Details for: CAB39L

Gene ID: 81617

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: CAB39L

Ensembl ID: ENSG00000102547

Description: calcium binding protein 39 like

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • choroid plexus epithelial cell CL0000706
    CSI 21.19
    rCSI 34.7%
    PRS 75.7
  • progenitor cell CL0011026
    CSI 15.77
    rCSI 33.53%
    PRS 78.89
  • cardiac neuron CL0010022
    CSI 8.73
    rCSI 27.95%
    PRS 82.73
  • chondrocyte CL0000138
    CSI 8.49
    rCSI 13.5%
    PRS 78.77
  • enteroglial cell CL4040002
    CSI 7.24
    rCSI 38.05%
    PRS 85.59
  • alveolar type 1 fibroblast cell CL4028004
    CSI 5.77
    rCSI 6.32%
    PRS 86.57
  • fibroblast of lung CL0002553
    CSI 5.32
    rCSI 4.95%
    PRS 85.85
  • retinal rod cell CL0000604
    CSI 4.62
    rCSI 8.15%
    PRS 80.47
  • kidney connecting tubule epithelial cell CL1000768
    CSI 4
    rCSI 10.15%
    PRS 76.69
  • retinal bipolar neuron CL0000748
    CSI 3.91
    rCSI 7.32%
    PRS 74.59
  • Mueller cell CL0000636
    CSI 3.9
    rCSI 8.9%
    PRS 77.1
  • retinal cone cell CL0000573
    CSI 3.76
    rCSI 6.06%
    PRS 75.96
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 3.66
    rCSI 6.64%
    PRS 77.06
  • alveolar adventitial fibroblast CL4028006
    CSI 3.49
    rCSI 5.51%
    PRS 86.03
  • interneuron CL0000099
    CSI 3.45
    rCSI 6.92%
    PRS 76.72
  • melanocyte CL0000148
    CSI 3.34
    rCSI 2.47%
    PRS 79.46
  • Schwann cell CL0002573
    CSI 3.26
    rCSI 9.27%
    PRS 80.71
  • ionocyte CL0005006
    CSI 3.15
    rCSI 3.38%
    PRS 86.85
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 3.14
    rCSI 7.5%
    PRS 72.58
  • bronchus fibroblast of lung CL2000093
    CSI 2.94
    rCSI 2.39%
    PRS 84.21
  • secretory cell CL0000151
    CSI 2.91
    rCSI 3.04%
    PRS 84.25
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.79
    rCSI 3.6%
    PRS 69.94
  • GABAergic neuron CL0000617
    CSI 2.69
    rCSI 9.03%
    PRS 69.6
  • vascular leptomeningeal cell CL4023051
    CSI 2.65
    rCSI 4.65%
    PRS 79.64
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.49
    rCSI 3.09%
    PRS 66.67
  • neural crest cell CL0011012
    CSI 2.48
    rCSI 1.96%
    PRS 75.53
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.45
    rCSI 3.47%
    PRS 82.18
  • hepatic stellate cell CL0000632
    CSI 2.44
    rCSI 9.15%
    PRS 78.45
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.4
    rCSI 5.38%
    PRS 69.64
  • inhibitory interneuron CL0000498
    CSI 2.37
    rCSI 5.47%
    PRS 73.94
  • adipocyte CL0000136
    CSI 2.37
    rCSI 3.04%
    PRS 75.7
  • adventitial cell CL0002503
    CSI 2.33
    rCSI 5.57%
    PRS 87.92
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 2.33
    rCSI 6.02%
    PRS 81.08
  • duct epithelial cell CL0000068
    CSI 2.3
    rCSI 3.37%
    PRS 89.15
  • endocardial cell CL0002350
    CSI 2.26
    rCSI 10.84%
    PRS 80.93
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 2.23
    rCSI 6.57%
    PRS 85.59
  • renal alpha-intercalated cell CL0005011
    CSI 2.19
    rCSI 2.93%
    PRS 89.86
  • cerebral cortex endothelial cell CL1001602
    CSI 2.16
    rCSI 3.74%
    PRS 77.54
  • pulmonary ionocyte CL0017000
    CSI 2.1
    rCSI 2.56%
    PRS 90.14
  • ependymal cell CL0000065
    CSI 2.09
    rCSI 4.23%
    PRS 65.13
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.05
    rCSI 2.45%
    PRS 68.85
  • conjunctival epithelial cell CL1000432
    CSI 2
    rCSI 3.06%
    PRS 84.8
  • epithelial cell CL0000066
    CSI 1.98
    rCSI 3.04%
    PRS 73.63
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 1.95
    rCSI 7.37%
    PRS 69.07
  • luminal cell of prostate epithelium CL0002340
    CSI 1.94
    rCSI 10.45%
    PRS 90.85
  • Bergmann glial cell CL0000644
    CSI 1.93
    rCSI 2.64%
    PRS 76.44
  • retinal ganglion cell CL0000740
    CSI 1.93
    rCSI 4.26%
    PRS 72.06
  • glioblast CL0000030
    CSI 1.84
    rCSI 2.94%
    PRS 76.82
  • acinar cell CL0000622
    CSI 1.82
    rCSI 2.67%
    PRS 92.42
  • renal beta-intercalated cell CL0002201
    CSI 1.79
    rCSI 4.26%
    PRS 84.77
  • corneal epithelial cell CL0000575
    CSI 1.78
    rCSI 5.09%
    PRS 89.05
  • macroglial cell CL0000126
    CSI 1.73
    rCSI 4.45%
    PRS 81.17
  • keratocyte CL0002363
    CSI 1.63
    rCSI 3.92%
    PRS 86.85
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.61
    rCSI 2.71%
    PRS 68.7
  • stem cell CL0000034
    CSI 1.59
    rCSI 1.54%
    PRS 79.63
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.58
    rCSI 2.78%
    PRS 88.84
  • lung secretory cell CL1000272
    CSI 1.57
    rCSI 3.88%
    PRS 85.38
  • cardiac muscle cell CL0000746
    CSI 1.52
    rCSI 2.18%
    PRS 75.63
  • renal interstitial pericyte CL1001318
    CSI 1.5
    rCSI 4.13%
    PRS 80.85
  • renal principal cell CL0005009
    CSI 1.48
    rCSI 3.84%
    PRS 84.56
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.46
    rCSI 2.35%
    PRS 70.1
  • ON parasol ganglion cell CL4033052
    CSI 1.43
    rCSI 20.29%
    PRS 76.48
  • stromal cell CL0000499
    CSI 1.42
    rCSI 3.99%
    PRS 80.17
  • regular atrial cardiac myocyte CL0002129
    CSI 1.41
    rCSI 4.55%
    PRS 81.57
  • squamous epithelial cell CL0000076
    CSI 1.39
    rCSI 3.31%
    PRS 83.82
  • dopaminergic neuron CL0000700
    CSI 1.37
    rCSI 7.73%
    PRS 71.98
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.35
    rCSI 3.27%
    PRS 66.58
  • placental villous trophoblast CL2000060
    CSI 1.33
    rCSI 2.06%
    PRS 83.72
  • neural progenitor cell CL0011020
    CSI 1.3
    rCSI 5.72%
    PRS 73.57
  • amacrine cell CL0000561
    CSI 1.26
    rCSI 3.66%
    PRS 75.14
  • microcirculation associated smooth muscle cell CL0008035
    CSI 1.25
    rCSI 3.63%
    PRS 84
  • direct pathway medium spiny neuron CL4023026
    CSI 1.18
    rCSI 28.24%
    PRS 66.61
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.09
    rCSI 3.94%
    PRS 66.69
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.09
    rCSI 3.57%
    PRS 71.42
  • fibroblast of cardiac tissue CL0002548
    CSI 1.06
    rCSI 5.09%
    PRS 85.05
  • indirect pathway medium spiny neuron CL4023029
    CSI 1.06
    rCSI 25.5%
    PRS 67.07
  • parietal epithelial cell CL1000452
    CSI 1.04
    rCSI 2.78%
    PRS 77.8
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1
    rCSI 1.76%
    PRS 68.25
  • L6b glutamatergic cortical neuron CL4023038
    CSI 0.87
    rCSI 2.71%
    PRS 70.23
  • serotonergic neuron CL0000850
    CSI 0.86
    rCSI 3.85%
    PRS 69.29
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.86
    rCSI 2.69%
    PRS 72.38
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.86
    rCSI 5.07%
    PRS 69.23
  • non-myelinating Schwann cell CL0002376
    CSI 0.8
    rCSI 19.86%
    PRS 79.01
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.41
    rCSI 2.53%
    PRS 77.49
  • central nervous system neuron CL2000029
    CSI 0.35
    rCSI 2.58%
    PRS 73.76

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 [CAB39L](/details-gene/81617) (Calcium Binding Protein 39 Like) is a protein-coding gene located on chromosome 13q14.2 [Link](https://doi.org/10.1038/nature02379). It encodes a protein that functions as a protein serine/threonine kinase activator, primarily known for its role in the LKB1-AMPK-mTOR signaling pathway, a central hub for regulating cellular energy homeostasis and growth. **Overall**, expression data indicates that [CAB39L](/details-gene/81617) is a significant gene in a variety of highly specialized cell types, showing a particularly high cell significance index (CSI) in [choroid plexus epithelial cell](/details-cell/CL0000706)s, [progenitor cell](/details-cell/CL0011026)s, and various neuronal and fibroblast populations. This expression pattern, combined with its molecular function, suggests a critical role in maintaining the metabolic activity and signal transduction integrity of these specialized cells. ## Cellular Roles and Expression Landscape The expression profile of [CAB39L](/details-gene/81617) points to its importance in diverse, functionally distinct cell populations rather than being a marker for a single lineage. * **Central Nervous System and Sensory Organs:** The gene's most prominent expression is in the [choroid plexus epithelial cell](/details-cell/CL0000706) (CSI: 21.19), a cell type responsible for producing cerebrospinal fluid and maintaining the blood-CSF barrier. This suggests a key role for [CAB39L](/details-gene/81617) in the high metabolic and transport activities of these cells. Significant expression is also observed in multiple retinal cell types, including [retinal rod cell](/details-cell/CL0000604), [retinal bipolar neuron](/details-cell/CL0000748), [Mueller cell](/details-cell/CL0000636), and [retinal cone cell](/details-cell/CL0000573), as well as other neuronal types like [cardiac neuron](/details-cell/CL0010022) and [interneuron](/details-cell/CL0000099). This pattern highlights a potential role in neuronal function and homeostasis. * **Progenitor and Mesenchymal Cells:** [CAB39L](/details-gene/81617) shows high significance in [progenitor cell](/details-cell/CL0011026)s (CSI: 15.77) and [differentiation-committed oligodendrocyte precursor](/details-cell/CL4023059)s, consistent with its involvement in the mTOR pathway which regulates cell growth and differentiation. Furthermore, its expression in [chondrocyte](/details-cell/CL0000138)s and multiple lung fibroblast subtypes ([alveolar type 1 fibroblast cell](/details-cell/CL4028004), [fibroblast of lung](/details-cell/CL0002553), [alveolar adventitial fibroblast](/details-cell/CL4028006)) suggests a role in connective tissue biology and maintenance. * **Specialized Epithelial and Glial Cells:** Beyond the choroid plexus, the gene is also significant in [kidney connecting tubule epithelial cell](/details-cell/CL1000768)s and [enteroglial cell](/details-cell/CL4040002)s, reinforcing its association with cells involved in transport, secretion, and metabolic support. ## Pathways and Molecular Function Functional annotation reveals that [CAB39L](/details-gene/81617) is a cytoplasmic protein that acts as a key component of intracellular signaling cascades. * **Molecular Function:** [CAB39L](/details-gene/81617) is primarily characterized by its [protein serine/threonine kinase activator activity](/details-cell/GO:0043539). It forms a heterotrimeric complex with the tumor suppressor kinase LKB1 and STRAD, which is essential for the activation of LKB1 and subsequent phosphorylation of AMP-activated protein kinase (AMPK). This function places it at a critical upstream node in metabolic signaling. * **Biological Pathways:** Consistent with its molecular function, [CAB39L](/details-gene/81617) is an integral part of the [Energy dependent regulation of mtor by lkb1-ampk](/details-pathway/R-HSA-380972) pathway. By activating LKB1/AMPK, [CAB39L](/details-gene/81617) contributes to the inhibition of the [Mtor signalling](/details-pathway/R-HSA-165159) complex (mTORC1) under conditions of low cellular energy. This regulation is vital for controlling protein synthesis, cell growth, and autophagy, which aligns with its high expression in metabolically active cells and progenitor populations. ## Research Directions The role of [CAB39L](/details-gene/81617) as a core component of the LKB1-AMPK-mTOR axis, combined with its specific expression patterns and implication in pathology, suggests several avenues for future research. **Proposed Hypotheses:** 1. Given its exceptionally high CSI in [choroid plexus epithelial cell](/details-cell/CL0000706)s, [CAB39L](/details-gene/81617) is likely indispensable for maintaining the metabolic integrity and secretory function of the choroid plexus. Its disruption could impair cerebrospinal fluid production and compromise the blood-CSF barrier. 2. The high significance of [CAB39L](/details-gene/81617) in various neuronal populations, particularly in the retina, suggests it plays a neuroprotective role by helping these high-energy-demand cells adapt to metabolic stress via AMPK activation. 3. Based on its identification as an immunogenic antigen in acute monocytic leukemia [Link](https://doi.org/10.1016/j.leukres.2004.09.013), dysregulation or mutation of [CAB39L](/details-gene/81617) may contribute to tumorigenesis by altering LKB1-AMPK signaling, thereby promoting uncontrolled cell growth characteristic of cancer. **Experimental Approach:** To test the first hypothesis regarding its role in the choroid plexus, a conditional knockout mouse model could be generated to specifically delete [CAB39L](/details-gene/81617) in choroid plexus epithelial cells. Researchers could then assess key physiological parameters, including intracranial pressure, CSF composition, and the integrity of the blood-CSF barrier using fluorescent tracers. Furthermore, isolated choroid plexus tissue from these mice could be subjected to RNA-sequencing and metabolomics to directly measure the impact of [CAB39L](/details-gene/81617) loss on gene expression programs and metabolic pathways related to ion transport and energy homeostasis. **Therapeutic Potential:** As a key regulator of the LKB1-AMPK-mTOR pathway, which is frequently dysregulated in cancer, [CAB39L](/details-gene/81617) represents a potential therapeutic target. Inhibition of [CAB39L](/details-gene/81617) could be a strategy to destabilize the LKB1 complex, potentially sensitizing cancer cells with specific metabolic vulnerabilities. The report of its immunogenicity in leukemia also suggests it could be a target for cancer vaccines or T-cell based immunotherapies [Link](https://doi.org/10.1016/j.leukres.2004.09.013). However, its significant expression in vital tissues like the brain, retina, and kidney indicates that systemic targeting would require careful evaluation to avoid on-target, off-tumor toxicities.

Genular Protein ID: 132939552

Symbol: CB39L_HUMAN

Name: Calcium-binding protein 39-like

UniProtKB Accession Codes:

Q9H9S4 Q5TAW6 Q6WG71 Q96FG1 Q9BZ33

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 5 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 12 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15755502

Title: Serological identification of immunogenic antigens in acute monocytic leukemia.

PubMed ID: 15755502

DOI: 10.1016/j.leukres.2004.09.013

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 337
  • Mass: 39088
  • Checksum: 5C6C7A83B9B4CA2D
  • Sequence:
    • MKKMPLFSKS HKNPAEIVKI LKDNLAILEK QDKKTDKASE EVSKSLQAMK EILCGTNEKE 
PPTEAVAQLA QELYSSGLLV TLIADLQLID FEGKKDVTQI FNNILRRQIG TRSPTVEYIS 
AHPHILFMLL KGYEAPQIAL RCGIMLRECI RHEPLAKIIL FSNQFRDFFK YVELSTFDIA 
SDAFATFKDL LTRHKVLVAD FLEQNYDTIF EDYEKLLQSE NYVTKRQSLK LLGELILDRH 
NFAIMTKYIS KPENLKLMMN LLRDKSPNIQ FEAFHVFKVF VASPHKTQPI VEILLKNQPK 
LIEFLSSFQK ERTDDEQFAD EKNYLIKQIR DLKKTAP

Genular Protein ID: 3621412266

Symbol: Q86WE6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86WE6

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 NCBI Taxonomy 1 OrthoDB 1 PhylomeDB 1 RefSeq 4 SAM 1

Citations:

PubMed ID: 12601173

Title: Immunomic analysis of human sarcoma.

PubMed ID: 12601173

DOI: 10.1073/pnas.0437972100

Sequence Information:

  • Length: 74
  • Mass: 8145
  • Checksum: 1471414025FC26B2
  • Sequence:
    • RGSRGRHHWS GGAAVSSGYP SNIEKKEYQE QSVLSCCSER KDANPKSVVC SFFMQEQCTK 
GEKQAVVISD FGES