Human Gene MGARP (ENST00000398955.2) Description and Page Index
  Description: Homo sapiens mitochondria localized glutamic acid rich protein (MGARP), mRNA. (from RefSeq NM_032623)
Gencode Transcript: ENST00000398955.2
Gencode Gene: ENSG00000137463.5
Transcript (Including UTRs)
   Position: hg38 chr4:139,266,165-139,280,225 Size: 14,061 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr4:139,266,599-139,280,158 Size: 13,560 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:139,266,165-139,280,225)mRNA (may differ from genome)Protein (240 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtPubMedStanford SOURCE
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: HUMMR_HUMAN
DESCRIPTION: RecName: Full=Protein MGARP; AltName: Full=Corneal endothelium-specific protein 1; Short=CESP-1; AltName: Full=Hypoxia up-regulated mitochondrial movement regulator protein; AltName: Full=Mitochondria-localized glutamic acid-rich protein; AltName: Full=Ovary-specific acidic protein;
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).
SUBUNIT: Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1 (By similarity). Interacts with RHOT2/Miro-2.
SUBCELLULAR LOCATION: 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).
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.

-  MalaCards Disease Associations
  MalaCards Gene Search: MGARP
Diseases sorted by gene-association score: hypoxia (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.40 RPKM in Adrenal Gland
Total median expression: 94.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.8067-0.430 Picture PostScript Text
3' UTR -80.30434-0.185 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026093 - Osap

ModBase Predicted Comparative 3D Structure on Q8TDB4
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006626 protein targeting to mitochondrion
GO:0008089 anterograde axonal transport
GO:0008090 retrograde axonal transport
GO:0010821 regulation of mitochondrion organization
GO:0010822 positive regulation of mitochondrion organization
GO:0019896 axonal transport of mitochondrion
GO:0071383 cellular response to steroid hormone stimulus
GO:0071456 cellular response to hypoxia
GO:0097211 cellular response to gonadotropin-releasing hormone

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031307 integral component of mitochondrial outer membrane
GO:1904115 axon cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF484960 - Homo sapiens corneal endothelium specific protein 1 mRNA, complete cds.
AF329088 - Homo sapiens ovary-specific acidic protein mRNA, complete cds.
BC037987 - Homo sapiens chromosome 4 open reading frame 49, mRNA (cDNA clone IMAGE:5521239), containing frame-shift errors.
JD251347 - Sequence 232371 from Patent EP1572962.
JD531861 - Sequence 512885 from Patent EP1572962.
BC104173 - Homo sapiens chromosome 4 open reading frame 49, mRNA (cDNA clone MGC:125827 IMAGE:40030666), complete cds.
BC104174 - Homo sapiens chromosome 4 open reading frame 49, mRNA (cDNA clone MGC:125828 IMAGE:40030667), complete cds.
KJ895026 - Synthetic construct Homo sapiens clone ccsbBroadEn_04420 C4orf49 gene, encodes complete protein.
JD343607 - Sequence 324631 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C4orf49, CESP1, GS3582, HUMMR, HUMMR_HUMAN, NM_032623, OSAP, Q8TDB4, Q9BZC3, uc003ihr.1, uc003ihr.2
UCSC ID: uc003ihr.2
RefSeq Accession: NM_032623
Protein: Q8TDB4 (aka HUMMR_HUMAN)
CCDS: CCDS43269.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.