CTF1 cardiotrophin 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70630 (e-PCR)
- UniSTS:87307

RH69935 (e-PCR)
- UniSTS:91786

D16S3338 (e-PCR)
- UniSTS:30176

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

NG_009171.1 RefSeqGene

Range

5001..11954

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_408

mRNA and Protein(s)

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
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