SOX30

Protein identityUniProt · HPA

UniProt accession

O94993

Gene

SOX30

Ensembl

ENSG00000039600

Chromosome

5

Canonical length

753 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

753 residues, UniProt reviewed canonical sequence.

>O94993|SOX30
     1  MERARPEPPP QPRPLRPAPP PLPVEGTSFW AAAMEPPPSS PTLSAAASAT LASSCGEAVA
    61  SGLQPAVRRL LQVKPEQVLL LPQPQAQNEE AAASSAQARL LQFRPDLRLL QPPTASDGAT
   121  SRPELHPVQP LALHVKAKKQ KLGPSLDQSV GPRGAVETGP RASRVVKLEG PGPALGYFRG
   181  DEKGKLEAEE VMRDSMQGGA GKSPAAIREG VIKTEEPERL LEDCRLGAEP ASNGLVHGSA
   241  EVILAPTSGA FGPHQQDLRI PLTLHTVPPG ARIQFQGAPP SELIRLTKVP LTPVPTKMQS
   301  LLEPSVKIET KDVPLTVLPS DAGIPDTPFS KDRNGHVKRP MNAFMVWARI HRPALAKANP
   361  AANNAEISVQ LGLEWNKLSE EQKKPYYDEA QKIKEKHREE FPGWVYQPRP GKRKRFPLSV
   421  SNVFSGTTQN IISTNPTTVY PYRSPTYSVV IPSLQNPITH PVGETSPAIQ LPTPAVQSPS
   481  PVTLFQPSVS SAAQVAVQDP SLPVYPALPP QRFTGPSQTD THQLHSEATH TVKQPTPVSL
   541  ESANRISSSA STAHARFATS TIQPPREYSS VSPCPRSAPI PQASPIPHPH VYQPPPLGHP
   601  ATLFGTPPRF SFHHPYFLPG PHYFPSSTCP YSRPPFGYGN FPSSMPECLS YYEDRYPKHE
   661  GIFSTLNRDY SFRDYSSECT HSENSRSCEN MNGTSYYNSH SHSGEENLNP VPQLDIGTLE
   721  NVFTAPTSTP SSIQQVNVTD SDEEEEEKVL RDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX30 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

76 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX30.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Male infertility

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

0.78

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of transcription by RNA polymerase II
• negative regulation of Wnt signaling pathway
• positive regulation of transcription by RNA polymerase II
• proacrosomal vesicle fusion
• regulation of transcription by RNA polymerase II
• spermatid development
• response to corticosteroid

Molecular functions

• beta-catenin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• chromocenter
• cytoplasm
• cytosol
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• High mobility group box domain superfamily
• HMG (high mobility group) box
• SOX30 Transcription Factor

KeywordsUniProt

• Activator
• Cytoplasm
• DNA-binding
• Nucleus
• Repressor
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of SOX30 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CTNNB1