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CARTPT CART prepropeptide [ Homo sapiens (human) ]

Gene ID: 9607, updated on 5-Mar-2024

Summary

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Official Symbol
CARTPTprovided by HGNC
Official Full Name
CART prepropeptideprovided by HGNC
Primary source
HGNC:HGNC:24323
See related
Ensembl:ENSG00000164326 MIM:602606; AllianceGenome:HGNC:24323
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
CART
Summary
This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans. [provided by RefSeq, Feb 2016]
Expression
Biased expression in adrenal (RPKM 51.3), brain (RPKM 5.7) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
5q13.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71719275..71721045)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (72200597..72202367)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (71015102..71016872)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70882826-70883612 Neighboring gene methylcrotonyl-CoA carboxylase subunit 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:71015240-71016126 Neighboring gene catenin beta 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1504 Neighboring gene Sharpr-MPRA regulatory region 1479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16078 Neighboring gene uncharacterized LOC105379027

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. Dietary glycemic index and glycemic load mediate the effect of CARTPT rs2239670 gene polymorphism on metabolic syndrome and metabolic risk factors among adults with obesity. Khodarahmi M, et al. BMC Endocr Disord, 2022 Nov 21. PMID 36404325, Free PMC Article
  2. Hypothalamic-pituitary hormones will be affected by the interaction between 5q13-14-rs2239670 (CARTPT) gene variants and diet in different obesity phenotypes. Mahmoudinezhad M, et al. BMC Res Notes, 2021 Dec 7. PMID 34876220, Free PMC Article
  3. Cocaine and amphetamine-regulated transcript prepropeptide gene (CARTPT) polymorphism interacts with Diet Quality Index-International (DQI-I) and Healthy Eating Index (HEI) to affect hypothalamic hormones and cardio-metabolic risk factors among obese individuals. Mahmoudi-Nezhad M, et al. J Transl Med, 2020 Jan 9. PMID 31918705, Free PMC Article
  4. Changes in the Distribution of Cocaine- and Amphetamine-Regulated Transcript-Containing Neural Structures in the Human Colon Affected by the Neoplastic Process. Oponowicz A, et al. Int J Mol Sci, 2018 Jan 31. PMID 29385033, Free PMC Article
  5. Neurochemical evidence that cocaine- and amphetamine-regulated transcript (CART) 55-102 peptide modulates the dopaminergic reward system by decreasing the dopamine release in the mouse nucleus accumbens. Rakovska A, et al. Brain Res Bull, 2017 Sep. PMID 28802898

See all (85) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cocaine and amphetamine regulated transcript (CART): a newly characterized neuropeptide in human prostate.
    Title: Cocaine and amphetamine regulated transcript (CART): a newly characterized neuropeptide in human prostate.
  2. Dietary glycemic index and glycemic load mediate the effect of CARTPT rs2239670 gene polymorphism on metabolic syndrome and metabolic risk factors among adults with obesity.
    Title: Dietary glycemic index and glycemic load mediate the effect of CARTPT rs2239670 gene polymorphism on metabolic syndrome and metabolic risk factors among adults with obesity.
  3. Demystifying functional role of cocaine- and amphetamine-related transcript (CART) peptide in control of energy homeostasis: A twenty-five year expedition.
    Title: Demystifying functional role of cocaine- and amphetamine-related transcript (CART) peptide in control of energy homeostasis: A twenty-five year expedition.
  4. Hypothalamic-pituitary hormones will be affected by the interaction between 5q13-14-rs2239670 (CARTPT) gene variants and diet in different obesity phenotypes.
    Title: Hypothalamic-pituitary hormones will be affected by the interaction between 5q13-14-rs2239670 (CARTPT) gene variants and diet in different obesity phenotypes.
  5. Nucleobindin 2/nesfatin-1 expression and colocalisation with neuropeptide Y and cocaine- and amphetamine-regulated transcript in the human brainstem.
    Title: Nucleobindin 2/nesfatin-1 expression and colocalisation with neuropeptide Y and cocaine- and amphetamine-regulated transcript in the human brainstem.
  6. Overcoming Stress, Hunger, and Pain: Cocaine- and Amphetamine-Regulated Transcript Peptide's Promise.
    Title: Overcoming Stress, Hunger, and Pain: Cocaine- and Amphetamine-Regulated Transcript Peptide's Promise.
  7. Cocaine and amphetamine-regulated transcript prepropeptide gene (CARTPT) polymorphism interacts with Diet Quality Index-International (DQI-I) and Healthy Eating Index (HEI) to affect hypothalamic hormones and cardio-metabolic risk factors among obese individuals.
    Title: Cocaine and amphetamine-regulated transcript prepropeptide gene (CARTPT) polymorphism interacts with Diet Quality Index-International (DQI-I) and Healthy Eating Index (HEI) to affect hypothalamic hormones and cardio-metabolic risk factors among obese individuals.
  8. CART expression was found in glucose-dependent insulinotropic polypeptide (GIP)-producing K-cells and glucagon-like peptide-1 (GLP-1)-producing L-cells in human duodenum and jejunum.
    Title: Intestinal CART is a regulator of GIP and GLP-1 secretion and expression.
  9. Studied use of cocaine- and amphetamine-regulated transcript protein (CART) and brain derived neurotrophic factor (BDNF) as biomarkers for obesity in a follow up cohort after gastric bypass for morbid obesity.
    Title: Cocaine and amphetamine regulated transcript and brain-derived neurotrophic factor in morbid obesity. One-year follow-up after gastric bypass.
  10. Tumor into the stomach wall caused a decrease in the number of CART-positive (+) nerve fibers in the longitudinal (LML) and circular muscle layers (CML).
    Title: Distribution Patterns of Cocaine- and Amphetamine-Regulated Transcript- and/or Galanin-Containing Neurons and Nerve Fibers Located in the Human Stomach Wall Affected by Tumor.
Submit: New GeneRIF Correction See all GeneRIFs (54)

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

Associated conditions

Description Tests
Inherited obesity
MedGen: C4054476 OMIM: 601665 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
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 molecular_function ND
No biological Data available
more info
  
enables neuropeptide hormone activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in adult feeding behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to starvation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular glucose homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of appetite IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of appetite ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of appetite TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of bone resorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of glucagon secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of osteoclast differentiation TAS
Traceable Author Statement
more info
 PubMed 
involved_in neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of blood pressure IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of epinephrine secretion IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of positive regulation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of transmission of nerve impulse IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in somatostatin secretion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in secretory granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cocaine- and amphetamine-regulated transcript 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.

Genomic

  1. NG_015988.1 RefSeqGene

    Range
    5113..6883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004291.4 → NP_004282.1  cocaine- and amphetamine-regulated transcript protein preproprotein

    See identical proteins and their annotated locations for NP_004282.1

    Status: REVIEWED

    Source sequence(s)
    AI417979, BC029882
    Consensus CDS
    CCDS4011.1
    UniProtKB/Swiss-Prot
    Q16568, Q6FG92
    Related
    ENSP00000296777.4, ENST00000296777.5
    Conserved Domains (1) summary
    pfam06373
    Location:48 → 116
    CART; Cocaine and amphetamine regulated transcript protein (CART)

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    71719275..71721045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    72200597..72202367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16568.1 GenPept UniProtKB/Swiss-Prot:Q16568

Gene LinkOut

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