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Gtf2ird1
Gene Detail
 Symbol
Name
ID
Gtf2ird1
general transcription factor II I repeat domain-containing 1
MGI:1861942
Synonyms Alb-c-myc line 166.8, Alb/c-myc line 166.8, BEN, binding factor for early enhancer, c-myc line 166.8, Cream1, ESTM9, GTF3, MusTRD1, Tg(Alb1-Myc)166.8Sst, WBSCR11
Feature Type protein coding gene
Genetic Map
Chromosome 5
74.55 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr5:134357669-134456716 bp, - strand
From Ensembl annotation of GRCm38

  99048 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4158  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: general transcription factor II-I
Gene Tree: Gtf2ird1

Human
homologs
Human Homolog GTF2IRD1, GTF2I repeat domain containing 1
NCBI Gene ID 9569
neXtProt AC  NX_Q9UHL9
Human Synonyms  BEN, CREAM1, GTF3, hMusTRD1alpha1, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12
Human Chr (Location)  7q11.23; chr7:74453790-74602605 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(424) : Gene trapped(419) Targeted(4) Transgenic(1)
Genomic Mutations involving Gtf2ird1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have behavioral defects and exhibit a mild craniofacial defect with variable penetrance.
 
Human Diseases Modeled Using Mouse Gtf2ird1 (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(3)
Interactions
Gtf2ird1 interacts with 195 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process embryo development, multicellular organismal development, ...
Component cytoplasm, nucleus
Function DNA binding, sequence-specific DNA binding transcription factor activity
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (900)    Tissues (610)    Images (123)
Theiler Stages: 1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 515
RNA in situ 125
In situ reporter (knock in) 249
RT-PCR 11
cDNA source data(81)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(98) Genomic(7) cDNA(86) Primer pair(5)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000023079 (Evidence)
Entrez Gene57080 (Evidence)
UniGene332735
DFCITC1577393, TC1586125, TC1587325, TC1594837, TC1595136, TC1641847, TC1659136, TC1715516
DoTSDT.101397808, DT.101397809, DT.101397810, DT.101397811, DT.101397812, DT.101397813, DT.101397817, DT.102534526, DT.103562306, DT.91599617, DT.94240123, DT.97348015, DT.97348018, DT.97348021, DT.99854985
NIA Mouse Gene IndexU026800
Consensus CDS ProjectCCDS39302.1, CCDS39303.1, CCDS39304.1, CCDS39305.1, CCDS39306.1, CCDS39307.1, CCDS51657.1
International Mouse Knockout Project StatusGtf2ird1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023079 Ensembl Gene Model | MGI Sequence Detail 99048 C57BL/6J ±  kb
transcript ENSMUST00000100652 Ensembl | MGI Sequence Detail 4683 Not Applicable 
polypeptide ENSMUSP00000098217 Ensembl | MGI Sequence Detail 1104 Not Applicable 

For the selected sequences
All sequences(145) RefSeq(50) UniProt(7)
Polymorphisms All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(761 from dbSNP Build 137)    SNPs within 2kb including multiple locations(771)
Protein-related
information
ResourceIDDescription
InterPro IPR004212 GTF2I-like repeat
InterPro IPR016659 Transcription factor II-I
Protein Ontology PR:000008323 general transcription factor II-I repeat domain-containing protein 1
References (Earliest) J:4527 Murakami H, et al., Transgenic mouse model for synergistic effects of nuclear oncogenes and growth factors in tumorigenesis: interaction of c-myc and transforming growth factor alpha in hepatic oncogenesis. Cancer Res. 1993 Apr 15;53(8):1719-23
(Latest) J:199755 Palmer SJ, et al., GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members. J Cell Sci. 2012 Nov 1;125(Pt 21):5040-50
All references(83)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-28115, MGI:104821, MGI:2137647, MGI:3583799

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory