProtKB/TrEMBL
    B4DXW7
    Related
    ENSP00000427984.1, ENST00000519442.1
    Conserved Domains (1) summary
    cd01388
    Location:31101
    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 ...
  2. NM_007017.3NP_008948.1  transcription factor SOX-30 isoform b

    See identical proteins and their annotated locations for NP_008948.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as type II) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AB022441, AC008694, BC033492
    Consensus CDS
    CCDS4340.1
    UniProtKB/Swiss-Prot
    O94993
    Related
    ENSP00000309343.5, ENST00000311371.9
    Conserved Domains (1) summary
    cd01388
    Location:336406
    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 ...
  3. NM_178424.2NP_848511.1  transcription factor SOX-30 isoform a

    See identical proteins and their annotated locations for NP_848511.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as type I) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB022083, AC008694, BC033492
    Consensus CDS
    CCDS4339.1
    UniProtKB/Swiss-Prot
    O94993
    Related
    ENSP00000265007.6, ENST00000265007.11
    Conserved Domains (1) summary
    cd01388
    Location:336406
    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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    157625679..157671480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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