Details for: ANXA8L1

Gene ID: 728113

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: ANXA8L1

Ensembl ID: ENSG00000264230

Description: annexin A8 like 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • respiratory basal cell CL0002633
    CSI 4.63
    rCSI 4.8%
    PRS 98.41
  • respiratory suprabasal cell CL4033048
    CSI 3.13
    rCSI 4.01%
    PRS 98.55
  • intrahepatic cholangiocyte CL0002538
    CSI 2.96
    rCSI 7.11%
    PRS 97.73
  • respiratory hillock cell CL4030023
    CSI 2.52
    rCSI 4.5%
    PRS 98.85
  • pericyte CL0000669
    CSI 2.05
    rCSI 5.46%
    PRS 84.44
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.83
    rCSI 4.45%
    PRS 92.59

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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  • 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 [ANXA8L1](/details-gene/728113), or Annexin A8 Like 1, is a protein-coding gene located on chromosome 10q11.22. As a member of the annexin family, its protein product is characterized by its ability to bind to phospholipids, particularly phosphatidylserine, in a calcium-dependent manner. This core function implicates [ANXA8L1](/details-gene/728113) in cellular processes involving membrane dynamics, such as endosomal transport and organization. Expression data highlights its highly specific and significant role in epithelial cell populations, most notably as a key marker for [respiratory basal cells](/details-cell/CL0002633), the resident stem cells of the airway epithelium. Its discovery and annotation were part of foundational efforts to sequence the human genome and its corresponding cDNAs [Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1038/nature02462). ## Cellular Roles and Expression Landscape The expression profile of [ANXA8L1](/details-gene/728113) suggests a highly specialized role in epithelial biology. **Overall**, the gene shows its most significant expression in progenitor and differentiating cells of the respiratory tract. It is a particularly strong marker for [respiratory basal cells](/details-cell/CL0002633) (CSI: 4.63) and their immediate progeny, [respiratory suprabasal cells](/details-cell/CL4033048) (CSI: 3.13), as well as [respiratory hillock cells](/details-cell/CL4030023) (CSI: 2.52). This strong association with the basal stem cell compartment of the airways points towards a potential function in self-renewal, differentiation, or maintenance of epithelial integrity. This epithelial-centric role is further supported by its significant expression in [intrahepatic cholangiocytes](/details-cell/CL0002538) (CSI: 2.96), the epithelial cells lining the bile ducts. The gene is also expressed in [pericytes](/details-cell/CL0000669) (CSI: 2.05), suggesting a possible secondary role in the microvasculature. While a lower but notable significance is observed in certain neuronal subtypes like [L2/3-6 intratelencephalic projecting glutamatergic neurons](/details-cell/CL4023040) (CSI: 1.83), the predominant expression pattern firmly establishes [ANXA8L1](/details-gene/728113) as a key player in specific epithelial tissues. ## Pathways and Molecular Function The functional annotations of [ANXA8L1](/details-gene/728113) are consistent with its observed cellular expression pattern. Its primary molecular functions include calcium ion binding ([GO:0005509](https://www.ebi.ac.uk/QuickGO/term/GO:0005509)) and, more specifically, calcium-dependent phospholipid binding ([GO:0005544](https://www.ebi.ac.uk/QuickGO/term/GO:0005544)) with a preference for phosphatidylserine ([GO:0001786](https://www.ebi.ac.uk/QuickGO/term/GO:0001786)). These activities are fundamental to its involvement in biological processes such as endosomal transport ([GO:0016197](https://www.ebi.ac.uk/QuickGO/term/GO:0016197)) and endosome organization ([GO:0007032](https://www.ebi.ac.uk/QuickGO/term/GO:0007032)). Located within the cytoplasm ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)) and associated with vesicle membranes ([GO:0012506](https://www.ebi.ac.uk/QuickGO/term/GO:0012506)), the protein is well-positioned to regulate membrane trafficking events. In the context of [respiratory basal cells](/details-cell/CL0002633), this function may be critical for orchestrating the trafficking of signaling receptors or adhesion molecules that govern the balance between stem cell maintenance and differentiation, processes that require extensive membrane remodeling and vesicular activity. ## Research Directions The specific and high-level expression of [ANXA8L1](/details-gene/728113) in epithelial stem and progenitor cells, combined with its role in membrane dynamics, opens several avenues for future investigation, particularly in the context of tissue homeostasis and disease. **Proposed Hypotheses:** 1. **[ANXA8L1](/details-gene/728113) is a critical regulator of respiratory basal cell differentiation.** Given its high expression in [respiratory basal cells](/details-cell/CL0002633) and its involvement in endosomal transport, it may control the fate of these stem cells by modulating the sorting and signaling of key developmental pathway components, such as Notch or Wnt receptors, during asymmetric cell division. 2. **[ANXA8L1](/details-gene/728113) participates in epithelial barrier repair.** Its calcium-dependent phospholipid binding function is characteristic of annexins involved in sensing membrane damage. It is plausible that upon injury to the respiratory or biliary epithelium, local influxes of calcium recruit [ANXA8L1](/details-gene/728113) to the damaged site to initiate membrane resealing and repair processes. **Suggested Experimental Approach:** To test the hypothesis that [ANXA8L1](/details-gene/728113) regulates respiratory basal cell differentiation (Hypothesis 1), a robust experimental model would be the use of primary human bronchial epithelial cells grown in an air-liquid interface (ALI) culture system. Using CRISPR-Cas9 to generate a stable knockout of [ANXA8L1](/details-gene/728113) in these basal cells, one could then monitor the differentiation process over several weeks. A combination of single-cell RNA sequencing (scRNA-seq) and immunofluorescence staining for key lineage markers (e.g., FOXJ1 for ciliated cells, MUC5AC for secretory cells) would reveal any shifts in cell fate or defects in the formation of a fully differentiated mucociliary epithelium. **Therapeutic Potential:** The therapeutic potential of [ANXA8L1](/details-gene/728113) is speculative but intriguing. If it proves essential for the proper regeneration of airway epithelium, its targeted activation could be a strategy to promote healing after acute lung injury, such as that caused by viral infections or toxicant exposure. Conversely, if its dysregulation is implicated in hyperproliferative diseases like lung cancer, it could represent an inhibitory target. As an intracellular protein, it would not be amenable to antibody-based therapies, suggesting that small molecule inhibitors that disrupt its calcium-dependent binding to membranes may be a more viable therapeutic strategy.

Genular Protein ID: 4154876431

Symbol: AXA81_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5VT79 A0A0B4J2D4 B2R939 Q53FY2 Q5VT78 Q96H89

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 4 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 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 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 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: 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

Sequence Information:

  • Length: 327
  • Mass: 36879
  • Checksum: 3AAEE1D7072A9379
  • Sequence:
    • MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA 
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL 
ASRTKNQLRE IMKAYEEDYG SSLEEDIQAD TSGYLERILV CLLQGSRDDV SSFVDPALAL 
QDAQDLYAAG EKIRGTDEMK FITILCTRSA THLLRVFEEY EKIANKSIED SIKSETHGSL 
EEAMLTVVKC TQNLHSYFAE RLYYAMKGAG TRDGTLIRNI VSRSEIDLNL IKCHFKKMYG 
KTLSSMIMED TSGDYKNALL SLVGSDP

Genular Protein ID: 259879815

Symbol: B4DTF2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DTF2

Database IDs:

ARBA 3 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 GO 2 Gene3D 1 GeneTree 1 HGNC 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 2 PaxDb 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164054

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

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 270
  • Mass: 30493
  • Checksum: 8F1AC82ACD1DBB45
  • Sequence:
    • MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA 
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGSR DDVSSFVDPA 
LALQDAQDLY AAGEKIRGTD EMKFITILCT RSATHLLRVF EEYEKIANKS IEDSIKSETH 
GSLEEAMLTV VKCTQNLHSY FAERLYYAMK GAGTRDGTLI RNIVSRSEID LNLIKCHFKK 
MYGKTLSSMI MEDTSGDYKN ALLSLVGSDP