SOX13
Transcription factor SOX-13
Also known as: ICA12, MGC117216, Sox-13, SOX13_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UN79
- Gene
- SOX13
- Ensembl
- ENSG00000143842
- Chromosome
- 1
- Canonical length
- 622 aa
- Protein class
- Disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
622 residues, UniProt reviewed canonical sequence.
>Q9UN79|SOX13
1 MSMRSPISAQ LALDGVGTMV NCTIKSEEKK EPCHEAPQGS ATAAEPQPGD PARASQDSAD
61 PQAPAQGNFR GSWDCSSPEG NGSPEPKRPG VSEAASGSQE KLDFNRNLKE VVPAIEKLLS
121 SDWKERFLGR NSMEAKDVKG TQESLAEKEL QLLVMIHQLS TLRDQLLTAH SEQKNMAAML
181 FEKQQQQMEL ARQQQEQIAK QQQQLIQQQH KINLLQQQIQ QVNMPYVMIP AFPPSHQPLP
241 VTPDSQLALP IQPIPCKPVE YPLQLLHSPP APVVKRPGAM ATHHPLQEPS QPLNLTAKPK
301 APELPNTSSS PSLKMSSCVP RPPSHGGPTR DLQSSPPSLP LGFLGEGDAV TKAIQDARQL
361 LHSHSGALDG SPNTPFRKDL ISLDSSPAKE RLEDGCVHPL EEAMLSCDMD GSRHFPESRN
421 SSHIKRPMNA FMVWAKDERR KILQAFPDMH NSSISKILGS RWKSMTNQEK QPYYEEQARL
481 SRQHLEKYPD YKYKPRPKRT CIVEGKRLRV GEYKALMRTR RQDARQSYVI PPQAGQVQMS
541 SSDVLYPRAA GMPLAQPLVE HYVPRSLDPN MPVIVNTCSL REEGEGTDDR HSVADGEMYR
601 YSEDEDSEGE EKSDGELVVL TDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SOX13 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)
- 0.63
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 46 nTPM
- endometrium: 43 nTPM
- adipose tissue: 38 nTPM
- cervix: 37 nTPM
- lung: 35 nTPM
- prostate: 34 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 98 nCPM
- endometrial luminal cells: 85 nCPM
- mast cells: 85 nCPM
- vascular smooth muscle cells: 81 nCPM
- basal prostatic cells: 69 nCPM
- pericytes: 68 nCPM
Immune cell
- NK-cell: 1.6 nTPM
- gdT-cell: 0.8 nTPM
- MAIT T-cell: 0.8 nTPM
- memory CD8 T-cell: 0.5 nTPM
- memory CD4 T-cell: 0.4 nTPM
- naive CD8 T-cell: 0.3 nTPM
Brain region
- midbrain: 44 nTPM
- medulla oblongata: 38 nTPM
- white matter: 34 nTPM
- spinal cord: 32 nTPM
- basal ganglia: 32 nTPM
- thalamus: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SOX13.
Disease | AutoantibodyPubMed
Conditions in which antibodies against SOX13 are reported. Each links to that disease's full target list.
ReferencesPubMed · IEDB
Publications for SOX13 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.
Reference: AutoantibodyPubMed
10 publications
- Prevalence of ICA-12 and other autoantibodies in north Indian patients with early-onset diabetes.
2002 · Ann N Y Acad Sci · RCR 0.5 · 21 citations - Molecular mechanisms involved in the etiopathogenesis of malnutrition-modulated diabetes mellitus.
2002 · Ann N Y Acad Sci · RCR 0.3 · 14 citations - Islet autoimmunity and genetic mutations in Chinese subjects initially thought to have Type 1B diabetes.
2006 · Diabet Med · RCR 0.2 · 9 citations - Autoantibodies to ICA12 (SOX-13) are not specific for Type I diabetes.
2000 · Diabetologia · RCR 0.2 · 9 citations - Antibodies to SOX13 (ICA12) are associated with type 1 diabetes.
2001 · Autoimmunity · RCR 0.2 · 12 citations
Show 5 more
- [Diagnostic role of SOX13 antibody in latent autoimmune diabetes of adults].
2005 · Zhonghua Yi Xue Za Zhi · RCR 0.1 · 3 citations - ICA12 autoantibodies are associated with non-DR3/non-DR4 in patients with latent autoimmune diabetes in adults from northern India.
2002 · Ann N Y Acad Sci · RCR 0.1 · 3 citations - Increased autoantibodies to SOX13 in Swedish patients with type 1 diabetes.
2002 · Ann N Y Acad Sci · RCR 0.1 · 3 citations - Antibodies to new beta cell antigen ICA12 in Latvian diabetes patients.
2002 · Ann N Y Acad Sci · RCR 0 · 1 citations - SOX13 autoantibodies are likely to be a supplementary marker for type 1 diabetes in Korea.
2003 · Ann N Y Acad Sci
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. 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)
- 0.34
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 1.74
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- cell fate commitment
- gamma-delta T cell differentiation
- negative regulation of canonical Wnt signaling pathway
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of brown fat cell differentiation
- positive regulation of gamma-delta T cell differentiation
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- spinal cord oligodendrocyte cell differentiation
Molecular functions
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- identical protein binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SOX13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SOX13 as an antibody target. Whether an autoantibody or antibody against SOX13 could matter depends on whether native SOX13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SOX13 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12.
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