MTF1 (metal regulatory transcription factor 1) - Rat Genome Database

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Gene: MTF1 (metal regulatory transcription factor 1) Homo sapiens
Analyze
Symbol: MTF1
Name: metal regulatory transcription factor 1
RGD ID: 1319031
HGNC Page HGNC:7428
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: metal-regulatory transcription factor 1; metal-responsive transcription factor 1; MGC23036; MRE-binding transcription factor; MRE-binding transcription factor-1; MTF-1; transcription factor MTF-1; zinc regulatory factor; ZRF
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
GRCh38137,809,574 - 37,859,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl137,809,574 - 37,859,592 (-)EnsemblGRCh38hg38GRCh38
GRCh37138,275,246 - 38,325,264 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36138,047,826 - 38,097,879 (-)NCBINCBI36Build 36hg18NCBI36
Build 34137,948,943 - 37,994,324NCBI
Celera136,553,063 - 36,603,115 (-)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef136,393,522 - 36,443,287 (-)NCBIHuRef
CHM1_1138,391,063 - 38,441,086 (-)NCBICHM1_1
T2T-CHM13v2.0137,676,462 - 37,726,477 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-(octylamino)-1-[4-(propan-2-ylthio)phenyl]-1-propanol  (EXP)
2-tert-butylhydroquinone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
[2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol  (EXP)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldosterone  (ISO)
alexidine  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (EXP)
aluminium sulfate (anhydrous)  (EXP)
amiodarone  (EXP)
amlodipine  (ISO)
arsenic trichloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
astemizole  (EXP)
bathocuproine disulfonic acid  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP)
busulfan  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
cerium  (EXP)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
CU-O LINKAGE  (EXP)
cycloheximide  (ISO)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
elemental selenium  (EXP)
ferroheme b  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
gallium nitrate  (EXP)
gentamycin  (ISO)
glutathione  (EXP,ISO)
heme b  (ISO)
hydrogen peroxide  (ISO)
inulin  (ISO)
lead diacetate  (EXP)
lipopolysaccharide  (ISO)
mefloquine  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
metam  (ISO)
methylmercury chloride  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP,ISO)
nickel atom  (EXP)
nickel sulfate  (EXP,ISO)
nitroprusside  (EXP)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylarsine oxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver(1+) nitrate  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
spironolactone  (ISO)
succimer  (EXP)
TCEP  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
thiostrepton  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP,ISO)
zinc pyrithione  (ISO)
zinc sulfate  (EXP,ISO)
zinc(0)  (EXP,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8065932   PMID:8125298   PMID:9582278   PMID:10504263   PMID:11004505   PMID:11306562   PMID:11923282   PMID:12477932   PMID:12716893   PMID:12805380   PMID:14610091   PMID:14702039  
PMID:15318808   PMID:15489334   PMID:15735762   PMID:16189514   PMID:16710414   PMID:16751776   PMID:17503480   PMID:18029348   PMID:18458062   PMID:18990686   PMID:19022893   PMID:19058789  
PMID:19060904   PMID:19274049   PMID:19286843   PMID:19797083   PMID:19913599   PMID:19956853   PMID:20026331   PMID:20688958   PMID:21386983   PMID:21798283   PMID:21873635   PMID:22021037  
PMID:22057392   PMID:22493691   PMID:23368743   PMID:24390342   PMID:25162517   PMID:25618524   PMID:26336656   PMID:26529669   PMID:26824222   PMID:28416769   PMID:28473536   PMID:29499938  
PMID:29507755   PMID:29509190   PMID:32694731   PMID:35027733   PMID:36980293   PMID:38758016   PMID:38943058  


Genomics

Comparative Map Data
MTF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38137,809,574 - 37,859,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl137,809,574 - 37,859,592 (-)EnsemblGRCh38hg38GRCh38
GRCh37138,275,246 - 38,325,264 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36138,047,826 - 38,097,879 (-)NCBINCBI36Build 36hg18NCBI36
Build 34137,948,943 - 37,994,324NCBI
Celera136,553,063 - 36,603,115 (-)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef136,393,522 - 36,443,287 (-)NCBIHuRef
CHM1_1138,391,063 - 38,441,086 (-)NCBICHM1_1
T2T-CHM13v2.0137,676,462 - 37,726,477 (-)NCBIT2T-CHM13v2.0
Mtf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Build 34136,271,267 - 36,284,160NCBI
GRCm394124,696,342 - 124,743,593 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4124,695,897 - 124,743,593 (+)EnsemblGRCm39 Ensembl
GRCm384124,802,549 - 124,849,800 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4124,802,104 - 124,849,800 (+)EnsemblGRCm38mm10GRCm38
MGSCv374124,479,793 - 124,527,044 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364124,304,876 - 124,349,954 (+)NCBIMGSCv36mm8
Celera4123,124,096 - 123,171,046 (+)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map457.91NCBI
Mtf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85142,347,024 - 142,391,810 (+)NCBIGRCr8
mRatBN7.25137,062,319 - 137,107,136 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5137,062,376 - 137,107,136 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5139,767,233 - 139,812,075 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05141,537,246 - 141,582,093 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05141,544,424 - 141,589,269 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05142,797,340 - 142,843,896 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5142,797,366 - 142,842,122 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl5142,332,607 - 142,376,370 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05146,567,984 - 146,614,540 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45144,135,674 - 144,180,430 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15144,145,451 - 144,187,287 (+)NCBI
Celera5135,585,105 - 135,629,881 (+)NCBICelera
Cytogenetic Map5q36NCBI
Mtf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545215,580,460 - 15,627,844 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545215,580,460 - 15,627,844 (-)NCBIChiLan1.0ChiLan1.0
MTF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21188,977,327 - 189,027,954 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11188,106,469 - 188,152,667 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0137,088,744 - 37,134,318 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1138,432,716 - 38,482,142 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl138,438,294 - 38,482,142 (-)Ensemblpanpan1.1panPan2
MTF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,679,945 - 4,723,111 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl154,680,372 - 4,717,561 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha154,921,849 - 4,965,016 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0154,808,453 - 4,851,650 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl154,808,870 - 4,846,324 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1154,668,306 - 4,711,440 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0154,734,863 - 4,777,974 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0154,751,184 - 4,794,296 (+)NCBIUU_Cfam_GSD_1.0
Mtf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505854,160,425 - 54,202,806 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647419,981,466 - 20,027,536 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647419,981,483 - 20,027,541 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl693,839,205 - 93,884,409 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1693,837,195 - 93,884,427 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2686,652,512 - 86,655,135 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12095,002,623 - 95,052,366 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2095,003,504 - 95,046,718 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603321,758,719 - 21,810,019 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476420,515,307 - 20,557,105 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476420,510,925 - 20,557,134 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTF1
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005955.2(MTF1):c.2046T>A (p.Pro682=) single nucleotide variant Malignant melanoma [RCV000064756] Chr1:37815352 [GRCh38]
Chr1:38281024 [GRCh37]
Chr1:38053611 [NCBI36]
Chr1:1p34.3
not provided
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3 copy number gain See cases [RCV000511268] Chr1:37766562..38727114 [GRCh37]
Chr1:1p34.3
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005955.3(MTF1):c.1573A>G (p.Thr525Ala) single nucleotide variant not specified [RCV004320020] Chr1:37822315 [GRCh38]
Chr1:38287987 [GRCh37]
Chr1:1p34.3
uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_005955.3(MTF1):c.1224G>A (p.Pro408=) single nucleotide variant not provided [RCV000904956] Chr1:37822664 [GRCh38]
Chr1:38288336 [GRCh37]
Chr1:1p34.3
likely benign
NM_005955.3(MTF1):c.1333C>T (p.Pro445Ser) single nucleotide variant not provided [RCV000892899] Chr1:37822555 [GRCh38]
Chr1:38288227 [GRCh37]
Chr1:1p34.3
likely benign
NM_005955.3(MTF1):c.1318C>T (p.Pro440Ser) single nucleotide variant not provided [RCV000948221] Chr1:37822570 [GRCh38]
Chr1:38288242 [GRCh37]
Chr1:1p34.3
benign
NM_005955.3(MTF1):c.189C>A (p.Asp63Glu) single nucleotide variant not provided [RCV000954839] Chr1:37857470 [GRCh38]
Chr1:38323142 [GRCh37]
Chr1:1p34.3
benign
NM_005955.3(MTF1):c.2163A>G (p.Leu721=) single nucleotide variant not provided [RCV000921348] Chr1:37815235 [GRCh38]
Chr1:38280907 [GRCh37]
Chr1:1p34.3
likely benign
NM_005955.3(MTF1):c.684G>A (p.Thr228=) single nucleotide variant not provided [RCV000937711] Chr1:37838720 [GRCh38]
Chr1:38304392 [GRCh37]
Chr1:1p34.3
likely benign
NM_005955.3(MTF1):c.1051C>T (p.Arg351Ter) single nucleotide variant Autism spectrum disorder [RCV003127334] Chr1:37832262 [GRCh38]
Chr1:38297934 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1525G>A (p.Ala509Thr) single nucleotide variant not specified [RCV004305751] Chr1:37822363 [GRCh38]
Chr1:38288035 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1091C>T (p.Thr364Ile) single nucleotide variant not provided [RCV000887952] Chr1:37823790 [GRCh38]
Chr1:38289462 [GRCh37]
Chr1:1p34.3
likely benign
NM_005955.3(MTF1):c.204A>C (p.Gly68=) single nucleotide variant not provided [RCV000934202] Chr1:37857455 [GRCh38]
Chr1:38323127 [GRCh37]
Chr1:1p34.3
benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p34.3(chr1:36041366-39112237) copy number loss not specified [RCV002053236] Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33
pathogenic
NM_005955.3(MTF1):c.250A>G (p.Ile84Val) single nucleotide variant not specified [RCV004103618] Chr1:37857409 [GRCh38]
Chr1:38323081 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2096G>A (p.Arg699Gln) single nucleotide variant not specified [RCV004239902] Chr1:37815302 [GRCh38]
Chr1:38280974 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.620G>T (p.Cys207Phe) single nucleotide variant not specified [RCV004142281] Chr1:37839947 [GRCh38]
Chr1:38305619 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1327C>T (p.Pro443Ser) single nucleotide variant not specified [RCV004225892] Chr1:37822561 [GRCh38]
Chr1:38288233 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1475C>T (p.Pro492Leu) single nucleotide variant not specified [RCV004228687] Chr1:37822413 [GRCh38]
Chr1:38288085 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1972C>G (p.Pro658Ala) single nucleotide variant not specified [RCV004227080] Chr1:37815426 [GRCh38]
Chr1:38281098 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2053G>A (p.Gly685Arg) single nucleotide variant not specified [RCV004083496] Chr1:37815345 [GRCh38]
Chr1:38281017 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.251T>C (p.Ile84Thr) single nucleotide variant not specified [RCV004246569] Chr1:37857408 [GRCh38]
Chr1:38323080 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.784G>A (p.Asp262Asn) single nucleotide variant not specified [RCV004159317] Chr1:37835740 [GRCh38]
Chr1:38301412 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1568A>C (p.Gln523Pro) single nucleotide variant not specified [RCV004097281] Chr1:37822320 [GRCh38]
Chr1:38287992 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1471G>A (p.Ala491Thr) single nucleotide variant not specified [RCV004155349] Chr1:37822417 [GRCh38]
Chr1:38288089 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1251A>C (p.Leu417Phe) single nucleotide variant not specified [RCV004135213] Chr1:37822637 [GRCh38]
Chr1:38288309 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2063C>T (p.Ser688Phe) single nucleotide variant not specified [RCV004165108] Chr1:37815335 [GRCh38]
Chr1:38281007 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2204T>C (p.Ile735Thr) single nucleotide variant not specified [RCV004253977] Chr1:37815194 [GRCh38]
Chr1:38280866 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2222G>T (p.Gly741Val) single nucleotide variant not specified [RCV004337871] Chr1:37815176 [GRCh38]
Chr1:38280848 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.244C>T (p.His82Tyr) single nucleotide variant not specified [RCV004360335] Chr1:37857415 [GRCh38]
Chr1:38323087 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.170C>A (p.Thr57Asn) single nucleotide variant not specified [RCV004358072] Chr1:37857489 [GRCh38]
Chr1:38323161 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1288C>A (p.Pro430Thr) single nucleotide variant not specified [RCV004344024] Chr1:37822600 [GRCh38]
Chr1:38288272 [GRCh37]
Chr1:1p34.3
uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3
likely pathogenic
NM_005955.3(MTF1):c.1246T>C (p.Ser416Pro) single nucleotide variant not specified [RCV004511895] Chr1:37822642 [GRCh38]
Chr1:38288314 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.962A>G (p.Asn321Ser) single nucleotide variant not specified [RCV004513946] Chr1:37835107 [GRCh38]
Chr1:38300779 [GRCh37]
Chr1:1p34.3
likely benign
NM_005955.3(MTF1):c.1460C>T (p.Pro487Leu) single nucleotide variant not specified [RCV004511908] Chr1:37822428 [GRCh38]
Chr1:38288100 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2024C>A (p.Ala675Glu) single nucleotide variant not specified [RCV004513912] Chr1:37815374 [GRCh38]
Chr1:38281046 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1063A>G (p.Ser355Gly) single nucleotide variant not specified [RCV004511893] Chr1:37832250 [GRCh38]
Chr1:38297922 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1643C>G (p.Pro548Arg) single nucleotide variant not specified [RCV004513905] Chr1:37822245 [GRCh38]
Chr1:38287917 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2033T>C (p.Phe678Ser) single nucleotide variant not specified [RCV004513914] Chr1:37815365 [GRCh38]
Chr1:38281037 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1219G>T (p.Val407Phe) single nucleotide variant not specified [RCV004646718] Chr1:37822669 [GRCh38]
Chr1:38288341 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1285G>A (p.Glu429Lys) single nucleotide variant not specified [RCV004638469] Chr1:37822603 [GRCh38]
Chr1:38288275 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1067C>T (p.Thr356Met) single nucleotide variant not specified [RCV004638470] Chr1:37832246 [GRCh38]
Chr1:38297918 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1529C>T (p.Ala510Val) single nucleotide variant not specified [RCV004646717] Chr1:37822359 [GRCh38]
Chr1:38288031 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.2236G>A (p.Gly746Ser) single nucleotide variant not specified [RCV004646720] Chr1:37815162 [GRCh38]
Chr1:38280834 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1370C>T (p.Ala457Val) single nucleotide variant not specified [RCV004646721] Chr1:37822518 [GRCh38]
Chr1:38288190 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_005955.3(MTF1):c.1315G>C (p.Ala439Pro) single nucleotide variant not specified [RCV004646722] Chr1:37822573 [GRCh38]
Chr1:38288245 [GRCh37]
Chr1:1p34.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR32hsa-miR-32-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2413
Count of miRNA genes:1015
Interacting mature miRNAs:1240
Transcripts:ENST00000373036, ENST00000468190
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
407036674GWAS685650_Hvital capacity QTL GWAS685650 (human)1e-12vital capacity13782371137823712Human
407000160GWAS649136_Hpulse pressure measurement QTL GWAS649136 (human)2e-11pulse pressure measurementpulse pressure (CMO:0000292)13783253537832536Human
406963207GWAS612183_Hhypothyroidism QTL GWAS612183 (human)0.000007hypothyroidism13781431537814316Human
406961864GWAS610840_Hrheumatoid arthritis QTL GWAS610840 (human)3e-12rheumatoid arthritis13781290737812908Human
407014635GWAS663611_Hblood protein measurement QTL GWAS663611 (human)2e-55blood protein measurementblood protein measurement (CMO:0000028)13784068437840685Human
406924586GWAS573562_Hsystemic lupus erythematosus QTL GWAS573562 (human)2e-10systemic lupus erythematosus13781132537811326Human
407002511GWAS651487_Hpulse pressure measurement QTL GWAS651487 (human)7e-10pulse pressure measurementpulse pressure (CMO:0000292)13783253537832536Human
406924660GWAS573636_Hsystemic lupus erythematosus QTL GWAS573636 (human)0.000006systemic lupus erythematosus13781132537811326Human
407074069GWAS723045_Hrheumatoid arthritis QTL GWAS723045 (human)5e-09rheumatoid arthritis13781290737812908Human
407076213GWAS725189_Hrheumatoid arthritis QTL GWAS725189 (human)6e-12rheumatoid arthritis13781290737812908Human
407050932GWAS699908_Hhypothyroidism QTL GWAS699908 (human)0.000009hypothyroidism13781431537814316Human
407110492GWAS759468_Heosinophil count QTL GWAS759468 (human)5e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)13782895437828955Human
407104539GWAS753515_Hplatelet component distribution width QTL GWAS753515 (human)1e-10platelet component distribution widthplatelet distribution width (CMO:0001350)13782912437829125Human
407002458GWAS651434_Hpulse pressure measurement QTL GWAS651434 (human)0.0000001pulse pressure measurementpulse pressure (CMO:0000292)13783253537832536Human
406961915GWAS610891_Hrheumatoid arthritis QTL GWAS610891 (human)6e-09rheumatoid arthritis13781290737812908Human
407044670GWAS693646_Hrheumatoid arthritis QTL GWAS693646 (human)2e-11rheumatoid arthritis13781290737812908Human

Markers in Region
RH102923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,277,405 - 38,277,548UniSTSGRCh37
Build 36138,049,992 - 38,050,135RGDNCBI36
Celera136,555,229 - 36,555,372RGD
Cytogenetic Map1p33UniSTS
HuRef136,395,688 - 36,395,831UniSTS
GeneMap99-GB4 RH Map1115.39UniSTS
MTF1__7302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,280,368 - 38,281,197UniSTSGRCh37
Build 36138,052,955 - 38,053,784RGDNCBI36
Celera136,558,192 - 36,559,021RGD
HuRef136,398,651 - 36,399,480UniSTS
STS-AA022685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,326,415 - 38,326,663UniSTSGRCh37
Build 36138,099,002 - 38,099,250RGDNCBI36
Celera136,604,238 - 36,604,486RGD
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p33UniSTS
HuRef136,444,410 - 36,444,658UniSTS
GeneMap99-GB4 RH Map1115.88UniSTS
NCBI RH Map1251.9UniSTS
WI-9347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,280,647 - 38,280,755UniSTSGRCh37
GRCh3747,459,725 - 7,461,066UniSTSGRCh37
Build 36138,053,234 - 38,053,342RGDNCBI36
Celera47,364,181 - 7,365,522UniSTS
Celera136,558,471 - 36,558,579RGD
Cytogenetic Map1p33UniSTS
Cytogenetic Map4p16.1UniSTS
HuRef47,385,633 - 7,386,974UniSTS
HuRef136,398,930 - 36,399,038UniSTS
G27427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,326,398 - 38,326,498UniSTSGRCh37
Build 36138,098,985 - 38,099,085RGDNCBI36
Celera136,604,221 - 36,604,321RGD
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p33UniSTS
HuRef136,444,393 - 36,444,493UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS


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 2435 2788 2248 4965 1725 2350 5 623 1951 465 2269 7294 6464 53 3728 1 850 1742 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI915521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL702908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL929472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373036   ⟹   ENSP00000362127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,809,574 - 37,859,592 (-)Ensembl
Ensembl Acc Id: ENST00000468190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,857,349 - 37,858,539 (-)Ensembl
RefSeq Acc Id: NM_005955   ⟹   NP_005946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,809,574 - 37,859,592 (-)NCBI
GRCh37138,275,239 - 38,325,292 (-)ENTREZGENE
Build 36138,047,826 - 38,097,879 (-)NCBI Archive
HuRef136,393,522 - 36,443,287 (-)ENTREZGENE
CHM1_1138,391,063 - 38,441,086 (-)NCBI
T2T-CHM13v2.0137,676,462 - 37,726,476 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541491   ⟹   XP_011539793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,809,574 - 37,859,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541493   ⟹   XP_011539795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,817,419 - 37,859,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421170   ⟹   XP_047277126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,809,574 - 37,859,592 (-)NCBI
RefSeq Acc Id: XM_047421173   ⟹   XP_047277129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,809,574 - 37,845,892 (-)NCBI
RefSeq Acc Id: XM_054336697   ⟹   XP_054192672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0137,676,462 - 37,726,477 (-)NCBI
RefSeq Acc Id: XM_054336698   ⟹   XP_054192673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0137,684,307 - 37,726,476 (-)NCBI
RefSeq Acc Id: XM_054336699   ⟹   XP_054192674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0137,676,462 - 37,724,207 (-)NCBI
RefSeq Acc Id: NP_005946   ⟸   NM_005955
- UniProtKB: B2RAK6 (UniProtKB/Swiss-Prot),   Q96CB1 (UniProtKB/Swiss-Prot),   Q14872 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539793   ⟸   XM_011541491
- Peptide Label: isoform X1
- UniProtKB: B2RAK6 (UniProtKB/Swiss-Prot),   Q96CB1 (UniProtKB/Swiss-Prot),   Q14872 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539795   ⟸   XM_011541493
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000362127   ⟸   ENST00000373036
RefSeq Acc Id: XP_047277126   ⟸   XM_047421170
- Peptide Label: isoform X1
- UniProtKB: Q14872 (UniProtKB/Swiss-Prot),   B2RAK6 (UniProtKB/Swiss-Prot),   Q96CB1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277129   ⟸   XM_047421173
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054192672   ⟸   XM_054336697
- Peptide Label: isoform X1
- UniProtKB: Q14872 (UniProtKB/Swiss-Prot),   B2RAK6 (UniProtKB/Swiss-Prot),   Q96CB1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192674   ⟸   XM_054336699
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054192673   ⟸   XM_054336698
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14872-F1-model_v2 AlphaFold Q14872 1-753 view protein structure

Promoters
RGD ID:6855034
Promoter ID:EPDNEW_H682
Type:initiation region
Name:MTF1_1
Description:metal regulatory transcription factor 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
GRCh38137,859,592 - 37,859,652EPDNEW
RGD ID:6809640
Promoter ID:HG_ACW:1604
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MTF1.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36138,049,266 - 38,049,766 (-)MPROMDB
RGD ID:6786077
Promoter ID:HG_KWN:2083
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000012985
Position:
Human AssemblyChrPosition (strand)Source
Build 36138,097,536 - 38,098,036 (-)MPROMDB
RGD ID:6786076
Promoter ID:HG_KWN:2084
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_005955,   UC009VVJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36138,097,644 - 38,098,144 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7428 AgrOrtholog
COSMIC MTF1 COSMIC
Ensembl Genes ENSG00000188786 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373036 ENTREZGENE
  ENST00000373036.5 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000188786 GTEx
HGNC ID HGNC:7428 ENTREZGENE
Human Proteome Map MTF1 Human Proteome Map
InterPro GLI_C2H2-zinc-finger UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:4520 UniProtKB/Swiss-Prot
NCBI Gene 4520 ENTREZGENE
OMIM 600172 OMIM
PANTHER PTHR19818:SF131 UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN ZIC AND GLI UniProtKB/Swiss-Prot
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA31235 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt B2RAK6 ENTREZGENE
  MTF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96CB1 ENTREZGENE
UniProt Secondary B2RAK6 UniProtKB/Swiss-Prot
  Q96CB1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-05 MTF1  metal regulatory transcription factor 1  MTF1  metal-regulatory transcription factor 1  Symbol and/or name change 5135510 APPROVED