TNFAIP1 (TNF alpha induced protein 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TNFAIP1 (TNF alpha induced protein 1) Homo sapiens
Analyze
Symbol: TNFAIP1
Name: TNF alpha induced protein 1
RGD ID: 1346510
HGNC Page HGNC:11894
Description: Enables identical protein binding activity and small GTPase binding activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including negative regulation of Rho protein signal transduction; proteasome-mediated ubiquitin-dependent protein catabolic process; and stress fiber assembly. Located in endosome. Part of Cul3-RING ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B12; B61; BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2; BTB/POZ domain-containing protein TNFAIP1; BTBD34; EDP1; hBACURD2; MGC2317; tumor necrosis factor, alpha induced protein 1; tumor necrosis factor, alpha-induced protein 1 (endothelial)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,335,761 - 28,347,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,335,602 - 28,347,009 (+)EnsemblGRCh38hg38GRCh38
GRCh371726,662,787 - 26,674,035 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,686,913 - 23,698,160 (+)NCBINCBI36Build 36hg18NCBI36
Build 341723,686,912 - 23,698,160NCBI
Celera1723,524,290 - 23,535,780 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1722,870,942 - 22,882,432 (+)NCBIHuRef
CHM1_11726,725,440 - 26,736,930 (+)NCBICHM1_1
T2T-CHM13v2.01729,277,609 - 29,288,860 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Cul3-RING ubiquitin ligase complex  (IBA,IDA)
cytoplasm  (IDA,IEA)
cytosol  (TAS)
endosome  (IDA,IEA)
nucleus  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1370465   PMID:2233719   PMID:2406243   PMID:7536959   PMID:11591653   PMID:11702059   PMID:11704801   PMID:11791643   PMID:11849463   PMID:11929592   PMID:12039524   PMID:12477932  
PMID:12600716   PMID:15489334   PMID:16344560   PMID:16565220   PMID:16870576   PMID:18029348   PMID:19196817   PMID:19593659   PMID:19615732   PMID:19637314   PMID:19782033   PMID:19851886  
PMID:20158880   PMID:20309963   PMID:21145461   PMID:21516116   PMID:21653829   PMID:21873635   PMID:21988832   PMID:22658674   PMID:22810651   PMID:23455924   PMID:23912453   PMID:24705354  
PMID:24969828   PMID:25080503   PMID:25416956   PMID:25814554   PMID:26152285   PMID:26186194   PMID:26261520   PMID:26389662   PMID:26398148   PMID:26496610   PMID:26673895   PMID:27107014  
PMID:27229929   PMID:27565346   PMID:28443643   PMID:28514442   PMID:28581483   PMID:28786561   PMID:29228324   PMID:29676528   PMID:30595535   PMID:31391242   PMID:31586073   PMID:31901862  
PMID:32296183   PMID:32327643   PMID:32814053   PMID:33128699   PMID:33130828   PMID:33159672   PMID:33909263   PMID:33961781   PMID:34048709   PMID:34591642   PMID:34857952   PMID:35271311  
PMID:35563538   PMID:36880596   PMID:37495603   PMID:38102610   PMID:38688591  


Genomics

Comparative Map Data
TNFAIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,335,761 - 28,347,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,335,602 - 28,347,009 (+)EnsemblGRCh38hg38GRCh38
GRCh371726,662,787 - 26,674,035 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,686,913 - 23,698,160 (+)NCBINCBI36Build 36hg18NCBI36
Build 341723,686,912 - 23,698,160NCBI
Celera1723,524,290 - 23,535,780 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1722,870,942 - 22,882,432 (+)NCBIHuRef
CHM1_11726,725,440 - 26,736,930 (+)NCBICHM1_1
T2T-CHM13v2.01729,277,609 - 29,288,860 (+)NCBIT2T-CHM13v2.0
Tnfaip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,413,676 - 78,427,122 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,413,676 - 78,427,158 (-)EnsemblGRCm39 Ensembl
GRCm381178,522,850 - 78,536,270 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,522,850 - 78,536,332 (-)EnsemblGRCm38mm10GRCm38
MGSCv371178,336,352 - 78,349,762 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361178,339,043 - 78,352,389 (-)NCBIMGSCv36mm8
Celera1188,154,923 - 88,168,333 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Tnfaip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,915,824 - 63,930,514 (-)NCBIGRCr8
mRatBN7.21063,417,774 - 63,432,466 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,417,775 - 63,432,466 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1068,050,427 - 68,065,093 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01067,555,758 - 67,570,424 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01063,025,275 - 63,039,976 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01065,791,002 - 65,805,693 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,791,003 - 65,805,693 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01065,837,922 - 65,853,370 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,632,189 - 64,646,879 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11064,647,455 - 64,660,389 (-)NCBI
Celera1062,394,329 - 62,409,019 (-)NCBICelera
Cytogenetic Map10q25NCBI
Tnfaip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,786,015 - 4,799,274 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,786,015 - 4,799,376 (-)NCBIChiLan1.0ChiLan1.0
TNFAIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21936,111,643 - 36,122,935 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,992,035 - 38,003,328 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01728,427,448 - 28,438,826 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,929,788 - 28,941,278 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,929,788 - 28,941,278 (-)Ensemblpanpan1.1panPan2
TNFAIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,588,009 - 42,597,961 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,588,112 - 42,595,596 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha941,744,941 - 41,754,881 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,407,163 - 43,417,110 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,407,185 - 43,417,107 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,191,412 - 42,201,351 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,482,639 - 42,492,584 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,559,687 - 42,569,626 (+)NCBIUU_Cfam_GSD_1.0
Tnfaip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560241,613,977 - 41,625,942 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,491,925 - 4,503,645 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365384,491,915 - 4,503,887 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFAIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,616,916 - 44,629,934 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,616,840 - 44,626,330 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21246,529,322 - 46,538,741 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TNFAIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,102,499 - 22,111,739 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1622,102,531 - 22,115,451 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660758,014,614 - 8,026,413 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnfaip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624786939,605 - 952,675 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624786939,619 - 952,698 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNFAIP1
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2
benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_021137.5(TNFAIP1):c.854C>T (p.Thr285Ile) single nucleotide variant not specified [RCV004294948] Chr17:28344503 [GRCh38]
Chr17:26671529 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.781G>A (p.Val261Ile) single nucleotide variant not specified [RCV004296523] Chr17:28344430 [GRCh38]
Chr17:26671456 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2
drug response
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2
likely pathogenic
GRCh37/hg19 17q11.2(chr17:26619789-26723666)x1 copy number loss not provided [RCV000751972] Chr17:26619789..26723666 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2
pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2
pathogenic
NM_021137.5(TNFAIP1):c.71G>T (p.Gly24Val) single nucleotide variant not specified [RCV004164270] Chr17:28339592 [GRCh38]
Chr17:26666618 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.76G>C (p.Gly26Arg) single nucleotide variant not specified [RCV004161226] Chr17:28339597 [GRCh38]
Chr17:26666623 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.880C>T (p.Arg294Cys) single nucleotide variant not specified [RCV004158511] Chr17:28344529 [GRCh38]
Chr17:26671555 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.118T>C (p.Tyr40His) single nucleotide variant not specified [RCV004098802] Chr17:28339639 [GRCh38]
Chr17:26666665 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.946G>A (p.Asp316Asn) single nucleotide variant not specified [RCV004178619] Chr17:28344595 [GRCh38]
Chr17:26671621 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.143G>A (p.Arg48His) single nucleotide variant not specified [RCV004249911] Chr17:28339664 [GRCh38]
Chr17:26666690 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2
uncertain significance
NM_021137.5(TNFAIP1):c.618C>T (p.Asp206=) single nucleotide variant not provided [RCV003885617] Chr17:28342346 [GRCh38]
Chr17:26669372 [GRCh37]
Chr17:17q11.2
benign
NM_021137.5(TNFAIP1):c.278C>A (p.Thr93Asn) single nucleotide variant not specified [RCV004473055] Chr17:28340381 [GRCh38]
Chr17:26667407 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.854C>A (p.Thr285Asn) single nucleotide variant not specified [RCV004473057] Chr17:28344503 [GRCh38]
Chr17:26671529 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.871C>T (p.Arg291Cys) single nucleotide variant not specified [RCV004473058] Chr17:28344520 [GRCh38]
Chr17:26671546 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.535C>G (p.Leu179Val) single nucleotide variant not specified [RCV004473056] Chr17:28342263 [GRCh38]
Chr17:26669289 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.872G>A (p.Arg291His) single nucleotide variant not specified [RCV004473059] Chr17:28344521 [GRCh38]
Chr17:26671547 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.633G>T (p.Trp211Cys) single nucleotide variant not specified [RCV004687001] Chr17:28342361 [GRCh38]
Chr17:26669387 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.607G>A (p.Val203Ile) single nucleotide variant not specified [RCV004687000] Chr17:28342335 [GRCh38]
Chr17:26669361 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_021137.5(TNFAIP1):c.421A>T (p.Thr141Ser) single nucleotide variant not specified [RCV004680041] Chr17:28341282 [GRCh38]
Chr17:26668308 [GRCh37]
Chr17:17q11.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR372hsa-miR-372-3pOncomiRDBexternal_infoNANA23242208

Predicted Target Of
Summary Value
Count of predictions:2796
Count of miRNA genes:1016
Interacting mature miRNAs:1257
Transcripts:ENST00000226225, ENST00000544907, ENST00000577535, ENST00000578158, ENST00000582302, ENST00000583213
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407174309GWAS823285_Hblood protein measurement QTL GWAS823285 (human)4e-12blood protein measurementblood protein measurement (CMO:0000028)172833862228338623Human
407185344GWAS834320_Hprotein lin-7 homolog B measurement QTL GWAS834320 (human)4e-13protein lin-7 homolog B measurement172834417028344171Human
407282191GWAS931167_Hprotein measurement QTL GWAS931167 (human)6e-13protein measurement172834360128343602Human
406993099GWAS642075_Hlevel of protein phosphatase 1G in blood serum QTL GWAS642075 (human)1e-17level of protein phosphatase 1G in blood serum172834417028344171Human
407204782GWAS853758_Hblood protein measurement QTL GWAS853758 (human)4e-29blood protein measurementblood protein measurement (CMO:0000028)172834417028344171Human
407235541GWAS884517_Hblood protein measurement QTL GWAS884517 (human)2e-16blood protein measurementblood protein measurement (CMO:0000028)172834417028344171Human
406988273GWAS637249_Hlevel of mRNA-capping enzyme in blood serum QTL GWAS637249 (human)4e-12level of mRNA-capping enzyme in blood serum172834417028344171Human
407190833GWAS839809_Hlow density lipoprotein cholesterol measurement QTL GWAS839809 (human)6e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)172833718928337190Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407086485GWAS735461_Hlow density lipoprotein cholesterol measurement QTL GWAS735461 (human)2e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)172833718928337190Human
407231795GWAS880771_Hblood protein measurement QTL GWAS880771 (human)3e-14blood protein measurementblood protein measurement (CMO:0000028)172833778028337781Human
407175795GWAS824771_Hblood protein measurement QTL GWAS824771 (human)1e-15blood protein measurementblood protein measurement (CMO:0000028)172834360128343602Human
406988340GWAS637316_Hlevel of MAP6 domain-containing protein 1 in blood serum QTL GWAS637316 (human)2e-12level of MAP6 domain-containing protein 1 in blood serum172834360128343602Human
407286865GWAS935841_Hgrowth/differentiation factor 5 measurement QTL GWAS935841 (human)7e-34growth/differentiation factor 5 measurement172834360128343602Human
407168764GWAS817740_Hblood protein measurement QTL GWAS817740 (human)8e-13blood protein measurementblood protein measurement (CMO:0000028)172834360128343602Human
406890650GWAS539626_Hcadherin-12 measurement QTL GWAS539626 (human)5e-16cadherin-12 measurement172834360128343602Human
406995512GWAS644488_Hlevel of major intrinsically disordered Notch2-binding receptor 1 in blood serum QTL GWAS644488 (human)2e-23level of major intrinsically disordered Notch2-binding receptor 1 in blood serum172834360128343602Human
407285661GWAS934637_Hvitronectin measurement QTL GWAS934637 (human)2e-11vitronectin measurement172834007528340076Human
407047965GWAS696941_Hbody mass index QTL GWAS696941 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)172834020028340201Human
407255545GWAS904521_Hserum albumin measurement QTL GWAS904521 (human)1e-08serum albumin measurementserum albumin level (CMO:0000550)172834360128343602Human

Markers in Region
RH64867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,672,142 - 26,672,284UniSTSGRCh37
Build 361723,696,269 - 23,696,411RGDNCBI36
Celera1723,533,886 - 23,534,028RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1722,880,538 - 22,880,680UniSTS
RH64911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,674,287 - 26,674,471UniSTSGRCh37
Build 361723,698,414 - 23,698,598RGDNCBI36
Celera1723,536,032 - 23,536,216RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17q22-q23UniSTS
HuRef1722,882,684 - 22,882,868UniSTS
SHGC-31509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,671,631 - 26,671,846UniSTSGRCh37
Build 361723,695,758 - 23,695,973RGDNCBI36
Celera1723,533,374 - 23,533,589RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1722,880,026 - 22,880,241UniSTS
Stanford-G3 RH Map171029.0UniSTS
GeneMap99-G3 RH Map171530.0UniSTS
TNFAIP1__5106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,671,423 - 26,672,329UniSTSGRCh37
Build 361723,695,550 - 23,696,456RGDNCBI36
Celera1723,533,166 - 23,534,073RGD
HuRef1722,879,818 - 22,880,725UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY065346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB093553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ292543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000226225   ⟹   ENSP00000226225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,335,761 - 28,347,009 (+)Ensembl
Ensembl Acc Id: ENST00000544907   ⟹   ENSP00000440749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,335,602 - 28,345,255 (+)Ensembl
Ensembl Acc Id: ENST00000577535   ⟹   ENSP00000466301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,340,406 - 28,342,512 (+)Ensembl
Ensembl Acc Id: ENST00000578158   ⟹   ENSP00000464637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,335,653 - 28,340,425 (+)Ensembl
Ensembl Acc Id: ENST00000582302   ⟹   ENSP00000464515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,336,467 - 28,340,478 (+)Ensembl
Ensembl Acc Id: ENST00000583213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,335,761 - 28,344,510 (+)Ensembl
RefSeq Acc Id: NM_021137   ⟹   NP_066960
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,335,761 - 28,347,009 (+)NCBI
GRCh371726,662,548 - 26,674,035 (+)ENTREZGENE
Build 361723,686,913 - 23,698,160 (+)NCBI Archive
HuRef1722,870,942 - 22,882,432 (+)ENTREZGENE
CHM1_11726,725,440 - 26,736,930 (+)NCBI
T2T-CHM13v2.01729,277,609 - 29,288,860 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024993   ⟹   XP_016880482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,335,761 - 28,347,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054317033   ⟹   XP_054173008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,277,609 - 29,288,860 (+)NCBI
RefSeq Acc Id: NP_066960   ⟸   NM_021137
- UniProtKB: B7Z6M4 (UniProtKB/Swiss-Prot),   Q5TZQ1 (UniProtKB/Swiss-Prot),   Q13829 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880482   ⟸   XM_017024993
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000464515   ⟸   ENST00000582302
Ensembl Acc Id: ENSP00000440749   ⟸   ENST00000544907
Ensembl Acc Id: ENSP00000466301   ⟸   ENST00000577535
Ensembl Acc Id: ENSP00000464637   ⟸   ENST00000578158
Ensembl Acc Id: ENSP00000226225   ⟸   ENST00000226225
RefSeq Acc Id: XP_054173008   ⟸   XM_054317033
- Peptide Label: isoform X1
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13829-F1-model_v2 AlphaFold Q13829 1-316 view protein structure

Promoters
RGD ID:6794638
Promoter ID:HG_KWN:25537
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_174887,   OTTHUMT00000255681,   UC002HAV.1,   UC002HAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361723,686,641 - 23,687,141 (+)MPROMDB
RGD ID:6853318
Promoter ID:EP74484
Type:initiation region
Name:HS_TNFAIP1
Description:Tumor necrosis factor, alpha-induced protein 1 (endothelial).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361723,686,942 - 23,687,002EPD
RGD ID:7234343
Promoter ID:EPDNEW_H22917
Type:initiation region
Name:TNFAIP1_2
Description:TNF alpha induced protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22918  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,335,573 - 28,335,633EPDNEW
RGD ID:7234345
Promoter ID:EPDNEW_H22918
Type:initiation region
Name:TNFAIP1_1
Description:TNF alpha induced protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22917  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,335,761 - 28,335,821EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11894 AgrOrtholog
COSMIC TNFAIP1 COSMIC
Ensembl Genes ENSG00000109079 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000226225 ENTREZGENE
  ENST00000226225.7 UniProtKB/Swiss-Prot
  ENST00000544907.6 UniProtKB/Swiss-Prot
  ENST00000577535.1 UniProtKB/TrEMBL
  ENST00000578158.5 UniProtKB/TrEMBL
  ENST00000582302.2 UniProtKB/TrEMBL
GTEx ENSG00000109079 GTEx
HGNC ID HGNC:11894 ENTREZGENE
Human Proteome Map TNFAIP1 Human Proteome Map
InterPro BACURD1-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7126 UniProtKB/Swiss-Prot
NCBI Gene 7126 ENTREZGENE
OMIM 191161 OMIM
PANTHER BTB/POZ DOMAIN-CONTAINING ADAPTER FOR CUL3-MEDIATED RHOA DEGRADATION PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11145 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36591 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z6M4 ENTREZGENE
  BACD2_HUMAN UniProtKB/Swiss-Prot
  J3QS43_HUMAN UniProtKB/TrEMBL
  J3QSD4_HUMAN UniProtKB/TrEMBL
  K7EM01_HUMAN UniProtKB/TrEMBL
  Q13829 ENTREZGENE
  Q5TZQ1 ENTREZGENE
UniProt Secondary B7Z6M4 UniProtKB/Swiss-Prot
  Q5TZQ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 TNFAIP1  TNF alpha induced protein 1  TNFAIP1  tumor necrosis factor, alpha induced protein 1  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFAIP1  tumor necrosis factor, alpha induced protein 1  TNFAIP1  tumor necrosis factor, alpha-induced protein 1 (endothelial)  Symbol and/or name change 5135510 APPROVED