Details for: SEC14L4

Gene ID: 284904

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: SEC14L4

Ensembl ID: ENSG00000133488

Description: SEC14 like lipid binding 4

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • erythroblast CL0000765
    CSI 8.51
    rCSI 22.59%
    PRS 99.91
  • erythrocyte CL0000232
    CSI 5.82
    rCSI 13.21%
    PRS 99.86
  • lung ciliated cell CL1000271
    CSI 3.94
    rCSI 4.55%
    PRS 99.99
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 2.51
    rCSI 5.72%
    PRS 99.86

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

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  • Node Color (Target Cell CSI, relative to current network):
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    • High
    • Medium
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    • 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 [SEC14L4](/details-gene/284904) (SEC14 like lipid binding 4) is a protein-coding gene located on chromosome 22q12.2. Functionally, it is annotated as a cytoplasmic protein involved in lipid binding ([GO:0008289](https://www.ebi.ac.uk/QuickGO/term/GO:0008289)) and protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)), as described in studies on SEC14p-like proteins ([Link](https://doi.org/10.1016/s0891-5849(03)00173-4)). **Overall** expression analysis reveals a highly specific profile, with the gene's most significant expression observed in cells of the erythroid lineage, particularly [erythroblast](/details-cell/CL0000765)s, and in ciliated cells of the respiratory system. This suggests a specialized role in hematopoiesis and respiratory epithelial cell function. ## Cellular Roles and Expression Landscape The expression profile of [SEC14L4](/details-gene/284904) points towards specialized functions in distinct cellular contexts. * **Erythroid Lineage:** In an **Overall** context, [SEC14L4](/details-gene/284904) shows the highest significance in cells involved in red blood cell formation. It is a top marker for [erythroblast](/details-cell/CL0000765) (CSI: 8.51), the immediate precursors to red blood cells, and remains highly significant in mature [erythrocyte](/details-cell/CL0000232)s (CSI: 5.82). This strong and specific expression pattern strongly suggests a crucial role for [SEC14L4](/details-gene/284904) in the process of erythropoiesis, potentially related to the extensive membrane remodeling and lipid metabolism required during red blood cell development. * **Respiratory System:** A secondary but significant expression signature is observed in ciliated cells of the respiratory tract. The gene shows notable significance in [lung ciliated cell](/details-cell/CL1000271) (CSI: 3.94) and [ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145) (CSI: 2.51). This pattern indicates a potential function in maintaining the structure or function of cilia, which are critical for mucociliary clearance in the airways. The highly specific expression in these hematopoietic and epithelial cell types suggests a specialized function, though its significance in other cell lineages is not prominent in this analysis. ## Pathways and Molecular Function The known molecular functions of [SEC14L4](/details-gene/284904) align well with its observed cellular expression pattern. * **Molecular Function:** [SEC14L4](/details-gene/284904) is localized to the cytoplasm ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)) and is characterized by its lipid-binding capabilities ([GO:0008289](https://www.ebi.ac.uk/QuickGO/term/GO:0008289)). This function is central to the SEC14-like protein family, which is known to participate in the transport and exchange of lipids between membranes. * **Biological Context:** The lipid-binding activity of [SEC14L4](/details-gene/284904) is likely integral to its role in [erythroblast](/details-cell/CL0000765)s, where massive changes in membrane composition and organization occur during differentiation and enucleation. In ciliated cells, lipid trafficking is essential for the maintenance of the unique lipid composition of the ciliary membrane, suggesting that [SEC14L4](/details-gene/284904) may be involved in this specialized transport process. ## Research Directions The specific expression pattern of [SEC14L4](/details-gene/284904) in erythroid and ciliated cells provides a foundation for several testable hypotheses. 1. **Hypothesis 1:** Given its high significance in [erythroblast](/details-cell/CL0000765)s, [SEC14L4](/details-gene/284904) plays an essential role in regulating membrane lipid composition during the terminal stages of erythropoiesis, and its absence leads to defects in red blood cell maturation or membrane integrity. 2. **Hypothesis 2:** [SEC14L4](/details-gene/284904) is required for the proper formation and function of cilia in respiratory epithelial cells by facilitating the transport of specific phospholipids or sterols to the ciliary membrane. * **Key Experimental Approach:** To test the role of [SEC14L4](/details-gene/284904) in erythropoiesis (Hypothesis 1), a CRISPR-Cas9-mediated knockout could be performed in primary human CD34+ hematopoietic stem and progenitor cells. These modified cells would then be differentiated *in vitro* toward the erythroid lineage. The effects of the knockout would be evaluated by assessing the rate of differentiation via flow cytometry for markers such as CD71 and Glycophorin A, analyzing cell morphology for defects, and performing shotgun lipidomics on purified [erythroblast](/details-cell/CL0000765)s to identify specific alterations in membrane lipid content. * **Therapeutic Potential:** Based on current data, [SEC14L4](/details-gene/284904) appears to be involved in normal physiological processes. Its therapeutic potential is therefore speculative but could be relevant in hematological disorders characterized by ineffective erythropoiesis. If its dysregulation is linked to certain anemias, targeted modulation of its lipid-binding activity could represent a novel therapeutic strategy. For example, a small molecule that enhances its function might be beneficial in cases of deficiency, while an inhibitor might be explored if its overexpression contributes to pathology. Its specificity for the erythroid lineage could potentially minimize off-target effects.

Genular Protein ID: 3278359322

Symbol: S14L4_HUMAN

Name: SEC14-like protein 4

UniProtKB Accession Codes:

Q9UDX3 A5D6W7 A6NCV4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EMBL 3 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 2 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12757856

Title: Cloning of novel human SEC14p-like proteins: ligand binding and functional properties.

PubMed ID: 12757856

DOI: 10.1016/s0891-5849(03)00173-4

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 406
  • Mass: 46644
  • Checksum: 7C8763DDA202EB5A
  • Sequence:
    • MSSRVGDLSP QQQEALARFR ENLQDLLPIL PNADDYFLLR WLRARNFDLQ KSEDMLRRHM 
EFRKQQDLDN IVTWQPPEVI QLYDSGGLCG YDYEGCPVYF NIIGSLDPKG LLLSASKQDM 
IRKRIKVCEL LLHECELQTQ KLGRKIEMAL MVFDMEGLSL KHLWKPAVEV YQQFFSILEA 
NYPETLKNLI VIRAPKLFPV AFNLVKSFMS EETRRKIVIL GDNWKQELTK FISPDQLPVE 
FGGTMTDPDG NPKCLTKINY GGEVPKSYYL CEQVRLQYEH TRSVGRGSSL QVENEILFPG 
CVLRWQFASD GGDIGFGVFL KTKMGEQQSA REMTEVLPSQ RYNAHMVPED GSLTCLQAGV 
YVLRFDNTYS RMHAKKLSYT VEVLLPDKAS EETLQSLKAM RPSPTQ

Genular Protein ID: 3450405450

Symbol: B3KRP9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KRP9

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 Gene3D 2 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 PeptideAtlas 1 Pfam 1 RefSeq 2 SMART 1 SUPFAM 2

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 391
  • Mass: 44329
  • Checksum: E27720AB7827A4A1
  • Sequence:
    • MLMTTSSCAG CELETLTCRN PKTCSEGPKS PQPTSCPHAL RAWHMEFRKQ QDLDNIVTWQ 
PPEVIQLYDS GGLCGYDYEG CPVYFNIIGS LDPKGLLLSA SKQDMIRKRI KVCELLLHEC 
ELQTQKLGRK IEMALLVFDM EGLSLKHLWK PAVEVYQQFF SILEANYPET LKNLIVIRAP 
KLFPVAFNLV KSFMSEETRR KIVILGDNWK QELTKFISPD QLPVEFGGTM TDPDGNPKCL 
TKINYGGEVP KSYYLCEQVR LQYEHTRSVG RGSSLQVENE ILFPGCVLRW QFASDGGDIG 
FGVFLKTKMG EQQSAREMTE VLPSQRYNAH MVPEDGSLTC LQAGVYVLRF DNTYSRMYAK 
KLSYTVEVLL PDKASEETLQ SLKAMRPSPT Q