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GIMAP4 Gene

protein-coding   GIFtS: 53
GCID: GC07P150264

GTPase, IMAP Family Member 4

  See related diseases
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
GTPase, IMAP Family Member 41 2     IAN-12 3
IAN12 3 5     GTPase IMAP Family Member 42
IMAP42 3 5     Human Immune Associated Nucleotide 12
Immunity-Associated Nucleotide 1 Protein2 3     Immunity Associated Protein 42
Immunity-Associated Protein 42 3     hIAN13

External Ids:    HGNC: 218721   Entrez Gene: 553032   Ensembl: ENSG000001335747   OMIM: 6080875   UniProtKB: Q9NUV93   

Export aliases for GIMAP4 gene to outside databases

Previous GC identifers: GC07P149702 GC07P149895 GC07P144080


(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 GIMAP4 Gene:
This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN)
subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell
acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1.
(provided by RefSeq, Jul 2008)

GeneCards Summary for GIMAP4 Gene:
GIMAP4 (GTPase, IMAP family member 4) is a protein-coding gene. Diseases associated with GIMAP4 include acute lymphocytic leukemia, and leukemia. GO annotations related to this gene include GTP binding. An important paralog of this gene is GIMAP5.

UniProtKB/Swiss-Prot: GIMA4_HUMAN, Q9NUV9
Function: May play a role in regulating lymphocyte apoptosis (By similarity). Exhibits intrisinic GTPase activity.
Shows a higher affinity for GDP over GTP (about 12-fold higher), and binding shows an absolute requirement for
magnesium

Gene Wiki entry for GIMAP4 Gene


(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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GIMAP4 gene promoter:
         LHX3b/Lhx3b   Elk-1   RelA   STAT5A   NF-kappaB   Evi-1   LHX3a/Lhx3a   PPAR-gamma2   NF-kappaB1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGIMAP4 promoter sequence
   Search Chromatin IP Primers for GIMAP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GIMAP4


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

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

GIMAP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GIMAP4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P150264:  view genomic region     (about GC identifiers)

Start:
150,264,365 bp from pter      End:
150,271,041 bp from pter
Size:
6,677 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 149,602,273-149,608,853     

(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: GIMA4_HUMAN, Q9NUV9 (See protein sequence)
Recommended Name: GTPase IMAP family member 4  
Size: 329 amino acids; 37534 Da
1 PDB 3D structure from and Proteopedia for GIMAP4:
3LXX (3D)    

Explore the universe of human proteins at neXtProt for GIMAP4: NX_Q9NUV9

Explore proteomics data for GIMAP4 at MOPED

Post-translational modifications: 

  • Phosphorylated at very low levels in resting splenocytes. Rapidly and transiently phosphorylated in response to
    splenocyte activation (By similarity)1
  • Ubiquitination2 at Lys217, Lys282
  • Modification sites at PhosphoSitePlus

  • See GIMAP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060796.1  
    ENSEMBL proteins: 
     ENSP00000255945   ENSP00000419545   ENSP00000418615  

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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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    HGNC Gene Families:
    GIMAP: GTPases, IMAP

    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR006703 AIG1

    Graphical View of Domain Structure for InterPro Entry Q9NUV9

    ProtoNet protein and cluster: Q9NUV9

    UniProtKB/Swiss-Prot: GIMA4_HUMAN, Q9NUV9
    Similarity: Belongs to the IAN GTP-binding protein family


    GIMAP4 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: GIMA4_HUMAN, Q9NUV9
    Function: May play a role in regulating lymphocyte apoptosis (By similarity). Exhibits intrisinic GTPase activity.
    Shows a higher affinity for GDP over GTP (about 12-fold higher), and binding shows an absolute requirement for
    magnesium

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
         
    GIMAP4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GIMAP4:
     Decreased viability  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gimap4):
     hematopoietic system  immune system 

    GIMAP4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gimap4tm1Jcbs for GIMAP4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GIMAP4
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    miRNA
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    hsa-mir-146a-5p (MIRT021274), hsa-mir-1 (MIRT023838)

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    3 qRT-PCR Assays for microRNAs that regulate GIMAP4:
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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
    GIMA4_HUMAN, Q9NUV9: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005829cytosol IDA--

    GIMAP4 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 GIMAP4
    Interactions:

        Search GeneGlobe Interaction Network for GIMAP4

    (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 GIMAP4 (GIMA4)

    3 HMDB Compounds for GIMAP4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    MagnesiumMagnesium (see all 2)7439-95-4--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--



    (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 GIMAP4 gene: 
    NM_018326.2  

    Unigene Clusters for GIMAP4:

    GTPase, IMAP family member 4
    Hs.647101  [show with all ESTs], Hs.648582  [show with all ESTs]
    Unigene Representative Sequences: NM_018326, R68687
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255945(uc003whl.3 uc011kuv.2) ENST00000461940(uc011kuu.2)
    ENST00000494750 ENST00000478135 ENST00000479232
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate GIMAP4:
    hsa-miR-653 hsa-miR-561 hsa-miR-1267
    SwitchGear 3'UTR luciferase reporter plasmidGIMAP4 3' UTR sequence
    Inhib. RNA
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    OriGene qPCR primer pairs and template standards for GIMAP4
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      QuantiTect SYBR Green Assays in human, mouse, rat GIMAP4
      QuantiFast Probe-based Assays in human, mouse, rat GIMAP4

    Additional mRNA sequence: AJ227872.1 

    6 DOTS entries:

    DT.412302  DT.95157658  DT.100751990  DT.95157662  DT.95157666  DT.121036728 

    Selected AceView cDNA sequences (see all 87):

    AU137167 BU681384 BQ773634 BX284016 BX456583 BE467604 BP346047 AL557266 
    AW135649 AI632249 AF117333 BP342433 BM564168 CR620018 BP345339 AI017864 
    CR615293 AI680553 AI025396 AW341058 BP343298 NM_018326 BP377959 AA926639 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GIMAP4    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c
    SP1:                          -     -                     
    SP2:                                -                     
    SP3:                                                      
    SP4:                    -     -     -                     


    ECgene alternative splicing isoforms for GIMAP4

    (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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    GIMAP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTTTTGA
    GIMAP4 Expression
    About this image


    GIMAP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             S-shaped Body
    GIMAP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GIMAP4 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.647101 Hs.648582

    UniProtKB/Swiss-Prot: GIMA4_HUMAN, Q9NUV9
    Tissue specificity: Highly expressed in spleen and peripheral blood leukocytes that contain mostly T- and
    B-lymphocytes. Expressed specifically in resting T- and B-lymphocytes and expression significantly decreases
    during B- or T-lymphocyte activation. Expressed at lower levels in thymus, ovary, colon and small intestine

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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 eukaryotes.

    Orthologs for GIMAP4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gimap41 , 5 GTPase, IMAP family member 41, 5 71.64(n)1
    61.8(a)1
      6 (23.66 cM)5
    1075261  NM_174990.41  NP_778155.21 
     486845495 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    37(a)
    many ↔ many
    2(457604-460078)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    37(a)
    many ↔ many
    AAWZ02036823(9584-10871)
    zebrafish
    (Danio rerio)
    Actinopterygii CU550714.16
    si:ch211-254c8.36
    (see all 27)
    si:ch211-254c8.3
    (see all 27)
    38(a)
    33(a)
    (see all 27)
    many ↔ many
    many ↔ many
    (see all 27)
    1(41133787-41134998) ENSDARG00000052899
    3(3019163-3030282) ENSDARG00000035088
    rice
    (Oryza sativa)
    Liliopsida Os02g05571001 Os02g0557100 46.16(n)
    34.89(a)
      4329671  NM_001053671.1  NP_001047136.1 


    ENSEMBL Gene Tree for GIMAP4 (if available)
    TreeFam Gene Tree for GIMAP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GIMAP4 gene
    GIMAP52  GIMAP62  GIMAP72  GIMAP22  GIMAP12  GIMAP82  
    6 SIMAP similar genes for GIMAP4 using alignment to 3 protein entries:     GIMA4_HUMAN (see all proteins):
    GIMAP7    GIMAP1    GIMAP2    GIMAP6    GIMAP8    GIMAP5

    GIMAP4 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 GIMAP4 (see all 265)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1482117491,2
    --150262484(+) TTTTTA/GACCGT 1 -- us2k10--------
    rs69691361,2
    C,F,A,H--150262521(+) ttaccA/Gtagtt 1 -- us2k111Minor allele frequency- G:0.33NS EA NA WA 780
    rs69694181,2
    C,F,A,H--150262584(+) gcctgC/Tagttc 1 -- us2k111Minor allele frequency- T:0.32NS EA NA WA 780
    rs1412160681,2
    --150262617(+) CATTCC/TGGAGC 1 -- us2k10--------
    rs737273271,2
    C,F--150262627(+) CTTCCC/TCTGAG 1 -- us2k12Minor allele frequency- T:0.02WA 120
    rs69698471,2
    C,F,H--150262643(+) agtagG/Attgaa 1 -- us2k111Minor allele frequency- A:0.32NS EA NA WA 784
    rs711967171,2
    C--150262710(-) CAGTTT/-AAAAA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs731618011,2
    --150262710(+) TTTTTA/TAACTG 1 -- us2k10--------
    rs614334491,2
    C--150262741(+) CAGGCC/TCAACC 1 -- us2k12Minor allele frequency- T:0.04WA 120
    rs734713631,2
    C,F--150262996(+) TTAATG/ATGGTA 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for GIMAP4 (150264365 - 150271041 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GIMAP4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29812CNV Gain19812545
    dgv2155e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GIMAP4
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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: 608087    OMIM disorders: --

    6 diseases for GIMAP4:    
    About MalaCards
    acute lymphocytic leukemia    leukemia    hepatitis b    tonsillitis
    hepatitis    endotheliitis


    GIMAP4 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: GIMAP4 (1 document)

    Export disorders for GIMAP4 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 GIMAP4 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with GIMAP4)
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    1. Quantitative proteomics reveals GIMAP family proteins 1 and 4 to be differentially regulated during human T helper cell differentiation. (PubMed id 18701445)1, 3, 9 FilAcn J.J....Lahesmaa R. (amp 2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Comparative analysis of the human gimap gene cluster encoding a novel GTPase family. (PubMed id 15474311)1, 3 Kruecken J.... Wunderlich F. (Gene 2004)
    5. Human immune associated nucleotide 1: a member of a new guanosine triphosphatase family expressed in resting T and B cells. (PubMed id 11964296)1, 2 Cambot M.... Romeo P.-H. (Blood 2002)
    6. Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. (PubMed id 23041938)1 Lee Y.J....Lee E.B. (Ann. Rheum. Dis. 2013)
    7. Structural insights into the mechanism of GTPase activation in the GIMAP family. (PubMed id 23454188)2 Schwefel D.... Daumke O. (Structure 2013)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)

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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: 55303 HGNC: 21872 AceView: HIMAP4 Ensembl:ENSG00000133574 euGenes: HUgn55303
    ECgene: GIMAP4 H-InvDB: GIMAP4

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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 GIMAP4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GIMAP4 Genetics and Cytogenetics in Oncology and Haematology

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    Patent Information for GIMAP4 gene:
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