SOX1

Protein identityUniProt · HPA

UniProt accession

O00570

Gene

SOX1

Ensembl

ENSG00000182968

Chromosome

13

Canonical length

391 aa

Protein class

Cancer-related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

391 residues, UniProt reviewed canonical sequence.

>O00570|SOX1
     1  MYSMMMETDL HSPGGAQAPT NLSGPAGAGG GGGGGGGGGG GGGAKANQDR VKRPMNAFMV
    61  WSRGQRRKMA QENPKMHNSE ISKRLGAEWK VMSEAEKRPF IDEAKRLRAL HMKEHPDYKY
   121  RPRRKTKTLL KKDKYSLAGG LLAAGAGGGG AAVAMGVGVG VGAAAVGQRL ESPGGAAGGG
   181  YAHVNGWANG AYPGSVAAAA AAAAMMQEAQ LAYGQHPGAG GAHPHAHPAH PHPHHPHAHP
   241  HNPQPMHRYD MGALQYSPIS NSQGYMSASP SGYGGLPYGA AAAAAAAAGG AHQNSAVAAA
   301  AAAAAASSGA LGALGSLVKS EPSGSPPAPA HSRAPCPGDL REMISMYLPA GEGGDPAAAA
   361  AAAAQSRLHS LPQHYQGAGA GVNGTVPLTH I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX1 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)

0.65

Highest tissue expression

3.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX1.

Disease | AutoantibodyPubMed

Conditions in which antibodies against SOX1 are reported. Each links to that disease's full target list.

• Lung Neoplasms 22
• Paraneoplastic Syndromes, Nervous System 6
• Encephalitis 3
• Hashimoto Disease 3
• Limbic Encephalitis 3

Showing 5 of 9 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for SOX1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.95

gnomAD pLI

0.62

gnomAD missense Z

0.58

DepMap mean gene effect

0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• cellular response to leukemia inhibitory factor
• chromatin organization
• forebrain neuron development
• interneuron migration
• lens morphogenesis in camera-type eye
• negative regulation of transcription by RNA polymerase II
• neuron differentiation
• positive regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription
• regulation of oligodendrocyte differentiation
• ventral spinal cord interneuron specification

Molecular functions

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

Cellular components

• chromatin
• 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

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