CARTPT (CART prepropeptide) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: CARTPT (CART prepropeptide) Homo sapiens
Analyze
Symbol: CARTPT
Name: CART prepropeptide
RGD ID: 1605714
HGNC Page HGNC:24323
Description: Predicted to enable neuropeptide hormone activity. Involved in several processes, including negative regulation of bone resorption; positive regulation of epinephrine secretion; and positive regulation of transmission of nerve impulse. Located in extracellular space and secretory granule. Implicated in obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CART; cocaine and amphetamine regulated transcript; cocaine- and amphetamine-regulated transcript protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38571,719,275 - 71,721,045 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl571,719,275 - 71,721,048 (+)EnsemblGRCh38hg38GRCh38
GRCh37571,015,102 - 71,016,872 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36571,050,750 - 71,052,628 (+)NCBINCBI36Build 36hg18NCBI36
Celera566,910,678 - 66,912,563 (+)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef566,220,931 - 66,222,816 (+)NCBIHuRef
CHM1_1570,447,686 - 70,449,571 (+)NCBICHM1_1
T2T-CHM13v2.0572,200,597 - 72,202,367 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(3,4-dihydroxyphenyl)acetic acid  (ISO)
(S)-nicotine  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-naphthylamine  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
alpha-melanocyte stimulating hormone  (ISO)
AM-251  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
Butylparaben  (ISO)
C60 fullerene  (ISO)
carbonyl sulfide  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (EXP,ISO)
clozapine  (ISO)
cocaine  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
DDE  (ISO)
dichlorine  (ISO)
diprotium oxide  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
ethanol  (ISO)
fluoxetine  (ISO)
fonofos  (EXP)
fructose  (ISO)
Glutathione ethyl ester  (ISO)
glycidol  (ISO)
hydrogen sulfide  (ISO)
icariin  (ISO)
KT 5720  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
malathion  (EXP)
methylmercury chloride  (EXP)
morphine  (ISO)
nicotine  (EXP,ISO)
nitroprusside  (ISO)
ozone  (ISO)
paracetamol  (ISO)
parathion  (EXP)
PCB138  (ISO)
pirinixic acid  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
scopolamine  (ISO)
Soman  (ISO)
streptozocin  (ISO)
terbufos  (EXP)
triphenyl phosphate  (ISO)
water  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family. del Giudice EM, etal., Diabetes. 2001 Sep;50(9):2157-60.
2. Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity. Echwald SM, etal., Obes Res. 1999 Nov;7(6):532-6.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. A polymorphism in the gene encoding CART is not associated with obesity in Pima Indians. Walder K, etal., Int J Obes Relat Metab Disord. 2000 Apr;24(4):520-1.
7. CART regulates islet hormone secretion and is expressed in the beta-cells of type 2 diabetic rats. Wierup N, etal., Diabetes. 2006 Feb;55(2):305-11.
Additional References at PubMed
PMID:8647455   PMID:8889548   PMID:9590691   PMID:10235641   PMID:10905499   PMID:11478874   PMID:11711504   PMID:11791158   PMID:11857741   PMID:12147208   PMID:12477932   PMID:12654232  
PMID:15234472   PMID:15326462   PMID:15340161   PMID:15489334   PMID:15597110   PMID:15680948   PMID:15823203   PMID:15908120   PMID:16102267   PMID:16146347   PMID:16210370   PMID:16309793  
PMID:16614075   PMID:16784796   PMID:17008116   PMID:17105939   PMID:17525122   PMID:17631364   PMID:17634068   PMID:18572320   PMID:19058789   PMID:19077438   PMID:19086053   PMID:19110485  
PMID:19356602   PMID:19874574   PMID:19876004   PMID:19913121   PMID:20151954   PMID:20186155   PMID:20362026   PMID:20468064   PMID:20628086   PMID:21605873   PMID:21624661   PMID:21803054  
PMID:21832817   PMID:21873635   PMID:21921635   PMID:21982860   PMID:22139072   PMID:22235287   PMID:22257587   PMID:22332848   PMID:22436349   PMID:22553341   PMID:23034261   PMID:23086924  
PMID:23277430   PMID:23646285   PMID:24564533   PMID:24995854   PMID:25084101   PMID:25219614   PMID:25352770   PMID:25871004   PMID:26730935   PMID:27338624   PMID:28802898   PMID:29275211  
PMID:29385033   PMID:29627317   PMID:30274741   PMID:30373200   PMID:31918705   PMID:32296183   PMID:32902020   PMID:33757831   PMID:33961781   PMID:34043767   PMID:34876220   PMID:36404325  
PMID:37615074  


Genomics

Comparative Map Data
CARTPT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38571,719,275 - 71,721,045 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl571,719,275 - 71,721,048 (+)EnsemblGRCh38hg38GRCh38
GRCh37571,015,102 - 71,016,872 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36571,050,750 - 71,052,628 (+)NCBINCBI36Build 36hg18NCBI36
Celera566,910,678 - 66,912,563 (+)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef566,220,931 - 66,222,816 (+)NCBIHuRef
CHM1_1570,447,686 - 70,449,571 (+)NCBICHM1_1
T2T-CHM13v2.0572,200,597 - 72,202,367 (+)NCBIT2T-CHM13v2.0
Cartpt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913100,034,991 - 100,037,191 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13100,034,997 - 100,037,599 (-)EnsemblGRCm39 Ensembl
GRCm381399,898,483 - 99,910,179 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1399,898,489 - 99,901,091 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713100,668,439 - 100,670,638 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613100,998,914 - 101,000,892 (-)NCBIMGSCv36mm8
Celera13103,550,272 - 103,552,922 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1352.9NCBI
Cartpt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8232,989,215 - 32,991,794 (-)NCBIGRCr8
mRatBN7.2231,255,098 - 31,257,452 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl231,255,098 - 31,290,713 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx238,333,324 - 38,335,346 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0236,427,667 - 36,429,691 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0231,220,463 - 31,222,481 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0230,125,249 - 30,127,408 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl230,125,249 - 30,127,269 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0249,285,118 - 49,287,405 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4230,889,817 - 30,891,837 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1230,810,185 - 30,812,206 (-)NCBI
Celera227,276,402 - 27,278,422 (-)NCBICelera
Cytogenetic Map2q12NCBI
Cartpt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955575551,991 - 555,149 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955575551,991 - 555,118 (+)NCBIChiLan1.0ChiLan1.0
CARTPT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2443,593,184 - 43,595,366 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1541,746,812 - 41,748,989 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0543,591,683 - 43,593,586 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1544,236,114 - 44,238,229 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl544,236,114 - 44,238,229 (-)Ensemblpanpan1.1panPan2
CARTPT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1254,865,043 - 54,867,410 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl254,865,298 - 54,867,158 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha251,831,747 - 51,833,904 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0255,380,658 - 55,382,812 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl255,380,662 - 55,382,560 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1252,441,398 - 52,443,555 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0253,208,304 - 53,210,460 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0254,099,675 - 54,101,833 (+)NCBIUU_Cfam_GSD_1.0
Cartpt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213186,139,406 - 186,141,636 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365494,717,771 - 4,719,395 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365494,717,337 - 4,719,523 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CARTPT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1648,043,492 - 48,045,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11648,043,558 - 48,045,592 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21651,989,808 - 51,991,843 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CARTPT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1466,058,755 - 66,060,635 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl466,058,769 - 66,061,112 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604914,805,312 - 14,807,192 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cartpt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624905751,223 - 752,845 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624905751,032 - 753,012 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CARTPT
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) single nucleotide variant Obesity [RCV000023199] Chr5:71719903 [GRCh38]
Chr5:71015730 [GRCh37]
Chr5:5q13.2		 risk factor|uncertain significance
GRCh38/hg38 5q13.2(chr5:71620401-71725140)x1 copy number loss See cases [RCV000054136] Chr5:71620401..71725140 [GRCh38]
Chr5:70916228..71020967 [GRCh37]
Chr5:70951984..71056723 [NCBI36]
Chr5:5q13.2		 uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NC_000005.10:g.71718885T>C single nucleotide variant not provided [RCV001530920] Chr5:71718885 [GRCh38]
Chr5:71014712 [GRCh37]
Chr5:5q13.2		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2		 likely pathogenic
NM_004291.4(CARTPT):c.270G>A (p.Val90=) single nucleotide variant not provided [RCV000941119] Chr5:71720534 [GRCh38]
Chr5:71016361 [GRCh37]
Chr5:5q13.2		 likely benign
GRCh37/hg19 5q13.2(chr5:70986021-71494025)x3 copy number gain not provided [RCV000849620] Chr5:70986021..71494025 [GRCh37]
Chr5:5q13.2		 uncertain significance
NM_004291.4(CARTPT):c.160-204A>G single nucleotide variant not provided [RCV001540923] Chr5:71719676 [GRCh38]
Chr5:71015503 [GRCh37]
Chr5:5q13.2		 benign
NM_004291.4(CARTPT):c.*126C>A single nucleotide variant not provided [RCV001594777] Chr5:71720741 [GRCh38]
Chr5:71016568 [GRCh37]
Chr5:5q13.2		 benign
NM_004291.4(CARTPT):c.94G>A (p.Glu32Lys) single nucleotide variant not provided [RCV000891052] Chr5:71719387 [GRCh38]
Chr5:71015214 [GRCh37]
Chr5:5q13.2		 likely benign
NM_004291.4(CARTPT):c.*6C>G single nucleotide variant not provided [RCV001530528] Chr5:71720621 [GRCh38]
Chr5:71016448 [GRCh37]
Chr5:5q13.2		 benign
NM_004291.4(CARTPT):c.*39A>G single nucleotide variant not provided [RCV001687821] Chr5:71720654 [GRCh38]
Chr5:71016481 [GRCh37]
Chr5:5q13.2		 benign
NM_004291.4(CARTPT):c.159+172C>T single nucleotide variant not provided [RCV001655304] Chr5:71719624 [GRCh38]
Chr5:71015451 [GRCh37]
Chr5:5q13.2		 benign
NM_004291.4(CARTPT):c.*21del deletion not provided [RCV001715124] Chr5:71720636 [GRCh38]
Chr5:71016463 [GRCh37]
Chr5:5q13.2		 benign
NM_004291.4(CARTPT):c.*77G>A single nucleotide variant not provided [RCV001635674] Chr5:71720692 [GRCh38]
Chr5:71016519 [GRCh37]
Chr5:5q13.2		 benign
NC_000005.10:g.71719119A>G single nucleotide variant not provided [RCV001610036] Chr5:71719119 [GRCh38]
Chr5:71014946 [GRCh37]
Chr5:5q13.2		 benign
NC_000005.10:g.71718901T>A single nucleotide variant not provided [RCV001539443] Chr5:71718901 [GRCh38]
Chr5:71014728 [GRCh37]
Chr5:5q13.2		 benign
GRCh37/hg19 5q13.2(chr5:70907495-71054732)x1 copy number loss not provided [RCV001834193] Chr5:70907495..71054732 [GRCh37]
Chr5:5q13.2		 uncertain significance
GRCh37/hg19 5q13.2(chr5:70613836-71265263)x3 copy number gain not provided [RCV001836547] Chr5:70613836..71265263 [GRCh37]
Chr5:5q13.2		 uncertain significance
NM_004291.4(CARTPT):c.334C>T (p.Leu112Phe) single nucleotide variant not specified [RCV004160631] Chr5:71720598 [GRCh38]
Chr5:71016425 [GRCh37]
Chr5:5q13.2		 uncertain significance
NM_004291.4(CARTPT):c.203G>A (p.Arg68His) single nucleotide variant not specified [RCV004105320] Chr5:71719923 [GRCh38]
Chr5:71015750 [GRCh37]
Chr5:5q13.2		 uncertain significance
NM_004291.4(CARTPT):c.31C>A (p.Leu11Ile) single nucleotide variant not specified [RCV004174848] Chr5:71719324 [GRCh38]
Chr5:71015151 [GRCh37]
Chr5:5q13.2		 uncertain significance
NM_004291.4(CARTPT):c.212T>A (p.Ile71Asn) single nucleotide variant not specified [RCV004358118] Chr5:71719932 [GRCh38]
Chr5:71015759 [GRCh37]
Chr5:5q13.2		 uncertain significance
GRCh38/hg38 5q13.2(chr5:71378409-72329454) copy number gain Autism spectrum disorder [RCV003883394] Chr5:71378409..72329454 [GRCh38]
Chr5:5q13.2		 uncertain significance
GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1 copy number loss See cases [RCV004442777] Chr5:64364710..72835471 [GRCh37]
Chr5:5q12.3-13.2		 pathogenic
NM_004291.4(CARTPT):c.91G>T (p.Ala31Ser) single nucleotide variant not specified [RCV004427302] Chr5:71719384 [GRCh38]
Chr5:71015211 [GRCh37]
Chr5:5q13.2		 uncertain significance
NM_004291.4(CARTPT):c.7A>G (p.Ser3Gly) single nucleotide variant not specified [RCV004427301] Chr5:71719300 [GRCh38]
Chr5:71015127 [GRCh37]
Chr5:5q13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:287
Count of miRNA genes:260
Interacting mature miRNAs:273
Transcripts:ENST00000296777, ENST00000513096
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-19012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,016,498 - 71,016,755UniSTSGRCh37
Build 36571,052,254 - 71,052,511RGDNCBI36
Celera566,912,186 - 66,912,443RGD
Cytogenetic Map5q13.2UniSTS
HuRef566,222,439 - 66,222,696UniSTS
GeneMap99-GB4 RH Map5354.2UniSTS
Whitehead-RH Map5253.2UniSTS
NCBI RH Map5313.3UniSTS
D5S2377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,016,498 - 71,016,729UniSTSGRCh37
Build 36571,052,254 - 71,052,485RGDNCBI36
Celera566,912,186 - 66,912,417RGD
Cytogenetic Map5q13.2UniSTS
HuRef566,222,439 - 66,222,670UniSTS
Stanford-G3 RH Map52538.0UniSTS
NCBI RH Map5321.8UniSTS
GeneMap99-G3 RH Map52533.0UniSTS
CART  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,016,558 - 71,016,707UniSTSGRCh37
Build 36571,052,314 - 71,052,463RGDNCBI36
Celera566,912,246 - 66,912,395RGD
HuRef566,222,499 - 66,222,648UniSTS
STS-U16826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,016,673 - 71,016,793UniSTSGRCh37
Build 36571,052,429 - 71,052,549RGDNCBI36
Celera566,912,361 - 66,912,481RGD
Cytogenetic Map5q13.2UniSTS
HuRef566,222,614 - 66,222,734UniSTS
GeneMap99-GB4 RH Map5350.74UniSTS
NCBI RH Map5319.4UniSTS
CART_3224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,016,382 - 71,017,050UniSTSGRCh37
Build 36571,052,138 - 71,052,806RGDNCBI36
Celera566,912,070 - 66,912,738RGD
HuRef566,222,323 - 66,222,991UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 11 1 26 1
Medium 965 333 265 1 26 45 503 1061 4 359 125 1 2 45
Low 816 426 753 2 49 2 324 360 1178 10 325 493 29 301
Below cutoff 423 1161 315 160 544 110 2032 605 882 92 371 454 50 574 1341

Sequence


Ensembl Acc Id: ENST00000296777   ⟹   ENSP00000296777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl571,719,275 - 71,721,045 (+)Ensembl
Ensembl Acc Id: ENST00000513096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl571,719,579 - 71,721,048 (+)Ensembl
RefSeq Acc Id: NM_004291   ⟹   NP_004282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,719,275 - 71,721,045 (+)NCBI
GRCh37571,014,990 - 71,016,875 (+)ENTREZGENE
Build 36571,050,750 - 71,052,628 (+)NCBI Archive
HuRef566,220,931 - 66,222,816 (+)ENTREZGENE
CHM1_1570,447,686 - 70,449,571 (+)NCBI
T2T-CHM13v2.0572,200,597 - 72,202,367 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004282 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB08010 (Get FASTA)   NCBI Sequence Viewer  
  AAB08011 (Get FASTA)   NCBI Sequence Viewer  
  AAH29882 (Get FASTA)   NCBI Sequence Viewer  
  CAG47012 (Get FASTA)   NCBI Sequence Viewer  
  EAW95694 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000296777
  ENSP00000296777.4
GenBank Protein Q16568 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004282   ⟸   NM_004291
- Peptide Label: preproprotein
- UniProtKB: Q6FG92 (UniProtKB/Swiss-Prot),   Q16568 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000296777   ⟸   ENST00000296777

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16568-F1-model_v2 AlphaFold Q16568 1-116 view protein structure

Promoters
RGD ID:6869840
Promoter ID:EPDNEW_H8085
Type:multiple initiation site
Name:CARTPT_1
Description:CART prepropeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,719,275 - 71,719,335EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24323 AgrOrtholog
COSMIC CARTPT COSMIC
Ensembl Genes ENSG00000164326 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296777 ENTREZGENE
  ENST00000296777.5 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.40.30 UniProtKB/Swiss-Prot
GTEx ENSG00000164326 GTEx
HGNC ID HGNC:24323 ENTREZGENE
Human Proteome Map CARTPT Human Proteome Map
InterPro CART UniProtKB/Swiss-Prot
  CART_C_sf UniProtKB/Swiss-Prot
KEGG Report hsa:9607 UniProtKB/Swiss-Prot
NCBI Gene 9607 ENTREZGENE
OMIM 602606 OMIM
PANTHER COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT PROTEIN UniProtKB/Swiss-Prot
  PTHR16655 UniProtKB/Swiss-Prot
Pfam CART UniProtKB/Swiss-Prot
PharmGKB PA162381084 PharmGKB
Superfamily-SCOP SSF64546 UniProtKB/Swiss-Prot
UniProt CART_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FG92 ENTREZGENE
UniProt Secondary Q6FG92 UniProtKB/Swiss-Prot