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    C1QTNF9 C1q and TNF related 9 [ Homo sapiens (human) ]

    Gene ID: 338872, updated on 16-Apr-2024

    Summary

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    Official Symbol
    C1QTNF9provided by HGNC
    Official Full Name
    C1q and TNF related 9provided by HGNC
    Primary source
    HGNC:HGNC:28732
    See related
    Ensembl:ENSG00000240654 MIM:614285; AllianceGenome:HGNC:28732
    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
    AQL1; CTRP9; C1QTNF9A
    Summary
    Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 1.7), heart (RPKM 1.5) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    13q12.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24307166..24322531)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23514260..23529607)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (24881304..24896669)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 13 Neighboring gene microRNA 2276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7470 Neighboring gene Sharpr-MPRA regulatory region 10151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24797397-24798253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24799112-24799968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24822035-24822534 Neighboring gene conserved acetylation island sequence 9 enhancer Neighboring gene SPATA13 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24855531-24856030 Neighboring gene cell cycle exit and neuronal differentiation protein 1-like Neighboring gene long intergenic non-protein coding RNA 566 Neighboring gene PCOTH pseudogene 1 Neighboring gene cell cycle exit and neuronal differentiation 1 pseudogene 2 Neighboring gene NUS1 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. C1q/tumor necrosis factor-related protein-9 exerts antioxidant and anti-inflammatory effects on oxygen-glucose deprivation/reoxygenation-stimulated neurons by modulating the Akt-GSK-3β-Nrf2 cascade via AdipoR1. Wang J, et al. Int Immunopharmacol, 2023 May. PMID 36996742
    2. Serum CTRP9 and high-molecular weight adiponectin are associated with ischemic stroke. Zhang YQ, et al. BMC Neurol, 2022 Nov 15. PMID 36380279, Free PMC Article
    3. [Association between serum CTRP9 levels and diabetic retinopathy in patients with type 2 diabetes mellitus]. Zhou P, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2021 Mar 25. PMID 33849840, Free PMC Article
    4. Association of serum CTRP9 levels with cardiac autonomic neuropathy in patients with type 2 diabetes mellitus. Yang J, et al. J Diabetes Investig, 2021 Aug. PMID 33417302, Free PMC Article
    5. C1q/TNF-related protein-9 is elevated in hypertension and associated with the occurrence of hypertension-related atherogenesis. Zhou Q, et al. Cell Biol Int, 2021 May. PMID 33377578

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
      Title: Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
    2. CTRP9 alleviates hypoxia/reoxygenation-induced human placental vascular endothelial cells impairment and mitochondrial dysfunction through activating AMPK/Nrf2 signaling.
      Title: CTRP9 alleviates hypoxia/reoxygenation-induced human placental vascular endothelial cells impairment and mitochondrial dysfunction through activating AMPK/Nrf2 signaling.
    3. Association Between Circulating Levels of C1q/TNF-Related Protein-9 and Type 2 Diabetes Mellitus: A Systematic Review and Meta-analysis.
      Title: Association Between Circulating Levels of C1q/TNF-Related Protein-9 and Type 2 Diabetes Mellitus: A Systematic Review and Meta-analysis.
    4. C1q/tumor necrosis factor-related protein-9 exerts antioxidant and anti-inflammatory effects on oxygen-glucose deprivation/reoxygenation-stimulated neurons by modulating the Akt-GSK-3beta-Nrf2 cascade via AdipoR1.
      Title: C1q/tumor necrosis factor-related protein-9 exerts antioxidant and anti-inflammatory effects on oxygen-glucose deprivation/reoxygenation-stimulated neurons by modulating the Akt-GSK-3β-Nrf2 cascade via AdipoR1.
    5. Increased Levels of ANGPTL3 and CTRP9 in Patients With Obstructive Sleep Apnea and Their Relation to Insulin Resistance and Lipid Metabolism and Markers of Endothelial Dysfunction.
      Title: Increased Levels of ANGPTL3 and CTRP9 in Patients With Obstructive Sleep Apnea and Their Relation to Insulin Resistance and Lipid Metabolism and Markers of Endothelial Dysfunction.
    6. Serum CTRP9 and high-molecular weight adiponectin are associated with ischemic stroke.
      Title: Serum CTRP9 and high-molecular weight adiponectin are associated with ischemic stroke.
    7. 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.
    8. the long-term existence of beta1- AA mAb suppresses cardiac CTRP 9 expression and exaggerates cardiac remodeling, suggesting that CTRP 9 may be a novel therapeutic target against pathologic remodeling in beta1- AA -positive patients with coronary heart disease
      Title: Autoantibodies Against β(1)-Adrenoceptor Exaggerated Ventricular Remodeling by Inhibiting CTRP9 Expression.
    9. Association of C1q/TNF-Related Protein-9 (CTRP9) Level with Obstructive Sleep Apnea in Patients with Coronary Artery Disease.
      Title: Association of C1q/TNF-Related Protein-9 (CTRP9) Level with Obstructive Sleep Apnea in Patients with Coronary Artery Disease.
    10. Association of serum CTRP9 levels with cardiac autonomic neuropathy in patients with type 2 diabetes mellitus.
      Title: Association of serum CTRP9 levels with cardiac autonomic neuropathy in patients with type 2 diabetes mellitus.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC48915

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    complement C1q and tumor necrosis factor-related protein 9A
    Names
    C1q and tumor necrosis factor related protein 9
    complement C1q and tumor necrosis factor-related protein 9
    complement C1q tumor necrosis factor-related protein 9
    complement C1q tumor necrosis factor-related protein 9A

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001303137.2 → NP_001290066.1  complement C1q and tumor necrosis factor-related protein 9A precursor

      See identical proteins and their annotated locations for NP_001290066.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL359736, BC040438, BI767787, BQ882976
      Consensus CDS
      CCDS9306.1
      UniProtKB/Swiss-Prot
      A2A3T6, P0C862, Q0VGC5, Q5VX65, Q5VX66, Q8IUU4
      UniProtKB/TrEMBL
      A0A3B0ISS0, A0A3B0J259
      Conserved Domains (2) summary
      PHA03169
      Location:41 → 176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203 → 329
      C1q; C1q domain

    2. NM_001303138.2 → NP_001290067.1  complement C1q and tumor necrosis factor-related protein 9A precursor

      See identical proteins and their annotated locations for NP_001290067.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL359736, BC040438, BI767787
      Consensus CDS
      CCDS9306.1
      UniProtKB/Swiss-Prot
      A2A3T6, P0C862, Q0VGC5, Q5VX65, Q5VX66, Q8IUU4
      UniProtKB/TrEMBL
      A0A3B0ISS0, A0A3B0J259
      Related
      ENSP00000371503.2, ENST00000382071.6
      Conserved Domains (2) summary
      PHA03169
      Location:41 → 176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203 → 329
      C1q; C1q domain

    3. NM_178540.5 → NP_848635.2  complement C1q and tumor necrosis factor-related protein 9A precursor

      See identical proteins and their annotated locations for NP_848635.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL359736, BC040438, BI767787
      Consensus CDS
      CCDS9306.1
      UniProtKB/Swiss-Prot
      A2A3T6, P0C862, Q0VGC5, Q5VX65, Q5VX66, Q8IUU4
      UniProtKB/TrEMBL
      A0A3B0ISS0, A0A3B0J259
      Related
      ENSP00000333737.4, ENST00000332018.5
      Conserved Domains (2) summary
      PHA03169
      Location:41 → 176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203 → 329
      C1q; C1q domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      24307166..24322531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      23514260..23529607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C862.1 GenPept UniProtKB/Swiss-Prot:P0C862

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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