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MIF4GD Gene

protein-coding   GIFtS: 47
GCID: GC17M073262

MIF4G Domain Containing


(Previous symbol: MIFD)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MIF4G Domain Containing1 2     AD0232
SLIP12 3 5     MIF4G Domain-Containing Protein2
MIFD1 2     SLBP (Stem Loop Binding Protein)-Interacting Protein 12
SLBP-Interacting Protein 12 3     hSLIP13

External Ids:    HGNC: 240301   Entrez Gene: 574092   Ensembl: ENSG000001254577   OMIM: 6120725   UniProtKB: A9UHW63   

Export aliases for MIF4GD gene to outside databases

Previous GC identifers: GC17M070774 GC17M068672


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MIF4GD Gene:
This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3'
end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative
splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq, Jun 2011)

GeneCards Summary for MIF4GD Gene:
MIF4GD (MIF4G domain containing) is a protein-coding gene. Diseases associated with MIF4GD include ataxia. GO annotations related to this gene include RNA binding and protein C-terminus binding. An important paralog of this gene is CTIF.

UniProtKB/Swiss-Prot: MI4GD_HUMAN, A9UHW6
Function: Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs
in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs
specifically enhancing their translation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MIF4GD gene promoter:
         ER-alpha   Pax-2   Lmo2   Pax-2a   AP-4   E4BP4   E47   c-Ets-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIF4GD promoter sequence
   Search Chromatin IP Primers for MIF4GD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIF4GD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

MIF4GD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIF4GD gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073262:  view genomic region     (about GC identifiers)

Start:
73,262,309 bp from pter      End:
73,267,373 bp from pter
Size:
5,065 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MI4GD_HUMAN, A9UHW6 (See protein sequence)
Recommended Name: MIF4G domain-containing protein  
Size: 222 amino acids; 25423 Da
Subunit: Interacts with EIF4G1, EIF4G2 and SLBP; probably tethered by SLBP to the 3'-end of mRNAs ending with the
histone stem-loop, it also interacts with EIF4G1 which is bound to their 5'-end
Miscellaneous: Depletion of MIF4GD results in cell death and reduced histone mRNA translation
Sequence caution: Sequence=AAG09724.1; Type=Frameshift; Positions=Several;
Secondary accessions: B4DUM7 Q8N4Q5 Q9HBL5
Alternative splicing: 3 isoforms:  A9UHW6-1   A9UHW6-2   A9UHW6-3   

Explore the universe of human proteins at neXtProt for MIF4GD: NX_A9UHW6

Explore proteomics data for MIF4GD at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys53, Lys68
  • Modification sites at PhosphoSitePlus

  • See MIF4GD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001229427.1  NP_001229429.1  NP_001229430.1  NP_065730.2  

    ENSEMBL proteins: 
     ENSP00000321625   ENSP00000245551   ENSP00000462459   ENSP00000463334   ENSP00000462412  
     ENSP00000463579   ENSP00000463629   ENSP00000464448   ENSP00000463264   ENSP00000462655  
     ENSP00000463493  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR003890 MIF4G-like_typ-3
     IPR016021 MIF4-like_typ_1/2/3
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry A9UHW6

    ProtoNet protein and cluster: A9UHW6

    UniProtKB/Swiss-Prot: MI4GD_HUMAN, A9UHW6
    Similarity: Belongs to the MIF4GD family
    Similarity: Contains 1 MIF4G domain


    MIF4GD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MI4GD_HUMAN, A9UHW6
    Function: Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs
    in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs
    specifically enhancing their translation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0008022protein C-terminus binding IPI17577209
         
    MIF4GD for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIF4GD
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    hsa-mir-7-5p (MIRT025776)

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    2 qRT-PCR Assays for microRNAs that regulate MIF4GD:
    hsa-miR-138 hsa-miR-660
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MI4GD_HUMAN, A9UHW6: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    MIF4GD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MIF4GD
    Interactions:

        Search GeneGlobe Interaction Network for MIF4GD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MIF4GD (A9UHW61, 3 ENSP000002455514) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC6Q5RKV63, ENSP000003985974I2D: score=2 STRING: ENSP00000398597
    SVILO954253, ENSP000003481284I2D: score=1 STRING: ENSP00000348128
    UBQLN4Q9NRR53, ENSP000003572924I2D: score=3 STRING: ENSP00000357292
    DDX19AQ9NUU73, ENSP000003061174I2D: score=5 STRING: ENSP00000306117
    HGSO149643, ENSP000003312014I2D: score=5 STRING: ENSP00000331201
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006417regulation of translation IEA--

    MIF4GD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MIF4GD (MI4GD)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MIF4GD gene (4 alternative transcripts): 
    NM_001242498.1  NM_001242500.1  NM_001242501.1  NM_020679.3  

    Unigene Cluster for MIF4GD:

    MIF4G domain containing
    Hs.325631  [show with all ESTs]
    Unigene Representative Sequence: NM_001242498
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325102(uc021ucx.1 uc002jnr.3) ENST00000245551 ENST00000579297(uc002jnp.3 uc002jnq.3)
    ENST00000577542 ENST00000580571 ENST00000579119 ENST00000578305 ENST00000580717
    ENST00000579612 ENST00000577240 ENST00000579194 ENST00000581777 ENST00000580099

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate MIF4GD:
    hsa-miR-138 hsa-miR-660
    SwitchGear 3'UTR luciferase reporter plasmidMIF4GD 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MIF4GD
      QuantiFast Probe-based Assays in human, mouse, rat MIF4GD

    Additional mRNA sequence: 

    AK300711.1 BC033759.1 

    16 DOTS entries:

    DT.456328  DT.100021262  DT.95271450  DT.40132806  DT.100699845  DT.100775144  DT.100796367  DT.121005217 
    DT.91766617  DT.121005108  DT.121005238  DT.91766616  DT.91831401  DT.95271449  DT.99975963  DT.91766610 

    Selected AceView cDNA sequences (see all 144):

    CR623253 BQ330591 NM_020679 AW300904 CR605533 AA910014 BP351541 BM671199 
    BC033759 CR605810 BI253659 CR624146 BQ063767 BG759718 CA418646 BM719785 
    BM710043 BI030881 BX332441 BU732248 BM694825 BU556748 CR593165 BU621577 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MIF4GD (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
    SP1:                    -     -                                               -                       -                                 
    SP2:                          -                                               -                       -                                 
    SP3:                    -     -                             -     -           -                       -                                 
    SP4:                                                        -                 -                       -                                 
    SP5:                    -     -                             -     -           -     -     -           -                                 


    ECgene alternative splicing isoforms for MIF4GD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MIF4GD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACACCAGT
    MIF4GD Expression
    About this image

    MIF4GD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIF4GD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.325631
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MIF4GD gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mif4gd1 , 5 MIF4G domain containing1, 5 91.29(n)1
    93.24(a)1
      11 (80.90 cM)5
    696741  NM_001243584.11  NP_001230513.11 
     1156079185 
    chicken
    (Gallus gallus)
    Aves MIF4GD1 MIF4G domain containing 78.68(n)
    83.78(a)
      100858848  XM_003642362.2  XP_003642410.1 
    lizard
    (Anolis carolinensis)
    Reptilia MIF4GD6
    MIF4G domain containing
    68(a)
    1 ↔ 1
    2(114644979-114652357)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535132 hypothetical protein MGC53513 79.55(n)    BC048773.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641522 hypothetical protein MGC64152 72.08(n)   393355  BC053283.1 


    ENSEMBL Gene Tree for MIF4GD (if available)
    TreeFam Gene Tree for MIF4GD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIF4GD gene
    CTIF2  

    MIF4GD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MIF4GD (see all 75)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2010297541,2
    C--73262959(+) TCCCGG/CATCAG 8 /I /M mis11Minor allele frequency- C:0.00EU 1263
    rs2020196211,2
    --73262984(+) CCATGC/TGCTGC 8 H R mis10--------
    rs2012347901,2
    --73262989(+) CGCTGC/TCCATT 8 G syn10--------
    rs617393241,2
    C,F--73263012(+) CTGCTC/TCCCAA 8 K E mis18Minor allele frequency- T:0.06NS WA CSA EA NA EU 5916
    rs2004013921,2
    --73263018(+) CCCAAC/TCCGGT 8 I V mis10--------
    rs802126671,2
    C,F--73263150(+) ACTCAT/CTCCCT 4 -- int13Minor allele frequency- C:0.05CSA WA NA 240
    rs1420709081,2
    --73263205(+) GAAAGA/GAATGA 4 -- int10--------
    rs1463291021,2
    C--73263216(+) GTTCCA/GGGACT 4 -- int10--------
    rs112677751,2
    C--73263266(+) GTCTC-/CAAAC 
    CACTTCTT
    CAAAC
    4 -- int10--------
    rs558155001,2
    C--73263268(+) CTTCAAACCACT 
    TCTTCA
    /-
    TCCCA
    4 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for MIF4GD (73262309 - 73267373 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MIF4GD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908760CNV Loss21882294
    nsv908761CNV Loss21882294
    nsv908758CNV Loss21882294
    nsv510727CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIF4GD
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612072    OMIM disorders: --

    1 disease for MIF4GD:    
    About MalaCards
    ataxia


    MIF4GD for disorders           About GeneDecksing


    Export disorders for MIF4GD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MIF4GD gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with MIF4GD)
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    1. SLIP1, a factor required for activation of histone mRNA translation by the stem-loop binding protein. (PubMed id 18025107)1, 2 Cakmakci N.G.... Marzluff W.F. (Mol. Cell. Biol. 2008)
    2. Assembly of the SLIP1-SLBP complex on histone mRNA requires heterodimerization and sequential binding of SLBP followed by SLIP1. (PubMed id 23286197)1 Bansal N....Thapar R. (Biochemistry 2013)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. INT6 interacts with MIF4GD/SLIP1 and is necessary for efficient histone mRNA translation. (PubMed id 22532700)1 Neusiedler J....Jalinot P. (RNA 2012)
    5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Novel interactors and a role for supervillin in early cytokinesis. (PubMed id 20309963)1 Smith T.C....Luna E.J. (Cytoskeleton (Hoboken) 2010)
    8. The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing. (PubMed id 17577209)1 Miele A....Stein J.L. (J. Cell. Biochem. 2007)
    9. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    10. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57409 HGNC: 24030 AceView: AD023 Ensembl:ENSG00000125457 euGenes: HUgn57409
    ECgene: MIF4GD H-InvDB: MIF4GD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MIF4GD Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MIF4GD gene:
    Search GeneIP for patents involving MIF4GD

    GeneCards and IP:
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