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

-  Comments and Description Text from UniProtKB
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
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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     
Protein SequenceProtein Sequence    

-  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.