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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).

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

Regulatory Elements for MGARP Gene

Enhancers for MGARP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G139312 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -34.5 -34489 4.8 HDAC1 PKNOX1 NFIB RAD21 YY1 ZNF335 FOS IKZF2 CREM ZNF263 NDUFC1 MGARP RAB33B H3F3AP6 ELF2 GC04P139319
GH04G139241 1.4 Ensembl ENCODE dbSUPER 19.5 +37.4 37409 3.5 PKNOX1 INSM2 FEZF1 BRCA1 RAD21 RFX5 YY1 ZNF366 FOS ZNF362 MGARP ELF2 NDUFC1 RAB33B GC04M139257 RNU6-506P RNU6-1074P
GH04G139156 1 ENCODE dbSUPER 20.8 +121.6 121568 4.7 ZFP64 ZNF101 ZNF697 CHAMP1 ZFHX2 ZNF600 EGR2 ZNF263 ZNF202 MAZ MGARP NAA15 RNU6-1074P NOCT LOC105377448 ENSG00000276396 GC04P139173
GH04G139188 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +91.4 91423 1.8 HDGF PKNOX1 ZNF133 FEZF1 TCF12 ZNF263 MAFF RFX3 SMARCA4 PBX2 NOCT MGARP RNU6-1074P ELF2 RAB33B RN7SL311P GC04P139201
GH04G139213 1.5 Ensembl ENCODE dbSUPER 12.2 +66.0 66004 1.6 PKNOX1 ATF1 SIN3A ZNF766 GATA2 GTF2B NCOA1 PPARG ZNF518A ZNF592 RNU6-1074P ELF2 MGARP MAML3 RAB33B GC04P139211 RNU6-506P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MGARP on UCSC Golden Path with GeneCards custom track

Promoters for MGARP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000173683 438 1001 CTCF ZNF211 KLF1 ARNT SUZ12 ZSCAN4 RBBP5 HIC1 GLIS2 ZBTB48

Genomic Location for MGARP Gene

Chromosome:
4
Start:
139,266,163 bp from pter
End:
139,280,338 bp from pter
Size:
14,176 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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 Gene Families and 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for MGARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 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,IEA --
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: Q8TDB4-HUMMR_HUMAN ENSP00000381928 for MGARP Gene via IID STRING

Gene Ontology (GO) - Biological Process for MGARP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion IEA,ISS --
GO:0008089 anterograde axonal transport ISS --
GO:0008090 retrograde axonal transport IEA,ISS --
GO:0010821 regulation of mitochondrion organization IBA --
GO:0010822 positive regulation of mitochondrion organization IEA,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

Clone 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 34 35
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia MGARP 34 35
  • 79.08 (n)
dog
(Canis familiaris)
Mammalia MGARP 34 35
  • 76.95 (n)
rat
(Rattus norvegicus)
Mammalia Mgarp 34
  • 67.22 (n)
mouse
(Mus musculus)
Mammalia Mgarp 34 16 35
  • 66.2 (n)
oppossum
(Monodelphis domestica)
Mammalia MGARP 35
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGARP 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MGARP 35
  • 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 Sequence Context AA Info Type
rs1000293754 -- 139,278,962(+) TCAAC(C/G)TGAAA intron-variant
rs1000327890 -- 139,273,511(+) TATTC(-/TTTTTTTTTTTTT)TTTTT intron-variant
rs1000380191 -- 139,273,254(+) TTGTT(C/T)TGTTG intron-variant
rs1000380717 -- 139,266,563(+) ACCCT(A/G)TGGCA utr-variant-3-prime
rs1000582062 -- 139,279,248(+) AGCAC(C/G)TACTA 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)

Relevant External Links 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

Relevant External Links for MGARP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  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 64
  3. HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport. (PMID: 19528298) Li Y. … Rempe D.A. (J. Cell Biol. 2009) 3 4 64
  4. Distribution of CESP-1 protein in the corneal endothelium and other tissues. (PMID: 16565373) Kinouchi R. … Yamagami S. (Invest. Ophthalmol. Vis. Sci. 2006) 3 4 64
  5. Construction of human corneal endothelial cDNA library and identification of novel active genes. (PMID: 12036975) Sakai R. … Yamagami S. (Invest. Ophthalmol. Vis. Sci. 2002) 3 4 64

Products for MGARP Gene

Sources for MGARP Gene

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