TXNL1 (thioredoxin like 1) - Rat Genome Database

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Gene: TXNL1 (thioredoxin like 1) Homo sapiens
Analyze
Symbol: TXNL1
Name: thioredoxin like 1
RGD ID: 1354026
HGNC Page HGNC:12436
Description: Enables disulfide oxidoreductase activity. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 32 kDa thioredoxin-related protein; epididymis secretory protein Li 114; HEL-S-114; thioredoxin-like 1; thioredoxin-like protein 1; thioredoxin-related 32 kDa protein; thioredoxin-related protein 1; TRP32; Txl; TXL-1; TXNL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TXNL1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381856,597,209 - 56,638,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1856,597,209 - 56,651,600 (-)EnsemblGRCh38hg38GRCh38
GRCh371854,264,440 - 54,305,823 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361852,421,051 - 52,456,874 (-)NCBINCBI36Build 36hg18NCBI36
Build 341852,421,050 - 52,456,874NCBI
Celera1850,987,191 - 51,023,052 (-)NCBICelera
Cytogenetic Map18q21.31NCBI
HuRef1850,981,411 - 51,017,287 (-)NCBIHuRef
CHM1_11854,265,556 - 54,301,403 (-)NCBICHM1_1
T2T-CHM13v2.01856,799,245 - 56,840,564 (-)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
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
choline  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
methimazole  (ISO)
miconazole  (ISO)
microcystin RR  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (EXP)
phosgene  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
tebuconazole  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,IEA)
nucleus  (IEA)
proteasome complex  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Purification, molecular cloning, and characterization of TRP32, a novel thioredoxin-related mammalian protein of 32 kDa. Lee KK, etal., J Biol Chem 1998 Jul 24;273(30):19160-6.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9473519   PMID:10826702   PMID:11985582   PMID:12477932   PMID:12665801   PMID:14702039   PMID:14744259   PMID:15489334   PMID:16196087   PMID:16231315   PMID:16236267   PMID:16344560  
PMID:16385451   PMID:16438969   PMID:17987124   PMID:18029348   PMID:18654987   PMID:19013454   PMID:19349277   PMID:19349280   PMID:19615732   PMID:19781552   PMID:20455272   PMID:21290163  
PMID:21873635   PMID:22645313   PMID:22863883   PMID:22939629   PMID:23362275   PMID:23376485   PMID:24525731   PMID:24811749   PMID:25158072   PMID:25277244   PMID:25737280   PMID:25900982  
PMID:25921289   PMID:26344197   PMID:26496610   PMID:27114451   PMID:27437069   PMID:27872092   PMID:28292943   PMID:28515276   PMID:28675297   PMID:28775156   PMID:28902428   PMID:29395067  
PMID:29467281   PMID:29568061   PMID:29791485   PMID:30415952   PMID:30425250   PMID:30463901   PMID:30862715   PMID:31177093   PMID:31470122   PMID:31478661   PMID:31519766   PMID:31536960  
PMID:31732153   PMID:31871319   PMID:32344865   PMID:32416067   PMID:32457219   PMID:32513696   PMID:32687490   PMID:32723828   PMID:32780723   PMID:32877691   PMID:32963011   PMID:33141564  
PMID:33397691   PMID:33640491   PMID:33729478   PMID:33869196   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34599178   PMID:34709266   PMID:35253629   PMID:35271311   PMID:35439318  
PMID:35696571   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36610398   PMID:36674791   PMID:36779422   PMID:37381005   PMID:37689310   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
TXNL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381856,597,209 - 56,638,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1856,597,209 - 56,651,600 (-)EnsemblGRCh38hg38GRCh38
GRCh371854,264,440 - 54,305,823 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361852,421,051 - 52,456,874 (-)NCBINCBI36Build 36hg18NCBI36
Build 341852,421,050 - 52,456,874NCBI
Celera1850,987,191 - 51,023,052 (-)NCBICelera
Cytogenetic Map18q21.31NCBI
HuRef1850,981,411 - 51,017,287 (-)NCBIHuRef
CHM1_11854,265,556 - 54,301,403 (-)NCBICHM1_1
T2T-CHM13v2.01856,799,245 - 56,840,564 (-)NCBIT2T-CHM13v2.0
Txnl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391863,795,872 - 63,825,535 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1863,794,165 - 63,841,872 (-)EnsemblGRCm39 Ensembl
GRCm381863,662,801 - 63,692,359 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1863,661,094 - 63,708,801 (-)EnsemblGRCm38mm10GRCm38
MGSCv371863,822,455 - 63,852,013 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361863,788,170 - 63,817,728 (-)NCBIMGSCv36mm8
Celera1864,929,954 - 64,959,513 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1837.06NCBI
Txnl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81859,397,275 - 59,428,072 (-)NCBIGRCr8
mRatBN7.21857,125,362 - 57,155,167 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1857,125,369 - 57,165,266 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1859,207,168 - 59,234,005 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01859,924,212 - 59,951,049 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01857,752,119 - 57,778,980 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01859,056,454 - 59,086,278 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1859,059,375 - 59,086,256 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01858,276,626 - 58,304,131 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41859,823,127 - 59,849,853 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11859,896,328 - 59,923,054 (-)NCBI
Celera1855,269,930 - 55,296,882 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Txnl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540241,022,771 - 41,058,727 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540241,022,771 - 41,058,731 (-)NCBIChiLan1.0ChiLan1.0
TXNL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21774,135,337 - 74,184,108 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11859,822,691 - 59,863,743 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01849,988,636 - 50,024,604 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11853,322,604 - 53,358,137 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1853,322,604 - 53,358,137 (-)Ensemblpanpan1.1panPan2
TXNL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1119,171,267 - 19,203,898 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl119,171,314 - 19,203,898 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha120,155,743 - 20,188,486 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0119,054,700 - 19,087,419 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl119,054,696 - 19,088,826 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1119,110,858 - 19,143,732 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0119,006,351 - 19,038,924 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0119,277,297 - 19,310,025 (+)NCBIUU_Cfam_GSD_1.0
Txnl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494432,311,302 - 32,344,583 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364977,550,302 - 7,582,582 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364977,550,307 - 7,583,596 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TXNL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1105,973,641 - 106,013,574 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11105,974,021 - 106,013,408 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21116,722,915 - 116,763,482 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TXNL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11823,087,286 - 23,124,646 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1823,087,389 - 23,116,505 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660602,437,028 - 2,474,840 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Txnl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247922,127,685 - 2,166,400 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247922,128,154 - 2,166,291 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TXNL1
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:55859488-56865425)x1 copy number loss See cases [RCV000050758] Chr18:55859488..56865425 [GRCh38]
Chr18:53526719..54532656 [GRCh37]
Chr18:51677717..52683654 [NCBI36]
Chr18:18q21.2-21.31
uncertain significance
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:54417453-57347792)x1 copy number loss See cases [RCV000053870] Chr18:54417453..57347792 [GRCh38]
Chr18:51943823..55015023 [GRCh37]
Chr18:50197821..53166021 [NCBI36]
Chr18:18q21.2-21.31
pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:55575588-57207463)x1 copy number loss See cases [RCV000053872] Chr18:55575588..57207463 [GRCh38]
Chr18:53242819..54874694 [GRCh37]
Chr18:51393817..53025692 [NCBI36]
Chr18:18q21.2-21.31
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.31(chr18:54216768-54869324)x3 copy number gain not provided [RCV000684007] Chr18:54216768..54869324 [GRCh37]
Chr18:18q21.31
uncertain significance
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31
pathogenic
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31(chr18:54246310-54293658)x3 copy number gain not provided [RCV000739829] Chr18:54246310..54293658 [GRCh37]
Chr18:18q21.31
benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_004786.3(TXNL1):c.495G>C (p.Leu165=) single nucleotide variant not provided [RCV000905221] Chr18:56616312 [GRCh38]
Chr18:54283543 [GRCh37]
Chr18:18q21.31
benign
NM_004786.3(TXNL1):c.563-4A>G single nucleotide variant not provided [RCV000947881] Chr18:56614600 [GRCh38]
Chr18:54281831 [GRCh37]
Chr18:18q21.31
benign
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_004786.3(TXNL1):c.183A>T (p.Val61=) single nucleotide variant not provided [RCV000932951] Chr18:56626373 [GRCh38]
Chr18:54293604 [GRCh37]
Chr18:18q21.31
likely benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248) copy number loss not specified [RCV002052638] Chr18:50707829..54924248 [GRCh37]
Chr18:18q21.2-21.31
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_004786.3(TXNL1):c.104G>A (p.Gly35Glu) single nucleotide variant Inborn genetic diseases [RCV002758361] Chr18:56626452 [GRCh38]
Chr18:54293683 [GRCh37]
Chr18:18q21.31
uncertain significance
NM_004786.3(TXNL1):c.347A>T (p.Asp116Val) single nucleotide variant Inborn genetic diseases [RCV002930927] Chr18:56624310 [GRCh38]
Chr18:54291541 [GRCh37]
Chr18:18q21.31
uncertain significance
Single allele deletion not provided [RCV003448705] Chr18:53218644..54488400 [GRCh37]
Chr18:18q21.2-21.31
pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4512
Count of miRNA genes:1387
Interacting mature miRNAs:1841
Transcripts:ENST00000217515, ENST00000540155, ENST00000585497, ENST00000586079, ENST00000586262, ENST00000587613, ENST00000587807, ENST00000588615, ENST00000589329, ENST00000589415, ENST00000589931, ENST00000590954
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
RH103452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371854,270,734 - 54,270,917UniSTSGRCh37
Build 361852,421,732 - 52,421,915RGDNCBI36
Celera1850,987,872 - 50,988,055RGD
Cytogenetic Map18q21.31UniSTS
HuRef1850,982,092 - 50,982,275UniSTS
GeneMap99-GB4 RH Map18372.67UniSTS
D18S1278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371854,289,663 - 54,289,953UniSTSGRCh37
Build 361852,440,661 - 52,440,951RGDNCBI36
Celera1851,006,802 - 51,007,092RGD
Cytogenetic Map18q21.31UniSTS
HuRef1851,001,028 - 51,001,318UniSTS
TNG Radiation Hybrid Map1821898.0UniSTS
Stanford-G3 RH Map182066.0UniSTS
RH15916  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.31UniSTS
GeneMap99-GB4 RH Map18375.4UniSTS


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 1422 1366 1298 232 809 171 3205 1425 2568 297 1232 1302 74 1 760 2208 2
Low 1017 1621 428 392 1141 294 1152 769 1166 122 228 311 101 444 580 4 2
Below cutoff 4 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF051896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV750604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA248363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000217515   ⟹   ENSP00000217515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,597,209 - 56,638,592 (-)Ensembl
RefSeq Acc Id: ENST00000585497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,599,068 - 56,600,986 (-)Ensembl
RefSeq Acc Id: ENST00000586079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,647,063 - 56,651,045 (-)Ensembl
RefSeq Acc Id: ENST00000586262   ⟹   ENSP00000468165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,608,279 - 56,638,427 (-)Ensembl
RefSeq Acc Id: ENST00000587613   ⟹   ENSP00000466558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,618,041 - 56,651,593 (-)Ensembl
RefSeq Acc Id: ENST00000587807   ⟹   ENSP00000467317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,602,824 - 56,651,274 (-)Ensembl
RefSeq Acc Id: ENST00000588615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,600,103 - 56,600,865 (-)Ensembl
RefSeq Acc Id: ENST00000589329   ⟹   ENSP00000465606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,638,359 - 56,651,600 (-)Ensembl
RefSeq Acc Id: ENST00000589415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,638,704 - 56,651,276 (-)Ensembl
RefSeq Acc Id: ENST00000589931   ⟹   ENSP00000466473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,602,898 - 56,614,491 (-)Ensembl
RefSeq Acc Id: ENST00000590954   ⟹   ENSP00000464918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1856,602,822 - 56,651,128 (-)Ensembl
RefSeq Acc Id: NM_004786   ⟹   NP_004777
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381856,597,209 - 56,638,592 (-)NCBI
GRCh371854,270,053 - 54,305,920 (-)ENTREZGENE
Build 361852,421,051 - 52,456,874 (-)NCBI Archive
HuRef1850,981,411 - 51,017,287 (-)ENTREZGENE
CHM1_11854,265,556 - 54,301,403 (-)NCBI
T2T-CHM13v2.01856,799,245 - 56,840,564 (-)NCBI
Sequence:
RefSeq Acc Id: NR_024546
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381856,597,209 - 56,638,592 (-)NCBI
GRCh371854,270,053 - 54,305,920 (-)ENTREZGENE
HuRef1850,981,411 - 51,017,287 (-)ENTREZGENE
CHM1_11854,265,556 - 54,301,403 (-)NCBI
T2T-CHM13v2.01856,799,245 - 56,840,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451289   ⟹   XP_024307057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381856,597,209 - 56,638,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451290   ⟹   XP_024307058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381856,604,515 - 56,638,592 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004777   ⟸   NM_004786
- UniProtKB: O43396 (UniProtKB/Swiss-Prot),   V9HW51 (UniProtKB/TrEMBL),   B2R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307057   ⟸   XM_024451289
- Peptide Label: isoform X1
- UniProtKB: B2R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307058   ⟸   XM_024451290
- Peptide Label: isoform X2
- UniProtKB: B2R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000217515   ⟸   ENST00000217515
RefSeq Acc Id: ENSP00000468165   ⟸   ENST00000586262
RefSeq Acc Id: ENSP00000466558   ⟸   ENST00000587613
RefSeq Acc Id: ENSP00000467317   ⟸   ENST00000587807
RefSeq Acc Id: ENSP00000465606   ⟸   ENST00000589329
RefSeq Acc Id: ENSP00000466473   ⟸   ENST00000589931
RefSeq Acc Id: ENSP00000464918   ⟸   ENST00000590954
Protein Domains
PITH   Thioredoxin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43396-F1-model_v2 AlphaFold O43396 1-289 view protein structure

Promoters
RGD ID:6795034
Promoter ID:HG_KWN:28068
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NR_024546,   UC002LGG.1,   UC002LGJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361852,456,726 - 52,457,642 (-)MPROMDB
RGD ID:6851482
Promoter ID:EP73542
Type:initiation region
Name:HS_TXNL
Description:Thioredoxin-like, 32kDa.
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 361852,456,821 - 52,456,881EPD
RGD ID:7237401
Promoter ID:EPDNEW_H24446
Type:initiation region
Name:TXNL1_1
Description:thioredoxin like 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
GRCh381856,638,592 - 56,638,652EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12436 AgrOrtholog
COSMIC TXNL1 COSMIC
Ensembl Genes ENSG00000091164 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217515 ENTREZGENE
  ENST00000217515.11 UniProtKB/Swiss-Prot
  ENST00000586262 ENTREZGENE
  ENST00000586262.5 UniProtKB/TrEMBL
  ENST00000587613.1 UniProtKB/TrEMBL
  ENST00000587807.5 UniProtKB/TrEMBL
  ENST00000589329.5 UniProtKB/TrEMBL
  ENST00000589931.1 UniProtKB/TrEMBL
  ENST00000590954.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.470 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091164 GTEx
HGNC ID HGNC:12436 ENTREZGENE
Human Proteome Map TXNL1 Human Proteome Map
InterPro Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PITH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PITH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9352 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9352 ENTREZGENE
OMIM 603049 OMIM
PANTHER THIOREDOXIN-LIKE PROTEIN 1 UniProtKB/Swiss-Prot
  THIOREDOXIN-LIKE PROTEIN 1 UniProtKB/Swiss-Prot
  THIOREDOXIN-LIKE PROTEIN 1 UniProtKB/TrEMBL
  THIOREDOXIN-LIKE PROTEIN 1 UniProtKB/TrEMBL
Pfam PITH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134967488 PharmGKB
PROSITE PITH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOREDOXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R960 ENTREZGENE, UniProtKB/TrEMBL
  K7EKG2_HUMAN UniProtKB/TrEMBL
  K7EME7_HUMAN UniProtKB/TrEMBL
  K7EML9_HUMAN UniProtKB/TrEMBL
  K7EPB7_HUMAN UniProtKB/TrEMBL
  K7ER96_HUMAN UniProtKB/TrEMBL
  O43396 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HW51 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 TXNL1  thioredoxin like 1    thioredoxin-like 1  Symbol and/or name change 5135510 APPROVED