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    CTF1 cardiotrophin 1 [ Homo sapiens (human) ]

    Gene ID: 1489, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CTF1provided by HGNC
    Official Full Name
    cardiotrophin 1provided by HGNC
    Primary source
    HGNC:HGNC:2499
    See related
    Ensembl:ENSG00000150281 MIM:600435; AllianceGenome:HGNC:2499
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT1; CT-1
    Summary
    The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
    Expression
    Broad expression in ovary (RPKM 6.4), heart (RPKM 3.8) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CTF1 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30895846..30903560)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31283287..31291024)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30907935..30914881)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene BAF chromatin remodeling complex subunit BCL7C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886065-30886819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886820-30887574 Neighboring gene MIR762 host gene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30893961-30894461 Neighboring gene microRNA 4519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7398 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30898777-30899278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30904355-30904987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30906599-30907104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30907105-30907608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7400 Neighboring gene microRNA 762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915408-30915908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915909-30916409 Neighboring gene cardiotrophin 2, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chr16:30932963-30933931 and GRCh37_chr16:30933932-30934899 Neighboring gene FBXL19 antisense RNA 1 Neighboring gene F-box and leucine rich repeat protein 19

    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 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. Association between cardiotrophin 1 levels and central blood pressure in untreated patients with essential hypertension. Gkaliagkousi E, et al. Am J Hypertens, 2014 May. PMID 24401751
    2. Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing. Esnault G, et al. Mol Cell Biol, 2009 May. PMID 19273604, Free PMC Article
    3. Association of plasma cardiotrophin-1 with stage C heart failure in hypertensive patients: potential diagnostic implications. López B, et al. J Hypertens, 2009 Feb. PMID 19155793
    4. Protective effect of the 1742(C/G) polymorphism of human cardiotrophin-1 against left ventricular hypertrophy in essential hypertension. Robador PA, et al. J Hypertens, 2010 Nov. PMID 20683337
    5. Role of myosin light chain kinase in cardiotrophin-1-induced cardiac myofibroblast cell migration. Freed DH, et al. Am J Physiol Heart Circ Physiol, 2011 Aug. PMID 21572008

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigation of maternal serum cardiotrophin-1 concentrations in pregnant women with preeclampsia; a prospective case-control study.
      Title: Investigation of maternal serum cardiotrophin-1 concentrations in pregnant women with preeclampsia; a prospective case-control study.
    2. Osteoprotegerin, Chitinase 3-like Protein 1, and Cardiotrophin-1 as Potential Biomarkers of Obstructive Sleep Apnea in Adults-A Case-Control Study.
      Title: Osteoprotegerin, Chitinase 3-like Protein 1, and Cardiotrophin-1 as Potential Biomarkers of Obstructive Sleep Apnea in Adults-A Case-Control Study.
    3. Tumor-derived CTF1 (cardiotrophin 1) is a critical mediator of stroma-assisted and autophagy-dependent breast cancer cell migration, invasion and metastasis.
      Title: Tumor-derived CTF1 (cardiotrophin 1) is a critical mediator of stroma-assisted and autophagy-dependent breast cancer cell migration, invasion and metastasis.
    4. A quantitative detection of Cardiotrophin-1 in chronic heart failure by chemiluminescence immunoassay.
      Title: A quantitative detection of Cardiotrophin-1 in chronic heart failure by chemiluminescence immunoassay.
    5. CT-1 may be considered as an additional sensitive and specific prognostic marker complementary to the conventional markers such as NT-proBNP, usable in the stratification of the adverse cardiac events risk in patients with symptomatic, systolic heart failure
      Title: Cardiotrophin as a prognostic factor in heart failure.
    6. study indicates that variations in dietary salt intake affect the serum Cardiotrophin-1 levels in Chinese adults.
      Title: Effect of Salt Intake on the Serum Cardiotrophin-1 Levels in Chinese Adults.
    7. Data suggest that, in children with pediatric obesity, lifestyle weight-loss intervention results in down-regulation of serum cardiotrophin-1 (CTF1), interleukin-6 (IL6), and tumor necrosis factor-alpha (TNFA); expression of CTF1, IL6, and TNFA is also down-regulated in peripheral blood mononuclear cells after improvement in adiposity, body mass index, and waist-hip ratio.
      Title: Serum and gene expression levels of CT-1, IL-6, and TNF-α after a lifestyle intervention in obese children.
    8. Cardiotrophin-1 levels were not an independent predictor of all-cause mortality in hemodialysis patients.
      Title: Predictive Value for Galectin 3 and Cardiotrophin 1 in Hemodialysis Patients.
    9. We identify the cytokine cardiotrophin 1 (CT1) as a factor capable of recapitulating the key features of physiologic growth of the heart including transient and reversible hypertrophy of the myocardium, and stimulation of cardiomyocyte-derived angiogenic signals leading to increased vascularity
      Title: Cardiotrophin 1 stimulates beneficial myogenic and vascular remodeling of the heart.
    10. a transcriptional factor, Myc-associated zinc finger protein (MAZ), plays an important role in ADAM10 transcription in response to CT-1 in neural stem/progenitor cells.
      Title: MAZ mediates the cross-talk between CT-1 and NOTCH1 signaling during gliogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables leukemia inhibitory factor receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cardiotrophin-1
    Names
    cardiophin 1

    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.

    Genomic

    1. NG_009171.1 RefSeqGene

      Range
      5001..11954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_408

    mRNA and Protein(s)

    1. NM_001142544.3 → NP_001136016.1  cardiotrophin-1 isoform 2

      See identical proteins and their annotated locations for NP_001136016.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of a coding exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is one aa shorter compared to isoform 1.
      Source sequence(s)
      AC135048
      Consensus CDS
      CCDS45464.1
      UniProtKB/Swiss-Prot
      Q16619
      Related
      ENSP00000378465.3, ENST00000395019.3

    2. NM_001330.5 → NP_001321.1  cardiotrophin-1 isoform 1

      See identical proteins and their annotated locations for NP_001321.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC135048
      Consensus CDS
      CCDS10694.1
      UniProtKB/Swiss-Prot
      A8MVX4, Q16619, Q5U5Y7
      Related
      ENSP00000279804.2, ENST00000279804.3

    RNA

    1. NR_165660.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC135048

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30895846..30903560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545759.3 → XP_011544061.1  cardiotrophin-1 isoform X1

    2. XM_011545760.3 → XP_011544062.1  cardiotrophin-1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31283287..31291024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379691.1 → XP_054235666.1  cardiotrophin-1 isoform X1

    2. XM_054379692.1 → XP_054235667.1  cardiotrophin-1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16619.1 GenPept UniProtKB/Swiss-Prot:Q16619

    Gene LinkOut

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

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