TNPO1 (transportin 1) - Rat Genome Database

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Gene: TNPO1 (transportin 1) Homo sapiens
Analyze
Symbol: TNPO1
Name: transportin 1
RGD ID: 1318103
HGNC Page HGNC:6401
Description: Enables RNA binding activity. Involved in protein import into nucleus. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: importin 2; importin beta 2; importin beta-2; IPO2; karyopherin (importin) beta 2; karyopherin beta-2; KPNB2; M9 region interaction protein; MIP; MIP1; transportin-1; TRN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TNPO1P1   TNPO1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38572,816,661 - 72,914,388 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl572,816,312 - 72,916,733 (+)EnsemblGRCh38hg38GRCh38
GRCh37572,112,488 - 72,210,215 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36572,148,174 - 72,245,971 (+)NCBINCBI36Build 36hg18NCBI36
Celera568,007,813 - 68,105,601 (+)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef567,317,777 - 67,415,712 (+)NCBIHuRef
CHM1_1571,545,168 - 71,642,989 (+)NCBICHM1_1
T2T-CHM13v2.0573,297,810 - 73,395,474 (+)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
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
acrolein  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
cadmium sulfate  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
hydrogen peroxide  (EXP)
ionomycin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
lipopolysaccharide  (EXP)
manumycin A  (EXP)
methamphetamine  (ISO)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
N-acetyl-L-cysteine  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
uranium atom  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cilium  (TAS)
cytoplasm  (IBA,IEA,TAS)
cytosol  (TAS)
extracellular exosome  (HDA)
nucleus  (IBA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1631159   PMID:7604027   PMID:8105392   PMID:8521471   PMID:8808633   PMID:8986607   PMID:9144189   PMID:9202393   PMID:9275210   PMID:9298975   PMID:9366553   PMID:9405152  
PMID:9430704   PMID:9436978   PMID:9463369   PMID:9562972   PMID:9582382   PMID:9621063   PMID:9632798   PMID:9687515   PMID:9817747   PMID:9891055   PMID:10202161   PMID:10353245  
PMID:10366569   PMID:10525473   PMID:10668806   PMID:10688363   PMID:10772949   PMID:10860744   PMID:10875935   PMID:10888652   PMID:10944119   PMID:11024021   PMID:11035935   PMID:11278458  
PMID:11389849   PMID:11682607   PMID:11774384   PMID:11824786   PMID:12368302   PMID:12384575   PMID:12414950   PMID:12477932   PMID:12551970   PMID:12614157   PMID:12620808   PMID:12905863  
PMID:14702039   PMID:15037768   PMID:15047060   PMID:15342649   PMID:15489334   PMID:15507604   PMID:16704975   PMID:17342744   PMID:17435768   PMID:17474147   PMID:17586317   PMID:17643375  
PMID:17936704   PMID:17997969   PMID:18445273   PMID:18570454   PMID:18846510   PMID:19057841   PMID:19124606   PMID:19275582   PMID:19549784   PMID:19641022   PMID:20015032   PMID:20308327  
PMID:20467437   PMID:20606625   PMID:21081666   PMID:21285245   PMID:21326825   PMID:21489275   PMID:21808065   PMID:21873635   PMID:21965294   PMID:21983832   PMID:22174317   PMID:22442722  
PMID:22509482   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22783232   PMID:22810586   PMID:22842875   PMID:22863883   PMID:22934812   PMID:22939629   PMID:22968170  
PMID:23012356   PMID:23022380   PMID:23027611   PMID:23056579   PMID:23181366   PMID:23266416   PMID:23333309   PMID:23455922   PMID:23535894   PMID:23667531   PMID:23956138   PMID:24200467  
PMID:24711643   PMID:24753571   PMID:24780099   PMID:25921289   PMID:26052940   PMID:26056081   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26760575   PMID:26777405  
PMID:26831064   PMID:26972000   PMID:27173435   PMID:27342126   PMID:27381509   PMID:27432908   PMID:27528606   PMID:27618664   PMID:27633000   PMID:27684187   PMID:27794479   PMID:27913144  
PMID:28514442   PMID:28675297   PMID:28685749   PMID:28700943   PMID:28883622   PMID:28974576   PMID:29117863   PMID:29180619   PMID:29229926   PMID:29377895   PMID:29395067   PMID:29490077  
PMID:29507755   PMID:29549164   PMID:29677513   PMID:30224337   PMID:30258100   PMID:30619736   PMID:30692667   PMID:30737378   PMID:30833792   PMID:30942445   PMID:30948266   PMID:31067453  
PMID:31073040   PMID:31091453   PMID:31586073   PMID:31594818   PMID:31611641   PMID:31732153   PMID:31839203   PMID:31980649   PMID:31995728   PMID:32041777   PMID:32129710   PMID:32161167  
PMID:32416067   PMID:32545337   PMID:32683582   PMID:32687490   PMID:32691043   PMID:32694731   PMID:32807901   PMID:32873191   PMID:32963011   PMID:33226137   PMID:33239621   PMID:33545068  
PMID:33580145   PMID:33729478   PMID:33742100   PMID:33957083   PMID:33961781   PMID:33987449   PMID:34044070   PMID:34079125   PMID:34373451   PMID:34489423   PMID:34591877   PMID:34687317  
PMID:34709727   PMID:34780483   PMID:34901782   PMID:35227662   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35563538  
PMID:35676246   PMID:35776542   PMID:35785414   PMID:35831314   PMID:35944360   PMID:35987950   PMID:36057605   PMID:36114006   PMID:36168627   PMID:36180527   PMID:36215168   PMID:36232890  
PMID:36261009   PMID:36273042   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36529289   PMID:36538041   PMID:36543142   PMID:36584595   PMID:36690276   PMID:36907439   PMID:37536630  
PMID:37616343   PMID:37774976   PMID:37827155   PMID:38297188  


Genomics

Comparative Map Data
TNPO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38572,816,661 - 72,914,388 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl572,816,312 - 72,916,733 (+)EnsemblGRCh38hg38GRCh38
GRCh37572,112,488 - 72,210,215 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36572,148,174 - 72,245,971 (+)NCBINCBI36Build 36hg18NCBI36
Celera568,007,813 - 68,105,601 (+)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef567,317,777 - 67,415,712 (+)NCBIHuRef
CHM1_1571,545,168 - 71,642,989 (+)NCBICHM1_1
T2T-CHM13v2.0573,297,810 - 73,395,474 (+)NCBIT2T-CHM13v2.0
Tnpo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391398,975,527 - 99,062,851 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1398,975,527 - 99,062,892 (-)EnsemblGRCm39 Ensembl
GRCm381398,839,019 - 98,926,384 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1398,839,019 - 98,926,384 (-)EnsemblGRCm38mm10GRCm38
MGSCv371399,612,036 - 99,696,339 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361399,942,895 - 100,026,500 (-)NCBIMGSCv36mm8
Celera13102,502,817 - 102,586,946 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1352.24NCBI
Tnpo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8231,941,731 - 32,034,366 (-)NCBIGRCr8
mRatBN7.2230,207,529 - 30,300,162 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl230,211,510 - 30,300,375 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx237,268,846 - 37,361,422 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0235,363,201 - 35,455,776 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0230,175,882 - 30,268,487 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0229,056,219 - 29,126,882 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl229,056,219 - 29,121,104 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0248,238,550 - 48,308,427 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4229,482,093 - 29,539,145 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1229,401,327 - 29,490,924 (-)NCBI
Celera226,240,332 - 26,302,645 (-)NCBICelera
Cytogenetic Map2q12NCBI
Tnpo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542527,666,091 - 27,748,920 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542527,666,091 - 27,748,920 (-)NCBIChiLan1.0ChiLan1.0
TNPO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2442,405,424 - 42,511,998 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1540,559,052 - 40,656,791 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0542,404,013 - 42,501,748 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1543,001,210 - 43,098,077 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl543,001,210 - 43,098,077 (-)Ensemblpanpan1.1panPan2
TNPO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1255,795,737 - 55,859,366 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl255,799,907 - 55,851,213 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha252,730,047 - 52,826,981 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0256,278,862 - 56,375,623 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl256,278,940 - 56,370,542 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1253,338,799 - 53,435,381 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0254,107,115 - 54,203,851 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0255,032,870 - 55,094,744 (+)NCBIUU_Cfam_GSD_1.0
Tnpo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213187,147,529 - 187,238,494 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365493,620,479 - 3,711,382 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNPO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1649,048,686 - 49,151,922 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11649,048,686 - 49,151,926 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21653,229,707 - 53,296,875 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TNPO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1467,158,072 - 67,255,843 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl467,158,101 - 67,248,256 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604915,924,492 - 16,018,409 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnpo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249051,909,405 - 1,992,484 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNPO1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002270.3(TNPO1):c.114G>T (p.Gln38His) single nucleotide variant Malignant melanoma [RCV000066985] Chr5:72848483 [GRCh38]
Chr5:72144310 [GRCh37]
Chr5:72180066 [NCBI36]
Chr5:5q13.2
not provided
NM_002270.3(TNPO1):c.221C>T (p.Ser74Leu) single nucleotide variant Malignant melanoma [RCV000066986] Chr5:72855789 [GRCh38]
Chr5:72151616 [GRCh37]
Chr5:72187372 [NCBI36]
Chr5:5q13.2
not provided
NM_002270.3(TNPO1):c.16-9117A>C single nucleotide variant Lung cancer [RCV000096159] Chr5:72839268 [GRCh38]
Chr5:72135095 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.3(TNPO1):c.356-55G>C single nucleotide variant Lung cancer [RCV000096160] Chr5:72861753 [GRCh38]
Chr5:72157580 [GRCh37]
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 5p15.1-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(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [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
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 5q13.2(chr5:72129604-72354897)x3 copy number gain not provided [RCV000744847] Chr5:72129604..72354897 [GRCh37]
Chr5:5q13.2
benign
NM_002270.3(TNPO1):c.338T>C (p.Leu113Pro) single nucleotide variant Esophageal atresia [RCV000984765] Chr5:72855906 [GRCh38]
Chr5:72151733 [GRCh37]
Chr5:5q13.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002270.4(TNPO1):c.1303+7_1303+80del deletion not provided [RCV000950687] Chr5:72887229..72887302 [GRCh38]
Chr5:72183056..72183129 [GRCh37]
Chr5:5q13.2
benign
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
GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3 copy number gain not provided [RCV000846431] Chr5:71721970..72431813 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3 copy number gain not provided [RCV000846432] Chr5:71721970..72431813 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1748T>C (p.Met583Thr) single nucleotide variant Inborn genetic diseases [RCV003277186] Chr5:72891856 [GRCh38]
Chr5:72187683 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.2432A>G (p.Asn811Ser) single nucleotide variant Inborn genetic diseases [RCV002704894] Chr5:72900991 [GRCh38]
Chr5:72196818 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1904A>G (p.Asn635Ser) single nucleotide variant Inborn genetic diseases [RCV002693667] Chr5:72893384 [GRCh38]
Chr5:72189211 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.2255A>G (p.Gln752Arg) single nucleotide variant Inborn genetic diseases [RCV002763273] Chr5:72897068 [GRCh38]
Chr5:72192895 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1451C>T (p.Thr484Met) single nucleotide variant Inborn genetic diseases [RCV002665408] Chr5:72888225 [GRCh38]
Chr5:72184052 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1369G>A (p.Asp457Asn) single nucleotide variant Inborn genetic diseases [RCV002826450] Chr5:72888143 [GRCh38]
Chr5:72183970 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.831T>G (p.Asp277Glu) single nucleotide variant Inborn genetic diseases [RCV002921799] Chr5:72877257 [GRCh38]
Chr5:72173084 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.2132A>T (p.Lys711Met) single nucleotide variant Inborn genetic diseases [RCV002945073] Chr5:72893692 [GRCh38]
Chr5:72189519 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1095A>C (p.Glu365Asp) single nucleotide variant Inborn genetic diseases [RCV003173850] Chr5:72883177 [GRCh38]
Chr5:72179004 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1037G>A (p.Arg346His) single nucleotide variant Inborn genetic diseases [RCV003198593] Chr5:72883119 [GRCh38]
Chr5:72178946 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1171C>G (p.Leu391Val) single nucleotide variant Inborn genetic diseases [RCV003177925] Chr5:72887090 [GRCh38]
Chr5:72182917 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.2365G>A (p.Val789Ile) single nucleotide variant Inborn genetic diseases [RCV003208447] Chr5:72900032 [GRCh38]
Chr5:72195859 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1358A>G (p.Gln453Arg) single nucleotide variant Inborn genetic diseases [RCV003361418] Chr5:72888132 [GRCh38]
Chr5:72183959 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.19A>T (p.Thr7Ser) single nucleotide variant Inborn genetic diseases [RCV003383160] Chr5:72848388 [GRCh38]
Chr5:72144215 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.448T>C (p.Tyr150His) single nucleotide variant Inborn genetic diseases [RCV003383965] Chr5:72861900 [GRCh38]
Chr5:72157727 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.532C>T (p.Arg178Cys) single nucleotide variant TNPO1-related condition [RCV003399738] Chr5:72865665 [GRCh38]
Chr5:72161492 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_002270.4(TNPO1):c.1017T>C (p.Ser339=) single nucleotide variant TNPO1-related condition [RCV003939356] Chr5:72883099 [GRCh38]
Chr5:72178926 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.916C>T (p.Pro306Ser) single nucleotide variant TNPO1-related condition [RCV003941475] Chr5:72877342 [GRCh38]
Chr5:72173169 [GRCh37]
Chr5:5q13.2
benign
NM_002270.4(TNPO1):c.1599C>T (p.Thr533=) single nucleotide variant TNPO1-related condition [RCV003927165] Chr5:72889855 [GRCh38]
Chr5:72185682 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.-7G>A single nucleotide variant TNPO1-related condition [RCV003921936] Chr5:72816731 [GRCh38]
Chr5:72112558 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.1668A>G (p.Leu556=) single nucleotide variant TNPO1-related condition [RCV003903954] Chr5:72889924 [GRCh38]
Chr5:72185751 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.355+8A>G single nucleotide variant TNPO1-related condition [RCV003909651] Chr5:72855931 [GRCh38]
Chr5:72151758 [GRCh37]
Chr5:5q13.2
benign
NM_002270.4(TNPO1):c.360T>C (p.Ile120=) single nucleotide variant TNPO1-related condition [RCV003954471] Chr5:72861812 [GRCh38]
Chr5:72157639 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.2544A>G (p.Ala848=) single nucleotide variant TNPO1-related condition [RCV003933981] Chr5:72903738 [GRCh38]
Chr5:72199565 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.2217A>G (p.Ala739=) single nucleotide variant TNPO1-related condition [RCV003973959] Chr5:72896531 [GRCh38]
Chr5:72192358 [GRCh37]
Chr5:5q13.2
benign
NM_002270.4(TNPO1):c.1304-10T>G single nucleotide variant TNPO1-related condition [RCV003911859] Chr5:72888068 [GRCh38]
Chr5:72183895 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.477C>T (p.Ala159=) single nucleotide variant TNPO1-related condition [RCV003921958] Chr5:72865610 [GRCh38]
Chr5:72161437 [GRCh37]
Chr5:5q13.2
likely benign
NM_002270.4(TNPO1):c.1529+9G>C single nucleotide variant TNPO1-related condition [RCV003904631] Chr5:72888312 [GRCh38]
Chr5:72184139 [GRCh37]
Chr5:5q13.2
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pMirtarbaseexternal_infoProteomicsFunctional MTI (Weak)21310411

Predicted Target Of
Summary Value
Count of predictions:5742
Count of miRNA genes:1293
Interacting mature miRNAs:1652
Transcripts:ENST00000337273, ENST00000447967, ENST00000454282, ENST00000503084, ENST00000505082, ENST00000506351, ENST00000506528, ENST00000508762, ENST00000509030, ENST00000511754, ENST00000513944, ENST00000515483, ENST00000518279, ENST00000520850, ENST00000523768, ENST00000605210
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.

Markers in Region
D5S357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,158,734 - 72,158,893UniSTSGRCh37
Build 36572,194,490 - 72,194,649RGDNCBI36
Celera568,054,132 - 68,054,291RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,364,158 - 67,364,319UniSTS
Marshfield Genetic Map581.95RGD
Marshfield Genetic Map581.95UniSTS
deCODE Assembly Map583.97UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH79799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,209,941 - 72,210,190UniSTSGRCh37
Build 36572,245,697 - 72,245,946RGDNCBI36
Celera568,105,327 - 68,105,576RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,415,438 - 67,415,687UniSTS
RH45742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,205,887 - 72,206,037UniSTSGRCh37
Build 36572,241,643 - 72,241,793RGDNCBI36
Celera568,101,273 - 68,101,423RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,411,384 - 67,411,534UniSTS
GeneMap99-GB4 RH Map5359.67UniSTS
NCBI RH Map5313.3UniSTS
SHGC-31301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,205,419 - 72,205,544UniSTSGRCh37
Build 36572,241,175 - 72,241,300RGDNCBI36
Celera568,100,805 - 68,100,930RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,410,916 - 67,411,041UniSTS
Stanford-G3 RH Map52561.0UniSTS
GeneMap99-G3 RH Map52556.0UniSTS
WI-13973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,204,614 - 72,204,763UniSTSGRCh37
Build 36572,240,370 - 72,240,519RGDNCBI36
Celera568,100,001 - 68,100,150RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,410,111 - 67,410,260UniSTS
GeneMap99-GB4 RH Map5340.62UniSTS
Whitehead-RH Map5244.9UniSTS
NCBI RH Map5331.9UniSTS
D5S2552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,201,918 - 72,202,085UniSTSGRCh37
Build 36572,237,674 - 72,237,841RGDNCBI36
Celera568,097,315 - 68,097,482RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,407,425 - 67,407,592UniSTS
Stanford-G3 RH Map52566.0UniSTS
STS-R76240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,209,795 - 72,209,916UniSTSGRCh37
Build 36572,245,551 - 72,245,672RGDNCBI36
Celera568,105,181 - 68,105,302RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,415,292 - 67,415,413UniSTS
GeneMap99-GB4 RH Map5356.97UniSTS
D5S2535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,201,776 - 72,201,946UniSTSGRCh37
Build 36572,237,532 - 72,237,702RGDNCBI36
Celera568,097,173 - 68,097,343RGD
Cytogenetic Map5q13.2UniSTS
HuRef567,407,283 - 67,407,453UniSTS
RH27246  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q13.2UniSTS
TNPO1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,189,301 - 72,189,515UniSTSGRCh37
GRCh371086,151,100 - 86,151,234UniSTSGRCh37
Celera568,084,699 - 68,084,913UniSTS
Celera1080,146,037 - 80,146,171UniSTS
HuRef1079,996,530 - 79,996,664UniSTS
HuRef567,394,807 - 67,395,021UniSTS


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 2269 1850 1435 359 1367 204 3940 1613 1999 327 1430 1610 171 1 1186 2483 6 2
Low 170 1139 291 265 582 261 417 584 1735 91 30 3 4 18 305
Below cutoff 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001364292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC035140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000337273   ⟹   ENSP00000336712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,661 - 72,914,388 (+)Ensembl
RefSeq Acc Id: ENST00000503084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,900,874 - 72,908,913 (+)Ensembl
RefSeq Acc Id: ENST00000505082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,872,668 - 72,887,210 (+)Ensembl
RefSeq Acc Id: ENST00000506351   ⟹   ENSP00000425118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,848,184 - 72,908,951 (+)Ensembl
RefSeq Acc Id: ENST00000506528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,848,385 - 72,872,720 (+)Ensembl
RefSeq Acc Id: ENST00000508762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,871,747 - 72,883,099 (+)Ensembl
RefSeq Acc Id: ENST00000509030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,848,385 - 72,862,396 (+)Ensembl
RefSeq Acc Id: ENST00000511754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,848,385 - 72,865,731 (+)Ensembl
RefSeq Acc Id: ENST00000513944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,848,170 - 72,861,915 (+)Ensembl
RefSeq Acc Id: ENST00000515483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,624 - 72,855,916 (+)Ensembl
RefSeq Acc Id: ENST00000518279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,793 - 72,865,693 (+)Ensembl
RefSeq Acc Id: ENST00000520850   ⟹   ENSP00000430312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,649 - 72,883,097 (+)Ensembl
RefSeq Acc Id: ENST00000523768   ⟹   ENSP00000428899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,672 - 72,905,429 (+)Ensembl
RefSeq Acc Id: ENST00000605210   ⟹   ENSP00000474059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,893,676 - 72,905,580 (+)Ensembl
RefSeq Acc Id: ENST00000679378   ⟹   ENSP00000506620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,848,121 - 72,914,368 (+)Ensembl
RefSeq Acc Id: ENST00000680025   ⟹   ENSP00000505584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,669 - 72,914,368 (+)Ensembl
RefSeq Acc Id: ENST00000680111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,895,459 - 72,914,368 (+)Ensembl
RefSeq Acc Id: ENST00000680533   ⟹   ENSP00000505688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,312 - 72,916,733 (+)Ensembl
RefSeq Acc Id: ENST00000681711   ⟹   ENSP00000505378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl572,816,695 - 72,914,368 (+)Ensembl
RefSeq Acc Id: NM_001364292   ⟹   NP_001351221
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,816,661 - 72,914,388 (+)NCBI
T2T-CHM13v2.0573,297,810 - 73,395,474 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364293   ⟹   NP_001351222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,848,139 - 72,914,388 (+)NCBI
T2T-CHM13v2.0573,329,292 - 73,395,474 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364294   ⟹   NP_001351223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,848,139 - 72,914,388 (+)NCBI
T2T-CHM13v2.0573,329,292 - 73,395,474 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364295   ⟹   NP_001351224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,816,661 - 72,914,388 (+)NCBI
T2T-CHM13v2.0573,297,810 - 73,395,474 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364296   ⟹   NP_001351225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,848,139 - 72,866,848 (+)NCBI
T2T-CHM13v2.0573,329,292 - 73,348,009 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002270   ⟹   NP_002261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,816,661 - 72,914,388 (+)NCBI
GRCh37572,112,418 - 72,210,215 (+)ENTREZGENE
GRCh37572,112,418 - 72,210,215 (+)NCBI
Build 36572,148,174 - 72,245,971 (+)NCBI Archive
HuRef567,317,777 - 67,415,712 (+)ENTREZGENE
CHM1_1571,545,168 - 71,642,989 (+)NCBI
T2T-CHM13v2.0573,297,810 - 73,395,474 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153188   ⟹   NP_694858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,848,139 - 72,914,388 (+)NCBI
GRCh37572,112,418 - 72,210,215 (+)ENTREZGENE
GRCh37572,112,418 - 72,210,215 (+)NCBI
Build 36572,179,686 - 72,245,971 (+)NCBI Archive
HuRef567,317,777 - 67,415,712 (+)ENTREZGENE
CHM1_1571,576,705 - 71,642,989 (+)NCBI
T2T-CHM13v2.0573,329,292 - 73,395,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248501   ⟹   XP_005248558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,816,661 - 72,914,388 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417167   ⟹   XP_047273123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,816,661 - 72,905,580 (+)NCBI
RefSeq Acc Id: XM_047417168   ⟹   XP_047273124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,848,139 - 72,914,388 (+)NCBI
RefSeq Acc Id: XM_054352565   ⟹   XP_054208540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0573,297,810 - 73,386,674 (+)NCBI
RefSeq Acc Id: XM_054352566   ⟹   XP_054208541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0573,297,810 - 73,395,474 (+)NCBI
RefSeq Acc Id: XM_054352567   ⟹   XP_054208542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0573,329,292 - 73,395,474 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001351221 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351222 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351223 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351224 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351225 (Get FASTA)   NCBI Sequence Viewer  
  NP_002261 (Get FASTA)   NCBI Sequence Viewer  
  NP_694858 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248558 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273123 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208541 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208542 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58254 (Get FASTA)   NCBI Sequence Viewer  
  AAB68948 (Get FASTA)   NCBI Sequence Viewer  
  AAC50723 (Get FASTA)   NCBI Sequence Viewer  
  AAH40340 (Get FASTA)   NCBI Sequence Viewer  
  BAG61582 (Get FASTA)   NCBI Sequence Viewer  
  BAG62638 (Get FASTA)   NCBI Sequence Viewer  
  EAW95713 (Get FASTA)   NCBI Sequence Viewer  
  EAW95714 (Get FASTA)   NCBI Sequence Viewer  
  EAW95715 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000336712
  ENSP00000336712.5
  ENSP00000425118
  ENSP00000425118.2
  ENSP00000428899
  ENSP00000428899.1
  ENSP00000430312.1
  ENSP00000474059.1
  ENSP00000505378.1
  ENSP00000505584.1
  ENSP00000505688.1
  ENSP00000506620
  ENSP00000506620.1
GenBank Protein Q92973 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002261   ⟸   NM_002270
- Peptide Label: isoform 1
- UniProtKB: Q92957 (UniProtKB/Swiss-Prot),   B4DVC6 (UniProtKB/Swiss-Prot),   Q92975 (UniProtKB/Swiss-Prot),   Q92973 (UniProtKB/Swiss-Prot),   A0A7P0T944 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_694858   ⟸   NM_153188
- Peptide Label: isoform 2
- UniProtKB: A0A7P0T944 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248558   ⟸   XM_005248501
- Peptide Label: isoform X2
- UniProtKB: A0A7P0T944 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351221   ⟸   NM_001364292
- Peptide Label: isoform 2
- UniProtKB: A0A7P0T944 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351224   ⟸   NM_001364295
- Peptide Label: isoform 4
- UniProtKB: A0A7P0T944 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351223   ⟸   NM_001364294
- Peptide Label: isoform 3
- UniProtKB: A0A7P0TBF0 (UniProtKB/TrEMBL),   A0A7P0T944 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351222   ⟸   NM_001364293
- Peptide Label: isoform 2
- UniProtKB: A0A7P0T944 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351225   ⟸   NM_001364296
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000425118   ⟸   ENST00000506351
RefSeq Acc Id: ENSP00000336712   ⟸   ENST00000337273
RefSeq Acc Id: ENSP00000430312   ⟸   ENST00000520850
RefSeq Acc Id: ENSP00000428899   ⟸   ENST00000523768
RefSeq Acc Id: ENSP00000474059   ⟸   ENST00000605210
RefSeq Acc Id: ENSP00000505378   ⟸   ENST00000681711
RefSeq Acc Id: ENSP00000506620   ⟸   ENST00000679378
RefSeq Acc Id: ENSP00000505584   ⟸   ENST00000680025
RefSeq Acc Id: ENSP00000505688   ⟸   ENST00000680533
RefSeq Acc Id: XP_047273123   ⟸   XM_047417167
- Peptide Label: isoform X1
- UniProtKB: Q92973 (UniProtKB/Swiss-Prot),   Q92957 (UniProtKB/Swiss-Prot),   B4DVC6 (UniProtKB/Swiss-Prot),   Q92975 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273124   ⟸   XM_047417168
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TBF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208541   ⟸   XM_054352566
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208540   ⟸   XM_054352565
- Peptide Label: isoform X1
- UniProtKB: Q92973 (UniProtKB/Swiss-Prot),   Q92957 (UniProtKB/Swiss-Prot),   B4DVC6 (UniProtKB/Swiss-Prot),   Q92975 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054208542   ⟸   XM_054352567
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TBF0 (UniProtKB/TrEMBL)
Protein Domains
Importin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92973-F1-model_v2 AlphaFold Q92973 1-898 view protein structure

Promoters
RGD ID:6803615
Promoter ID:HG_KWN:50442
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:ENST00000337273
Position:
Human AssemblyChrPosition (strand)Source
Build 36572,148,056 - 72,148,556 (+)MPROMDB
RGD ID:6851876
Promoter ID:EP73744
Type:initiation region
Name:HS_KPNB2
Description:Karyopherin (importin) beta 2 , transcript variant 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36572,148,255 - 72,148,315EPD
RGD ID:6803616
Promoter ID:HG_KWN:50443
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_153188,   UC003KCG.2,   UC003KCH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36572,179,596 - 72,180,096 (+)MPROMDB
RGD ID:6869856
Promoter ID:EPDNEW_H8093
Type:initiation region
Name:TNPO1_2
Description:transportin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8094  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,816,661 - 72,816,721EPDNEW
RGD ID:6869858
Promoter ID:EPDNEW_H8094
Type:initiation region
Name:TNPO1_1
Description:transportin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8093  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,848,139 - 72,848,199EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6401 AgrOrtholog
COSMIC TNPO1 COSMIC
Ensembl Genes ENSG00000083312 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000337273 ENTREZGENE
  ENST00000337273.10 UniProtKB/Swiss-Prot
  ENST00000506351 ENTREZGENE
  ENST00000506351.6 UniProtKB/Swiss-Prot
  ENST00000520850.5 UniProtKB/TrEMBL
  ENST00000523768 ENTREZGENE
  ENST00000523768.5 UniProtKB/Swiss-Prot
  ENST00000605210.1 UniProtKB/TrEMBL
  ENST00000679378 ENTREZGENE
  ENST00000679378.1 UniProtKB/TrEMBL
  ENST00000680025.1 UniProtKB/TrEMBL
  ENST00000680533.1 UniProtKB/TrEMBL
  ENST00000681711.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000083312 GTEx
HGNC ID HGNC:6401 ENTREZGENE
Human Proteome Map TNPO1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Importin-beta_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Importin_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3842 UniProtKB/Swiss-Prot
NCBI Gene 3842 ENTREZGENE
OMIM 602901 OMIM
PANTHER PTHR10527 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSPORTIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT_EZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IBN_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30192 PharmGKB
PROSITE IMPORTIN_B_NT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IBN_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T944 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T9C0_HUMAN UniProtKB/TrEMBL
  A0A7P0TBF0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0Z4D3_HUMAN UniProtKB/TrEMBL
  B4DVC6 ENTREZGENE
  E7EW37_HUMAN UniProtKB/TrEMBL
  Q92957 ENTREZGENE
  Q92973 ENTREZGENE
  Q92975 ENTREZGENE
  S4R398_HUMAN UniProtKB/TrEMBL
  TNPO1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DVC6 UniProtKB/Swiss-Prot
  Q92957 UniProtKB/Swiss-Prot
  Q92975 UniProtKB/Swiss-Prot