TGFB1I1 (transforming growth factor beta 1 induced transcript 1) - Rat Genome Database

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Gene: TGFB1I1 (transforming growth factor beta 1 induced transcript 1) Homo sapiens
Analyze
Symbol: TGFB1I1
Name: transforming growth factor beta 1 induced transcript 1
RGD ID: 732522
HGNC Page HGNC
Description: Exhibits I-SMAD binding activity; signaling receptor binding activity; and transcription coactivator activity. Involved in several processes, including positive regulation of epithelial to mesenchymal transition; regulation of transforming growth factor beta receptor signaling pathway; and ubiquitin-dependent SMAD protein catabolic process. Localizes to focal adhesion. Colocalizes with collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: androgen receptor coactivator 55 kDa protein; androgen receptor coactivator ARA55; androgen receptor-associated protein of 55 kDa; ARA55; HIC-5; HIC5; hydrogen peroxide-inducible clone 5 protein; hydrogen peroxide-inducible clone-5; transforming growth factor beta-1-induced transcript 1 protein; TSC-5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1631,471,585 - 31,477,960 (+)EnsemblGRCh38hg38GRCh38
GRCh381631,472,152 - 31,477,960 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371631,483,473 - 31,489,281 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,390,985 - 31,396,781 (+)NCBINCBI36hg18NCBI36
Build 341631,392,026 - 31,396,781NCBI
Celera1628,819,110 - 28,824,915 (-)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1629,043,677 - 29,049,482 (+)NCBIHuRef
CHM1_11632,802,125 - 32,807,930 (+)NCBICHM1_1
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
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
cyproterone acetate  (EXP)
daidzein  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
hydrogen peroxide  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lipoic acid  (ISO)
menadione  (EXP)
mercury dibromide  (EXP)
N-acetyl-L-cysteine  (EXP)
nickel subsulfide  (ISO)
nitrofen  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
quercetin  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium fluoride  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
tunicamycin  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vanillin  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1716619   PMID:7929412   PMID:9032249   PMID:9422762   PMID:9756887   PMID:9858471   PMID:10075738   PMID:10092676   PMID:10330411   PMID:10604475   PMID:10848625   PMID:11155740  
PMID:11313252   PMID:11463817   PMID:11546764   PMID:11779876   PMID:11792840   PMID:11805099   PMID:11856738   PMID:11937715   PMID:11937718   PMID:12023963   PMID:12153727   PMID:12177201  
PMID:12202987   PMID:12376363   PMID:12400158   PMID:12417722   PMID:12421567   PMID:12426580   PMID:12445807   PMID:12477932   PMID:12631731   PMID:12858356   PMID:14702039   PMID:14755691  
PMID:15231748   PMID:15561701   PMID:15572661   PMID:15687259   PMID:16141357   PMID:16330715   PMID:16344560   PMID:16624805   PMID:16713569   PMID:16849583   PMID:17166536   PMID:17353931  
PMID:17467235   PMID:17508020   PMID:17671518   PMID:17919607   PMID:18029348   PMID:18401422   PMID:18762808   PMID:19389829   PMID:19855388   PMID:19953087   PMID:20395114   PMID:20448481  
PMID:20551380   PMID:20818421   PMID:20946164   PMID:21148292   PMID:21423176   PMID:21873635   PMID:21900206   PMID:21911467   PMID:21924870   PMID:21984848   PMID:21988832   PMID:21996749  
PMID:22286178   PMID:22712231   PMID:23007394   PMID:23062781   PMID:23145173   PMID:24440747   PMID:24831009   PMID:25333259   PMID:25587044   PMID:25742295   PMID:25763609   PMID:25814672  
PMID:26313302   PMID:26416447   PMID:26496610   PMID:26673895   PMID:26769900   PMID:27178620   PMID:27893716   PMID:28378594   PMID:28381557   PMID:28612841   PMID:28986522   PMID:29242607  
PMID:29348458   PMID:29676528   PMID:29738565   PMID:29771639   PMID:30281903   PMID:30680933   PMID:31540324   PMID:31644368   PMID:31683179   PMID:31740661   PMID:32442272  


Genomics

Comparative Map Data
TGFB1I1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1631,471,585 - 31,477,960 (+)EnsemblGRCh38hg38GRCh38
GRCh381631,472,152 - 31,477,960 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371631,483,473 - 31,489,281 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,390,985 - 31,396,781 (+)NCBINCBI36hg18NCBI36
Build 341631,392,026 - 31,396,781NCBI
Celera1628,819,110 - 28,824,915 (-)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1629,043,677 - 29,049,482 (+)NCBIHuRef
CHM1_11632,802,125 - 32,807,930 (+)NCBICHM1_1
Tgfb1i1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,845,963 - 127,854,871 (+)NCBIGRCm39mm39
GRCm39 Ensembl7127,845,984 - 127,854,871 (+)Ensembl
GRCm387128,246,812 - 128,255,699 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7128,246,812 - 128,255,699 (+)EnsemblGRCm38mm10GRCm38
MGSCv377135,390,385 - 135,397,226 (+)NCBIGRCm37mm9NCBIm37
MGSCv367128,038,019 - 128,044,860 (+)NCBImm8
Celera7128,082,355 - 128,089,196 (+)NCBICelera
Cytogenetic Map7F3NCBI
Tgfb1i1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21182,828,553 - 182,835,465 (+)NCBI
Rnor_6.0 Ensembl1199,664,173 - 199,670,961 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01199,664,039 - 199,670,970 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01206,710,120 - 206,716,917 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,504,715 - 187,511,512 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11187,656,500 - 187,660,841 (+)NCBI
Celera1180,474,643 - 180,481,440 (+)NCBICelera
Cytogenetic Map1q37NCBI
Tgfb1i1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554938,309,505 - 8,315,668 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554938,309,480 - 8,315,378 (+)NCBIChiLan1.0ChiLan1.0
TGFB1I1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11631,842,437 - 31,848,327 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,842,437 - 31,848,327 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01623,487,561 - 23,493,452 (-)NCBIMhudiblu_PPA_v0panPan3
TGFB1I1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,775,438 - 16,781,695 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,775,836 - 16,780,935 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,384,792 - 18,390,345 (+)NCBI
ROS_Cfam_1.0616,900,261 - 16,905,818 (-)NCBI
UMICH_Zoey_3.1616,703,863 - 16,709,400 (-)NCBI
UNSW_CanFamBas_1.0616,623,496 - 16,629,008 (-)NCBI
UU_Cfam_GSD_1.0616,935,200 - 16,940,744 (-)NCBI
Tgfb1i1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,683,623 - 125,689,224 (+)NCBI
SpeTri2.0NW_0049365438,347,343 - 8,352,909 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TGFB1I1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,090,071 - 17,099,020 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,093,275 - 17,099,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TGFB1I1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1528,172,246 - 28,178,265 (+)NCBI
Tgfb1i1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478214,471,427 - 14,476,792 (+)NCBI

Position Markers
RH104172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,486,504 - 31,486,624UniSTSGRCh37
Build 361631,394,005 - 31,394,125RGDNCBI36
Celera1628,821,767 - 28,821,887RGD
Cytogenetic Map16p11.2UniSTS
HuRef1629,046,705 - 29,046,825UniSTS
TGFB1I1_8674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,488,684 - 31,489,453UniSTSGRCh37
Build 361631,396,185 - 31,396,954RGDNCBI36
Celera1628,818,938 - 28,819,707RGD
HuRef1629,048,885 - 29,049,654UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6589
Count of miRNA genes:1012
Interacting mature miRNAs:1272
Transcripts:ENST00000361773, ENST00000394858, ENST00000394863, ENST00000561785, ENST00000562165, ENST00000562566, ENST00000563712, ENST00000564176, ENST00000564804, ENST00000565360, ENST00000565454, ENST00000567066, ENST00000567524, ENST00000567607, ENST00000568142, ENST00000569254, ENST00000569703
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 2298 2088 1170 207 452 54 3546 1445 974 234 1296 1417 162 1204 2202 1
Low 121 870 544 411 1211 405 810 744 2737 176 151 151 11 1 586 3 2
Below cutoff 19 28 9 6 221 6 8 15 8 9 38 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001042454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA992124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA097743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ309025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361773   ⟹   ENSP00000355117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,208 - 31,477,960 (+)Ensembl
RefSeq Acc Id: ENST00000394858   ⟹   ENSP00000378327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,473,205 - 31,477,960 (+)Ensembl
RefSeq Acc Id: ENST00000394863   ⟹   ENSP00000378332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,152 - 31,477,958 (+)Ensembl
RefSeq Acc Id: ENST00000561785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,155 - 31,474,095 (+)Ensembl
RefSeq Acc Id: ENST00000562165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,171 - 31,474,100 (+)Ensembl
RefSeq Acc Id: ENST00000562566   ⟹   ENSP00000456482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,473,080 - 31,473,972 (+)Ensembl
RefSeq Acc Id: ENST00000563712   ⟹   ENSP00000459283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,154 - 31,477,600 (+)Ensembl
RefSeq Acc Id: ENST00000564176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,171 - 31,477,958 (+)Ensembl
RefSeq Acc Id: ENST00000564804   ⟹   ENSP00000454688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,473,440 - 31,477,906 (+)Ensembl
RefSeq Acc Id: ENST00000565360   ⟹   ENSP00000455709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,168 - 31,474,759 (+)Ensembl
RefSeq Acc Id: ENST00000565454   ⟹   ENSP00000456783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,471,585 - 31,474,590 (+)Ensembl
RefSeq Acc Id: ENST00000567066   ⟹   ENSP00000456341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,030 - 31,477,600 (+)Ensembl
RefSeq Acc Id: ENST00000567524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,141 - 31,473,939 (+)Ensembl
RefSeq Acc Id: ENST00000567607   ⟹   ENSP00000457586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,473,426 - 31,477,958 (+)Ensembl
RefSeq Acc Id: ENST00000568142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,473,434 - 31,476,802 (+)Ensembl
RefSeq Acc Id: ENST00000569254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,157 - 31,474,239 (+)Ensembl
RefSeq Acc Id: ENST00000569703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,472,175 - 31,476,288 (+)Ensembl
RefSeq Acc Id: NM_001042454   ⟹   NP_001035919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,472,152 - 31,477,958 (+)NCBI
GRCh371631,483,476 - 31,489,281 (+)ENTREZGENE
Build 361631,390,985 - 31,396,780 (+)NCBI Archive
HuRef1629,043,677 - 29,049,482 (+)ENTREZGENE
CHM1_11632,802,125 - 32,807,930 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164719   ⟹   NP_001158191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,472,208 - 31,477,960 (+)NCBI
GRCh371631,483,476 - 31,489,281 (+)ENTREZGENE
HuRef1629,043,677 - 29,049,482 (+)ENTREZGENE
CHM1_11632,802,178 - 32,807,930 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015927   ⟹   NP_057011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,473,205 - 31,477,958 (+)NCBI
GRCh371631,483,476 - 31,489,281 (+)ENTREZGENE
Build 361631,392,027 - 31,396,781 (+)NCBI Archive
HuRef1629,043,677 - 29,049,482 (+)ENTREZGENE
CHM1_11632,803,175 - 32,807,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450412   ⟹   XP_024306180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,472,373 - 31,477,958 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001035919   ⟸   NM_001042454
- Peptide Label: isoform 1
- UniProtKB: O43294 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158191   ⟸   NM_001164719
- Peptide Label: isoform 2
- UniProtKB: O43294 (UniProtKB/Swiss-Prot),   A0A024QZE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057011   ⟸   NM_015927
- Peptide Label: isoform 2
- UniProtKB: O43294 (UniProtKB/Swiss-Prot),   A0A024QZE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306180   ⟸   XM_024450412
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000355117   ⟸   ENST00000361773
RefSeq Acc Id: ENSP00000456482   ⟸   ENST00000562566
RefSeq Acc Id: ENSP00000459283   ⟸   ENST00000563712
RefSeq Acc Id: ENSP00000454688   ⟸   ENST00000564804
RefSeq Acc Id: ENSP00000455709   ⟸   ENST00000565360
RefSeq Acc Id: ENSP00000456783   ⟸   ENST00000565454
RefSeq Acc Id: ENSP00000378327   ⟸   ENST00000394858
RefSeq Acc Id: ENSP00000378332   ⟸   ENST00000394863
RefSeq Acc Id: ENSP00000457586   ⟸   ENST00000567607
RefSeq Acc Id: ENSP00000456341   ⟸   ENST00000567066
Protein Domains
LIM zinc-binding

Promoters
RGD ID:6793507
Promoter ID:HG_KWN:23631
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:NM_001164719,   OTTHUMT00000255630
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,390,576 - 31,391,076 (+)MPROMDB
RGD ID:6793509
Promoter ID:HG_KWN:23632
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_015927,   UC010CAQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,390,904 - 31,391,404 (+)MPROMDB
RGD ID:6851910
Promoter ID:EP73761
Type:initiation region
Name:HS_TGFB1I1
Description:Transforming growth factor beta 1 induced transcript 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 361631,390,977 - 31,391,037EPD
RGD ID:7232101
Promoter ID:EPDNEW_H21796
Type:initiation region
Name:TGFB1I1_1
Description:transforming growth factor beta 1 induced transcript 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21797  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,472,166 - 31,472,226EPDNEW
RGD ID:7232103
Promoter ID:EPDNEW_H21797
Type:initiation region
Name:TGFB1I1_2
Description:transforming growth factor beta 1 induced transcript 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21796  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,473,418 - 31,473,478EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207245] Chr16:31154186..31926800 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2		 benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11767 AgrOrtholog
COSMIC TGFB1I1 COSMIC
Ensembl Genes ENSG00000140682 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355117 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378327 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454688 UniProtKB/TrEMBL
  ENSP00000455709 UniProtKB/TrEMBL
  ENSP00000456341 UniProtKB/TrEMBL
  ENSP00000456482 UniProtKB/TrEMBL
  ENSP00000456783 UniProtKB/TrEMBL
  ENSP00000457586 UniProtKB/Swiss-Prot
  ENSP00000459283 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361773 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394863 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000562566 UniProtKB/TrEMBL
  ENST00000563712 UniProtKB/TrEMBL
  ENST00000564804 UniProtKB/TrEMBL
  ENST00000565360 UniProtKB/TrEMBL
  ENST00000565454 UniProtKB/TrEMBL
  ENST00000567066 UniProtKB/TrEMBL
  ENST00000567607 UniProtKB/Swiss-Prot
GTEx ENSG00000140682 GTEx
HGNC ID HGNC:11767 ENTREZGENE
Human Proteome Map TGFB1I1 Human Proteome Map
InterPro Tgfb1i1/Leupaxin/TGFB1I1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7041 UniProtKB/Swiss-Prot
NCBI Gene 7041 ENTREZGENE
OMIM 602353 OMIM
Pfam LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36481 PharmGKB
PIRSF Leupaxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZE7 ENTREZGENE, UniProtKB/TrEMBL
  H3BN49_HUMAN UniProtKB/TrEMBL
  H3BQC4_HUMAN UniProtKB/TrEMBL
  H3BRP2_HUMAN UniProtKB/TrEMBL
  H3BS04_HUMAN UniProtKB/TrEMBL
  H3BSN4_HUMAN UniProtKB/TrEMBL
  I3L209_HUMAN UniProtKB/TrEMBL
  O43294 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R8D5 UniProtKB/Swiss-Prot
  Q9BPW3 UniProtKB/Swiss-Prot
  Q9Y2V5 UniProtKB/Swiss-Prot