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 i... See more...

Aliases for CARTPT Gene

Aliases for CARTPT Gene

  • CART Prepropeptide 2 3 5
  • Cocaine- And Amphetamine-Regulated Transcript Protein 3 4
  • CART 3 4
  • Cocaine And Amphetamine Regulated Transcript 2

External Ids for CARTPT Gene

Previous GeneCards Identifiers for CARTPT Gene

  • GC05P071051
  • GC05P066220

Summaries for CARTPT Gene

Entrez Gene Summary for CARTPT Gene

  • 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]

GeneCards Summary for CARTPT Gene

CARTPT (CART Prepropeptide) is a Protein Coding gene. Diseases associated with CARTPT include Body Mass Index Quantitative Trait Locus 11 and Relapsed/Refractory Diffuse Large B-Cell Lymphoma. Among its related pathways are Circadian rythm related genes and Glucose / Energy Metabolism.

UniProtKB/Swiss-Prot Summary for CARTPT Gene

  • Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro.

Tocris Summary for CARTPT Gene

Additional gene information for CARTPT Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARTPT Gene

Genomics for CARTPT Gene

GeneHancer (GH) Regulatory Elements for CARTPT Gene

Promoters and enhancers for CARTPT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J071719 Promoter 0.7 EPDnew 500.7 +0.1 93 0.1 REST SAP30 HDAC2 MIER1 NCOA1 SIN3A EHMT2 ZNF143 EZH2 ZNF549 CARTPT LOC105379027
GH05J071693 Enhancer 1.3 FANTOM5 Ensembl ENCODE 21.4 -24.5 -24462 2.6 EP300 POLR2G NCOR1 ZIC2 KDM6A TRIM28 TGIF2 ZBTB7A SKI ZBTB26 CARTPT lnc-CARTPT-2 lnc-MCCC2-2
GH05J071698 Enhancer 0.8 Ensembl ENCODE 29.2 -21.2 -21163 0.8 CTCF GABPA RUNX1 HDAC2 TCF12 GATA2 RAD21 ZBTB40 GABPB1 TBP lnc-CARTPT-2 CARTPT lnc-MCCC2-2
GH05J071743 Enhancer 0.6 Ensembl ENCODE 17.4 +24.7 24734 1.4 REST NFIA ZNF766 SCRT2 CARTPT LOC105379027
GH05J071782 Enhancer 1 ENCODE CraniofacialAtlas 10.2 +64.0 64028 1.2 ZBTB40 EP300 CTCF REST RELA MYC RCOR1 RAD21 TRIM22 SMC3 MAP1B CARTPT HSALNG0042549 LOC100422013 LOC105379027
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARTPT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARTPT

Top Transcription factor binding sites by QIAGEN in the CARTPT gene promoter:
  • AhR
  • AP-1
  • Arnt
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • CREB
  • deltaCREB
  • p53
  • STAT1

Genomic Locations for CARTPT Gene

Genomic Locations for CARTPT Gene
chr5:71,719,163-71,721,048
(GRCh38/hg38)
Size:
1,886 bases
Orientation:
Plus strand
chr5:71,014,990-71,016,875
(GRCh37/hg19)
Size:
1,886 bases
Orientation:
Plus strand

Genomic View for CARTPT Gene

Genes around CARTPT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARTPT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARTPT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARTPT Gene

Proteins for CARTPT Gene

  • Protein details for CARTPT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16568-CART_HUMAN
    Recommended name:
    Cocaine- and amphetamine-regulated transcript protein
    Protein Accession:
    Q16568
    Secondary Accessions:
    • Q6FG92

    Protein attributes for CARTPT Gene

    Size:
    116 amino acids
    Molecular mass:
    12829 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CARTPT Gene

neXtProt entry for CARTPT Gene

Post-translational modifications for CARTPT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARTPT Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

  • Abcam proteins for CARTPT

No data available for DME Specific Peptides for CARTPT Gene

Domains & Families for CARTPT Gene

Gene Families for CARTPT Gene

Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted secreted proteins

Protein Domains for CARTPT Gene

Blocks:
  • CART satiety factor
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CARTPT Gene

GenScript: Design optimal peptide antigens:
  • Cocaine- and amphetamine-regulated transcript protein (CART_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16568

UniProtKB/Swiss-Prot:

CART_HUMAN :
  • Belongs to the CART family.
Family:
  • Belongs to the CART family.
genes like me logo Genes that share domains with CARTPT: view

Function for CARTPT Gene

Molecular function for CARTPT Gene

UniProtKB/Swiss-Prot Function:
Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro.
UniProtKB/Swiss-Prot Induction:
By leptin.

Phenotypes From GWAS Catalog for CARTPT Gene

Gene Ontology (GO) - Molecular Function for CARTPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005184 neuropeptide hormone activity IEA --
GO:0005515 protein binding IPI 21982860
genes like me logo Genes that share ontologies with CARTPT: view
genes like me logo Genes that share phenotypes with CARTPT: view

Human Phenotype Ontology for CARTPT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CARTPT Gene

MGI Knock Outs for CARTPT:

Animal Model Products

  • Taconic Biosciences Mouse Models for CARTPT

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARTPT

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CARTPT Gene

Localization for CARTPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARTPT Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARTPT gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for CARTPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space ISS --
GO:0005623 cell IEA --
GO:0030141 secretory granule IDA 21624661
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with CARTPT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CARTPT Gene

Pathways & Interactions for CARTPT Gene

genes like me logo Genes that share pathways with CARTPT: view

Pathways by source for CARTPT Gene

1 BioSystems pathway for CARTPT Gene
2 Cell Signaling Technology pathways for CARTPT Gene

SIGNOR curated interactions for CARTPT Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CARTPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity ISS 15908120
GO:0001678 cellular glucose homeostasis IDA 11711504
GO:0007165 signal transduction TAS 8647455
GO:0007186 G protein-coupled receptor signaling pathway ISS 15908120
GO:0007218 neuropeptide signaling pathway IEA --
genes like me logo Genes that share ontologies with CARTPT: view

Drugs & Compounds for CARTPT Gene

(8) Drugs for CARTPT Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amphetamine Approved, Illicit, Investigational Pharma Target, agonist, antagonist 149
CART (55-102) (rat) Pharma 0
CART (62-76) (rat, human) Pharma 0
Neuropeptide W-23 (human) Pharma Endogenous NPBW1 and NPBW2 receptor agonist 0
Obestatin (rat) Pharma Endogenous reported anorexigenic peptide 0

(3) Additional Compounds for CARTPT Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Neuropeptide S (human)
412938-67-1
Neuropeptide S (Mouse)
412938-74-0
Neuropeptide S (Rat)
412938-75-1

(5) Tocris Compounds for CARTPT Gene

Compound Action Cas Number
Neuropeptide S (human) Potent endogenous neuropeptide S receptor agonist 412938-67-1
Neuropeptide S (Mouse) Potent endogenous neuropeptide S receptor (NPSR) agonist 412938-74-0
Neuropeptide S (Rat) Potent endogenous neuropeptide S receptor agonist 412938-75-1
Neuropeptide W-23 (human) Endogenous NPBW1 and NPBW2 receptor agonist 383415-79-0
Obestatin (rat) Endogenous reported anorexigenic peptide 869705-22-6

(2) ApexBio Compounds for CARTPT Gene

Compound Action Cas Number
CART (55-102) (rat) 209615-79-2
CART (62-76) (rat, human) 210978-19-1
genes like me logo Genes that share compounds with CARTPT: view

Transcripts for CARTPT Gene

mRNA/cDNA for CARTPT Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARTPT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CARTPT Gene

No ASD Table

Relevant External Links for CARTPT Gene

GeneLoc Exon Structure for
CARTPT

Expression for CARTPT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CARTPT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CARTPT Gene

This gene is overexpressed in Brain - Hypothalamus (x19.3), Artery - Aorta (x7.6), and Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for CARTPT Gene

This gene is overexpressed in Breast (46.6), Vitreous humor (7.8), and Colon (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CARTPT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARTPT

SOURCE GeneReport for Unigene cluster for CARTPT Gene:

Hs.1707

mRNA Expression by UniProt/SwissProt for CARTPT Gene:

Q16568-CART_HUMAN
Tissue specificity: Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus.

Evidence on tissue expression from TISSUES for CARTPT Gene

  • Nervous system(4.7)
  • Blood(3)
  • Adrenal gland(2.6)
  • Lymph node(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with CARTPT: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CARTPT Gene

Orthologs for CARTPT Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARTPT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CARTPT 31 30
  • 99.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CARTPT 31 30
  • 92.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cartpt 17 31 30
  • 92.82 (n)
rat
(Rattus norvegicus)
Mammalia Cartpt 30
  • 91.09 (n)
dog
(Canis familiaris)
Mammalia CARTPT 31 30
  • 86.21 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CARTPT 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARTL 31
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CARTPT 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cartpt 30
  • 71.54 (n)
Str.12913 30
zebrafish
(Danio rerio)
Actinopterygii cart2 31
  • 56 (a)
OneToMany
cart1 31
  • 55 (a)
OneToMany
CARTPT (1 of 4) 31
  • 48 (a)
OneToMany
cart4 31
  • 41 (a)
OneToMany
Dr.29627 30
Species where no ortholog for CARTPT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARTPT Gene

ENSEMBL:
Gene Tree for CARTPT (if available)
TreeFam:
Gene Tree for CARTPT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARTPT: view image

Paralogs for CARTPT Gene

No data available for Paralogs for CARTPT Gene

Variants for CARTPT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARTPT Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
718146 Likely Benign: not provided 71,719,387(+) G/A MISSENSE_VARIANT
762928 Likely Benign: not provided 71,720,534(+) G/A SYNONYMOUS_VARIANT
rs121909065 Risk Factor: Obesity. - 71,719,903(+) G/Cp.Leu61Phe MISSENSE_VARIANT
rs12517689 - p.Leu113Met
rs78242624 - p.Ser66Thr

Additional dbSNP identifiers (rs#s) for CARTPT Gene

Structural Variations from Database of Genomic Variants (DGV) for CARTPT Gene

Variant ID Type Subtype PubMed ID
nsv4872 CNV insertion 18451855

Variation tolerance for CARTPT Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CARTPT Gene

Human Gene Mutation Database (HGMD)
CARTPT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARTPT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARTPT Gene

Disorders for CARTPT Gene

MalaCards: The human disease database

(29) MalaCards diseases for CARTPT Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
body mass index quantitative trait locus 11
  • bmiq11
relapsed/refractory diffuse large b-cell lymphoma
fungal meningitis
  • meningitis, fungal
cystoisosporiasis
  • infection by isospora belli and isospora hominis
cocaine abuse
  • cocaine-related disorders
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CARTPT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CARTPT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CARTPT Gene

Publications for CARTPT Gene

  1. Characterization of the human cDNA and genomic DNA encoding CART: a cocaine- and amphetamine-regulated transcript. (PMID: 8647455) Douglass J … Daoud S (Gene 1996) 2 3 4 23 54
  2. The CART gene and human obesity: mutational analysis and population genetics. (PMID: 10905499) Challis BG … O'Rahilly S (Diabetes 2000) 3 4 23 54
  3. Hypothalamic CART is a new anorectic peptide regulated by leptin. (PMID: 9590691) Kristensen P … Hastrup S (Nature 1998) 2 3 4 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41 54

Products for CARTPT Gene

Sources for CARTPT Gene