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    Gtf2ird1 general transcription factor II I repeat domain-containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 57080, updated on 2-Oct-2018

    Summary

    Official Symbol
    Gtf2ird1provided by MGI
    Official Full Name
    general transcription factor II I repeat domain-containing 1provided by MGI
    Primary source
    MGI:MGI:1861942
    See related
    Ensembl:ENSMUSG00000023079 Vega:OTTMUSG00000055742
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BEN; GTF3; ESTM9; Cream1; Gtf2il; X83320; MusTRD1; WBSCR11; 1700012P16Rik; Tg(Alb1-Myc)166.8Sst
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 16.4), CNS E11.5 (RPKM 13.0) and 28 other tissues See more
    Orthologs

    Genomic context

    See Gtf2ird1 in Genome Data Viewer
    Location:
    5 G2; 5 74.55 cM
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 5 NC_000071.6 (134357661..134456716, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (134833531..134932581, complement)

    Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 46925 Neighboring gene predicted gene 7033 Neighboring gene ribosomal protein S28 pseudogene Neighboring gene CAP-GLY domain containing linker protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    • Basal transcription factors, organism-specific biosystem (from KEGG)
      Basal transcription factors, organism-specific biosystem
      Basal transcription factors
    • Basal transcription factors, conserved biosystem (from KEGG)
      Basal transcription factors, conserved biosystem
      Basal transcription factors
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

    General gene information

    Markers

    Homology

    Clone Names

    • MGC102438

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    embryo development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    transition between slow and fast fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    general transcription factor II-I repeat domain-containing protein 1
    Names
    Alb/c-myc line 166.8
    GTF2I repeat domain-containing 1
    GTF2I repeat domain-containing protein 1
    Williams-Beuren syndrome chromosome region 11
    binding factor for early enhancer
    c-myc line 166.8
    general transcription factor 3
    muscle TFII-I repeat domain-containing protein 1
    transcription factor GTF3 alpha 2
    transcription factor GTF3 gamma 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081462.2NP_001074931.1  general transcription factor II-I repeat domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001074931.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (b) has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF257475, AI413504, CJ178886
      Consensus CDS
      CCDS39307.1
      UniProtKB/Swiss-Prot
      Q9JI57
      Related
      ENSMUSP00000098217.3, OTTMUSP00000072572, ENSMUST00000100652.9, OTTMUST00000137922
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    2. NM_001081463.2NP_001074932.1  general transcription factor II-I repeat domain-containing protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (c) lacks an internal segment and has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF343350, AI413504, AK078488, CJ178886
      Consensus CDS
      CCDS39306.1
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q8BP10
      Related
      ENSMUSP00000098215.3, OTTMUSP00000072573, ENSMUST00000100650.9, OTTMUST00000137923
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    3. NM_001081464.2NP_001074933.1  general transcription factor II-I repeat domain-containing protein 1 isoform d

      See identical proteins and their annotated locations for NP_001074933.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (d) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      BC050822, CJ178886
      Consensus CDS
      CCDS39304.1
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000129392.2, OTTMUSP00000072562, ENSMUST00000171794.8, OTTMUST00000137912
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    4. NM_001081465.1NP_001074934.1  general transcription factor II-I repeat domain-containing protein 1 isoform d

      See identical proteins and their annotated locations for NP_001074934.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame coding exon, as compared to variant 1. The encoded isoform (d) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      AK078488, BC050822, BC083150, CJ048288
      Consensus CDS
      CCDS39304.1
      UniProtKB/TrEMBL
      Q5XJY7, Q6PD35, Q8BP10
      Related
      ENSMUSP00000106875.1, OTTMUSP00000072561, ENSMUST00000111244.4, OTTMUST00000137911
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    5. NM_001081466.2NP_001074935.1  general transcription factor II-I repeat domain-containing protein 1 isoform e

      See identical proteins and their annotated locations for NP_001074935.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two in-frame exons in the coding region, as compared to variant 1. The encoded isoform (e) lacks two segments, as compared to isoform a.
      Source sequence(s)
      AF343349, BC050822, CJ178886
      Consensus CDS
      CCDS39302.1
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000106876.2, OTTMUSP00000072568, ENSMUST00000111245.8, OTTMUST00000137918
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    6. NM_001081467.2NP_001074936.1  general transcription factor II-I repeat domain-containing protein 1 isoform f

      See identical proteins and their annotated locations for NP_001074936.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (f) lacks an internal segment and has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF257475, AI413504, BC050822, CJ178886
      Consensus CDS
      CCDS51657.1
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000073752.5, OTTMUSP00000072570, ENSMUST00000074114.11, OTTMUST00000137920
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    7. NM_001081468.2NP_001074937.1  general transcription factor II-I repeat domain-containing protein 1 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks three exons in the 3' coding region but maintains the reading frame, as compared to variant 1. The encoded isoform (g) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      BC050822, CJ178886
      Consensus CDS
      CCDS39303.1
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000098219.3, OTTMUSP00000072567, ENSMUST00000100654.9, OTTMUST00000137917
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    8. NM_001081469.2NP_001074938.1  general transcription factor II-I repeat domain-containing protein 1 isoform h

      See identical proteins and their annotated locations for NP_001074938.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks three exons in the 3' coding region but maintains the reading frame, as compared to variant 1. The encoded isoform (h) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      AF257475, BC050822, CJ178886
      Consensus CDS
      CCDS80420.1
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000143848.1, OTTMUSP00000072566, ENSMUST00000200944.3, OTTMUST00000137916
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    9. NM_001081470.2NP_001074939.1  general transcription factor II-I repeat domain-containing protein 1 isoform i

      See identical proteins and their annotated locations for NP_001074939.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) lacks four exons in the 3' coding region but maintains the reading frame, as compared to variant 1. The encoded isoform (i) lacks two internal segments, as compared to isoform a.
      Source sequence(s)
      BC050822, CJ178886
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000143897.1, OTTMUSP00000072565, ENSMUST00000202280.3, OTTMUST00000137915
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    10. NM_001244936.1NP_001231865.1  general transcription factor II-I repeat domain-containing protein 1 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (j) lacks two internal segments and has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF257475, AI413504, BC050822, CJ178886
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q6PD35
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    11. NM_001347488.1NP_001334417.1  general transcription factor II-I repeat domain-containing protein 1 isoform k

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) lacks two in-frame exons and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (k) lacks two alternate internal segments and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC167419
      Consensus CDS
      CCDS84967.1
      UniProtKB/Swiss-Prot
      Q9JI57
    12. NM_020331.3NP_065064.2  general transcription factor II-I repeat domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_065064.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the full-length transcript containing all exons of the gene. Variant 1 encodes isoform a.
      Source sequence(s)
      AF343348, BC050822, CJ178886
      Consensus CDS
      CCDS39305.1
      UniProtKB/Swiss-Prot
      Q9JI57
      UniProtKB/TrEMBL
      Q6PD35
      Related
      ENSMUSP00000072904.5, OTTMUSP00000072563, ENSMUST00000073161.11, OTTMUST00000137913
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000071.6 Reference GRCm38.p4 C57BL/6J

      Range
      134357661..134456716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321047.1XP_017176536.1  general transcription factor II-I repeat domain-containing protein 1 isoform X22

    2. XM_017321046.1XP_017176535.1  general transcription factor II-I repeat domain-containing protein 1 isoform X21

    3. XM_017321044.1XP_017176533.1  general transcription factor II-I repeat domain-containing protein 1 isoform X19

    4. XM_006504466.2XP_006504529.1  general transcription factor II-I repeat domain-containing protein 1 isoform X11

      Related
      ENSMUSP00000143809.1, OTTMUSP00000072571, ENSMUST00000202554.3, OTTMUST00000137921
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    5. XM_017321045.1XP_017176534.1  general transcription factor II-I repeat domain-containing protein 1 isoform X20

    6. XM_017321042.1XP_017176531.1  general transcription factor II-I repeat domain-containing protein 1 isoform X17

    7. XM_006504462.2XP_006504525.1  general transcription factor II-I repeat domain-containing protein 1 isoform X8

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    8. XM_017321043.1XP_017176532.1  general transcription factor II-I repeat domain-containing protein 1 isoform X18

    9. XM_017321040.1XP_017176529.1  general transcription factor II-I repeat domain-containing protein 1 isoform X13

    10. XM_011240895.1XP_011239197.1  general transcription factor II-I repeat domain-containing protein 1 isoform X9

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    11. XM_011240891.1XP_011239193.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    12. XM_017321041.1XP_017176530.1  general transcription factor II-I repeat domain-containing protein 1 isoform X15

    13. XM_011240894.1XP_011239196.1  general transcription factor II-I repeat domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    14. XM_011240890.1XP_011239192.1  general transcription factor II-I repeat domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    15. XM_011240897.1XP_011239199.1  general transcription factor II-I repeat domain-containing protein 1 isoform X14

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    16. XM_011240896.1XP_011239198.1  general transcription factor II-I repeat domain-containing protein 1 isoform X12

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    17. XM_011240893.1XP_011239195.1  general transcription factor II-I repeat domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    18. XM_011240892.1XP_011239194.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    19. XM_011240885.1XP_011239187.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239187.1

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    20. XM_011240900.1XP_011239202.1  general transcription factor II-I repeat domain-containing protein 1 isoform X23

      Conserved Domains (1) summary
      pfam02946
      Location:349421
      GTF2I; GTF2I-like repeat
    21. XM_011240886.2XP_011239188.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239188.1

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    22. XM_017321039.1XP_017176528.1  general transcription factor II-I repeat domain-containing protein 1 isoform X10

      UniProtKB/Swiss-Prot
      Q9JI57
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    23. XM_017321038.1XP_017176527.1  general transcription factor II-I repeat domain-containing protein 1 isoform X5

      UniProtKB/Swiss-Prot
      Q9JI57
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    24. XM_011240889.1XP_011239191.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239191.1

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    25. XM_011240901.2XP_011239203.1  general transcription factor II-I repeat domain-containing protein 1 isoform X24

      Conserved Domains (1) summary
      pfam02946
      Location:270342
      GTF2I; GTF2I-like repeat
    26. XM_011240888.2XP_011239190.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239190.1

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    27. XM_011240887.2XP_011239189.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239189.1

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    28. XM_011240898.1XP_011239200.1  general transcription factor II-I repeat domain-containing protein 1 isoform X16

      Conserved Domains (1) summary
      pfam02946
      Location:422494
      GTF2I; GTF2I-like repeat
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