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    CTF1 cardiotrophin 1 [ Homo sapiens (human) ]

    Gene ID: 1489, updated on 5-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    16p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30895846..30903560)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31283287..31291024)
    105.20220307 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    Preferred Names
    cardiotrophin-1
    Names
    cardiophin 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_009171.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001142544.3NP_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_001330.5NP_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_2023_10

    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_011545759.3XP_011544061.1  cardiotrophin-1 isoform X1

    2. XM_011545760.3XP_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_054379691.1XP_054235666.1  cardiotrophin-1 isoform X1

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