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    C1QTNF1 C1q and TNF related 1 [ Homo sapiens (human) ]

    Gene ID: 114897, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1QTNF1provided by HGNC
    Official Full Name
    C1q and TNF related 1provided by HGNC
    Primary source
    HGNC:HGNC:14324
    See related
    Ensembl:ENSG00000173918 MIM:610365; AllianceGenome:HGNC:14324
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GIP; CTRP1; ZSIG37
    Summary
    Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in fat (RPKM 33.8), placenta (RPKM 15.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1QTNF1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79022934..79049788)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79917861..79944721)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77019016..77045870)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76972258-76972941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76976039-76977031 Neighboring gene galectin 3 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9078 Neighboring gene C1QTNF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77040047-77040547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 Neighboring gene calcium activated nucleotidase 1 Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77094193-77094906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77099175-77100160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77112846-77113750 Neighboring gene endo-beta-N-acetylglucosaminidase Neighboring gene RNA binding fox-1 homolog 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77157651-77158151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77173286-77173965 Neighboring gene uncharacterized LOC124904069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77179359-77180239

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. CTRP1: A novel player in cardiovascular and metabolic diseases. Wang Y, et al. Cytokine, 2023 Apr. PMID 36812667
    2. An intracellular role for the C1q-globular domain. Innamorati G, et al. Cell Signal, 2006 Jun. PMID 16386877
    3. Development of a novel enzyme-linked immunosorbent assay (ELISA) for measurement of serum CTRP1: a pilot study: measurement of serum CTRP1 in healthy donors and patients with metabolic syndrome. Chalupova L, et al. Clin Biochem, 2013 Jan. PMID 23000311
    4. Circulating complement-C1q TNF-related protein 1 levels are increased in patients with type 2 diabetes and are associated with insulin sensitivity in Chinese subjects. Pan X, et al. PLoS One, 2014. PMID 24827430, Free PMC Article
    5. Association of circulating C1q/TNF-related protein 1 levels with coronary artery disease in men. Yuasa D, et al. PLoS One, 2014. PMID 24945145, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The association between complement C1q tumour necrosis factor-related protein-1 (CTRP-1) level and metabolic syndrome.
      Title: The association between complement C1q tumour necrosis factor-related protein-1 (CTRP-1) level and metabolic syndrome.
    2. CTRP1: A novel player in cardiovascular and metabolic diseases.
      Title: CTRP1: A novel player in cardiovascular and metabolic diseases.
    3. CTRP1 prevents high fat diet-induced obesity and improves glucose homeostasis in obese and STZ-induced diabetic mice.
      Title: CTRP1 prevents high fat diet-induced obesity and improves glucose homeostasis in obese and STZ-induced diabetic mice.
    4. Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis.
      Title: Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis.
    5. C1q Tumor Necrosis Factor-Related Protein 1: A Promising Therapeutic Target for Atherosclerosis.
      Title: C1q Tumor Necrosis Factor-Related Protein 1: A Promising Therapeutic Target for Atherosclerosis.
    6. C1q/TNF-related protein-1: Potential biomarker for early diagnosis of autism spectrum disorder.
      Title: C1q/TNF-related protein-1: Potential biomarker for early diagnosis of autism spectrum disorder.
    7. CTRP1 decreases ABCA1 expression and promotes lipid accumulation through the miR-424-5p/FoxO1 pathway in THP-1 macrophage-derived foam cells.
      Title: CTRP1 decreases ABCA1 expression and promotes lipid accumulation through the miR-424-5p/FoxO1 pathway in THP-1 macrophage-derived foam cells.
    8. Hypomethylation of C1q/tumor necrosis factor-related protein-1 promoter region in whole blood and risks for coronary artery aneurysms in Kawasaki disease.
      Title: Hypomethylation of C1q/tumor necrosis factor-related protein-1 promoter region in whole blood and risks for coronary artery aneurysms in Kawasaki disease.
    9. CTRP-1 levels are related to insulin resistance in pregnancy and gestational diabetes mellitus.
      Title: CTRP-1 levels are related to insulin resistance in pregnancy and gestational diabetes mellitus.
    10. Methylation of CpG sites in C1QTNF1 (C1q and tumor necrosis factor related protein 1) differs by gender in acute coronary syndrome in Han population: a case-control study.
      Title: Methylation of CpG sites in C1QTNF1 (C1q and tumor necrosis factor related protein 1) differs by gender in acute coronary syndrome in Han population: a case-control study.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of C1q and tumor necrosis factor related protein 1 (C1QTNF1) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90694

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of platelet activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of platelet aggregation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of aldosterone secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement C1q tumor necrosis factor-related protein 1
    Names
    C1q and tumor necrosis factor related protein 1
    G protein coupled receptor interacting protein
    g protein-coupled receptor-interacting protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_030968.5 → NP_112230.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_112230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC073624, AY358424
      Consensus CDS
      CCDS11761.1
      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Related
      ENSP00000463922.1, ENST00000579760.6
      Conserved Domains (2) summary
      pfam01391
      Location:99 → 140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147 → 275
      C1q; C1q domain

    2. NM_153372.3 → NP_699203.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_699203.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC073624, AY358424, DA877694
      Consensus CDS
      CCDS11761.1
      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Related
      ENSP00000343230.4, ENST00000354124.7
      Conserved Domains (2) summary
      pfam01391
      Location:99 → 140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147 → 275
      C1q; C1q domain

    3. NM_198593.4 → NP_940995.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_940995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AY358424, DB126803
      Consensus CDS
      CCDS11761.1
      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Related
      ENSP00000462481.2, ENST00000581774.5
      Conserved Domains (2) summary
      pfam01391
      Location:99 → 140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147 → 275
      C1q; C1q domain

    4. NM_198594.4 → NP_940996.1  complement C1q tumor necrosis factor-related protein 1 isoform 2

      See identical proteins and their annotated locations for NP_940996.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region, compared to variant 1, which results in the use of an in-frame downstream start codon. This variant encodes a protein (isoform 2) with a shorter N-terminus that is predicted to lack a signal peptide, compared to isoform 1.
      Source sequence(s)
      AY358424, BC021553, DA938689, HY047084
      Consensus CDS
      CCDS11762.1
      UniProtKB/TrEMBL
      A0A0C4DFP7
      Related
      ENSP00000311265.4, ENST00000311661.4
      Conserved Domains (2) summary
      pfam01391
      Location:17 → 58
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:65 → 193
      C1q; C1q domain

    RNA

    1. NR_049769.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073624, AK292034, AY358424, DA875119

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      79022934..79049788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435297.1 → XP_047291253.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9

    2. XM_047435296.1 → XP_047291252.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9

    3. XM_006721664.2 → XP_006721727.1  complement C1q tumor necrosis factor-related protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K7L9
      Conserved Domains (2) summary
      pfam01391
      Location:148 → 189
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:196 → 324
      C1q; C1q domain

    4. XM_024450561.2 → XP_024306329.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Conserved Domains (2) summary
      pfam01391
      Location:99 → 140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147 → 275
      C1q; C1q domain

    5. XM_047435295.1 → XP_047291251.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9

    6. XM_006721666.2 → XP_006721729.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006721729.1

      UniProtKB/TrEMBL
      A8K7L9
      Conserved Domains (2) summary
      pfam01391
      Location:109 → 150
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:157 → 285
      C1q; C1q domain

    7. XM_006721663.1 → XP_006721726.1  complement C1q tumor necrosis factor-related protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006721726.1

      UniProtKB/TrEMBL
      A0A3B0J271
      Conserved Domains (2) summary
      pfam01391
      Location:197 → 238
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:245 → 373
      C1q; C1q domain

    8. XM_017024126.1 → XP_016879615.1  complement C1q tumor necrosis factor-related protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DFP7
      Conserved Domains (2) summary
      pfam01391
      Location:17 → 58
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:65 → 193
      C1q; C1q domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79917861..79944721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314952.1 → XP_054170927.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9

    2. XM_054314951.1 → XP_054170926.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9

    3. XM_054314949.1 → XP_054170924.1  complement C1q tumor necrosis factor-related protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K7L9

    4. XM_054314953.1 → XP_054170928.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9

    5. XM_054314950.1 → XP_054170925.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9

    6. XM_054314948.1 → XP_054170923.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9

    7. XM_054314947.1 → XP_054170922.1  complement C1q tumor necrosis factor-related protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B0J271

    8. XM_054314954.1 → XP_054170929.1  complement C1q tumor necrosis factor-related protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DFP7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXJ1.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ1

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