Details for: UNC119

Gene ID: 9094

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: UNC119

Ensembl ID: ENSG00000109103

Description: unc-119 lipid binding chaperone

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • retinal rod cell CL0000604
    CSI 36.53
    rCSI 64.39%
    PRS 81.11
  • ON-bipolar cell CL0000749
    CSI 34.6
    rCSI 51.43%
    PRS 85.19
  • OFF-bipolar cell CL0000750
    CSI 32.76
    rCSI 44.79%
    PRS 86.05
  • retinal pigment epithelial cell CL0002586
    CSI 22.07
    rCSI 43.82%
    PRS 81.67
  • retinal cone cell CL0000573
    CSI 21.75
    rCSI 35%
    PRS 76.76
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 17.18
    rCSI 13.23%
    PRS 88.8
  • retinal bipolar neuron CL0000748
    CSI 15.81
    rCSI 29.62%
    PRS 75.47
  • rod bipolar cell CL0000751
    CSI 15.41
    rCSI 27.68%
    PRS 79.83
  • retina horizontal cell CL0000745
    CSI 11.13
    rCSI 16.96%
    PRS 82.7
  • plasmacytoid dendritic cell, human CL0001058
    CSI 10.92
    rCSI 7.63%
    PRS 89.02
  • smooth muscle cell CL0000192
    CSI 10.47
    rCSI 24.98%
    PRS 80.7
  • double negative thymocyte CL0002489
    CSI 7.87
    rCSI 5.47%
    PRS 94.69
  • S cone cell CL0003050
    CSI 7.2
    rCSI 31.62%
    PRS 80.15
  • amacrine cell CL0000561
    CSI 6.38
    rCSI 18.5%
    PRS 76.04
  • myofibroblast cell CL0000186
    CSI 6.01
    rCSI 8.33%
    PRS 82.04
  • type B pancreatic cell CL0000169
    CSI 5.83
    rCSI 12.91%
    PRS 85.36
  • vascular associated smooth muscle cell CL0000359
    CSI 5.82
    rCSI 18.86%
    PRS 83.68
  • hematopoietic stem cell CL0000037
    CSI 5.52
    rCSI 3.67%
    PRS 87.59
  • mature NK T cell CL0000814
    CSI 5.5
    rCSI 7.03%
    PRS 91.59
  • Mueller cell CL0000636
    CSI 4.58
    rCSI 10.46%
    PRS 77.96
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 4.46
    rCSI 7.88%
    PRS 69.25
  • precursor B cell CL0000817
    CSI 4.13
    rCSI 3.61%
    PRS 90.97
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 4.09
    rCSI 4.94%
    PRS 91.79
  • intermediate monocyte CL0002393
    CSI 4.03
    rCSI 6.08%
    PRS 90.21
  • pro-B cell CL0000826
    CSI 3.97
    rCSI 3.29%
    PRS 87.71
  • unswitched memory B cell CL0000970
    CSI 3.85
    rCSI 3.24%
    PRS 95.31
  • naive T cell CL0000898
    CSI 3.55
    rCSI 2.47%
    PRS 95.94
  • small pre-B-II cell CL0000954
    CSI 3.51
    rCSI 3.38%
    PRS 94.74
  • mesenchymal cell CL0008019
    CSI 3.48
    rCSI 8.85%
    PRS 79.48
  • cone retinal bipolar cell CL0000752
    CSI 3.48
    rCSI 45.43%
    PRS 84.13
  • glutamatergic neuron CL0000679
    CSI 3.45
    rCSI 7.1%
    PRS 73.02
  • plasmablast CL0000980
    CSI 3.35
    rCSI 2.64%
    PRS 89.26
  • epithelial cell of lung CL0000082
    CSI 3.33
    rCSI 2.76%
    PRS 86.62
  • epithelial cell of lower respiratory tract CL0002632
    CSI 3.32
    rCSI 2.58%
    PRS 88.85
  • colon epithelial cell CL0011108
    CSI 3.25
    rCSI 3.41%
    PRS 83.09
  • group 3 innate lymphoid cell CL0001071
    CSI 3.16
    rCSI 2.38%
    PRS 90.18
  • glioblast CL0000030
    CSI 3.16
    rCSI 5.05%
    PRS 77.51
  • interstitial cell of Cajal CL0002088
    CSI 3.16
    rCSI 4.03%
    PRS 89.86
  • immature B cell CL0000816
    CSI 3.16
    rCSI 2.35%
    PRS 93.45
  • non-classical monocyte CL0000875
    CSI 3.11
    rCSI 4.99%
    PRS 92.35
  • myeloid leukocyte CL0000766
    CSI 3.03
    rCSI 2.8%
    PRS 86.81
  • duct epithelial cell CL0000068
    CSI 2.9
    rCSI 4.24%
    PRS 89.66
  • pancreatic A cell CL0000171
    CSI 2.86
    rCSI 2.99%
    PRS 88.29
  • mature B cell CL0000785
    CSI 2.85
    rCSI 2.48%
    PRS 92.98
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.83
    rCSI 3.63%
    PRS 81.92
  • interneuron CL0000099
    CSI 2.8
    rCSI 5.61%
    PRS 77.67
  • dendritic cell CL0000451
    CSI 2.79
    rCSI 3.43%
    PRS 86.74
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 2.74
    rCSI 2.69%
    PRS 95.42
  • acinar cell CL0000622
    CSI 2.73
    rCSI 4%
    PRS 92.71
  • stem cell CL0000034
    CSI 2.58
    rCSI 2.49%
    PRS 80.4
  • intestinal epithelial cell CL0002563
    CSI 2.48
    rCSI 2.59%
    PRS 83.1
  • neural crest cell CL0011012
    CSI 2.48
    rCSI 1.96%
    PRS 76.41
  • conventional dendritic cell CL0000990
    CSI 2.46
    rCSI 2.05%
    PRS 82.71
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 2.44
    rCSI 7.01%
    PRS 97.25
  • radial glial cell CL0000681
    CSI 2.38
    rCSI 3.3%
    PRS 83.87
  • monocyte CL0000576
    CSI 2.32
    rCSI 4.19%
    PRS 88.4
  • diffuse bipolar 3a cell CL4033029
    CSI 2.25
    rCSI 15.29%
    PRS 77.57
  • promyelocyte CL0000836
    CSI 2.19
    rCSI 3.16%
    PRS 89.56
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 2.07
    rCSI 2.72%
    PRS 93.63
  • lung macrophage CL1001603
    CSI 2.07
    rCSI 4.62%
    PRS 91.33
  • enteric smooth muscle cell CL0002504
    CSI 2.07
    rCSI 2.95%
    PRS 86.13
  • granulocyte monocyte progenitor cell CL0000557
    CSI 2.05
    rCSI 1.77%
    PRS 88.71
  • stromal cell CL0000499
    CSI 2.04
    rCSI 5.73%
    PRS 80.93
  • mesodermal cell CL0000222
    CSI 2.01
    rCSI 2.41%
    PRS 83.87
  • enteroendocrine cell CL0000164
    CSI 2.01
    rCSI 2.74%
    PRS 84.62
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 2
    rCSI 2.04%
    PRS 92.68
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.89
    rCSI 1.7%
    PRS 84.21
  • common myeloid progenitor CL0000049
    CSI 1.71
    rCSI 1.38%
    PRS 87.47
  • fraction A pre-pro B cell CL0002045
    CSI 1.65
    rCSI 1.88%
    PRS 92.37
  • granulocyte CL0000094
    CSI 1.62
    rCSI 2.48%
    PRS 91.2
  • common dendritic progenitor CL0001029
    CSI 1.58
    rCSI 1.98%
    PRS 92.11
  • club cell CL0000158
    CSI 1.54
    rCSI 2.25%
    PRS 80.64
  • retinal ganglion cell CL0000740
    CSI 1.5
    rCSI 3.31%
    PRS 72.98
  • Langerhans cell CL0000453
    CSI 1.5
    rCSI 2.29%
    PRS 93.79
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 1.44
    rCSI 7.23%
    PRS 94.69
  • dendritic cell, human CL0001056
    CSI 1.42
    rCSI 2.18%
    PRS 92.25
  • myeloid dendritic cell CL0000782
    CSI 1.3
    rCSI 1.89%
    PRS 95.11
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.27
    rCSI 3.97%
    PRS 71.17
  • mature alpha-beta T cell CL0000791
    CSI 1.23
    rCSI 4.47%
    PRS 96.81
  • invaginating midget bipolar cell CL4033034
    CSI 1.12
    rCSI 6.6%
    PRS 76.78
  • germinal center B cell CL0000844
    CSI 1.08
    rCSI 3.21%
    PRS 91.98
  • promonocyte CL0000559
    CSI 1.07
    rCSI 1.84%
    PRS 89.61
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 1.07
    rCSI 2.14%
    PRS 94.16
  • podocyte CL0000653
    CSI 0.73
    rCSI 3.25%
    PRS 86.26
  • Cajal-Retzius cell CL0000695
    CSI 0.36
    rCSI 2.8%
    PRS 88.58
  • B-2 B cell CL0000822
    CSI 0.2
    rCSI 4.25%
    PRS 95.07

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)

Loading network (please wait)...

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 [UNC119](/details-gene/9094) is a protein-coding gene that encodes a lipid-binding chaperone essential for the proper trafficking and function of myristoylated proteins. **Overall**, its expression profile is dominated by an exceptionally high significance in various neuronal cell types of the retina, including the `[retinal rod cell](/details-cell/CL0000604)` (CSI: 36.53), `[ON-bipolar cell](/details-cell/CL0000749)` (CSI: 34.60), and `[OFF-bipolar cell](/details-cell/CL0000750)` (CSI: 32.76). This expression pattern is consistent with its well-documented role in phototransduction and visual perception. Beyond the retina, [UNC119](/details-gene/9094) also shows significant expression in specific immune cell subsets, such as `[CD14-low, CD16-positive monocyte](/details-cell/CL0002396)`, suggesting a secondary but important role in immune signaling pathways. Functionally, it acts as a molecular escort for lipid-modified proteins, such as SRC-family kinases and G-protein subunits, thereby regulating processes from T-cell activation to synaptic transmission and cytokinesis. ## Cellular Roles and Expression Landscape The expression landscape of [UNC119](/details-gene/9094) highlights its specialized function in two primary biological systems: the visual system and the immune system. Its role in the retina is paramount, as evidenced by its status as a top marker across a comprehensive suite of retinal cells. It is most significant in `[retinal rod cell](/details-cell/CL0000604)`, `[ON-bipolar cell](/details-cell/CL0000749)`, `[OFF-bipolar cell](/details-cell/CL0000750)`, `[retinal pigment epithelial cell](/details-cell/CL0002586)`, and `[retinal cone cell](/details-cell/CL0000573)`. This robust and specific expression pattern underscores its integral function in the trafficking of proteins critical for the phototransduction cascade and synaptic maintenance within the neural retina, as first suggested in early characterization studies ([Link](https://pubmed.ncbi.nlm.nih.gov/9761287/), [Link](https://doi.org/10.1006/geno.1999.5791)). Concurrently, [UNC119](/details-gene/9094) displays a significant, albeit lower, expression in distinct immune populations. Its presence in `[CD14-low, CD16-positive monocyte](/details-cell/CL0002396)`, `[plasmacytoid dendritic cell, human](/details-cell/CL0001058)`, and `[double negative thymocyte](/details-cell/CL0002489)` points to a functional role in immune cell signaling. This is supported by research identifying [UNC119](/details-gene/9094) as a novel activator of SRC-family tyrosine kinases like Lck and Fyn, which are essential for T-cell receptor signaling and activation ([Link](https://doi.org/10.1084/jem.20030589)). The data suggest that [UNC119](/details-gene/9094) is not a pan-immune marker but rather contributes to specialized functions within these specific myeloid and lymphoid lineages. ## Pathways and Molecular Function The functions of [UNC119](/details-gene/9094) are directly linked to its core molecular activity as a chaperone for lipid-modified proteins, particularly those with an N-terminal myristoyl group. This is annotated by its involvement in `[lipid binding](/details-cell/GO:0008289)`. Its profound expression in the retina is explained by its critical role in `[phototransduction](/details-cell/GO:0007602)` and `[visual perception](/details-cell/GO:0007601)`. [UNC119](/details-gene/9094) binds to the myristoylated alpha-subunit of the G-protein transducin, facilitating its transport from the inner to the outer segment of photoreceptor cells, a process vital for vision. Its association with `[synapse](/details-cell/GO:0045202)` components and involvement in `[chemical synaptic transmission](/details-cell/GO:0007268)` further explains its high significance in retinal bipolar and horizontal cells. In the immune system, the function of [UNC119](/details-gene/9094) is primarily mediated through its `[positive regulation of protein tyrosine kinase activity](/details-cell/GO:0061098)`. It binds to and activates myristoylated SRC-family kinases, thereby serving as a crucial co-factor in T-cell activation ([Link](https://doi.org/10.1084/jem.20030589)). Furthermore, its annotation in processes like `[endocytosis](/details-cell/GO:0006897)` and its location at the `[centrosome](/details-cell/GO:0005813)` and `[spindle midzone](/details-cell/GO:0051233)` are consistent with its broader role in intracellular trafficking and cell division, including a demonstrated function in bridging Fyn signals to Rab11 to complete `[mitotic cytokinesis](/details-cell/GO:0000281)` ([Link](https://doi.org/10.4161/cc.24404)). It also plays a role in targeting proteins to the primary cilium via an ARL3-GTPase cycle, a mechanism crucial for development and cell signaling ([Link](https://doi.org/10.1101/gad.173443.111)). ## Research Directions The dual, highly specialized roles of [UNC119](/details-gene/9094) in both the retina and the immune system present distinct avenues for future investigation. Its function as a specific chaperone for myristoylated proteins suggests it is a key regulatory node in multiple signaling pathways. **Proposed Hypotheses:** 1. Given its role in activating SRC-family kinases (SFKs) in T cells and its expression in monocytes and dendritic cells, it is hypothesized that [UNC119](/details-gene/9094) is a critical regulator of SFK-dependent innate immune functions, such as phagocytosis, inflammasome activation, or antigen presentation in myeloid cells. 2. Based on its essential role in protein trafficking within photoreceptors and the established link between related trafficking genes (e.g., *ARL2*) and retinal disease ([Link](https://doi.org/10.1111/cge.13541)), it is hypothesized that deleterious mutations in [UNC119](/details-gene/9094) are a cause of an as-yet-unidentified form of hereditary retinal dystrophy, characterized by the mislocalization and degradation of key phototransduction proteins. **Experimental Approach:** To test the first hypothesis regarding the role of [UNC119](/details-gene/9094) in myeloid cell function, a targeted genetic approach could be employed. Specifically, one could use CRISPR-Cas9 to generate an [UNC119](/details-gene/9094) knockout in a human monocytic cell line (e.g., THP-1) or in primary human CD14+ monocytes. After differentiation into macrophages, these cells would be compared to wild-type controls. Key assays would include: (i) Western blot analysis to measure the phosphorylation levels of SFKs and their downstream targets following stimulation with TLR agonists like LPS; (ii) a phagocytosis assay using fluorescently labeled E. coli or zymosan particles to quantify engulfment efficiency; and (iii) measurement of cytokine production (e.g., TNF-alpha, IL-6) by ELISA or multiplex assay to assess the inflammatory response. A significant reduction in SFK activation, phagocytosis, and/or cytokine secretion in knockout cells would confirm its crucial role in these innate immune processes. **Therapeutic Potential:** As an intracellular adaptor protein that mediates protein-protein interactions, [UNC119](/details-gene/9094) presents a challenging therapeutic target for traditional small molecules. However, its role as a positive regulator of T-cell activation suggests that inhibiting its function could be beneficial in T-cell-mediated autoimmune diseases or inflammatory conditions. Developing peptidomimetics or small molecules that disrupt the interaction between [UNC119](/details-gene/9094) and SRC-family kinases represents a potential, albeit difficult, therapeutic strategy. Conversely, in the context of retinal disease caused by loss-of-function mutations, [UNC119](/details-gene/9094) could be a candidate for AAV-mediated gene replacement therapy, leveraging its high specificity for retinal cells to restore proper protein trafficking and prevent photoreceptor degeneration.

Genular Protein ID: 1399735832

Symbol: U119A_HUMAN

Name: Protein unc-119 homolog A

UniProtKB Accession Codes:

Q13432 A8K8G4 F1T095 O95126

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8576185

Title: Cloning of the cDNA for a novel photoreceptor protein.

PubMed ID: 8576185

DOI: 10.1074/jbc.271.3.1797

PubMed ID: 9761287

Title: Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors.

PubMed ID: 9761287

PubMed ID: 10329014

Title: Characterization of the gene for HRG4 (UNC119), a novel photoreceptor synaptic protein homologous to unc-119.

PubMed ID: 10329014

DOI: 10.1006/geno.1999.5791

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 11303027

Title: ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins.

PubMed ID: 11303027

DOI: 10.1074/jbc.m102359200

PubMed ID: 12496276

Title: Identification of UNC119 as a novel activator of SRC-type tyrosine kinases.

PubMed ID: 12496276

DOI: 10.1074/jbc.m208261200

PubMed ID: 14757743

Title: Unc119, a novel activator of Lck/Fyn, is essential for T cell activation.

PubMed ID: 14757743

DOI: 10.1084/jem.20030589

PubMed ID: 18588884

Title: Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.

PubMed ID: 18588884

DOI: 10.1016/j.febslet.2008.05.053

PubMed ID: 19381274

Title: Unc119 protects from Shigella infection by inhibiting the Abl family kinases.

PubMed ID: 19381274

DOI: 10.1371/journal.pone.0005211

PubMed ID: 22085962

Title: An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.

PubMed ID: 22085962

DOI: 10.1101/gad.173443.111

PubMed ID: 23535298

Title: UNC119a bridges the transmission of Fyn signals to Rab11, leading to the completion of cytokinesis.

PubMed ID: 23535298

DOI: 10.4161/cc.24404

PubMed ID: 30945270

Title: Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

PubMed ID: 30945270

DOI: 10.1111/cge.13541

PubMed ID: 31696965

Title: Cul3-Klhl18 ubiquitin ligase modulates rod transducin translocation during light-dark adaptation.

PubMed ID: 31696965

DOI: 10.15252/embj.2018101409

PubMed ID: 36293380

Title: The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

PubMed ID: 36293380

DOI: 10.3390/ijms232012527

PubMed ID: 21642972

Title: UNC119 is required for G protein trafficking in sensory neurons.

PubMed ID: 21642972

DOI: 10.1038/nn.2835

PubMed ID: 22960633

Title: Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.

PubMed ID: 22960633

DOI: 10.1038/emboj.2012.257

PubMed ID: 11006213

Title: HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.

PubMed ID: 11006213

PubMed ID: 22184408

Title: A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.

PubMed ID: 22184408

DOI: 10.1182/blood-2011-04-350686

PubMed ID: 35947183

Title: Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

PubMed ID: 35947183

DOI: 10.1007/s00417-022-05786-4

Sequence Information:

  • Length: 240
  • Mass: 26962
  • Checksum: 22FD19C3518A4446
  • Sequence:
    • MKVKKGGGGA GTATESAPGP SGQSVAPIPQ PPAESESGSE SEPDAGPGPR PGPLQRKQPI 
GPEDVLGLQR ITGDYLCSPE ENIYKIDFVR FKIRDMDSGT VLFEIKKPPV SERLPINRRD 
LDPNAGRFVR YQFTPAFLRL RQVGATVEFT VGDKPVNNFR MIERHYFRNQ LLKSFDFHFG 
FCIPSSKNTC EHIYDFPPLS EELISEMIRH PYETQSDSFY FVDDRLVMHN KADYSYSGTP

Genular Protein ID: 2662131016

Symbol: K7EN86_HUMAN

Name: N/A

UniProtKB Accession Codes:

K7EN86 A0A024QZ13

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 GO 6 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 4 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 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: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 145
  • Mass: 17081
  • Checksum: 4B3DE6DECB9D7793
  • Sequence:
    • MDSGTVLFEI KKPPVSERLP INRRDLDPNA GRFVRYQFTP AFLRLRQVGA TVEFTVGDKP 
VNNFRMIERH YFRNQLLKSF DFHFGFCIPS SKNTCEHIYD FPPLSEELIS EMIRHPYETQ 
SDSFYFVDDR LVMHNKADYS YSGTP