Details for: SKIDA1

Gene ID: 387640

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: SKIDA1

Ensembl ID: ENSG00000180592

Description: SKI/DACH domain containing 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

  • Dna-binding transcription factor activity
    (GO:0003700)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 3.26
    rCSI 3.77%
    PRS 99.89

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [SKIDA1](/details-gene/387640) (*SKI/DACH domain containing 1*) is a protein-coding gene located on human chromosome 10p12.31. Functional annotations suggest that it operates as a [DNA-binding transcription factor](https://www.ebi.ac.uk/QuickGO/term/GO:0003700) involved in the [regulation of transcription by rna polymerase ii](https://www.ebi.ac.uk/QuickGO/term/GO:0006357). Expression data indicates a highly specific role, with its most significant expression observed in [neuroblasts (sensu Nematoda and Protostomia)](/details-cell/CL0000338), suggesting a potential function in neural development. The gene has been identified in large-scale cDNA sequencing and genomic mapping projects [Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1038/nature02462) and its protein product is known to be a target for post-translational modification by SUMOylation [Link](https://doi.org/10.1038/nsmb.3366). ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [SKIDA1](/details-gene/387640) appears to be highly specialized. The currently available data highlights a single cell type with significant expression: [neuroblast (sensu Nematoda and Protostomia)](/details-cell/CL0000338), where it demonstrates a Cell Significance Index (CSI) of 3.26. This strong and specific expression suggests that [SKIDA1](/details-gene/387640) may function as a key marker for this neural progenitor cell type. The absence of significant expression in other cell types within this dataset points towards a tightly regulated and specific role, likely confined to processes related to neurogenesis or the maintenance of a neural progenitor state. The lack of cross-contextual data prevents an assessment of its dynamic regulation in different biological states. ## Pathways and Molecular Function The molecular function of [SKIDA1](/details-gene/387640) is ascribed to its activity as a transcription factor. According to Gene Ontology annotations, it possesses [DNA-binding transcription factor activity](https://www.ebi.ac.uk/QuickGO/term/GO:0003700) and participates in the [regulation of transcription by rna polymerase ii](https://www.ebi.ac.uk/QuickGO/term/GO:0006357). This functional role is consistent with its high significance in [neuroblasts](/details-cell/CL0000338), where precise transcriptional control is essential for managing the balance between self-renewal and differentiation. Its activity is likely modulated by post-translational modifications, as a proteome-wide study identified it as a substrate for SUMOylation [Link](https://doi.org/10.1038/nsmb.3366), a process known to regulate the localization, stability, and activity of many transcription factors. ## Research Directions The specific expression of [SKIDA1](/details-gene/387640) in a neural progenitor cell type, combined with its function as a transcription factor, warrants further investigation into its role in nervous system development and pathology. Based on the available data, several testable hypotheses can be proposed: 1. [SKIDA1](/details-gene/387640) is a critical regulator of neural stem cell fate, where its expression is required to maintain the proliferative, undifferentiated state of neuroblasts. Downregulation of [SKIDA1](/details-gene/387640) may be a prerequisite for terminal neural differentiation. 2. Aberrant expression or mutations in [SKIDA1](/details-gene/387640) may contribute to neurodevelopmental disorders or cancers derived from neural crest cells, such as neuroblastoma, by disrupting normal transcriptional programs and locking cells into a progenitor-like state. To test the first hypothesis regarding its role in neural cell fate, a key experiment would be the CRISPR-Cas9-mediated knockout of [SKIDA1](/details-gene/387640) in a human induced pluripotent stem cell (iPSC) line. These knockout and wild-type iPSCs could then be directed to differentiate towards a neural lineage. Single-cell RNA sequencing at various time points during differentiation would reveal if the loss of [SKIDA1](/details-gene/387640) accelerates or blocks the formation of mature neurons and glia, thereby clarifying its function in maintaining the neuroblast state. Given its highly specific expression profile, [SKIDA1](/details-gene/387640) could represent a potential therapeutic target, particularly in pathologies where its expression is aberrantly maintained, such as certain pediatric brain tumors. If it proves to be a driver of proliferation in these cancers, developing strategies for its inhibition could be a viable therapeutic approach. However, its potential role in normal neurogenesis in early life suggests that any therapeutic intervention would require a very high degree of specificity to avoid severe developmental side effects.

Genular Protein ID: 3590444674

Symbol: SKDA1_HUMAN

Name: SKI/DACH domain-containing protein 1

UniProtKB Accession Codes:

Q1XH10 B1ANA5 E9PAX1 F5H7M0 Q6ZMX4 Q8N3C3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 2 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 5 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 908
  • Mass: 98148
  • Checksum: 6B028EAA32881D2B
  • Sequence:
    • MGDLKSGFEE VDGVRLGYLI IKGKQMFALS QVFTDLLKNI PRTTVHKRMD HLKVKKHHCD 
LEELRKLKAI NSIAFHAAKC TLISREDVEA LYTSCKTERV LKTKRRRVGR ALATKAPPPE 
RAAAASPRPG FWKDKHQLWR GLSGAARPLP ISAQSQRPGA AAARPAAHLP QIFSKYPGSH 
YPEIVRSPCK PPLNYETAPL QGNYVAFPSD PAYFRSLLCS KHPAAAAAAA AAAAAAAAAA 
AAAAYYQVSA AGPQPKAAAG AGGPGSLSYR CKRKRGGAKD CLLAPHAGAR RLLLLPRSYK 
AKAAAAAAAA AAAAAAAAGA TCLERFHLVN GFCPPPHHHH HHHHHHHHHH HRAQPPQQSH 
HPPHHHRPQP HLGSFPESCS SDSESSSYSD HAANDSDFGS SLSSSSNSVS SEEEEEEGEE 
EEEEEEEEGG SGASDSSEVS SEEEDSSTES DSSSGSSQVS VQSIRFRRTS FCKPPSVQAQ 
ANFLYHLASA AAATKPAAFE DAGRLPDLKS SVKAESPAEW NLQSWAPKAS PVYCPASLGS 
CFAEIRNDRV SEITFPHSEI SNAVKRTDLT INCLAEGASS PSPKTNNAFP QQRILREARK 
CLQTTPTTHC ADNNTIAARF LNNDSSGAEA NSEKYSKILH CPEFATDLPS SQTDPEVNAA 
GAAATKAENP CTDTGDKTLP FLHNIKIKVE DSSANEEYEP HLFTNKLKCE CNDTKGEFYS 
VTESKEEDAL LTTAKEGFAC PEKETPSLNP LAQSQGLSCT LGSPKPEDGE YKFGARVRKN 
YRTLVLGKRP VLQTPPVKPN LKSARSPRPT GKTETNEGTL DDFTVINRRK KVASNVASAV 
KRPFHFMANF PCPPSLIIGR DGDLWPAYSL NTTKDSQTPH KAHPIWKWQL GGSAIPLPPS 
HKFRKFNS