Details for: C1QTNF1

Gene ID: 114897

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: C1QTNF1

Ensembl ID: ENSG00000173918

Description: C1q and TNF related 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • microcirculation associated smooth muscle cell CL0008035
    CSI 11.35
    rCSI 32.85%
    PRS 95.82
  • hepatic stellate cell CL0000632
    CSI 9.16
    rCSI 34.3%
    PRS 94.46
  • perivascular cell CL4033054
    CSI 8.31
    rCSI 11.36%
    PRS 97.85
  • smooth muscle cell CL0000192
    CSI 5.72
    rCSI 13.65%
    PRS 92.95
  • cardiac muscle cell CL0000746
    CSI 4.88
    rCSI 7%
    PRS 91.18
  • adipocyte CL0000136
    CSI 4.33
    rCSI 5.56%
    PRS 91.34
  • syncytiotrophoblast cell CL0000525
    CSI 3.8
    rCSI 10.95%
    PRS 95.67
  • tracheobronchial smooth muscle cell CL0019019
    CSI 3.72
    rCSI 6.55%
    PRS 97.5
  • regular atrial cardiac myocyte CL0002129
    CSI 3.62
    rCSI 11.66%
    PRS 93.44
  • neural progenitor cell CL0011020
    CSI 3.47
    rCSI 15.26%
    PRS 88.43
  • lung pericyte CL0009089
    CSI 3.08
    rCSI 8.14%
    PRS 97.91
  • fibroblast of lung CL0002553
    CSI 3.02
    rCSI 2.81%
    PRS 97.23
  • skin fibroblast CL0002620
    CSI 3
    rCSI 2.59%
    PRS 96.06
  • vascular associated smooth muscle cell CL0000359
    CSI 2.94
    rCSI 9.52%
    PRS 95.7
  • epithelial cell CL0000066
    CSI 2.85
    rCSI 4.38%
    PRS 87.33
  • blood vessel endothelial cell CL0000071
    CSI 2.77
    rCSI 5.74%
    PRS 95.31
  • choroid plexus epithelial cell CL0000706
    CSI 2.69
    rCSI 4.41%
    PRS 92.39
  • placental villous trophoblast CL2000060
    CSI 2.51
    rCSI 3.88%
    PRS 95.02
  • retinal blood vessel endothelial cell CL0002585
    CSI 2.5
    rCSI 3.99%
    PRS 97.3
  • Schwann cell CL0002573
    CSI 2.45
    rCSI 6.97%
    PRS 94.1
  • contractile cell CL0000183
    CSI 2.29
    rCSI 6.77%
    PRS 96.35
  • endothelial cell of pericentral hepatic sinusoid CL0019022
    CSI 2.28
    rCSI 7.04%
    PRS 96.51
  • extravillous trophoblast CL0008036
    CSI 2.2
    rCSI 2.72%
    PRS 95.01
  • pulmonary artery endothelial cell CL1001568
    CSI 2.08
    rCSI 2.83%
    PRS 97.87
  • adventitial cell CL0002503
    CSI 1.99
    rCSI 4.75%
    PRS 97.53
  • epicardial adipocyte CL1000309
    CSI 1.96
    rCSI 6.37%
    PRS 94.32
  • renal interstitial pericyte CL1001318
    CSI 1.9
    rCSI 5.24%
    PRS 95.29
  • smooth muscle cell of the pulmonary artery CL0002591
    CSI 1.23
    rCSI 9.39%
    PRS 96.62
  • vein endothelial cell of respiratory system CL4033008
    CSI 1.09
    rCSI 7.49%
    PRS 97.56
  • pancreatic stellate cell CL0002410
    CSI 0.57
    rCSI 3.32%
    PRS 96.71
  • follicular dendritic cell CL0000442
    CSI 0.56
    rCSI 9.06%
    PRS 97.53
  • blood vessel smooth muscle cell CL0019018
    CSI 0.39
    rCSI 3.13%
    PRS 95.53

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 [C1QTNF1](/details-gene/114897) (C1q and TNF related 1) is a protein-coding gene located on chromosome 17q25.3. It encodes a secreted protein that is a member of the C1q/TNF superfamily, which is characterized by a C-terminal globular C1q domain and an N-terminal collagen-like domain. Functionally, [C1QTNF1](/details-gene/114897) is involved in a variety of signaling processes, including the regulation of glucose metabolism, platelet activation, and intracellular signaling cascades such as MAPK and PI3K/AKT. Its expression is particularly prominent in mesenchymal-derived cell types, including various smooth muscle cells and [hepatic stellate cells](/details-cell/CL0000632), suggesting a significant role in vascular biology, tissue homeostasis, and organ-specific metabolic functions. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [C1QTNF1](/details-gene/114897) indicates a primary role in structural, contractile, and metabolic tissues, particularly those associated with the vasculature and organ stroma. The gene shows the highest significance in [microcirculation associated smooth muscle cell](/details-cell/CL0008035) (CSI: 11.35) and [hepatic stellate cell](/details-cell/CL0000632) (CSI: 9.16), highlighting its importance in these specific cellular contexts. The top-ranking cell types can be functionally grouped into several categories: * **Vascular and Contractile Cells:** A significant number of the top-expressing cells are muscle-related, including [microcirculation associated smooth muscle cell](/details-cell/CL0008035), [smooth muscle cell](/details-cell/CL0000192), [cardiac muscle cell](/details-cell/CL0000746), [tracheobronchial smooth muscle cell](/details-cell/CL0019019), and [vascular associated smooth muscle cell](/details-cell/CL0000359). This strong and consistent signal suggests a fundamental role for [C1QTNF1](/details-gene/114897) in the function and maintenance of muscular and vascular tissues. * **Stromal and Perivascular Cells:** High significance in [hepatic stellate cell](/details-cell/CL0000632), [perivascular cell](/details-cell/CL4033054), [lung pericyte](/details-cell/CL0009089), and fibroblasts ([fibroblast of lung](/details-cell/CL0002553), [skin fibroblast](/details-cell/CL0002620)) points towards a role in tissue architecture, extracellular matrix dynamics, and organ fibrosis. * **Metabolic and Endocrine-Related Cells:** Expression in [adipocyte](/details-cell/CL0000136) is consistent with its established role in metabolic regulation. Furthermore, its presence in [syncytiotrophoblast cell](/details-cell/CL0000525), a key placental cell type with endocrine functions, suggests a potential role in maternal-fetal physiology. The expression pattern suggests [C1QTNF1](/details-gene/114897) is highly specific to mesenchymal and related lineages, with a notable absence of top-ranking immune cells or central nervous system cell types. ## Pathways and Molecular Function The functional annotations for [C1QTNF1](/details-gene/114897) align well with its cellular expression profile. As a secreted protein found in the [extracellular space](/details-cell/GO:0005615), it is positioned to act as a signaling molecule. Its molecular function as a [collagen binding](/details-cell/GO:0005518) protein that can form a [collagen trimer](/details-cell/GO:0005581) is consistent with its C1q/TNF superfamily structure and its potential interaction with the extracellular matrix, which is highly relevant for its role in stromal cells like [hepatic stellate cells](/details-cell/CL0000632) and fibroblasts. Biologically, [C1QTNF1](/details-gene/114897) is implicated in several key processes: * **Metabolic Regulation:** It is involved in the [regulation of glucose metabolic process](/details-cell/GO:0010906), which correlates with its expression in [adipocytes](/details-cell/CL0000136) and its previously described role as an adipokine [Link](https://doi.org/10.1016/j.heliyon.2018.e00647). * **Cell Signaling:** The protein positively regulates key signaling pathways, including the [mapk cascade](/details-cell/GO:0043410) and [phosphatidylinositol 3-kinase/protein kinase b signal transduction](/details-cell/GO:0051897). These pathways are central to cell growth, proliferation, and survival, processes that are critical in the function of [smooth muscle cells](/details-cell/CL0000192) and fibroblasts. * **Hemostasis:** Its role in the [negative regulation of platelet activation](/details-cell/GO:0010544) suggests a function in modulating thrombosis and vascular homeostasis, which is highly relevant given its strong expression in perivascular and smooth muscle cells. * **Ion Homeostasis:** Its involvement in the [positive regulation of cytosolic calcium ion concentration](/details-cell/GO:0007204) is directly related to muscle contraction, providing a molecular basis for its high significance in [cardiac muscle cell](/details-cell/CL0000746) and various smooth muscle subtypes. ## Research Directions The specific expression pattern and known functions of [C1QTNF1](/details-gene/114897) suggest its involvement in several pathological processes, particularly those involving fibrosis and vascular remodeling. Based on the available data, several testable hypotheses can be proposed: 1. Given its high expression in [hepatic stellate cells](/details-cell/CL0000632) and its function in [collagen binding](/details-cell/GO:0005518), [C1QTNF1](/details-gene/114897) likely acts as a key modulator of hepatic stellate cell activation and extracellular matrix deposition during the progression of liver fibrosis. 2. The prominent expression of [C1QTNF1](/details-gene/114897) across multiple [smooth muscle cell](/details-cell/CL0000192) subtypes, combined with its role in regulating calcium signaling ([GO:0007204](https://www.ebi.ac.uk/QuickGO/term/GO:0007204)) and MAPK pathways ([GO:0043410](https://www.ebi.ac.uk/QuickGO/term/GO:0043410)), suggests it may function as a paracrine signaling molecule that contributes to vascular smooth muscle cell proliferation and tone, potentially playing a role in the pathophysiology of hypertension or atherosclerosis. A key experiment to test the first hypothesis would be to investigate the functional impact of [C1QTNF1](/details-gene/114897) on liver fibrosis *in vitro*. Primary human [hepatic stellate cells](/details-cell/CL0000632) could be cultured and treated with recombinant [C1QTNF1](/details-gene/114897) protein or have the gene knocked down using siRNA. The impact on cell activation could be assessed by measuring key fibrotic markers such as alpha-smooth muscle actin (α-SMA) and collagen type I (COL1A1) expression via qPCR and immunofluorescence. Additionally, cell proliferation and migration assays would reveal its effect on the key cellular behaviors that drive fibrosis. As a secreted protein, [C1QTNF1](/details-gene/114897) is an accessible therapeutic target. Its high expression in cell types central to fibrotic diseases (e.g., liver fibrosis, pulmonary fibrosis) and vascular diseases suggests that it could be a target for inhibition. A therapeutic strategy involving a neutralizing monoclonal antibody or a small molecule inhibitor aimed at blocking [C1QTNF1](/details-gene/114897) or its receptor could potentially ameliorate pathological tissue remodeling in these conditions.

Genular Protein ID: 1990355945

Symbol: C1QT1_HUMAN

Name: Complement C1q tumor necrosis factor-related protein 1

UniProtKB Accession Codes:

Q9BXJ1 Q6ZMH6 Q96NF2 Q9GZR4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 8 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 6 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 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: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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

Sequence Information:

  • Length: 281
  • Mass: 31743
  • Checksum: 49E248CB88ACFB7C
  • Sequence:
    • MGSRGQGLLL AYCLLLAFAS GLVLSRVPHV QGEQQEWEGT EELPSPPDHA ERAEEQHEKY 
RPSQDQGLPA SRCLRCCDPG TSMYPATAVP QINITILKGE KGDRGDRGLQ GKYGKTGSAG 
ARGHTGPKGQ KGSMGAPGER CKSHYAAFSV GRKKPMHSNH YYQTVIFDTE FVNLYDHFNM 
FTGKFYCYVP GLYFFSLNVH TWNQKETYLH IMKNEEEVVI LFAQVGDRSI MQSQSLMLEL 
REQDQVWVRL YKGERENAIF SEELDTYITF SGYLVKHATE P

Genular Protein ID: 482579484

Symbol: A0A0C4DFP7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0C4DFP7

Database IDs:

ARBA 2 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 3 GO 1 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 2 SAM 1 SMART 1 SUPFAM 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: 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: 199
  • Mass: 22742
  • Checksum: 453C78D9090E0428
  • Sequence:
    • MYPATAVPQI NITILKGEKG DRGDRGLQGK YGKTGSAGAR GHTGPKGQKG SMGAPGERCK 
SHYAAFSVGR KKPMHSNHYY QTVIFDTEFV NLYDHFNMFT GKFYCYVPGL YFFSLNVHTW 
NQKETYLHIM KNEEEVVILF AQVGDRSIMQ SQSLMLELRE QDQVWVRLYK GERENAIFSE 
ELDTYITFSG YLVKHATEP

Genular Protein ID: 1178235672

Symbol: A0A3B0J271_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A3B0J271

Database IDs:

ARBA 2 AlphaFoldDB 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 1 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 2 SMART 1 SUPFAM 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 30003153

Title: Comparative genomic analysis of eutherian adiponectin genes.

PubMed ID: 30003153

DOI: 10.1016/j.heliyon.2018.e00647

Title: Eutherian third-party data gene collections.

DOI: 10.1016/j.genrep.2019.100414

Sequence Information:

  • Length: 379
  • Mass: 42291
  • Checksum: 2651A9FB7A493717
  • Sequence:
    • MCVECVHVWG LHVCECVCMC VCARECVVSA CMHAWVCESD CPPRSCVTAA FPSGVRLGKH 
LRFPGCFSPQ FSGCFSVQLL PNSVPSLCVS FPPGPGRKMG SRGQGLLLAY CLLLAFASGL 
VLSRVPHVQG EQQEWEGTEE LPSPPDHAER AEEQHEKYRP SQDQGLPASR CLRCCDPGTS 
MYPATAVPQI NITILKGEKG DRGDRGLQGK YGKTGSAGAR GHTGPKGQKG SMGAPGERCK 
SHYAAFSVGR KKPMHSNHYY QTVIFDTEFV NLYDHFNMFT GKFYCYVPGL YFFSLNVHTW 
NQKETYLHIM KNEEEVVILF AQVGDRSIMQ SQSLMLELRE QDQVWVRLYK GERENAIFSE 
ELDTYITFSG YLVKHATEP