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MGARP Gene

protein-coding   GIFtS: 35
GCID: GC04M140188

Mitochondria-Localized Glutamic Acid-Rich Protein

(Previous name: chromosome 4 open reading frame 49)
(Previous symbol: C4orf49)
  See MGARP-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
Mitochondria-Localized Glutamic Acid-Rich Protein1 2 3     HUMMR2 3
C4orf491 2 3     OSAP2 3
Corneal Endothelium-Specific Protein 11 2 3     Chromosome 4 Open Reading Frame 491
Ovary-Specific Acidic Protein1 2 3     Hypoxia Up-Regulated Mitochondrial Movement Regulator1
Hypoxia Up-Regulated Mitochondrial Movement Regulator Protein2 3     Protein MGARP2
CESP-12 3     CESP13

External Ids:    HGNC: 299691   Entrez Gene: 847092   Ensembl: ENSG000001374637   UniProtKB: Q8TDB43   

Export aliases for MGARP gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MGARP Gene:
MGARP (mitochondria-localized glutamic acid-rich protein) is a protein-coding gene. Diseases associated with MGARP include hypoxia.

UniProtKB/Swiss-Prot: HUMMR_HUMAN, Q8TDB4
Function: Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated
axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the
translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis
through maintenance of mitochondrial abundance and morphology (By similarity)




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for MGARP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMGARP promoter sequence
   Search Chromatin IP Primers for MGARP

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


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

Entrez Gene cytogenetic band: 4q31.1   Ensembl cytogenetic band:  4q31.1   HGNC cytogenetic band: 4q31.1

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M140188:  view genomic region     (about GC identifiers)

Start:
140,187,317 bp from pter      End:
140,201,492 bp from pter
Size:
14,176 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HUMMR_HUMAN, Q8TDB4 (See protein sequence)
Recommended Name: Protein MGARP  
Size: 240 amino acids; 25390 Da
Subunit: Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1 (By similarity). Interacts with RHOT2/Miro-2
Secondary accessions: Q9BZC3

Explore the universe of human proteins at neXtProt for MGARP: NX_Q8TDB4

Explore proteomics data for MGARP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_116012.2  
    ENSEMBL proteins: 
     ENSP00000381928  

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    antibodies-online peptides for MGARP

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    antibodies-online antibodies for MGARP (14 products) 

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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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    1 InterPro protein domain:
     IPR026093 Osap

    Graphical View of Domain Structure for InterPro Entry Q8TDB4

    ProtoNet protein and cluster: Q8TDB4


    Find genes that share domains with MGARP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HUMMR_HUMAN, Q8TDB4
    Function: Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated
    axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the
    translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis
    through maintenance of mitochondrial abundance and morphology (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19528298
         
    Find genes that share ontologies with MGARP           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MGARP

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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
    HUMMR_HUMAN, Q8TDB4: Membrane; Single-pass membrane protein (Potential). Mitochondrion. Mitochondrion outer
    membrane; Single-pass type IV membrane protein; Cytoplasmic side (By similarity). Note=Colocalizes with RHOT1,
    RHOT2, TRAK1 and TRAK2 at the mitochondrion (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16565373
    GO:0031307integral component of mitochondrial outer membrane ISS--

    Find genes that share ontologies with MGARP           About GenesLikeMe


    (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 MGARP
    Interactions:

        Search GeneGlobe Interaction Network for MGARP

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MGARP (Q8TDB43 ENSP000003819284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005333, ENSP000002754934I2D: score=2 STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion ISS--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0008090retrograde axon cargo transport ISS--
    GO:0010822positive regulation of mitochondrion organization ISS--
    GO:0019896axon transport of mitochondrion ISS--

    Find genes that share ontologies with MGARP           About GenesLikeMe



    (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 MGARP (HUMMR)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MGARP gene: 
    NM_032623.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000398955(uc003ihr.1)
    miRNA
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    Selected AceView cDNA sequences (see all 304):

    BQ638374 F21132 BU732860 AI269650 AI671335 BE326655 R18819 BM768825 
    CA313899 AI369796 AA058591 AI823399 F26202 W56292 BM771098 BM785365 
    AI016525 AA977708 BF001584 AA364560 AI478529 AI862578 AK023115 CK819616 

    GeneLoc Exon Structure


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


    MGARP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Ovary (Reproductive System)
             Mature follicles
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Eye (Sensory Organs)
             Lens
     
     Adrenal Gland (Endocrine System)
    MGARP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MGARP Protein Expression

    UniProtKB/Swiss-Prot: HUMMR_HUMAN, Q8TDB4
    Tissue specificity: Expressed in the brain, adrenal gland and corneal endothelium (CE). Expressed in
    steroid-producing cells of the ovary and testis (at protein level). Expressed in steroid-producing cells of the
    ovary and testis. Weakly expressed in placenta. Expressed in corneal endothelial cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MGARP

    (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 MGARP gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mgarp1 , 5 RIKEN cDNA 4930583H14 gene5
    mitochondria localized glutamic acid rich protein1
    66.2(n)1
    57.75(a)1
      3 (22.46 cM)5
    677491  NM_026358.31  NP_080634.21 
     513884155 
    lizard
    (Anolis carolinensis)
    Reptilia MGARP6
    mitochondria-localized glutamic acid-rich protein
    45(a)
    1 ↔ 1
    5(120322949-120389767)


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

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

    (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 MGARP (see all 310)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs48636441,2
    C,F,H--140186892(+) ttttcA/Gttact 1 -- ds500121Minor allele frequency- G:0.02NS EA NA WA CSA 1617
    rs738532301,2
    C,F--140186928(+) TAACAC/GACTAT 1 -- ds50012Minor allele frequency- G:0.05WA 120
    rs763732771,2
    C,F--140186990(+) GGAGCA/CCTTAA 1 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1118370471,2
    C,F--140187173(+) ATATTG/CTTACA 1 -- ds50013Minor allele frequency- C:0.04WA NA EA 358
    rs796898111,2
    C,F--140187315(+) AAGCAC/ACAAAG 1 -- ds50012Minor allele frequency- A:0.02NA 122
    rs789186141,2
    C,F--140187492(+) TAGAAA/TAAAAA 1 -- ut311Minor allele frequency- T:0.02NA 120
    rs1161913531,2
    C,F--140187612(+) ATCAGT/GGGATG 1 -- ut311Minor allele frequency- G:0.03NA 120
    rs1496078401,2
    C--140187634(+) CAAGAA/CCCATT 1 -- ut310--------
    rs744095451,2
    C--140187658(+) AAATAA/CGTCTT 1 -- ut310--------
    rs2021332621,2
    --140187661(+) AAGTC-/TTTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MGARP (140187317 - 140201492 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MGARP: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MGARP
    DNA2.0 Custom Variant and Variant Library Synthesis for MGARP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for MGARP:    
    About MalaCards
    hypoxia


    Find genes that share disorders with MGARP           About GenesLikeMe


    Export disorders for MGARP 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 MGARP gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with MGARP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of ovary-specific acidic protein in steroidogenic tissues: a possible role in steroidogenesis. (PubMed id 19325000)1, 2, 9 Matsumoto T.... Yoshimura Y. (Endocrinology 2009)
    2. The expression of a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is under the regulation of the HPG axis. (PubMed id 21447634)1, 2 Zhou M.... Zhang S. (Endocrinology 2011)
    3. HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport. (PubMed id 19528298)1, 2 Li Y.... Rempe D.A. (J. Cell Biol. 2009)
    4. Distribution of CESP-1 protein in the corneal endothelium and other tissues. (PubMed id 16565373)1, 2 Kinouchi R....Yamagami S. (Invest. Ophthalmol. Vis. Sci. 2006)
    5. Construction of human corneal endothelial cDNA library and identification of novel active genes. (PubMed id 12036975)1, 2 Sakai R.... Yamagami S. (Invest. Ophthalmol. Vis. Sci. 2002)
    6. Mitochondria-localized glutamic acid-rich protein (MGARP) gene transcription is regulated by Sp1. (PubMed id 23209644)1 Jin D....Zhang S. (PLoS ONE 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is highly expressed in retina that exhibits a large area of intrinsic disorder. (PubMed id 20107910)1 Qi S....Zhang S. (Mol. Biol. Rep. 2011)
    9. During hypoxia, HUMMR joins the mitochondrial dance. (PubMed id 20016276)1 Li Y. and Rempe D.A. (Cell Cycle 2010)
    10. Regulation of epidermal growth factor receptor trafficking by lysine deacetylase HDAC6. (PubMed id 20029029)1 Deribe Y.L....Dikic I. (Sci Signal 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84709 HGNC: 29969 AceView: NDUFC1andOSAP Ensembl:ENSG00000137463 euGenes: HUgn84709
    ECgene: MGARP H-InvDB: MGARP

    (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 MGARP 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 MGARP gene:
    Search GeneIP for patents involving MGARP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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