CARTPT CART prepropeptide [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (71719275..71721045)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (72200597..72202367)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (71015102..71016872)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. 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

STS-U16826 (e-PCR)
- UniSTS:57460

CART (e-PCR)
- UniSTS:479891

WI-19012 (e-PCR)
- UniSTS:7573

D5S2377 (e-PCR)
- UniSTS:7574

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

NG_015988.1 RefSeqGene

Range

5113..6883

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)