SOX3

Protein identityUniProt · HPA

UniProt accession

P41225

Gene

SOX3

Ensembl

ENSG00000134595

Chromosome

X

Canonical length

446 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

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 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]

Canonical amino-acid sequenceUniProt

446 residues, UniProt reviewed canonical sequence.

>P41225|SOX3
     1  MRPVRENSSG ARSPRVPADL ARSILISLPF PPDSLAHRPP SSAPTESQGL FTVAAPAPGA
    61  PSPPATLAHL LPAPAMYSLL ETELKNPVGT PTQAAGTGGP AAPGGAGKSS ANAAGGANSG
   121  GGSSGGASGG GGGTDQDRVK RPMNAFMVWS RGQRRKMALE NPKMHNSEIS KRLGADWKLL
   181  TDAEKRPFID EAKRLRAVHM KEYPDYKYRP RRKTKTLLKK DKYSLPSGLL PPGAAAAAAA
   241  AAAAAAAASS PVGVGQRLDT YTHVNGWANG AYSLVQEQLG YAQPPSMSSP PPPPALPPMH
   301  RYDMAGLQYS PMMPPGAQSY MNVAAAAAAA SGYGGMAPSA TAAAAAAYGQ QPATAAAAAA
   361  AAAAMSLGPM GSVVKSEPSS PPPAIASHSQ RACLGDLRDM ISMYLPPGGD AADAASPLPG
   421  GRLHGVHQHY QGAGTAVNGT VPLTHI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX3 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)

0.68

Highest tissue expression

8.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX3.

Disease | AllUniProt

Conditions SOX3 is implicated in, by any mechanism.

• Panhypopituitarism X-linked (PHPX) MIM:312000
• Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency (MRXGH) MIM:300123
• 46,XX sex reversal 3 (SRXX3) MIM:300833
• Hypoparathyroidism, X-linked (HYPX) MIM:307700

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 137 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• X-linked intellectual disability with isolated growth hormone deficiency
• Panhypopituitarism, X-linked
• Intellectual disability, X-linked, with panhypopituitarism

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)

0.86

gnomAD pLI

0.45

gnomAD missense Z

2.21

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• central nervous system development
• face development
• hypothalamus development
• negative regulation of neuron differentiation
• negative regulation of transcription by RNA polymerase II
• neuron differentiation
• pituitary gland development
• positive regulation of transcription by RNA polymerase II
• sensory organ development
• sex determination

Molecular functions

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

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• Transcription factor SOX
• High mobility group box domain superfamily
• SRY-related HMG-box transcription factor-like
• HMG (high mobility group) box
• SOX transcription factor

KeywordsUniProt

• Developmental protein
• DNA-binding
• Intellectual disability
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of SOX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FGFR1
• SOX2