TRPC1 (transient receptor potential cation channel subfamily C member 1) - Rat Genome Database

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Gene: TRPC1 (transient receptor potential cation channel subfamily C member 1) Homo sapiens
Analyze
Symbol: TRPC1
Name: transient receptor potential cation channel subfamily C member 1
RGD ID: 734058
HGNC Page HGNC:12333
Description: Enables several functions, including ATPase binding activity; inositol 1,4,5 trisphosphate binding activity; and transmembrane transporter binding activity. Involved in several processes, including melanin biosynthetic process; positive regulation of release of sequestered calcium ion into cytosol; and regulation of cytosolic calcium ion concentration. Located in plasma membrane. Part of receptor complex. Biomarker of stomach cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: capacitative calcium channel protein Trp1; HTRP-1; MGC133334; MGC133335; short transient receptor potential channel 1; transient receptor potential canonical 1; transient receptor potential cation channel, subfamily C, member 1; transient receptor potential channel 1; transient receptor protein 1; TRP-1; TRP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383142,724,034 - 142,807,888 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3142,724,034 - 142,807,888 (+)EnsemblGRCh38hg38GRCh38
GRCh373142,442,876 - 142,526,730 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363143,925,956 - 144,009,420 (+)NCBINCBI36Build 36hg18NCBI36
Build 343143,925,963 - 144,009,427NCBI
Celera3140,866,763 - 140,950,233 (+)NCBICelera
Cytogenetic Map3q23NCBI
HuRef3139,815,981 - 139,899,449 (+)NCBIHuRef
CHM1_13142,406,259 - 142,489,727 (+)NCBICHM1_1
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)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
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
amiloride  (EXP)
amitrole  (ISO)
arsenous acid  (ISO)
atrazine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
carbachol  (ISO)
chloroquine  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
fasudil  (EXP,ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
indometacin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
malaoxon  (ISO)
malathion  (ISO)
metformin  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
Muscarine  (ISO)
nickel atom  (EXP)
ouabain  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylephrine  (ISO)
pyrethrins  (ISO)
rotenone  (ISO)
sildenafil citrate  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
Y-27632  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. TRPC1 and TRPC6 channels cooperate with TRPV4 to mediate mechanical hyperalgesia and nociceptor sensitization. Alessandri-Haber N, etal., J Neurosci. 2009 May 13;29(19):6217-28. doi: 10.1523/JNEUROSCI.0893-09.2009.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Identification of a prognostic 5-Gene expression signature for gastric cancer. Hou JY, etal., J Cancer Res Clin Oncol. 2017 Apr;143(4):619-629. doi: 10.1007/s00432-016-2324-z. Epub 2016 Dec 29.
4. Attenuation of store-operated Ca2+ entry and enhanced expression of TRPC channels in caudal artery smooth muscle from Type 2 diabetic Goto-Kakizaki rats. Mita M, etal., Clin Exp Pharmacol Physiol. 2010 Jul;37(7):670-8. doi: 10.1111/j.1440-1681.2010.05373.x. Epub 2010 Mar 12.
5. HNF4 alpha and the Ca-channel TRPC1 are novel disease candidate genes in diabetic nephropathy. Niehof M and Borlak J, Diabetes. 2008 Apr;57(4):1069-77. Epub 2008 Jan 9.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7568191   PMID:7589464   PMID:8126111   PMID:8646775   PMID:8663995   PMID:9215637   PMID:10097141   PMID:10199829   PMID:10766822   PMID:10970773   PMID:10980191   PMID:11139478  
PMID:11290752   PMID:11301024   PMID:11336651   PMID:11983166   PMID:12032305   PMID:12060571   PMID:12193412   PMID:12196544   PMID:12356946   PMID:12477932   PMID:12732636   PMID:12736151  
PMID:12766172   PMID:12857742   PMID:14505576   PMID:14530267   PMID:14614461   PMID:14706284   PMID:14707123   PMID:15016832   PMID:15105836   PMID:15188402   PMID:15199065   PMID:15220115  
PMID:15347566   PMID:15385169   PMID:15542611   PMID:15623527   PMID:15654973   PMID:15757897   PMID:15763245   PMID:15834157   PMID:15972814   PMID:16283206   PMID:16344560   PMID:16382100  
PMID:16527499   PMID:16529812   PMID:16551274   PMID:16709572   PMID:16822931   PMID:16870612   PMID:16899508   PMID:17217049   PMID:17224452   PMID:17233611   PMID:17289052   PMID:17348017  
PMID:17850866   PMID:17892531   PMID:17920677   PMID:17957383   PMID:18068335   PMID:18172497   PMID:18249094   PMID:18261457   PMID:18326500   PMID:18420269   PMID:18430726   PMID:18436303  
PMID:18506892   PMID:18542994   PMID:18546016   PMID:18644792   PMID:18802022   PMID:18802326   PMID:18843204   PMID:18990707   PMID:18995841   PMID:19052258   PMID:19168436   PMID:19193631  
PMID:19228695   PMID:19307462   PMID:19322201   PMID:19446005   PMID:19471101   PMID:19701773   PMID:19725137   PMID:19749483   PMID:19850920   PMID:19875453   PMID:19897728   PMID:19913121  
PMID:19945390   PMID:20032510   PMID:20093626   PMID:20187291   PMID:20194530   PMID:20458742   PMID:20515740   PMID:20544850   PMID:20628086   PMID:21408196   PMID:21506118   PMID:21640715  
PMID:21747233   PMID:21749700   PMID:21873635   PMID:22157757   PMID:22367186   PMID:22446186   PMID:22451676   PMID:22474110   PMID:22592407   PMID:22668831   PMID:22687694   PMID:22744003  
PMID:22932896   PMID:23049826   PMID:23077641   PMID:23079337   PMID:23115638   PMID:23203809   PMID:23261316   PMID:23382219   PMID:23544998   PMID:23549783   PMID:23784143   PMID:24603752  
PMID:24639248   PMID:24953315   PMID:25114176   PMID:25133583   PMID:25143380   PMID:25511389   PMID:25533457   PMID:25535724   PMID:25824146   PMID:25960236   PMID:25971967   PMID:26232624  
PMID:26280213   PMID:26336927   PMID:26453325   PMID:26647723   PMID:27102434   PMID:27183905   PMID:27443843   PMID:27499044   PMID:27506849   PMID:27793015   PMID:27986325   PMID:28041683  
PMID:28185894   PMID:28325835   PMID:28559303   PMID:28583863   PMID:28791397   PMID:28949388   PMID:29150520   PMID:29574924   PMID:29594865   PMID:29926068   PMID:30021884   PMID:30108272  
PMID:30423318   PMID:30755645   PMID:30948266   PMID:31092255   PMID:31094294   PMID:31243341   PMID:31586073   PMID:31838437   PMID:31936855   PMID:31996247   PMID:32088241   PMID:32097940  
PMID:32415497   PMID:32514827   PMID:32560824   PMID:33338589   PMID:33428136   PMID:33877007   PMID:34199280   PMID:34988680   PMID:34988986   PMID:35106847   PMID:35882979   PMID:35887266  
PMID:35905654   PMID:36797544   PMID:37062436   PMID:38277724  


Genomics

Comparative Map Data
TRPC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383142,724,034 - 142,807,888 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3142,724,034 - 142,807,888 (+)EnsemblGRCh38hg38GRCh38
GRCh373142,442,876 - 142,526,730 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363143,925,956 - 144,009,420 (+)NCBINCBI36Build 36hg18NCBI36
Build 343143,925,963 - 144,009,427NCBI
Celera3140,866,763 - 140,950,233 (+)NCBICelera
Cytogenetic Map3q23NCBI
HuRef3139,815,981 - 139,899,449 (+)NCBIHuRef
CHM1_13142,406,259 - 142,489,727 (+)NCBICHM1_1
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBIT2T-CHM13v2.0
Trpc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39995,587,125 - 95,632,438 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl995,587,135 - 95,632,428 (-)EnsemblGRCm39 Ensembl
GRCm38995,705,072 - 95,750,386 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl995,705,082 - 95,750,375 (-)EnsemblGRCm38mm10GRCm38
MGSCv37995,607,046 - 95,650,777 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36995,515,979 - 95,559,710 (-)NCBIMGSCv36mm8
Celera995,273,759 - 95,317,486 (-)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map950.2NCBI
Trpc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88105,142,931 - 105,193,842 (-)NCBIGRCr8
mRatBN7.2896,263,322 - 96,314,220 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl896,263,329 - 96,314,276 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8101,935,007 - 101,979,557 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08100,134,262 - 100,178,810 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0897,973,204 - 98,017,754 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08103,503,982 - 103,554,905 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8103,503,985 - 103,554,468 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08102,955,430 - 103,005,377 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.08102,953,764 - 102,954,177 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48100,770,833 - 100,821,420NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera895,710,876 - 95,759,508 (-)NCBICelera
Cytogenetic Map8q31NCBI
Trpc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555083,143,868 - 3,211,613 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555083,143,868 - 3,211,613 (-)NCBIChiLan1.0ChiLan1.0
TRPC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22140,634,964 - 140,718,579 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13140,639,696 - 140,726,837 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03139,757,408 - 139,841,006 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13147,348,776 - 147,432,332 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3147,349,056 - 147,432,332 (+)Ensemblpanpan1.1panPan2
TRPC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12338,350,066 - 38,416,086 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2338,350,278 - 38,414,464 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2338,276,236 - 38,342,159 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02338,882,222 - 38,948,154 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2338,882,141 - 38,948,153 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12338,564,280 - 38,643,474 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02338,640,845 - 38,706,480 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02338,884,935 - 38,950,859 (+)NCBIUU_Cfam_GSD_1.0
Trpc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560277,600,930 - 77,678,903 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365404,323,528 - 4,418,685 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365404,340,672 - 4,417,655 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1383,436,395 - 83,498,478 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11383,436,343 - 83,498,419 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21391,200,922 - 91,271,298 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRPC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11547,827,295 - 47,909,207 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1547,827,247 - 47,909,202 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604120,761,507 - 20,843,909 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473019,307,346 - 19,375,537 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPC1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001251845.1(TRPC1):c.328-1169G>A single nucleotide variant Lung cancer [RCV000092982] Chr3:142742316 [GRCh38]
Chr3:142461158 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24		 pathogenic
GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1 copy number loss See cases [RCV000051575] Chr3:141751960..148246189 [GRCh38]
Chr3:141470802..147963976 [GRCh37]
Chr3:142953492..149446666 [NCBI36]
Chr3:3q23-24		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_001251845.2(TRPC1):c.970C>T (p.Gln324Ter) single nucleotide variant Malignant tumor of prostate [RCV000149146] Chr3:142784713 [GRCh38]
Chr3:142503555 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1 copy number loss See cases [RCV000135827] Chr3:142780798..146233927 [GRCh38]
Chr3:142499640..145951714 [GRCh37]
Chr3:143982330..147434404 [NCBI36]
Chr3:3q23-24		 uncertain significance
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1		 pathogenic|likely benign
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh37/hg19 3q23(chr3:142272098-142691972)x3 copy number gain See cases [RCV000599254] Chr3:142272098..142691972 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1889A>G (p.Asn630Ser) single nucleotide variant Inborn genetic diseases [RCV003281659] Chr3:142804108 [GRCh38]
Chr3:142522950 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24		 pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_001251845.2(TRPC1):c.1867G>A (p.Ala623Thr) single nucleotide variant Inborn genetic diseases [RCV003258289] Chr3:142804086 [GRCh38]
Chr3:142522928 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1363C>T (p.Arg455Cys) single nucleotide variant Inborn genetic diseases [RCV002861009] Chr3:142791084 [GRCh38]
Chr3:142509926 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.671C>T (p.Ala224Val) single nucleotide variant Inborn genetic diseases [RCV002794730] Chr3:142777670 [GRCh38]
Chr3:142496512 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.505C>T (p.Arg169Cys) single nucleotide variant Inborn genetic diseases [RCV002689402] Chr3:142748333 [GRCh38]
Chr3:142467175 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1150T>C (p.Phe384Leu) single nucleotide variant Inborn genetic diseases [RCV002818772] Chr3:142784893 [GRCh38]
Chr3:142503735 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1442A>G (p.His481Arg) single nucleotide variant Inborn genetic diseases [RCV002946126] Chr3:142792828 [GRCh38]
Chr3:142511670 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.64T>C (p.Ser22Pro) single nucleotide variant Inborn genetic diseases [RCV002758247] Chr3:142724623 [GRCh38]
Chr3:142443465 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.494T>C (p.Leu165Ser) single nucleotide variant Inborn genetic diseases [RCV002870134] Chr3:142748322 [GRCh38]
Chr3:142467164 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.743G>C (p.Ser248Thr) single nucleotide variant Inborn genetic diseases [RCV002915588] Chr3:142777742 [GRCh38]
Chr3:142496584 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.106G>A (p.Asp36Asn) single nucleotide variant Inborn genetic diseases [RCV002826455] Chr3:142724665 [GRCh38]
Chr3:142443507 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1268T>C (p.Ile423Thr) single nucleotide variant Inborn genetic diseases [RCV002718645] Chr3:142785011 [GRCh38]
Chr3:142503853 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.20C>G (p.Pro7Arg) single nucleotide variant Inborn genetic diseases [RCV003174629] Chr3:142724579 [GRCh38]
Chr3:142443421 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1535G>A (p.Arg512His) single nucleotide variant Inborn genetic diseases [RCV003197814] Chr3:142792921 [GRCh38]
Chr3:142511763 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.87C>A (p.Asn29Lys) single nucleotide variant Inborn genetic diseases [RCV003366894] Chr3:142724646 [GRCh38]
Chr3:142443488 [GRCh37]
Chr3:3q23		 uncertain significance
NM_001251845.2(TRPC1):c.1763T>C (p.Ile588Thr) single nucleotide variant Inborn genetic diseases [RCV003351459] Chr3:142803982 [GRCh38]
Chr3:142522824 [GRCh37]
Chr3:3q23		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:996
Count of miRNA genes:508
Interacting mature miRNAs:566
Transcripts:ENST00000273482, ENST00000460401, ENST00000476941, ENST00000480101
Prediction methods:Microtar, 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
Cda01f07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,526,547 - 142,526,667UniSTSGRCh37
Build 363144,009,237 - 144,009,357RGDNCBI36
Celera3140,950,050 - 140,950,170RGD
Cytogenetic Map3q23UniSTS
HuRef3139,899,266 - 139,899,386UniSTS
GeneMap99-GB4 RH Map3516.31UniSTS
NCBI RH Map31223.2UniSTS
G54018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,526,539 - 142,526,681UniSTSGRCh37
Build 363144,009,229 - 144,009,371RGDNCBI36
Celera3140,950,042 - 140,950,184RGD
Cytogenetic Map3q23UniSTS
HuRef3139,899,258 - 139,899,400UniSTS
D3S2912E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,525,316 - 142,525,440UniSTSGRCh37
Build 363144,008,006 - 144,008,130RGDNCBI36
Celera3140,948,819 - 140,948,943RGD
Cytogenetic Map3q23UniSTS
HuRef3139,898,035 - 139,898,159UniSTS
TRPC1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,524,915 - 142,525,044UniSTSGRCh37
Build 363144,007,605 - 144,007,734RGDNCBI36
Celera3140,948,418 - 140,948,547RGD
HuRef3139,897,634 - 139,897,763UniSTS
RH46321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,499,689 - 142,499,809UniSTSGRCh37
Build 363143,982,379 - 143,982,499RGDNCBI36
Celera3140,923,191 - 140,923,311RGD
Cytogenetic Map3q23UniSTS
HuRef3139,872,411 - 139,872,531UniSTS
GeneMap99-GB4 RH Map3516.41UniSTS
NCBI RH Map31223.2UniSTS
SHGC-36812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,526,627 - 142,526,702UniSTSGRCh37
Build 363144,009,317 - 144,009,392RGDNCBI36
Celera3140,950,130 - 140,950,205RGD
Cytogenetic Map3q23UniSTS
HuRef3139,899,346 - 139,899,421UniSTS
Stanford-G3 RH Map36382.0UniSTS
NCBI RH Map31223.2UniSTS
GeneMap99-G3 RH Map36852.0UniSTS
RH79185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373142,526,541 - 142,526,661UniSTSGRCh37
Build 363144,009,231 - 144,009,351RGDNCBI36
Celera3140,950,044 - 140,950,164RGD
Cytogenetic Map3q23UniSTS
HuRef3139,899,260 - 139,899,380UniSTS
GeneMap99-GB4 RH Map3516.41UniSTS
NCBI RH Map31223.2UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1346 1411 698 7 76 7 1746 833 1954 105 727 593 5 1 454 1261 1
Low 1025 866 823 412 1005 253 2499 1253 1780 303 712 1014 168 749 1424 5 2
Below cutoff 51 686 204 204 809 204 112 111 11 20 5 1 1 103

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001251845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB255425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC072028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF483645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI280444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX331349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS105825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB185459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF522961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ293239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000273482   ⟹   ENSP00000273482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3142,724,169 - 142,807,888 (+)Ensembl
RefSeq Acc Id: ENST00000460401   ⟹   ENSP00000418708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3142,724,565 - 142,777,658 (+)Ensembl
RefSeq Acc Id: ENST00000476941   ⟹   ENSP00000419313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3142,724,034 - 142,807,888 (+)Ensembl
RefSeq Acc Id: ENST00000480101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3142,780,940 - 142,785,287 (+)Ensembl
RefSeq Acc Id: ENST00000612385   ⟹   ENSP00000481537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3142,724,435 - 142,807,520 (+)Ensembl
RefSeq Acc Id: ENST00000698238   ⟹   ENSP00000513620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3142,724,034 - 142,807,888 (+)Ensembl
RefSeq Acc Id: NM_001251845   ⟹   NP_001238774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
GRCh373142,443,266 - 142,526,730 (+)NCBI
HuRef3139,815,981 - 139,899,449 (+)NCBI
CHM1_13142,406,259 - 142,489,727 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001413361   ⟹   NP_001400290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,734,192 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,481,431 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413362   ⟹   NP_001400291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413363   ⟹   NP_001400292
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413375   ⟹   NP_001400304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413376   ⟹   NP_001400305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,734,192 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,481,431 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413377   ⟹   NP_001400306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413378   ⟹   NP_001400307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413379   ⟹   NP_001400308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413380   ⟹   NP_001400309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413381   ⟹   NP_001400310
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413382   ⟹   NP_001400311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413383   ⟹   NP_001400312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413384   ⟹   NP_001400313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413385   ⟹   NP_001400314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_001413386   ⟹   NP_001400315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
RefSeq Acc Id: NM_003304   ⟹   NP_003295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,807,888 (+)NCBI
GRCh373142,443,266 - 142,526,730 (+)ENTREZGENE
GRCh373142,443,266 - 142,526,730 (+)NCBI
Build 363143,925,956 - 144,009,420 (+)NCBI Archive
HuRef3139,815,981 - 139,899,449 (+)ENTREZGENE
CHM1_13142,406,259 - 142,489,727 (+)NCBI
T2T-CHM13v2.03145,471,273 - 145,555,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007121   ⟹   XP_016862610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,734,192 - 142,807,888 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448839   ⟹   XP_047304795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,734,192 - 142,807,888 (+)NCBI
RefSeq Acc Id: XM_047448840   ⟹   XP_047304796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,802,277 (+)NCBI
RefSeq Acc Id: XM_047448841   ⟹   XP_047304797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,802,277 (+)NCBI
RefSeq Acc Id: XM_047448842   ⟹   XP_047304798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,802,343 (+)NCBI
RefSeq Acc Id: XM_054347732   ⟹   XP_054203707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,977 - 145,555,131 (+)NCBI
RefSeq Acc Id: XM_054347733   ⟹   XP_054203708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,978 - 145,555,131 (+)NCBI
RefSeq Acc Id: XM_054347734   ⟹   XP_054203709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,273 - 145,549,516 (+)NCBI
RefSeq Acc Id: XM_054347735   ⟹   XP_054203710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,273 - 145,549,516 (+)NCBI
RefSeq Acc Id: XM_054347736   ⟹   XP_054203711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,273 - 145,549,582 (+)NCBI
RefSeq Acc Id: XR_007095722
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,796,177 (+)NCBI
RefSeq Acc Id: XR_007095723
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,034 - 142,802,257 (+)NCBI
RefSeq Acc Id: XR_008486787
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,273 - 145,543,416 (+)NCBI
RefSeq Acc Id: XR_008486788
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03145,471,273 - 145,549,496 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001238774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400290 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400291 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400292 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400304 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400305 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400306 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400307 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400308 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400309 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400310 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400311 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400312 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400313 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400314 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400315 (Get FASTA)   NCBI Sequence Viewer  
  NP_003295 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862610 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304795 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304796 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304797 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203707 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203708 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203709 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203710 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203711 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI12339 (Get FASTA)   NCBI Sequence Viewer  
  AAI13954 (Get FASTA)   NCBI Sequence Viewer  
  AAM97860 (Get FASTA)   NCBI Sequence Viewer  
  ABP94017 (Get FASTA)   NCBI Sequence Viewer  
  ACT66710 (Get FASTA)   NCBI Sequence Viewer  
  BAF76425 (Get FASTA)   NCBI Sequence Viewer  
  CAA61447 (Get FASTA)   NCBI Sequence Viewer  
  CAJ01296 (Get FASTA)   NCBI Sequence Viewer  
  EAW78963 (Get FASTA)   NCBI Sequence Viewer  
  EAW78964 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000273482
  ENSP00000273482.6
  ENSP00000418708.1
  ENSP00000419313
  ENSP00000419313.1
  ENSP00000513620.1
GenBank Protein P48995 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003295   ⟸   NM_003304
- Peptide Label: isoform 2
- UniProtKB: A7VJS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001238774   ⟸   NM_001251845
- Peptide Label: isoform 1
- UniProtKB: Q14CE4 (UniProtKB/Swiss-Prot),   P48995 (UniProtKB/Swiss-Prot),   A7VJS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862610   ⟸   XM_017007121
- Peptide Label: isoform X1
- UniProtKB: A7VJS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000481537   ⟸   ENST00000612385
RefSeq Acc Id: ENSP00000273482   ⟸   ENST00000273482
RefSeq Acc Id: ENSP00000418708   ⟸   ENST00000460401
RefSeq Acc Id: ENSP00000419313   ⟸   ENST00000476941
RefSeq Acc Id: XP_047304798   ⟸   XM_047448842
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304796   ⟸   XM_047448840
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047304797   ⟸   XM_047448841
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304795   ⟸   XM_047448839
- Peptide Label: isoform X2
RefSeq Acc Id: ENSP00000513620   ⟸   ENST00000698238
RefSeq Acc Id: NP_001400292   ⟸   NM_001413363
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001400310   ⟸   NM_001413381
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001400291   ⟸   NM_001413362
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001400304   ⟸   NM_001413375
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001400307   ⟸   NM_001413378
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001400306   ⟸   NM_001413377
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001400308   ⟸   NM_001413379
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001400311   ⟸   NM_001413382
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001400309   ⟸   NM_001413380
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001400314   ⟸   NM_001413385
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001400312   ⟸   NM_001413383
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001400313   ⟸   NM_001413384
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001400315   ⟸   NM_001413386
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001400290   ⟸   NM_001413361
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001400305   ⟸   NM_001413376
- Peptide Label: isoform 6
RefSeq Acc Id: XP_054203711   ⟸   XM_054347736
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203709   ⟸   XM_054347734
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203710   ⟸   XM_054347735
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203707   ⟸   XM_054347732
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203708   ⟸   XM_054347733
- Peptide Label: isoform X2
Protein Domains
Transient receptor ion channel

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48995-F1-model_v2 AlphaFold P48995 1-793 view protein structure

Promoters
RGD ID:6865888
Promoter ID:EPDNEW_H6108
Type:initiation region
Name:TRPC1_1
Description:transient receptor potential cation channel subfamily C member1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6109  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,037 - 142,724,097EPDNEW
RGD ID:6865890
Promoter ID:EPDNEW_H6109
Type:initiation region
Name:TRPC1_2
Description:transient receptor potential cation channel subfamily C member1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6108  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383142,724,557 - 142,724,617EPDNEW
RGD ID:6801835
Promoter ID:HG_KWN:46389
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003304,   UC003EVC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363143,925,596 - 143,926,417 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12333 AgrOrtholog
COSMIC TRPC1 COSMIC
Ensembl Genes ENSG00000144935 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273482 ENTREZGENE
  ENST00000273482.10 UniProtKB/Swiss-Prot
  ENST00000460401.1 UniProtKB/TrEMBL
  ENST00000476941 ENTREZGENE
  ENST00000476941.6 UniProtKB/Swiss-Prot
  ENST00000698238.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000144935 GTEx
HGNC ID HGNC:12333 ENTREZGENE
Human Proteome Map TRPC1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPC1_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPC_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7220 UniProtKB/Swiss-Prot
NCBI Gene 7220 ENTREZGENE
OMIM 602343 OMIM
PANTHER PTHR10117 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10117:SF56 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA357 PharmGKB
PRINTS TRNSRECEPTRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPCHANNEL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TLK5_HUMAN UniProtKB/TrEMBL
  A7VJS2 ENTREZGENE, UniProtKB/TrEMBL
  H7C508_HUMAN UniProtKB/TrEMBL
  P48995 ENTREZGENE
  Q14CE4 ENTREZGENE
  TRPC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q14CE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPC1  transient receptor potential cation channel subfamily C member 1  TRPC1  transient receptor potential cation channel, subfamily C, member 1  Symbol and/or name change 5135510 APPROVED