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

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; AllianceGenome:HGNC:30635
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: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (157625679..157671480, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (158144714..158190505, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (157052687..157098488, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SOX30 confers a tumor suppressive effect in acute myeloid leukemia through inactivation of Wnt/beta-catenin signaling.
Title: SOX30 confers a tumor suppressive effect in acute myeloid leukemia through inactivation of Wnt/β-catenin signaling.
Correlation of sex-determining region Y-box 30 with tumor characteristics and its prognostic value in breast cancer.
Title: Correlation of sex-determining region Y-box 30 with tumor characteristics and its prognostic value in breast cancer.
SOX30 upregulation due to miR-653-5p inhibition restricted the proliferation and invasion of prostate cancer cells, and this was associated with Wnt/ CTNNB1 signaling suppression.
Title: SOX30, a target gene of miR-653-5p, represses the proliferation and invasion of prostate cancer cells through inhibition of Wnt/β-catenin signaling.
miR-125b was able to bind to the 3'UTR of SOX30 gene and was negatively associated with SOX30. As compared with the reactive hyperplasia lymphatic samples, the higher (miR-125b) and lower (SOX30) rate was expressed positively in the malignant lymphomas, which was related to the stage and grade of malignancy.
Title: Different expressions of miR-125b and SOX30 in malignant lymphomas and their significance.
SOX30 acts as a master switch of desmosomal genes, inhibits lung adenocarcinoma cell proliferation, migration and invasion by activating the transcription of desmosomal genes. This study provides novel insights on the regulatory mechanism of desmosomal genes in lung adenocarcinoma.
Title: SOX30 is a key regulator of desmosomal gene suppressing tumor growth and metastasis in lung adenocarcinoma.
MicroRNA-645 represses hepatocellular carcinoma progression by inhibiting SOX30-mediated p53 transcriptional activation
Title: MicroRNA-645 represses hepatocellular carcinoma progression by inhibiting SOX30-mediated p53 transcriptional activation.
SOX30 displays tumor suppressive behavior, warranting future investigations into its therapeutic potential in the treatment of bladder cancer
Title: Decreased expression of SRY-box containing gene 30 is related to malignant phenotypes of human bladder cancer and correlates with poor prognosis.
In early-stage lung adenocarcinoma patients, elevated SOX30 expression inhibits tumor-metastasis, resulting in a favorable prognosis of these patients.
Title: SOX30 specially prevents Wnt-signaling to suppress metastasis and improve prognosis of lung adenocarcinoma patients.
these results highlight an important role and mechanism of SOX30 in lung cancer metastasis, providing a potential therapeutic target for anti-metastasis.
Title: SOX30 Inhibits Tumor Metastasis through Attenuating Wnt-Signaling via Transcriptional and Posttranslational Regulation of β-Catenin in Lung Cancer.
SOX30 expression represents an important prognostic factor for survival time in lung adenocarcinoma patients.
Title: High expression of SOX30 is associated with favorable survival in human lung adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SOX30_1458 (e-PCR)
- UniSTS:277762

D5S2525 (e-PCR)
- UniSTS:56329

SOX30 (e-PCR)
- UniSTS:504868

D5S2525 (e-PCR)
- UniSTS:36760

RH93130 (e-PCR)
- UniSTS:87722

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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
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
part_of 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
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

NM_001308165.2 → NP_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/TrEMBL

B4DXW7

Related

ENSP00000427984.1, ENST00000519442.1

Conserved Domains (1) summary

cd01388
Location:31 → 101

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 ...
NM_007017.3 → NP_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:336 → 406

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 ...
NM_178424.2 → NP_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, O94995, Q8IYX6

Related

ENSP00000265007.6, ENST00000265007.11

Conserved Domains (1) summary

cd01388
Location:336 → 406

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 ...