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Aliases for MGARP Gene

Aliases for MGARP Gene

  • Mitochondria Localized Glutamic Acid Rich Protein 2 3 5
  • Corneal Endothelium-Specific Protein 1 2 3 4
  • Ovary-Specific Acidic Protein 2 3 4
  • Hypoxia Up-Regulated Mitochondrial Movement Regulator Protein 3 4
  • C4orf49 3 4
  • CESP-1 3 4
  • HUMMR 3 4
  • OSAP 3 4
  • Hypoxia Up-Regulated Mitochondrial Movement Regulator 2
  • Mitochondria-Localized Glutamic Acid-Rich Protein 4
  • Chromosome 4 Open Reading Frame 49 2
  • Protein MGARP 3
  • CESP1 4

External Ids for MGARP Gene

Previous HGNC Symbols for MGARP Gene

  • C4orf49

Previous GeneCards Identifiers for MGARP Gene

  • GC04M140188

Summaries for MGARP Gene

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 for MGARP Gene

  • 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).

Additional gene information for MGARP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MGARP Gene

Genomics for MGARP Gene

GeneHancer (GH) Regulatory Elements for MGARP Gene

Promoters and enhancers for MGARP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I139278 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.8 769 2 CTCF KLF1 ARNT SUZ12 ZSCAN4 SIN3A ZNF384 HIC1 ZNF335 GLIS2 MGARP RAB33B MAML3 ELF2 NDUFC1 RNU6-1074P GC04M139257
GH04I139081 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 11.2 +196.6 196591 4.4 ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ELF2 NAA15 NOCT ENSG00000273247 LOC105377448 MGARP RAB33B H3F3AP6 GC04P139099 RNU6-531P
GH04I139241 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.5 +37.4 37409 3.5 PKNOX1 FEZF1 BRCA1 YY1 FOS TSHZ1 ZNF518A NFIL3 ZSCAN16 HMBOX1 MGARP ELF2 NDUFC1 RAB33B GC04M139257 RNU6-506P RNU6-1074P
GH04I139299 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 -21.2 -21226 4.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 NDUFC1 NAA15 RAB33B MAML3 RNU6-1074P MGARP GC04P139295
GH04I139312 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -34.5 -34488 4.8 HDAC1 PKNOX1 LEF1 BACH1 ZMYM3 PAX8 CHAMP1 CC2D1A GATA3 ZNF316 NDUFC1 MGARP RAB33B H3F3AP6 ELF2 GC04P139319 NAA15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MGARP on UCSC Golden Path with GeneCards custom track

Genomic Locations for MGARP Gene

Genomic Locations for MGARP Gene
chr4:139,266,163-139,280,338
(GRCh38/hg38)
Size:
14,176 bases
Orientation:
Minus strand
chr4:140,187,317-140,201,492
(GRCh37/hg19)

Genomic View for MGARP Gene

Genes around MGARP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGARP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGARP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGARP Gene

Proteins for MGARP Gene

  • Protein details for MGARP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDB4-HUMMR_HUMAN
    Recommended name:
    Protein MGARP
    Protein Accession:
    Q8TDB4
    Secondary Accessions:
    • Q9BZC3

    Protein attributes for MGARP Gene

    Size:
    240 amino acids
    Molecular mass:
    25390 Da
    Quaternary structure:
    • Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1 (By similarity). Interacts with RHOT2/Miro-2.

neXtProt entry for MGARP Gene

Post-translational modifications for MGARP Gene

No Post-translational modifications

Other Protein References for MGARP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MGARP Gene

Domains & Families for MGARP Gene

Gene Families for MGARP Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MGARP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MGARP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MGARP: view

No data available for UniProtKB/Swiss-Prot for MGARP Gene

Function for MGARP Gene

Molecular function for MGARP Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for MGARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19528298
genes like me logo Genes that share ontologies with MGARP: view

Phenotypes for MGARP Gene

genes like me logo Genes that share phenotypes with MGARP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MGARP Gene

Localization for MGARP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGARP Gene

Mitochondrion. Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Note=Colocalizes with RHOT1, RHOT2, TRAK1 and TRAK2 at the mitochondrion. {ECO:0000250 UniProtKB:Q8VI64}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MGARP gene
Compartment Confidence
mitochondrion 5
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MGARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 16565373
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031307 integral component of mitochondrial outer membrane ISS,IBA --
genes like me logo Genes that share ontologies with MGARP: view

Pathways & Interactions for MGARP Gene

SuperPathways for MGARP Gene

No Data Available

Interacting Proteins for MGARP Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000381928%0d%0a9606.ENSP00000423602%0d%0a
Selected Interacting proteins: ENSP00000381928 Q8TDB4-HUMMR_HUMAN for MGARP Gene via STRING IID

Gene Ontology (GO) - Biological Process for MGARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion ISS --
GO:0008089 anterograde axonal transport ISS,IEA --
GO:0008090 retrograde axonal transport ISS --
GO:0010821 regulation of mitochondrion organization IBA --
GO:0010822 positive regulation of mitochondrion organization ISS --
genes like me logo Genes that share ontologies with MGARP: view

No data available for Pathways by source and SIGNOR curated interactions for MGARP Gene

Drugs & Compounds for MGARP Gene

No Compound Related Data Available

Transcripts for MGARP Gene

mRNA/cDNA for MGARP Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(304) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MGARP Gene

Mitochondria-localized glutamic acid-rich protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MGARP Gene

No ASD Table

Relevant External Links for MGARP Gene

GeneLoc Exon Structure for
MGARP
ECgene alternative splicing isoforms for
MGARP

Expression for MGARP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MGARP Gene

mRNA differential expression in normal tissues according to GTEx for MGARP Gene

This gene is overexpressed in Adrenal Gland (x34.6).

Protein differential expression in normal tissues from HIPED for MGARP Gene

This gene is overexpressed in Retina (20.5), Adrenal (13.7), Fetal testis (12.9), and Liver (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MGARP Gene



Protein tissue co-expression partners for MGARP Gene

NURSA nuclear receptor signaling pathways regulating expression of MGARP Gene:

MGARP

SOURCE GeneReport for Unigene cluster for MGARP Gene:

Hs.710036

mRNA Expression by UniProt/SwissProt for MGARP Gene:

Q8TDB4-HUMMR_HUMAN
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.

Evidence on tissue expression from TISSUES for MGARP Gene

  • Eye(4.6)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with MGARP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MGARP Gene

Orthologs for MGARP Gene

This gene was present in the common ancestor of chordates.

Orthologs for MGARP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MGARP 33 34
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia MGARP 33 34
  • 79.08 (n)
dog
(Canis familiaris)
Mammalia MGARP 33 34
  • 76.95 (n)
rat
(Rattus norvegicus)
Mammalia Mgarp 33
  • 67.22 (n)
mouse
(Mus musculus)
Mammalia Mgarp 33 16 34
  • 66.2 (n)
oppossum
(Monodelphis domestica)
Mammalia MGARP 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGARP 34
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MGARP 34
  • 45 (a)
OneToOne
Species where no ortholog for MGARP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MGARP Gene

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

Paralogs for MGARP Gene

No data available for Paralogs for MGARP Gene

Variants for MGARP Gene

Sequence variations from dbSNP and Humsavar for MGARP Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000293754 -- 139,278,962(-) G/C intron_variant
rs1000327890 -- 139,273,511(-) TTTTTTTTTTTTTTTTTTTTTT/TTTTTTTTT/TTTTTTTTTTTTTTTTTTTTT intron_variant
rs1000380191 -- 139,273,254(-) C/T intron_variant
rs1000380717 -- 139,266,563(-) A/G 3_prime_UTR_variant
rs1000582062 -- 139,279,248(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MGARP Gene

Variant ID Type Subtype PubMed ID
nsv595582 CNV loss 21841781

Variation tolerance for MGARP Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MGARP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGARP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGARP Gene

Disorders for MGARP Gene

MalaCards: The human disease database

(1) MalaCards diseases for MGARP Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypoxia
- elite association - COSMIC cancer census association via MalaCards
Search MGARP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MGARP

genes like me logo Genes that share disorders with MGARP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MGARP Gene

Publications for MGARP Gene

  1. Expression of ovary-specific acidic protein in steroidogenic tissues: a possible role in steroidogenesis. (PMID: 19325000) Matsumoto T … Yoshimura Y (Endocrinology 2009) 3 4 22 58
  2. The expression of a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is under the regulation of the HPG axis. (PMID: 21447634) Zhou M … Zhang S (Endocrinology 2011) 3 4 58
  3. HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport. (PMID: 19528298) Li Y … Rempe DA (The Journal of cell biology 2009) 3 4 58
  4. Distribution of CESP-1 protein in the corneal endothelium and other tissues. (PMID: 16565373) Kinouchi R … Yamagami S (Investigative ophthalmology & visual science 2006) 3 4 58
  5. Construction of human corneal endothelial cDNA library and identification of novel active genes. (PMID: 12036975) Sakai R … Yamagami S (Investigative ophthalmology & visual science 2002) 3 4 58

Products for MGARP Gene

Sources for MGARP Gene

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