DND1 (DND microRNA-mediated repression inhibitor 1) - Rat Genome Database

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Gene: DND1 (DND microRNA-mediated repression inhibitor 1) Homo sapiens
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Symbol: DND1
Name: DND microRNA-mediated repression inhibitor 1
RGD ID: 1321748
HGNC Page HGNC:23799
Description: Enables mRNA 3'-UTR binding activity. Involved in 3'-UTR-mediated mRNA destabilization and negative regulation of miRNA-mediated gene silencing. Located in cytosol; focal adhesion; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dead end homolog 1; dead end protein homolog 1; MGC34750; RBMS4; RNA-binding motif, single-stranded-interacting protein 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: DND1P1   DND1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,670,794 - 140,673,576 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,670,794 - 140,673,576 (-)EnsemblGRCh38hg38GRCh38
GRCh375140,050,379 - 140,053,161 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,030,565 - 140,033,355 (-)NCBINCBI36Build 36hg18NCBI36
Build 345140,030,565 - 140,033,355NCBI
Celera5136,127,128 - 136,129,918 (-)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,195,622 - 135,198,412 (-)NCBIHuRef
CHM1_15139,483,630 - 139,486,420 (-)NCBICHM1_1
T2T-CHM13v2.05141,196,191 - 141,198,973 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
focal adhesion  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The ter mutation in the rat Dnd1 gene initiates gonadal teratomas and infertility in both genders. Northrup E, etal., PLoS One. 2012;7(5):e38001. doi: 10.1371/journal.pone.0038001. Epub 2012 May 24.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12932328   PMID:15489334   PMID:15902260   PMID:17464447   PMID:18069663   PMID:18155131   PMID:18160032   PMID:18414021   PMID:18509452   PMID:20411342   PMID:20816961  
PMID:21851623   PMID:21873635   PMID:22614019   PMID:23890083   PMID:26186194   PMID:26740055   PMID:28191469   PMID:28297718   PMID:28514442   PMID:28593479   PMID:30021884   PMID:32296183  
PMID:32521898   PMID:33860980   PMID:33961781   PMID:34721738   PMID:35705038   PMID:38311675   PMID:38390782  


Genomics

Comparative Map Data
DND1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,670,794 - 140,673,576 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,670,794 - 140,673,576 (-)EnsemblGRCh38hg38GRCh38
GRCh375140,050,379 - 140,053,161 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,030,565 - 140,033,355 (-)NCBINCBI36Build 36hg18NCBI36
Build 345140,030,565 - 140,033,355NCBI
Celera5136,127,128 - 136,129,918 (-)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,195,622 - 135,198,412 (-)NCBIHuRef
CHM1_15139,483,630 - 139,486,420 (-)NCBICHM1_1
T2T-CHM13v2.05141,196,191 - 141,198,973 (-)NCBIT2T-CHM13v2.0
Dnd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391836,896,724 - 36,899,267 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1836,896,724 - 36,899,267 (-)EnsemblGRCm39 Ensembl
GRCm381836,763,671 - 36,766,214 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1836,763,671 - 36,766,214 (-)EnsemblGRCm38mm10GRCm38
MGSCv371836,923,325 - 36,925,868 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361836,889,645 - 36,892,188 (-)NCBIMGSCv36mm8
Celera1837,215,735 - 37,218,278 (-)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.46NCBI
Dnd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81828,652,712 - 28,655,336 (-)NCBIGRCr8
GRCr8 Ensembl1828,652,712 - 28,655,336 (-)EnsemblGRCr8 Ensembl
mRatBN7.21828,378,692 - 28,381,316 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1828,378,692 - 28,381,316 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1828,505,841 - 28,508,465 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01829,267,915 - 29,270,539 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01828,603,143 - 28,605,767 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01829,608,588 - 29,611,212 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1829,608,588 - 29,611,212 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01829,312,395 - 29,315,019 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41829,464,691 - 29,467,315 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1828,099,244 - 28,101,868 (-)NCBICelera
Cytogenetic Map18p11NCBI
Dnd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541830,893 - 32,936 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541830,795 - 33,394 (+)NCBIChiLan1.0ChiLan1.0
DND1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24135,928,635 - 135,931,488 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,068,186 - 134,071,155 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,035,464 - 136,038,524 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,151,441 - 142,154,262 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5142,151,441 - 142,154,262 (-)Ensemblpanpan1.1panPan2
DND1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1235,825,154 - 35,827,913 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl235,825,636 - 35,827,840 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha232,864,141 - 32,867,086 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,280,764 - 36,283,709 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,281,246 - 36,283,450 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1233,333,099 - 33,336,044 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,200,879 - 34,203,823 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0234,953,593 - 34,956,538 (-)NCBIUU_Cfam_GSD_1.0
Dnd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213152,001,258 - 152,003,846 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365319,607,906 - 9,609,965 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365319,607,678 - 9,610,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DND1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2142,384,532 - 142,387,199 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12142,384,526 - 142,387,407 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22148,328,709 - 148,331,639 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DND1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12343,304,482 - 43,307,479 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2343,304,976 - 43,307,209 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603434,577,251 - 34,580,051 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474333,421,810 - 33,424,635 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474333,421,810 - 33,424,515 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DND1
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3		 pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 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 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 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
NM_194249.3(DND1):c.842G>A (p.Gly281Glu) single nucleotide variant not specified [RCV004320040] Chr5:140671513 [GRCh38]
Chr5:140051098 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.830G>A (p.Cys277Tyr) single nucleotide variant not specified [RCV004296163] Chr5:140671525 [GRCh38]
Chr5:140051110 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.460C>A (p.Leu154Met) single nucleotide variant not specified [RCV004316258] Chr5:140672589 [GRCh38]
Chr5:140052174 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3		 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 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NC_000005.9:g.(?_139930285)_(140078137_?)del deletion not provided [RCV003107704] Chr5:139930285..140078137 [GRCh37]
Chr5:5q31.3		 uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3		 uncertain significance
NC_000005.9:g.(?_140052489)_(140072312_?)del deletion Usher syndrome type 3B [RCV001338626] Chr5:140052489..140072312 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 copy number loss PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] Chr5:139493717..140517454 [GRCh37]
Chr5:5q31.2-31.3		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3		 uncertain significance
NM_194249.3(DND1):c.530C>T (p.Ala177Val) single nucleotide variant not specified [RCV004159966] Chr5:140672519 [GRCh38]
Chr5:140052104 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.827A>G (p.Lys276Arg) single nucleotide variant not specified [RCV004130901] Chr5:140671528 [GRCh38]
Chr5:140051113 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.583G>A (p.Ala195Thr) single nucleotide variant not specified [RCV004126450] Chr5:140672466 [GRCh38]
Chr5:140052051 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.951T>A (p.His317Gln) single nucleotide variant not specified [RCV004123890] Chr5:140671404 [GRCh38]
Chr5:140050989 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.466C>G (p.Leu156Val) single nucleotide variant not specified [RCV004136611] Chr5:140672583 [GRCh38]
Chr5:140052168 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.527C>G (p.Pro176Arg) single nucleotide variant not specified [RCV004283143] Chr5:140672522 [GRCh38]
Chr5:140052107 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.382C>T (p.Pro128Ser) single nucleotide variant not specified [RCV004357653] Chr5:140672667 [GRCh38]
Chr5:140052252 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.910C>G (p.Leu304Val) single nucleotide variant not specified [RCV004381510] Chr5:140671445 [GRCh38]
Chr5:140051030 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.364C>T (p.Pro122Ser) single nucleotide variant not specified [RCV004381504] Chr5:140672685 [GRCh38]
Chr5:140052270 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.104A>T (p.Gln35Leu) single nucleotide variant not specified [RCV004381502] Chr5:140673309 [GRCh38]
Chr5:140052894 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.974C>A (p.Ser325Tyr) single nucleotide variant not specified [RCV004381511] Chr5:140671381 [GRCh38]
Chr5:140050966 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.758A>G (p.Gln253Arg) single nucleotide variant not specified [RCV004381508] Chr5:140671597 [GRCh38]
Chr5:140051182 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.692C>T (p.Pro231Leu) single nucleotide variant not specified [RCV004381507] Chr5:140671663 [GRCh38]
Chr5:140051248 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.668G>A (p.Arg223Gln) single nucleotide variant not specified [RCV004381506] Chr5:140671687 [GRCh38]
Chr5:140051272 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.470C>T (p.Ala157Val) single nucleotide variant not specified [RCV004381505] Chr5:140672579 [GRCh38]
Chr5:140052164 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.151G>A (p.Gly51Ser) single nucleotide variant not specified [RCV004381503] Chr5:140672898 [GRCh38]
Chr5:140052483 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.521C>T (p.Pro174Leu) single nucleotide variant not specified [RCV004624247] Chr5:140672528 [GRCh38]
Chr5:140052113 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.701G>A (p.Arg234Gln) single nucleotide variant not specified [RCV004624246] Chr5:140671654 [GRCh38]
Chr5:140051239 [GRCh37]
Chr5:5q31.3		 likely benign
NM_194249.3(DND1):c.247C>G (p.Arg83Gly) single nucleotide variant not specified [RCV004624245] Chr5:140672802 [GRCh38]
Chr5:140052387 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.906C>A (p.Ser302Arg) single nucleotide variant not specified [RCV004624248] Chr5:140671449 [GRCh38]
Chr5:140051034 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.440C>G (p.Pro147Arg) single nucleotide variant not specified [RCV004918103] Chr5:140672609 [GRCh38]
Chr5:140052194 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.5A>G (p.Gln2Arg) single nucleotide variant not specified [RCV004911698] Chr5:140673538 [GRCh38]
Chr5:140053123 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.775C>G (p.Leu259Val) single nucleotide variant not specified [RCV004911697] Chr5:140671580 [GRCh38]
Chr5:140051165 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.58G>A (p.Ala20Thr) single nucleotide variant not specified [RCV004911700] Chr5:140673355 [GRCh38]
Chr5:140052940 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.94C>G (p.Arg32Gly) single nucleotide variant not specified [RCV004911696] Chr5:140673319 [GRCh38]
Chr5:140052904 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.892C>T (p.Pro298Ser) single nucleotide variant not specified [RCV004911699] Chr5:140671463 [GRCh38]
Chr5:140051048 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.38G>A (p.Arg13Lys) single nucleotide variant not specified [RCV005329487] Chr5:140673375 [GRCh38]
Chr5:140052960 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.859C>T (p.Arg287Cys) single nucleotide variant not specified [RCV005329488] Chr5:140671496 [GRCh38]
Chr5:140051081 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.998G>C (p.Ser333Thr) single nucleotide variant not specified [RCV005329486] Chr5:140671357 [GRCh38]
Chr5:140050942 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_194249.3(DND1):c.856C>T (p.His286Tyr) single nucleotide variant not specified [RCV005329485] Chr5:140671499 [GRCh38]
Chr5:140051084 [GRCh37]
Chr5:5q31.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR24-2hsa-miR-24-3pOncomiRDBexternal_infoNANA20816961
MIR24-1hsa-miR-24-3pOncomiRDBexternal_infoNANA20816961

Predicted Target Of
Summary Value
Count of predictions:375
Count of miRNA genes:326
Interacting mature miRNAs:340
Transcripts:ENST00000542735
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
597391827GWAS1487901_Hintelligence QTL GWAS1487901 (human)0.000002intelligence5140672398140672399Human

Markers in Region
RH70258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,053,616 - 140,053,813UniSTSGRCh37
Build 365140,033,800 - 140,033,997RGDNCBI36
Celera5136,130,363 - 136,130,560RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,198,857 - 135,199,054UniSTS
GeneMap99-GB4 RH Map5529.31UniSTS
NCBI RH Map5889.1UniSTS
Hars  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,053,893 - 140,054,371UniSTSGRCh37
Build 365140,034,077 - 140,034,555RGDNCBI36
Celera5136,130,640 - 136,131,118RGD
HuRef5135,199,134 - 135,199,612UniSTS
D5S2775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,053,536 - 140,053,820UniSTSGRCh37
Build 365140,033,720 - 140,034,004RGDNCBI36
Celera5136,130,283 - 136,130,567RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,198,777 - 135,199,061UniSTS
WI-19187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,053,491 - 140,053,763UniSTSGRCh37
Build 365140,033,675 - 140,033,947RGDNCBI36
Celera5136,130,238 - 136,130,510RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,198,732 - 135,199,004UniSTS
GeneMap99-GB4 RH Map5529.31UniSTS
Whitehead-RH Map5442.3UniSTS
NCBI RH Map5889.1UniSTS
STS-H16567  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.3UniSTS
HuRef5135,196,865 - 135,197,114UniSTS
GeneMap99-GB4 RH Map5536.23UniSTS
NCBI RH Map5891.6UniSTS
WI-21153  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.3UniSTS
HuRef5135,196,803 - 135,197,092UniSTS
GeneMap99-GB4 RH Map5529.31UniSTS
Whitehead-RH Map5442.3UniSTS
NCBI RH Map5889.1UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
49 1 61 44 113 2 31 103 35 27 208 116 41 49 28 45 75

Sequence


Ensembl Acc Id: ENST00000542735   ⟹   ENSP00000445366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,670,794 - 140,673,576 (-)Ensembl
RefSeq Acc Id: NM_194249   ⟹   NP_919225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,670,794 - 140,673,576 (-)NCBI
GRCh375140,050,381 - 140,053,171 (-)ENTREZGENE
Build 365140,030,565 - 140,033,355 (-)NCBI Archive
HuRef5135,195,622 - 135,198,412 (-)ENTREZGENE
CHM1_15139,483,630 - 139,486,420 (-)NCBI
T2T-CHM13v2.05141,196,191 - 141,198,973 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_919225 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33496 (Get FASTA)   NCBI Sequence Viewer  
  AAQ63635 (Get FASTA)   NCBI Sequence Viewer  
  EAW62027 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000445366
  ENSP00000445366.1
GenBank Protein Q8IYX4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_919225   ⟸   NM_194249
- UniProtKB: Q8IYX4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000445366   ⟸   ENST00000542735
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYX4-F1-model_v2 AlphaFold Q8IYX4 1-353 view protein structure

Promoters
RGD ID:6803012
Promoter ID:HG_KWN:51293
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251669
Position:
Human AssemblyChrPosition (strand)Source
Build 365140,032,896 - 140,034,302 (-)MPROMDB
RGD ID:6870842
Promoter ID:EPDNEW_H8586
Type:initiation region
Name:DND1_3
Description:DND microRNA-mediated repression inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8587  EPDNEW_H8588  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,673,550 - 140,673,610EPDNEW
RGD ID:6870844
Promoter ID:EPDNEW_H8587
Type:initiation region
Name:DND1_1
Description:DND microRNA-mediated repression inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8586  EPDNEW_H8588  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,673,962 - 140,674,022EPDNEW
RGD ID:6870846
Promoter ID:EPDNEW_H8588
Type:initiation region
Name:DND1_2
Description:DND microRNA-mediated repression inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8586  EPDNEW_H8587  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,675,123 - 140,675,183EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23799 AgrOrtholog
COSMIC DND1 COSMIC
Ensembl Genes ENSG00000256453 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000542735 ENTREZGENE
  ENST00000542735.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot
GTEx ENSG00000256453 GTEx
HGNC ID HGNC:23799 ENTREZGENE
Human Proteome Map DND1 Human Proteome Map
InterPro DND1_DSRM UniProtKB/Swiss-Prot
  DND1_RRM1 UniProtKB/Swiss-Prot
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot
  RBD_domain_sf UniProtKB/Swiss-Prot
  RRM_dom UniProtKB/Swiss-Prot
KEGG Report hsa:373863 UniProtKB/Swiss-Prot
NCBI Gene 373863 ENTREZGENE
OMIM 609385 OMIM
PANTHER HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN UniProtKB/Swiss-Prot
Pfam DND1_DSRM UniProtKB/Swiss-Prot
  RRM_1 UniProtKB/Swiss-Prot
PharmGKB PA134931157 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot
SMART RRM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot
UniProt DND1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-06 DND1  DND microRNA-mediated repression inhibitor 1    dead end homolog 1 (zebrafish)  Symbol and/or name change 5135510 APPROVED