Details for: GSG1L

Gene ID: 146395

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: GSG1L

Ensembl ID: ENSG00000169181

Description: GSG1 like

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 12.22
    rCSI 22.2%
    PRS 97.69
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 12.13
    rCSI 37.92%
    PRS 97.62
  • inhibitory interneuron CL0000498
    CSI 11.94
    rCSI 27.57%
    PRS 97.4
  • L6b glutamatergic cortical neuron CL4023038
    CSI 8.86
    rCSI 27.68%
    PRS 97.29
  • oligodendrocyte precursor cell CL0002453
    CSI 8.19
    rCSI 18.03%
    PRS 93.6
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 8.1
    rCSI 19.7%
    PRS 96.42
  • cardiac muscle cell CL0000746
    CSI 6.93
    rCSI 9.94%
    PRS 97.54
  • GABAergic amacrine cell CL4030027
    CSI 6.16
    rCSI 21.08%
    PRS 95.77
  • interneuron CL0000099
    CSI 5.66
    rCSI 11.37%
    PRS 98.28
  • sncg GABAergic cortical interneuron CL4023015
    CSI 5.11
    rCSI 8.22%
    PRS 97.13
  • VIP GABAergic cortical interneuron CL4023016
    CSI 4.52
    rCSI 5.4%
    PRS 97.29
  • regular atrial cardiac myocyte CL0002129
    CSI 3.18
    rCSI 10.23%
    PRS 98.22
  • melanocyte of skin CL1000458
    CSI 2.93
    rCSI 3.99%
    PRS 90
  • glutamatergic neuron CL0000679
    CSI 2.79
    rCSI 5.74%
    PRS 95.39
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 2.76
    rCSI 4.88%
    PRS 97.41
  • medium spiny neuron CL1001474
    CSI 2.74
    rCSI 23.64%
    PRS 97.21
  • dopaminergic neuron CL0000700
    CSI 2.58
    rCSI 14.6%
    PRS 96.59
  • central nervous system neuron CL2000029
    CSI 2.5
    rCSI 18.35%
    PRS 97.68
  • retinal ganglion cell CL0000740
    CSI 2.19
    rCSI 4.85%
    PRS 97.25
  • amacrine cell CL0000561
    CSI 2.18
    rCSI 6.31%
    PRS 97.34
  • GABAergic neuron CL0000617
    CSI 2.16
    rCSI 7.24%
    PRS 95.28
  • direct pathway medium spiny neuron CL4023026
    CSI 2.04
    rCSI 48.92%
    PRS 95.77
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.02
    rCSI 48.76%
    PRS 95.69
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.02
    rCSI 4.37%
    PRS 95.57
  • basal cell of epidermis CL0002187
    CSI 2.01
    rCSI 3.57%
    PRS 88.65
  • ON parasol ganglion cell CL4033052
    CSI 1.98
    rCSI 28.15%
    PRS 96.87
  • serotonergic neuron CL0000850
    CSI 1.81
    rCSI 8.08%
    PRS 94.75
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 1.52
    rCSI 8.96%
    PRS 96.84
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 1.45
    rCSI 5.49%
    PRS 96.81
  • OFF midget ganglion cell CL4033047
    CSI 1.1
    rCSI 22.31%
    PRS 96.92

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):
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    • High
    • Medium
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    • 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 [GSG1L](/details-gene/146395), or Germ cell-specific gene 1-like, is a protein-coding gene located on chromosome 16p12.1. It encodes a transmembrane protein implicated in the regulation of synaptic function. Gene Ontology annotations strongly link [GSG1L](/details-gene/146395) to the modulation of AMPA receptor activity at the postsynaptic density of [glutamatergic synapses](/details-cell/GO:0098978). Expression data reveals its highest significance in the central nervous system, where it serves as a key marker for several distinct cell populations, including [differentiation-committed oligodendrocyte precursors](/details-cell/CL4023059), various subtypes of GABAergic [interneurons](/details-cell/CL0000099), and [glutamatergic neurons](/details-cell/CL0000679). Significant expression is also noted in [cardiac muscle cells](/details-cell/CL0000746), suggesting a potential secondary role outside the nervous system. ## Cellular Roles and Expression Landscape The expression profile of [GSG1L](/details-gene/146395) underscores its prominent role within the central nervous system, with a specific enrichment in both glial and neuronal lineages. * **Glial Cells:** In the **Overall** context, the gene shows its highest significance in [differentiation-committed oligodendrocyte precursors](/details-cell/CL4023059) (CSI: 12.22) and [oligodendrocyte precursor cells](/details-cell/CL0002453) (CSI: 8.19). This strong association suggests a potential function for [GSG1L](/details-gene/146395) in oligodendrocyte development, differentiation, or neuron-glia communication. * **Inhibitory Neurons:** [GSG1L](/details-gene/146395) is a significant marker for multiple classes of [inhibitory interneurons](/details-cell/CL0000498) (CSI: 11.94), including [chandelier pvalb GABAergic cortical interneurons](/details-cell/CL4023036) (CSI: 12.13), [sncg GABAergic cortical interneurons](/details-cell/CL4023015) (CSI: 5.11), and [VIP GABAergic cortical interneurons](/details-cell/CL4023016) (CSI: 4.52). Its presence across diverse interneuron subtypes points to a potentially fundamental role in regulating inhibitory circuits. * **Excitatory Neurons:** The gene is also highly expressed in several types of [glutamatergic neurons](/details-cell/CL0000679), such as [L6b glutamatergic cortical neurons](/details-cell/CL4023038) (CSI: 8.86) and [L2/3-6 intratelencephalic projecting glutamatergic neurons](/details-cell/CL4023040) (CSI: 8.10), which aligns with its annotated function in glutamatergic signaling. * **Extracardiac and Retinal Expression:** Beyond the cortex, [GSG1L](/details-gene/146395) is also a marker for [GABAergic amacrine cells](/details-cell/CL4030027) in the retina. Notably, it exhibits significant expression in [cardiac muscle cells](/details-cell/CL0000746) (CSI: 6.93) and [regular atrial cardiac myocytes](/details-cell/CL0002129) (CSI: 3.18), indicating a conserved or repurposed function in cardiac tissue. ## Pathways and Molecular Function The functional annotations for [GSG1L](/details-gene/146395) are highly consistent with its expression pattern in the central nervous system. It is localized to the [plasma membrane](/details-cell/GO:0005886), with specific enrichment at the [postsynaptic density membrane](/details-cell/GO:0098839) within [glutamatergic synapses](/details-cell/GO:0098978), including the [Schaffer collateral - ca1 synapse](/details-cell/GO:0098685) critical for memory formation. Its primary annotated biological process is the regulation of AMPA receptor activity ([GO:2000311](https://www.ebi.ac.uk/QuickGO/term/GO:2000311)), including the modulation of [postsynaptic neurotransmitter receptor internalization](/details-cell/GO:0099149). This function is central to controlling synaptic strength, a mechanism underlying learning and memory. This regulatory role is likely achieved through its molecular function as a [protein binding](/details-cell/GO:0005515) partner. The characterization of GSG1L as a transmembrane protein by large-scale bioinformatics initiatives further supports its role as a cell-surface regulator of synaptic components [Link](https://doi.org/10.1101/gr.1293003). ## Research Directions The specific expression pattern of [GSG1L](/details-gene/146395) in distinct neural and cardiac cell types, combined with its known function in regulating a fundamental aspect of synaptic transmission, provides a foundation for several testable hypotheses. 1. **Hypothesis on Neuron-Glia Interaction:** Given its top expression in [oligodendrocyte precursor cells](/details-cell/CL0002453) but its established function at neuronal synapses, we hypothesize that [GSG1L](/details-gene/146395) acts as a sensor of neuronal activity. It may detect synaptic glutamate levels to modulate oligodendrocyte precursor cell proliferation, differentiation, or the initiation of myelination, thereby coupling circuit activity to myelin plasticity. 2. **Hypothesis on Inhibitory Circuit Modulation:** Since [GSG1L](/details-gene/146395) regulates excitatory AMPA receptors but is highly expressed in GABAergic [interneurons](/details-cell/CL0000099), we propose that its function in these cells is to fine-tune their excitability. By modulating the strength of glutamatergic inputs onto these inhibitory cells, [GSG1L](/details-gene/146395) may serve as a key regulator of the overall excitation/inhibition balance in cortical circuits. 3. **Hypothesis on Cardiac Function:** The expression of [GSG1L](/details-gene/146395) in [cardiac muscle cells](/details-cell/CL0000746) is intriguing. As glutamate receptors are also expressed in the heart and implicated in cardiac physiology, we hypothesize that [GSG1L](/details-gene/146395) performs an analogous role in this tissue, modulating glutamate receptor signaling to influence cardiac contractility or response to ischemic stress. * **Suggested Experimental Approach:** To test the hypothesis regarding its role in neuron-glia interaction (Hypothesis 1), a conditional knockout mouse model could be generated where [GSG1L](/details-gene/146395) is specifically deleted in the oligodendrocyte lineage (e.g., using a *Pdgfra-CreER* driver). The resulting animals could be assessed for defects in developmental myelination and remyelination following demyelinating injury. *In vitro* co-culture systems of neurons with knockout [oligodendrocyte precursor cells](/details-cell/CL0002453) could be used to directly measure the impact of [GSG1L](/details-gene/146395) on activity-dependent differentiation and myelin sheath formation. * **Therapeutic Potential:** As a modulator of AMPA receptor function, [GSG1L](/details-gene/146395) represents a potential therapeutic target for neurological and psychiatric disorders characterized by dysregulated glutamatergic signaling, such as epilepsy, schizophrenia, or ischemic brain injury. Its nature as a transmembrane protein makes it accessible to targeting by antibodies or small molecules. Depending on the disease context, either inhibition (to reduce excitotoxicity) or activation (to enhance synaptic function) could be therapeutically beneficial. However, its significant expression in cardiac tissue raises a potential concern for off-target cardiovascular effects, suggesting that CNS-specific targeting strategies may be required for safe therapeutic development.

Genular Protein ID: 4120384747

Symbol: GSG1L_HUMAN

Name: Germ cell-specific gene 1-like protein

UniProtKB Accession Codes:

Q6UXU4 Q7Z6F8 Q8TB81

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 4 ExpressionAtlas 1 GO 5 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 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 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 3 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 10493829

Title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

PubMed ID: 10493829

DOI: 10.1006/geno.1999.5927

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: 331
  • Mass: 36774
  • Checksum: 7CAC097C9DF7FBCB
  • Sequence:
    • MKTSRRGRAL LAVALNLLAL LFATTAFLTT HWCQGTQRVP KPGCGQGGRA NCPNSGANAT 
ANGTAAPAAA AAAATASGNG PPGGALYSWE TGDDRFLFRN FHTGIWYSCE EELSGLGEKC 
RSFIDLAPAS EKGVLWLSVV SEVLYILLLV VGFSLMCLEL FHSSNVIDGL KLNAFAAVFT 
VLSGLLGMVA HMMYTQVFQV TVSLGPEDWR PHSWDYGWSF CLAWGSFTCC MAASVTTLNS 
YTKTVIEFRH KRKVFEQGYR EEPTFIDPEA IKYFRERMEK RDGSEEDFHL DCRHERYPAR 
HQPHMADSWP RSSAQEAPEL NRQCWVLGHW V

Genular Protein ID: 2852524097

Symbol: B3KY67_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KY67

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 1 InterPro 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 PharmGKB 1 RefSeq 2 SAM 1

Sequence Information:

  • Length: 176
  • Mass: 20583
  • Checksum: 3EF3F66D0EC080D6
  • Sequence:
    • MCLELFHSSN VIDGLKLNAF AAVFTVLSGL LGMVAHMMYT QVFQVTVSLG PEDWRPHSWD 
YGWSFCLAWG SFTCCKAASV TTLNSYTKTV IEFRHKRKVF EQGYREEPTF IDPEAIKYFR 
ERMEKRDGSE EDFHLDCRHE RYPARHQPHM ADSWPRSSAQ EAPELNRQCW VLGHWV