TCP1 (t-complex 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: TCP1 (t-complex 1) Homo sapiens
Analyze
Symbol: TCP1
Name: t-complex 1
RGD ID: 732136
HGNC Page HGNC:11655
Description: Enables protein folding chaperone and ubiquitin protein ligase binding activity. Involved in chaperone mediated protein folding independent of cofactor; positive regulation of telomerase RNA localization to Cajal body; and protein stabilization. Acts upstream of with a positive effect on scaRNA localization to Cajal body. Located in centrosome and microtubule. Part of chaperonin-containing T-complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CCT-alpha; CCT1; CCTa; chaperonin containing T-complex polypeptide 1 subunit 1; D6S230E; t-complex protein 1; T-complex protein 1 subunit alpha; T-complex protein 1, alpha subunit; tailless complex polypeptide 1; TCP-1-alpha
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TCP1P1   TCP1P2   TCP1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386159,778,498 - 159,789,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6159,778,498 - 159,789,703 (-)EnsemblGRCh38hg38GRCh38
GRCh376160,199,530 - 160,210,634 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,119,520 - 160,130,725 (-)NCBINCBI36Build 36hg18NCBI36
Build 346160,169,941 - 160,181,146NCBI
Celera6160,845,607 - 160,856,819 (-)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6157,669,773 - 157,680,978 (-)NCBIHuRef
CHM1_16160,461,821 - 160,473,042 (-)NCBICHM1_1
T2T-CHM13v2.06161,024,115 - 161,035,234 (-)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
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
albendazole  (EXP)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
bleomycin A5  (EXP)
bufalin  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumarin  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dinophysistoxin 1  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
elemental selenium  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
ivermectin  (EXP)
lead(0)  (EXP)
lovastatin  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
Nonylphenol  (ISO)
okadaic acid  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
quartz  (EXP)
raloxifene  (ISO)
selenium atom  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
T-2 toxin  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vitamin E  (ISO)
warfarin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1572657   PMID:1602151   PMID:1630491   PMID:1630492   PMID:1901944   PMID:2377466   PMID:3476253   PMID:3653076   PMID:7615668   PMID:7904580   PMID:7908441   PMID:7916460  
PMID:7953530   PMID:8098536   PMID:8633246   PMID:8718679   PMID:8733136   PMID:8812443   PMID:8889548   PMID:8982604   PMID:9189717   PMID:9250675   PMID:9337846   PMID:9885248  
PMID:10353914   PMID:10524223   PMID:10791973   PMID:10978337   PMID:11018062   PMID:11532003   PMID:11771755   PMID:11933046   PMID:12060742   PMID:12215766   PMID:12477932   PMID:12502735  
PMID:12665801   PMID:12887895   PMID:14499622   PMID:14532270   PMID:14574404   PMID:14636579   PMID:14744259   PMID:15161933   PMID:15251459   PMID:15489334   PMID:15745879   PMID:15923617  
PMID:15967112   PMID:16085932   PMID:16097032   PMID:16263121   PMID:16341674   PMID:16465465   PMID:16497536   PMID:16916647   PMID:17081983   PMID:17314511   PMID:17339318   PMID:17643375  
PMID:17939680   PMID:18029348   PMID:18654987   PMID:18715871   PMID:18729074   PMID:18775504   PMID:18782753   PMID:19056867   PMID:19132087   PMID:19156129   PMID:19188445   PMID:19380743  
PMID:19684306   PMID:19738201   PMID:19913121   PMID:20080638   PMID:20193073   PMID:20458337   PMID:20467437   PMID:20473970   PMID:20516061   PMID:20585571   PMID:20628086   PMID:20890123  
PMID:21081503   PMID:21081666   PMID:21098288   PMID:21145461   PMID:21319273   PMID:21343306   PMID:21525035   PMID:21639856   PMID:21726808   PMID:21753002   PMID:21873635   PMID:21942715  
PMID:21946088   PMID:22133715   PMID:22160715   PMID:22268729   PMID:22304920   PMID:22360420   PMID:22623428   PMID:22681889   PMID:22810585   PMID:22863883   PMID:22939629   PMID:23011926  
PMID:23125841   PMID:23184937   PMID:23318261   PMID:23349634   PMID:23383273   PMID:23398456   PMID:23402259   PMID:23438482   PMID:23443559   PMID:23455922   PMID:23508102   PMID:23533145  
PMID:23658844   PMID:23686814   PMID:23703321   PMID:23752268   PMID:24169447   PMID:24244333   PMID:24298020   PMID:24366813   PMID:24711643   PMID:24846140   PMID:24862099   PMID:24927568  
PMID:24980433   PMID:24981860   PMID:25144556   PMID:25147182   PMID:25192599   PMID:25224486   PMID:25306918   PMID:25315684   PMID:25324306   PMID:25342745   PMID:25416956   PMID:25437307  
PMID:25467444   PMID:25670202   PMID:25678563   PMID:25704758   PMID:25737280   PMID:25756610   PMID:25798074   PMID:25852190   PMID:25921289   PMID:25940091   PMID:25944111   PMID:25959826  
PMID:25963833   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26460568   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26556873   PMID:26598607   PMID:26638075   PMID:26687479  
PMID:26706127   PMID:26777405   PMID:26811472   PMID:26816005   PMID:26831064   PMID:26912792   PMID:26949251   PMID:26972000   PMID:26990986   PMID:27025967   PMID:27182664   PMID:27342126  
PMID:27375898   PMID:27377895   PMID:27462432   PMID:27503909   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27637333   PMID:27684187   PMID:27705803   PMID:27880917   PMID:27929117  
PMID:28027390   PMID:28065597   PMID:28102321   PMID:28137758   PMID:28186131   PMID:28302793   PMID:28330616   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28561026  
PMID:28581483   PMID:28685749   PMID:28718761   PMID:28902428   PMID:28927264   PMID:28986522   PMID:29229926   PMID:29331416   PMID:29395067   PMID:29467282   PMID:29477555   PMID:29507755  
PMID:29509190   PMID:29511261   PMID:29531219   PMID:29564676   PMID:29568061   PMID:29676528   PMID:29845934   PMID:29955894   PMID:29991511   PMID:30021884   PMID:30194290   PMID:30196744  
PMID:30209976   PMID:30258100   PMID:30442662   PMID:30455355   PMID:30462309   PMID:30463901   PMID:30575818   PMID:30699358   PMID:30711629   PMID:30737378   PMID:30745168   PMID:30833792  
PMID:30884312   PMID:30890647   PMID:30940648   PMID:30948266   PMID:30955883   PMID:31067453   PMID:31091453   PMID:31239290   PMID:31300519   PMID:31353912   PMID:31409639   PMID:31436131  
PMID:31470122   PMID:31501420   PMID:31553912   PMID:31586073   PMID:31620119   PMID:31665637   PMID:31685992   PMID:31732153   PMID:31792442   PMID:31980649   PMID:32129710   PMID:32149426  
PMID:32176628   PMID:32239614   PMID:32416067   PMID:32529326   PMID:32552912   PMID:32665654   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32786267   PMID:32807901   PMID:32814053  
PMID:32814769   PMID:32843620   PMID:32850835   PMID:32877691   PMID:32929329   PMID:32939012   PMID:32994395   PMID:33022573   PMID:33024031   PMID:33087562   PMID:33137104   PMID:33144677  
PMID:33194618   PMID:33226137   PMID:33239621   PMID:33301849   PMID:33545068   PMID:33567341   PMID:33658012   PMID:33762435   PMID:33766124   PMID:33777788   PMID:33863777   PMID:33916271  
PMID:33961781   PMID:34004371   PMID:34079125   PMID:34158536   PMID:34162426   PMID:34185411   PMID:34189442   PMID:34349018   PMID:34373451   PMID:34428256   PMID:34462429   PMID:34537242  
PMID:34581821   PMID:34612770   PMID:34645483   PMID:34687317   PMID:34728620   PMID:34732716   PMID:35013218   PMID:35016035   PMID:35102251   PMID:35140242   PMID:35235311   PMID:35253629  
PMID:35256949   PMID:35271311   PMID:35338135   PMID:35366418   PMID:35411049   PMID:35446349   PMID:35449157   PMID:35509820   PMID:35530310   PMID:35546148   PMID:35563538   PMID:35652658  
PMID:35654790   PMID:35676659   PMID:35681168   PMID:35776542   PMID:35777956   PMID:35831314   PMID:35844135   PMID:35944360   PMID:35973513   PMID:35973989   PMID:36055981   PMID:36057605  
PMID:36114006   PMID:36180527   PMID:36180891   PMID:36215168   PMID:36244648   PMID:36282215   PMID:36398662   PMID:36414381   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265  
PMID:36584595   PMID:36652389   PMID:36762613   PMID:36912080   PMID:36929488   PMID:37001908   PMID:37059091   PMID:37071682   PMID:37105989   PMID:37120454   PMID:37132043   PMID:37167062  
PMID:37223481   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37689310   PMID:37827155   PMID:37866880   PMID:37929963   PMID:38113892   PMID:38172120   PMID:38245532   PMID:38280479  
PMID:38334954   PMID:38387902   PMID:38777146   PMID:39033992   PMID:39231216   PMID:39238192  


Genomics

Comparative Map Data
TCP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386159,778,498 - 159,789,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6159,778,498 - 159,789,703 (-)EnsemblGRCh38hg38GRCh38
GRCh376160,199,530 - 160,210,634 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,119,520 - 160,130,725 (-)NCBINCBI36Build 36hg18NCBI36
Build 346160,169,941 - 160,181,146NCBI
Celera6160,845,607 - 160,856,819 (-)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6157,669,773 - 157,680,978 (-)NCBIHuRef
CHM1_16160,461,821 - 160,473,042 (-)NCBICHM1_1
T2T-CHM13v2.06161,024,115 - 161,035,234 (-)NCBIT2T-CHM13v2.0
Tcp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391713,135,216 - 13,143,954 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1713,134,588 - 13,143,954 (+)EnsemblGRCm39 Ensembl
GRCm381712,916,329 - 12,925,067 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1712,915,701 - 12,925,067 (+)EnsemblGRCm38mm10GRCm38
MGSCv371713,109,331 - 13,117,933 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361712,759,446 - 12,767,497 (+)NCBIMGSCv36mm8
Celera1712,948,013 - 12,956,616 (+)NCBICelera
Cytogenetic Map17A1NCBI
cM Map178.72NCBI
Tcp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8150,376,848 - 50,384,527 (-)NCBIGRCr8
mRatBN7.2147,829,061 - 47,836,809 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl147,828,652 - 47,836,839 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx148,520,703 - 48,528,382 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0154,506,599 - 54,514,346 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0148,596,232 - 48,603,911 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0148,025,664 - 48,033,343 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl148,025,663 - 48,033,396 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0151,719,055 - 51,726,734 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4142,103,543 - 42,111,222 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1142,106,487 - 42,114,167 (-)NCBI
Celera143,629,524 - 43,637,203 (-)NCBICelera
RH 3.4 Map1537.31RGD
Cytogenetic Map1q11NCBI
Tcp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543921,114,038 - 21,124,379 (+)NCBIChiLan1.0ChiLan1.0
TCP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25179,877,363 - 179,888,668 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16177,781,864 - 177,793,622 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06157,661,409 - 157,672,581 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16162,673,050 - 162,684,261 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6162,673,596 - 162,683,985 (-)Ensemblpanpan1.1panPan2
TCP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1149,029,260 - 49,038,023 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl149,029,282 - 49,038,020 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha149,871,249 - 49,879,992 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0149,213,974 - 49,222,681 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl149,213,961 - 49,222,697 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1149,096,311 - 49,105,058 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0148,967,408 - 48,976,160 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0149,582,581 - 49,591,336 (-)NCBIUU_Cfam_GSD_1.0
Tcp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946144,021,338 - 144,030,784 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493648911,273,335 - 11,282,811 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TCP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl17,590,140 - 7,601,795 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.117,590,140 - 7,600,709 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.219,389,098 - 9,399,667 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TCP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11387,377,452 - 87,388,692 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1387,377,996 - 87,388,568 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604059,776,464 - 59,787,759 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tcp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248553,121,274 - 3,133,640 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TCP1
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26		 uncertain significance
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27		 uncertain significance
NM_030752.3(TCP1):c.1109G>C (p.Arg370Pro) single nucleotide variant not specified [RCV004314999] Chr6:159780076 [GRCh38]
Chr6:160201108 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_030752.3(TCP1):c.918G>A (p.Met306Ile) single nucleotide variant not specified [RCV004314413] Chr6:159780990 [GRCh38]
Chr6:160202022 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1436A>G (p.Glu479Gly) single nucleotide variant not specified [RCV004299051] Chr6:159779645 [GRCh38]
Chr6:160200677 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_005891.3(ACAT2):c.1024-5G>A single nucleotide variant not provided [RCV000900609] Chr6:159778654 [GRCh38]
Chr6:160199686 [GRCh37]
Chr6:6q25.3		 likely benign
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 copy number gain not provided [RCV000848057] Chr6:157262571..160992289 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1 copy number loss not provided [RCV000846782] Chr6:160025206..160271483 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3 copy number gain not provided [RCV001258756] Chr6:159998877..160413982 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) copy number loss not specified [RCV002053640] Chr6:153207930..164322346 [GRCh37]
Chr6:6q25.2-26		 pathogenic
NC_000006.11:g.(?_158532398)_(162868359_?)del deletion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912]|not provided [RCV003122911] Chr6:158532398..162868359 [GRCh37]
Chr6:6q25.3-26		 pathogenic|no classifications from unflagged records
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1 copy number loss See cases [RCV002287557] Chr6:157318401..165233548 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_030752.3(TCP1):c.1641T>A (p.Asp547Glu) single nucleotide variant not specified [RCV004313411] Chr6:159779075 [GRCh38]
Chr6:160200107 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1462C>T (p.Leu488Phe) single nucleotide variant not specified [RCV004144749] Chr6:159779254 [GRCh38]
Chr6:160200286 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_005891.3(ACAT2):c.1070C>G (p.Ala357Gly) single nucleotide variant not specified [RCV004137674] Chr6:159778705 [GRCh38]
Chr6:160199737 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.952C>T (p.Arg318Cys) single nucleotide variant not specified [RCV004235662] Chr6:159780956 [GRCh38]
Chr6:160201988 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.731C>A (p.Thr244Lys) single nucleotide variant not specified [RCV004236735] Chr6:159784007 [GRCh38]
Chr6:160205039 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_005891.3(ACAT2):c.1042G>T (p.Ala348Ser) single nucleotide variant not specified [RCV004209238] Chr6:159778677 [GRCh38]
Chr6:160199709 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1275C>G (p.Asn425Lys) single nucleotide variant not specified [RCV004134982] Chr6:159779910 [GRCh38]
Chr6:160200942 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1096A>C (p.Asn366His) single nucleotide variant not specified [RCV004167439] Chr6:159780444 [GRCh38]
Chr6:160201476 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_005891.3(ACAT2):c.1118T>C (p.Met373Thr) single nucleotide variant not specified [RCV004185403] Chr6:159778753 [GRCh38]
Chr6:160199785 [GRCh37]
Chr6:6q25.3		 likely benign
NM_030752.3(TCP1):c.511A>G (p.Met171Val) single nucleotide variant not specified [RCV004225013] Chr6:159784825 [GRCh38]
Chr6:160205857 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1112C>T (p.Thr371Met) single nucleotide variant not specified [RCV004231039] Chr6:159780073 [GRCh38]
Chr6:160201105 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_005891.3(ACAT2):c.1105A>G (p.Thr369Ala) single nucleotide variant not specified [RCV004276400] Chr6:159778740 [GRCh38]
Chr6:160199772 [GRCh37]
Chr6:6q25.3		 likely benign
NM_005891.3(ACAT2):c.1126A>G (p.Ser376Gly) single nucleotide variant not specified [RCV004311134] Chr6:159778761 [GRCh38]
Chr6:160199793 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1450A>C (p.Lys484Gln) single nucleotide variant not specified [RCV004264785] Chr6:159779631 [GRCh38]
Chr6:160200663 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.257T>C (p.Val86Ala) single nucleotide variant not specified [RCV004281020] Chr6:159787765 [GRCh38]
Chr6:160208797 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.388C>T (p.Arg130Cys) single nucleotide variant not specified [RCV004290626] Chr6:159785486 [GRCh38]
Chr6:160206518 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.250A>G (p.Lys84Glu) single nucleotide variant not specified [RCV004335558] Chr6:159787772 [GRCh38]
Chr6:160208804 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1049A>T (p.Glu350Val) single nucleotide variant not specified [RCV004347896] Chr6:159780491 [GRCh38]
Chr6:160201523 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.688G>A (p.Val230Ile) single nucleotide variant not specified [RCV004338864] Chr6:159784050 [GRCh38]
Chr6:160205082 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.178A>G (p.Thr60Ala) single nucleotide variant not specified [RCV004342244] Chr6:159787844 [GRCh38]
Chr6:160208876 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 copy number loss See cases [RCV004442824] Chr6:152853218..170914297 [GRCh37]
Chr6:6q25.2-27		 pathogenic
NM_030752.3(TCP1):c.1075G>C (p.Asp359His) single nucleotide variant not specified [RCV004466657] Chr6:159780465 [GRCh38]
Chr6:160201497 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.51C>G (p.Ile17Met) single nucleotide variant not specified [RCV004466659] Chr6:159789418 [GRCh38]
Chr6:160210450 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.365G>A (p.Arg122Gln) single nucleotide variant not specified [RCV004466658] Chr6:159785912 [GRCh38]
Chr6:160206944 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.68T>C (p.Met23Thr) single nucleotide variant not specified [RCV004466661] Chr6:159788140 [GRCh38]
Chr6:160209172 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.769C>T (p.Pro257Ser) single nucleotide variant not specified [RCV004675666] Chr6:159783969 [GRCh38]
Chr6:160205001 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.1639G>A (p.Asp547Asn) single nucleotide variant not specified [RCV004675664] Chr6:159779077 [GRCh38]
Chr6:160200109 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.183C>G (p.Ile61Met) single nucleotide variant not specified [RCV004682108] Chr6:159787839 [GRCh38]
Chr6:160208871 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.398A>G (p.Asn133Ser) single nucleotide variant not specified [RCV004682109] Chr6:159785476 [GRCh38]
Chr6:160206508 [GRCh37]
Chr6:6q25.3		 likely benign
NM_030752.3(TCP1):c.826C>G (p.Gln276Glu) single nucleotide variant not specified [RCV004675663] Chr6:159781082 [GRCh38]
Chr6:160202114 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.112C>G (p.Pro38Ala) single nucleotide variant not specified [RCV004675665] Chr6:159788096 [GRCh38]
Chr6:160209128 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_030752.3(TCP1):c.809T>C (p.Ile270Thr) single nucleotide variant not specified [RCV004675667] Chr6:159781099 [GRCh38]
Chr6:160202131 [GRCh37]
Chr6:6q25.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1883
Count of miRNA genes:944
Interacting mature miRNAs:1114
Transcripts:ENST00000321394, ENST00000392168, ENST00000420894, ENST00000467544, ENST00000536394, ENST00000536607, ENST00000536807, ENST00000537390, ENST00000538128, ENST00000538530, ENST00000539756, ENST00000539948, ENST00000543517, ENST00000543532, ENST00000544255, ENST00000545764, ENST00000546023, ENST00000546204
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407314887GWAS963863_Hlipoprotein A measurement QTL GWAS963863 (human)4e-74lipoprotein A measurement6159786813159786814Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human

Markers in Region
SHGC-36020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,095,903 - 20,096,010UniSTSGRCh37
GRCh376160,200,019 - 160,200,126UniSTSGRCh37
Build 366160,120,009 - 160,120,116RGDNCBI36
Celera1225,251,034 - 25,251,141UniSTS
Celera6160,846,096 - 160,846,203RGD
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map12p12.2UniSTS
Cytogenetic Map6q25.3-q26UniSTS
HuRef1219,867,573 - 19,867,680UniSTS
HuRef6157,670,262 - 157,670,369UniSTS
GeneMap99-G3 RH Map121096.0UniSTS
G06897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,200,674 - 160,200,959UniSTSGRCh37
Build 366160,120,664 - 160,120,949RGDNCBI36
Celera6160,846,751 - 160,847,036RGD
Cytogenetic Map6q25.3-q26UniSTS
HuRef6157,670,917 - 157,671,202UniSTS
D6S1840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,199,843 - 160,199,974UniSTSGRCh37
Build 366160,119,833 - 160,119,964RGDNCBI36
Celera6160,845,920 - 160,846,051RGD
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6q25.3-q26UniSTS
HuRef6157,670,086 - 157,670,217UniSTS
Stanford-G3 RH Map66368.0UniSTS
GeneMap99-GB4 RH Map6622.06UniSTS
NCBI RH Map61631.6UniSTS
GeneMap99-G3 RH Map66671.0UniSTS
GDB:451649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,201,507 - 160,202,102UniSTSGRCh37
Celera6160,847,584 - 160,848,179UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6q25.3-q26UniSTS
HuRef6157,671,750 - 157,672,345UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000321394   ⟹   ENSP00000317334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,778,498 - 159,789,602 (-)Ensembl
Ensembl Acc Id: ENST00000392168   ⟹   ENSP00000376008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,778,987 - 159,789,703 (-)Ensembl
Ensembl Acc Id: ENST00000420894   ⟹   ENSP00000390159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,778,985 - 159,789,572 (-)Ensembl
Ensembl Acc Id: ENST00000467544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,784,676 - 159,785,871 (-)Ensembl
Ensembl Acc Id: ENST00000536394   ⟹   ENSP00000442856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,785,937 - 159,788,868 (-)Ensembl
Ensembl Acc Id: ENST00000536607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,787,744 - 159,789,576 (-)Ensembl
Ensembl Acc Id: ENST00000536807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,781,025 - 159,785,325 (-)Ensembl
Ensembl Acc Id: ENST00000537390   ⟹   ENSP00000437840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,785,474 - 159,789,672 (-)Ensembl
Ensembl Acc Id: ENST00000538128   ⟹   ENSP00000442185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,784,799 - 159,789,672 (-)Ensembl
Ensembl Acc Id: ENST00000538530   ⟹   ENSP00000440617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,783,990 - 159,789,584 (-)Ensembl
Ensembl Acc Id: ENST00000539756   ⟹   ENSP00000441345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,779,916 - 159,789,585 (-)Ensembl
Ensembl Acc Id: ENST00000539948   ⟹   ENSP00000439671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,785,400 - 159,788,439 (-)Ensembl
Ensembl Acc Id: ENST00000543517   ⟹   ENSP00000444423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,784,811 - 159,789,602 (-)Ensembl
Ensembl Acc Id: ENST00000543532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,783,990 - 159,789,672 (-)Ensembl
Ensembl Acc Id: ENST00000544255   ⟹   ENSP00000439447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,778,964 - 159,789,596 (-)Ensembl
Ensembl Acc Id: ENST00000545764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,785,418 - 159,788,274 (-)Ensembl
Ensembl Acc Id: ENST00000546023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,788,437 - 159,789,673 (-)Ensembl
Ensembl Acc Id: ENST00000546204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,779,592 - 159,780,261 (-)Ensembl
RefSeq Acc Id: NM_001008897   ⟹   NP_001008897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,778,498 - 159,789,602 (-)NCBI
GRCh376160,199,530 - 160,212,135 (-)NCBI
Build 366160,119,520 - 160,130,725 (-)NCBI Archive
HuRef6157,669,773 - 157,680,978 (-)ENTREZGENE
CHM1_16160,461,821 - 160,473,042 (-)NCBI
T2T-CHM13v2.06161,024,115 - 161,035,234 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030752   ⟹   NP_110379
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,778,498 - 159,789,602 (-)NCBI
GRCh376160,199,530 - 160,212,135 (-)NCBI
Build 366160,119,520 - 160,130,725 (-)NCBI Archive
HuRef6157,669,773 - 157,680,978 (-)ENTREZGENE
CHM1_16160,461,821 - 160,473,042 (-)NCBI
T2T-CHM13v2.06161,024,115 - 161,035,234 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001008897   ⟸   NM_001008897
- Peptide Label: isoform b
- UniProtKB: E7EQR6 (UniProtKB/TrEMBL),   F5H282 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_110379   ⟸   NM_030752
- Peptide Label: isoform a
- UniProtKB: Q15556 (UniProtKB/Swiss-Prot),   E1P5B2 (UniProtKB/Swiss-Prot),   Q5TCM3 (UniProtKB/Swiss-Prot),   P17987 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000444423   ⟸   ENST00000543517
Ensembl Acc Id: ENSP00000439447   ⟸   ENST00000544255
Ensembl Acc Id: ENSP00000317334   ⟸   ENST00000321394
Ensembl Acc Id: ENSP00000442856   ⟸   ENST00000536394
Ensembl Acc Id: ENSP00000437840   ⟸   ENST00000537390
Ensembl Acc Id: ENSP00000442185   ⟸   ENST00000538128
Ensembl Acc Id: ENSP00000440617   ⟸   ENST00000538530
Ensembl Acc Id: ENSP00000376008   ⟸   ENST00000392168
Ensembl Acc Id: ENSP00000439671   ⟸   ENST00000539948
Ensembl Acc Id: ENSP00000441345   ⟸   ENST00000539756
Ensembl Acc Id: ENSP00000390159   ⟸   ENST00000420894

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17987-F1-model_v2 AlphaFold P17987 1-556 view protein structure

Promoters
RGD ID:7209593
Promoter ID:EPDNEW_H10541
Type:initiation region
Name:TCP1_1
Description:t-complex 1
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
GRCh386159,789,602 - 159,789,662EPDNEW
RGD ID:6804846
Promoter ID:HG_KWN:55659
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000042918
Position:
Human AssemblyChrPosition (strand)Source
Build 366160,127,311 - 160,127,862 (-)MPROMDB
RGD ID:6803939
Promoter ID:HG_KWN:55660
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_001008897,   OTTHUMT00000042917,   OTTHUMT00000042925,   OTTHUMT00000042926,   OTTHUMT00000042927,   OTTHUMT00000042928,   UC003QST.1,   UC010KJZ.1,   UC010KKA.1,   UC010KKB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366160,129,661 - 160,131,702 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11655 AgrOrtholog
COSMIC TCP1 COSMIC
Ensembl Genes ENSG00000120438 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321394 ENTREZGENE
  ENST00000321394.12 UniProtKB/Swiss-Prot
  ENST00000392168 ENTREZGENE
  ENST00000392168.6 UniProtKB/TrEMBL
  ENST00000420894.6 UniProtKB/TrEMBL
  ENST00000536394.1 UniProtKB/TrEMBL
  ENST00000537390.5 UniProtKB/TrEMBL
  ENST00000538128.5 UniProtKB/TrEMBL
  ENST00000538530.5 UniProtKB/TrEMBL
  ENST00000539756.1 UniProtKB/TrEMBL
  ENST00000539948.5 UniProtKB/TrEMBL
  ENST00000543517.5 UniProtKB/TrEMBL
  ENST00000544255.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120438 GTEx
HGNC ID HGNC:11655 ENTREZGENE
Human Proteome Map TCP1 Human Proteome Map
InterPro Chap_CCT_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperone_TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperonin_TCP-1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GROEL-like_equatorial_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1_chaperonin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6950 UniProtKB/Swiss-Prot
NCBI Gene 6950 ENTREZGENE
OMIM 186980 OMIM
PANTHER PTHR11353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-COMPLEX PROTEIN 1 SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36406 PharmGKB
PRINTS TCOMPLEXTCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TCP1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E1P5B2 ENTREZGENE
  E7EQR6 ENTREZGENE, UniProtKB/TrEMBL
  E7ERF2_HUMAN UniProtKB/TrEMBL
  F5GYL4_HUMAN UniProtKB/TrEMBL
  F5GZ03_HUMAN UniProtKB/TrEMBL
  F5GZI8_HUMAN UniProtKB/TrEMBL
  F5H136_HUMAN UniProtKB/TrEMBL
  F5H282 ENTREZGENE, UniProtKB/TrEMBL
  F5H676_HUMAN UniProtKB/TrEMBL
  F5H726_HUMAN UniProtKB/TrEMBL
  F5H7Y1_HUMAN UniProtKB/TrEMBL
  P17987 ENTREZGENE
  Q15556 ENTREZGENE
  Q5TCM3 ENTREZGENE
  TCPA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E1P5B2 UniProtKB/Swiss-Prot
  Q15556 UniProtKB/Swiss-Prot
  Q5TCM3 UniProtKB/Swiss-Prot