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CARTPT CART prepropeptide [ Homo sapiens (human) ]

Gene ID: 9607, updated on 17-Sep-2024

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
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Genomic context

See CARTPT in Genome Data Viewer
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_000005.10Genomic 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

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 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

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_004291.4NP_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:48116
    CART; Cocaine and amphetamine regulated transcript protein (CART)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)