Details for: ABHD14A

Gene ID: 25864

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: ABHD14A

Ensembl ID: ENSG00000248487

Description: abhydrolase domain containing 14A

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • peripheral nervous system neuron CL2000032
    CSI 6.65
    rCSI 9.05%
    PRS 76.47
  • pancreatic A cell CL0000171
    CSI 6.43
    rCSI 6.74%
    PRS 87.16
  • CD16-positive, CD56-dim natural killer cell, human CL0000939
    CSI 5.51
    rCSI 3.68%
    PRS 93.23
  • rod bipolar cell CL0000751
    CSI 5.45
    rCSI 9.79%
    PRS 78.14
  • IgA plasma cell CL0000987
    CSI 5.27
    rCSI 5.39%
    PRS 89.62
  • hematopoietic stem cell CL0000037
    CSI 5.17
    rCSI 3.43%
    PRS 86.43
  • ciliated epithelial cell CL0000067
    CSI 4.77
    rCSI 4.2%
    PRS 74.21
  • alveolar adventitial fibroblast CL4028006
    CSI 4.75
    rCSI 7.5%
    PRS 85.35
  • amacrine cell CL0000561
    CSI 4.6
    rCSI 13.34%
    PRS 74.28
  • epithelial cell of lung CL0000082
    CSI 4.53
    rCSI 3.75%
    PRS 85.23
  • effector CD8-positive, alpha-beta T cell CL0001050
    CSI 4.36
    rCSI 3.32%
    PRS 94.64
  • plasmacytoid dendritic cell, human CL0001058
    CSI 4.14
    rCSI 2.89%
    PRS 87.53
  • retinal rod cell CL0000604
    CSI 4.05
    rCSI 7.14%
    PRS 79.59
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 3.94
    rCSI 6.95%
    PRS 67.16
  • ON-bipolar cell CL0000749
    CSI 3.92
    rCSI 5.83%
    PRS 83.73
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 3.89
    rCSI 2.3%
    PRS 96.25
  • pancreatic D cell CL0000173
    CSI 3.85
    rCSI 3.78%
    PRS 86.33
  • acinar cell CL0000622
    CSI 3.82
    rCSI 5.6%
    PRS 91.94
  • retinal ganglion cell CL0000740
    CSI 3.71
    rCSI 8.2%
    PRS 70.98
  • interneuron CL0000099
    CSI 3.27
    rCSI 6.56%
    PRS 75.68
  • retinal cone cell CL0000573
    CSI 3.26
    rCSI 5.24%
    PRS 75.05
  • plasmablast CL0000980
    CSI 3.23
    rCSI 2.54%
    PRS 88.31
  • fallopian tube secretory epithelial cell CL4030006
    CSI 3.17
    rCSI 3.05%
    PRS 83.5
  • choroid plexus epithelial cell CL0000706
    CSI 3.1
    rCSI 5.08%
    PRS 74.71
  • fibroblast of lung CL0002553
    CSI 3.04
    rCSI 2.83%
    PRS 85.01
  • type B pancreatic cell CL0000169
    CSI 2.93
    rCSI 6.49%
    PRS 83.97
  • skin fibroblast CL0002620
    CSI 2.86
    rCSI 2.47%
    PRS 84.09
  • club cell CL0000158
    CSI 2.66
    rCSI 3.89%
    PRS 79.17
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 2.66
    rCSI 7.84%
    PRS 84.82
  • OFF-bipolar cell CL0000750
    CSI 2.64
    rCSI 3.62%
    PRS 84.97
  • neural crest cell CL0011012
    CSI 2.59
    rCSI 2.05%
    PRS 74.56
  • plasma cell CL0000786
    CSI 2.46
    rCSI 3.23%
    PRS 93.53
  • intestine goblet cell CL0019031
    CSI 2.44
    rCSI 2.17%
    PRS 81.96
  • intestinal epithelial cell CL0002563
    CSI 2.44
    rCSI 2.55%
    PRS 81.85
  • myeloid leukocyte CL0000766
    CSI 2.43
    rCSI 2.24%
    PRS 85.55
  • P/D1 enteroendocrine cell CL0002268
    CSI 2.41
    rCSI 13.12%
    PRS 89.8
  • enteroendocrine cell CL0000164
    CSI 2.41
    rCSI 3.29%
    PRS 83.43
  • lung neuroendocrine cell CL1000223
    CSI 2.39
    rCSI 3.53%
    PRS 87.14
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 2.17
    rCSI 1.96%
    PRS 82.77
  • retina horizontal cell CL0000745
    CSI 2.13
    rCSI 3.25%
    PRS 81.13
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.13
    rCSI 2.73%
    PRS 80.51
  • retinal bipolar neuron CL0000748
    CSI 2.13
    rCSI 3.99%
    PRS 73.51
  • multi-ciliated epithelial cell CL0005012
    CSI 2.04
    rCSI 2.04%
    PRS 78.39
  • stem cell CL0000034
    CSI 2.04
    rCSI 1.97%
    PRS 78.65
  • mucous neck cell CL0000651
    CSI 1.99
    rCSI 2.87%
    PRS 89.45
  • cerebral cortex neuron CL0010012
    CSI 1.97
    rCSI 8.02%
    PRS 76.22
  • glioblast CL0000030
    CSI 1.96
    rCSI 3.13%
    PRS 76.09
  • radial glial cell CL0000681
    CSI 1.95
    rCSI 2.7%
    PRS 82.71
  • effector memory CD8-positive, alpha-beta T cell CL0000913
    CSI 1.87
    rCSI 1.71%
    PRS 93.76
  • lung ciliated cell CL1000271
    CSI 1.86
    rCSI 2.16%
    PRS 77.32
  • bronchus fibroblast of lung CL2000093
    CSI 1.86
    rCSI 1.51%
    PRS 83.55
  • retinal pigment epithelial cell CL0002586
    CSI 1.84
    rCSI 3.65%
    PRS 80.16
  • pancreatic PP cell CL0002275
    CSI 1.76
    rCSI 7%
    PRS 89.6
  • effector memory CD4-positive, alpha-beta T cell CL0000905
    CSI 1.74
    rCSI 2.37%
    PRS 96.63
  • common myeloid progenitor CL0000049
    CSI 1.65
    rCSI 1.33%
    PRS 86.24
  • epithelial cell of proximal tubule CL0002306
    CSI 1.54
    rCSI 3.77%
    PRS 76.82
  • eye photoreceptor cell CL0000287
    CSI 1.37
    rCSI 15.43%
    PRS 89.96
  • glycinergic amacrine cell CL4030028
    CSI 1.26
    rCSI 3.28%
    PRS 78.38
  • pancreatic epsilon cell CL0005019
    CSI 1.21
    rCSI 5.66%
    PRS 90.18
  • microcirculation associated smooth muscle cell CL0008035
    CSI 1.21
    rCSI 3.5%
    PRS 83.3
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.2
    rCSI 2.74%
    PRS 77.75
  • mesenchymal cell CL0008019
    CSI 1.11
    rCSI 2.83%
    PRS 77.88
  • intraepithelial lymphocyte CL0002496
    CSI 1.11
    rCSI 3.01%
    PRS 96.09
  • type EC enteroendocrine cell CL0000577
    CSI 0.63
    rCSI 2.25%
    PRS 86.76
  • Cajal-Retzius cell CL0000695
    CSI 0.49
    rCSI 3.88%
    PRS 87.46
  • cytotoxic T cell CL0000910
    CSI 0.28
    rCSI 1.62%
    PRS 86.24
  • enteric neuron CL0007011
    CSI 0.24
    rCSI 3.59%
    PRS 88.44

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.

Comma-separated if multiple.
Comma-separated if multiple.
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 [ABHD14A](/details-gene/25864) (abhydrolase domain containing 14A) is a protein-coding gene located on chromosome 3p21.2. As its name suggests, it is a member of the alpha/beta hydrolase superfamily, a large and functionally diverse group of enzymes. Functional annotations indicate [ABHD14A](/details-gene/25864) possesses hydrolase activity ([GO:0016787](https://www.ebi.ac.uk/QuickGO/term/GO:0016787)) and is localized to the cytoplasm ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)) and membrane ([GO:0016020](https://www.ebi.ac.uk/QuickGO/term/GO:0016020)). Expression data reveals its significance across a surprisingly broad range of functionally distinct and highly specialized cell types. **Overall**, it is a key marker in cell types from the nervous, immune, and endocrine systems, including [peripheral nervous system neuron](/details-cell/CL2000032), [pancreatic A cell](/details-cell/CL0000171), and [CD16-positive, CD56-dim natural killer cell, human](/details-cell/CL0000939), suggesting a role in a fundamental cellular process common to these diverse lineages. The gene was identified through large-scale cDNA and protein discovery projects ([Link](https://doi.org/10.1101/gr.1293003), [Link](https://doi.org/10.1186/1471-2164-8-399), [Link](https://doi.org/10.1101/gr.2596504)). ## Cellular Roles and Expression Landscape The expression profile of [ABHD14A](/details-gene/25864) suggests it is involved in specialized functions across multiple biological systems rather than being a ubiquitous housekeeping gene. **Nervous System:** [ABHD14A](/details-gene/25864) shows its highest significance in the [peripheral nervous system neuron](/details-cell/CL2000032) (CSI: 6.65). It is also significantly expressed in several retinal cell types, including the [rod bipolar cell](/details-cell/CL0000751), [amacrine cell](/details-cell/CL0000561), and [retinal rod cell](/details-cell/CL0000604). This strong and specific expression pattern across multiple neuronal subtypes points towards a conserved role in neuronal function, potentially related to the maintenance of complex membrane structures or metabolic pathways critical for neural activity. **Immune System:** The gene is a significant marker in both the innate and adaptive immune systems. It is highly expressed in cytotoxic lymphocytes such as [CD16-positive, CD56-dim natural killer cell, human](/details-cell/CL0000939) and [effector CD8-positive, alpha-beta T cell](/details-cell/CL0001050). Its prominence in terminally differentiated [IgA plasma cell](/details-cell/CL0000987) suggests a role in the high metabolic and secretory demands of antibody production. Furthermore, its expression in [hematopoietic stem cell](/details-cell/CL0000037) and [plasmacytoid dendritic cell, human](/details-cell/CL0001058) indicates a potential role spanning from the earliest stages of hematopoiesis to antigen presentation. **Other Specialized Tissues:** Beyond the nervous and immune systems, [ABHD14A](/details-gene/25864) is highly significant in [pancreatic A cell](/details-cell/CL0000171), which is responsible for glucagon secretion. It is also notably expressed in various epithelial and structural cells, including [ciliated epithelial cell](/details-cell/CL0000067) and [alveolar adventitial fibroblast](/details-cell/CL4028006). This pattern suggests that its hydrolase activity may support fundamental processes required by diverse, high-activity cell types. ## Pathways and Molecular Function The primary annotated molecular function for [ABHD14A](/details-gene/25864) is hydrolase activity ([GO:0016787](https://www.ebi.ac.uk/QuickGO/term/GO:0016787)). Members of the abhydrolase family typically act on substrates with ester bonds, with many being lipases or esterases. Given its high expression in metabolically active and structurally complex cells like neurons and plasma cells, it is plausible that [ABHD14A](/details-gene/25864) is involved in lipid metabolism or signaling. This enzymatic function could be crucial for regulating membrane fluidity, processing lipid-based signaling molecules, or managing energy stores. The dual localization to the cytoplasm ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)) and membrane ([GO:0016020](https://www.ebi.ac.uk/QuickGO/term/GO:0016020)) is consistent with a role in processing substrates at the interface of cellular compartments. It may act on cytosolic lipid droplets or be recruited to membranes to modify lipid components, thereby influencing cellular signaling, trafficking, or structural integrity. ## Research Directions The broad yet specific expression pattern of [ABHD14A](/details-gene/25864) across diverse, functionally critical cell types, combined with its largely uncharacterized function, presents several compelling avenues for future research. **Proposed Hypotheses:** 1. **Neuronal Maintenance:** Given its high significance in multiple neuronal cell types, [ABHD14A](/details-gene/25864) may function as a critical lipase or esterase required for maintaining the integrity and function of myelin sheaths or complex dendritic membranes. Its dysregulation could be a contributing factor in peripheral neuropathies or retinopathies. 2. **Immune Effector Regulation:** The prominent expression in cytotoxic lymphocytes ([NK cells](/details-cell/CL0000939), [CD8+ T cells](/details-cell/CL0001050)) and [plasma cells](/details-cell/CL0000987) suggests that [ABHD14A](/details-gene/25864) regulates effector functions by controlling the availability of specific lipid signaling molecules essential for degranulation, cytokine release, or antibody secretion. **Suggested Experimental Approach:** To test the second hypothesis regarding its role in immune regulation, a targeted functional genomics approach could be employed. Specifically, one could use CRISPR-Cas9 to knock out [ABHD14A](/details-gene/25864) in primary human [CD16-positive, CD56-dim natural killer cell, human](/details-cell/CL0000939). The functional consequences could be evaluated by comparing the cytotoxic capacity of knockout versus wild-type cells against tumor cell lines in a co-culture killing assay. Additionally, untargeted lipidomics analysis of these cells before and after stimulation would help identify the specific lipid substrate(s) of [ABHD14A](/details-gene/25864), thereby elucidating the precise metabolic or signaling pathway it modulates. **Therapeutic Potential:** The widespread expression of [ABHD14A](/details-gene/25864) in essential cell types, including neurons and various immune cells, suggests that systemic targeting could lead to significant off-target toxicity. Currently, its potential as a therapeutic target is low due to the lack of a clear association with a specific disease. However, if its enzymatic activity is found to be aberrantly high in a specific pathological context, such as in certain cancers or autoimmune disorders driven by overactive immune cells, developing a highly specific small-molecule inhibitor could be a viable therapeutic strategy. Further research is first required to link its function to a disease state.

Genular Protein ID: 2126325526

Symbol: ABHEA_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BUJ0 Q6UXU8 Q9Y3T7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 3 ESTHER 1 Ensembl 1 ExpressionAtlas 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MEROPS 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 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: 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: 17974005

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

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 271
  • Mass: 29765
  • Checksum: B9CAF975D3208F10
  • Sequence:
    • MVGALCGCWF RLGGARPLIP LGPTVVQTSM SRSQVALLGL SLLLMLLLYV GLPGPPEQTS 
CLWGDPNVTV LAGLTPGNSP IFYREVLPLN QAHRVEVVLL HGKAFNSHTW EQLGTLQLLS 
QRGYRAVALD LPGFGNSAPS KEASTEAGRA ALLERALRDL EVQNAVLVSP SLSGHYALPF 
LMRGHHQLHG FVPIAPTSTQ NYTQEQFWAV KTPTLILYGE LDHILARESL RQLRHLPNHS 
VVKLRNAGHA CYLHKPQDFH LVLLAFLDHL P