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Protein

Protein MGARP

Gene

MGARP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Protein MGARP
Alternative name(s):
Corneal endothelium-specific protein 1
Short name:
CESP-1
Hypoxia up-regulated mitochondrial movement regulator protein
Mitochondria-localized glutamic acid-rich protein
Ovary-specific acidic protein
Gene namesi
Name:MGARP
Synonyms:C4orf49, CESP1, HUMMR, OSAP
ORF Names:GS3582
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000137463.4
HGNCiHGNC:29969 MGARP
neXtProtiNX_Q8TDB4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 40CytoplasmicBy similarityAdd BLAST40
Transmembranei41 – 63Helical; Anchor for type IV membrane proteinBy similarityAdd BLAST23
Topological domaini64 – 240Mitochondrial intermembraneBy similarityAdd BLAST177

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi84709
OpenTargetsiENSG00000137463
PharmGKBiPA164717327

Polymorphism and mutation databases

BioMutaiMGARP
DMDMi74715889

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003187641 – 240Protein MGARPAdd BLAST240

Proteomic databases

PaxDbiQ8TDB4
PeptideAtlasiQ8TDB4
PRIDEiQ8TDB4
ProteomicsDBi74255

PTM databases

iPTMnetiQ8TDB4
PhosphoSitePlusiQ8TDB4

Expressioni

Tissue specificityi

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.5 Publications

Gene expression databases

BgeeiENSG00000137463
GenevisibleiQ8TDB4 HS

Organism-specific databases

HPAiHPA015994

Interactioni

Subunit structurei

Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1 (By similarity). Interacts with RHOT2/Miro-2.By similarity1 Publication

Protein-protein interaction databases

BioGridi124220, 58 interactors
IntActiQ8TDB4, 3 interactors
MINTiQ8TDB4
STRINGi9606.ENSP00000381928

Structurei

3D structure databases

ProteinModelPortaliQ8TDB4
SMRiQ8TDB4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWK1 Eukaryota
ENOG410Y7BU LUCA
GeneTreeiENSGT00440000037338
HOGENOMiHOG000111473
InParanoidiQ8TDB4
OMAiHTEHITN
OrthoDBiEOG091G0YRU
PhylomeDBiQ8TDB4
TreeFamiTF336324

Family and domain databases

InterProiView protein in InterPro
IPR026093 MGARP
IPR032773 MGARP_N
PANTHERiPTHR22910 PTHR22910, 1 hit
PfamiView protein in Pfam
PF14962 AIF-MLS, 1 hit

Sequencei

Sequence statusi: Complete.

Q8TDB4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MYLRRAVSKT LALPLRAPPN PAPLGKDASL RRMSSNRFPG SSGSNMIYYL
60 70 80 90 100
VVGVTVSAGG YYAYKTVTSD QAKHTEHKTN LKEKTKAEIH PFQGEKENVA
110 120 130 140 150
ETEKASSEAP EELIVEAEVV DAEESPSATV VVIKEASACP GHVEAAPETT
160 170 180 190 200
AVSAETGPEV TDAAARETTE VNPETTPEVT NAALDEAVTI DNDKDTTKNE
210 220 230 240
TSDEYAELEE ENSPAESESS AGDDLQEEAS VGSEAASAQG
Length:240
Mass (Da):25,390
Last modified:June 1, 2002 - v1
Checksum:i6E210FA627635CEC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti240G → RANLQPVDISATNAIGCLIS AFVFLVHLV in AAG59896 (PubMed:12770732).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051256128A → T. Corresponds to variant dbSNP:rs3208941Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF484960 mRNA Translation: AAM09685.1
AF329088 mRNA Translation: AAG59896.1
CH471056 Genomic DNA Translation: EAX05122.1
BC104173 mRNA Translation: AAI04174.1
BC104174 mRNA Translation: AAI04175.1
CCDSiCCDS43269.1
RefSeqiNP_116012.2, NM_032623.3
UniGeneiHs.710036

Genome annotation databases

EnsembliENST00000398955; ENSP00000381928; ENSG00000137463
GeneIDi84709
KEGGihsa:84709
UCSCiuc003ihr.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHUMMR_HUMAN
AccessioniPrimary (citable) accession number: Q8TDB4
Secondary accession number(s): Q9BZC3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2002
Last modified: June 20, 2018
This is version 96 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

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