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Protein MGARP (Corneal endothelium-specific protein 1) (CESP-1) (Hypoxia up-regulated mitochondrial movement regulator protein) (Mitochondria-localized glutamic acid-rich protein) (Ovary-specific acidic protein)

 HUMMR_HUMAN             Reviewed;         240 AA.
Q8TDB4; Q9BZC3;
26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
01-JUN-2002, sequence version 1.
27-SEP-2017, entry version 93.
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;
Name=MGARP; Synonyms=C4orf49, CESP1, HUMMR, OSAP; ORFNames=GS3582;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Corneal endothelium;
PubMed=12036975;
Sakai R., Kinouchi T., Kawamoto S., Dana M.R., Hamamoto T., Tsuru T.,
Okubo K., Yamagami S.;
"Construction of human corneal endothelial cDNA library and
identification of novel active genes.";
Invest. Ophthalmol. Vis. Sci. 43:1749-1756(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Ovary;
PubMed=12770732; DOI=10.1016/S0303-7207(03)00064-9;
Tanaka M., Hennebold J.D., Miyakoshi K., Teranishi T., Ueno K.,
Adashi E.Y.;
"The generation and characterization of an ovary-selective cDNA
library.";
Mol. Cell. Endocrinol. 202:67-69(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
PubMed=16565373; DOI=10.1167/iovs.05-0602;
Kinouchi R., Kinouchi T., Hamamoto T., Saito T., Tavares A., Tsuru T.,
Yamagami S.;
"Distribution of CESP-1 protein in the corneal endothelium and other
tissues.";
Invest. Ophthalmol. Vis. Sci. 47:1397-1403(2006).
[6]
TISSUE SPECIFICITY.
PubMed=19325000; DOI=10.1210/en.2008-1584;
Matsumoto T., Minegishi K., Ishimoto H., Tanaka M., Hennebold J.D.,
Teranishi T., Hattori Y., Furuya M., Higuchi T., Asai S., Kim S.H.,
Miyakoshi K., Yoshimura Y.;
"Expression of ovary-specific acidic protein in steroidogenic tissues:
a possible role in steroidogenesis.";
Endocrinology 150:3353-3359(2009).
[7]
INTERACTION WITH RHOT2, AND TISSUE SPECIFICITY.
PubMed=19528298; DOI=10.1083/jcb.200811033;
Li Y., Lim S., Hoffman D., Aspenstrom P., Federoff H.J., Rempe D.A.;
"HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters
mitochondrial distribution and transport.";
J. Cell Biol. 185:1065-1081(2009).
[8]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[9]
SUBCELLULAR LOCATION.
PubMed=21447634; DOI=10.1210/en.2011-0050;
Zhou M., Wang Y., Qi S., Wang J., Zhang S.;
"The expression of a mitochondria-localized glutamic acid-rich protein
(MGARP/OSAP) is under the regulation of the HPG axis.";
Endocrinology 152:2311-2320(2011).
-!- 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). {ECO:0000250}.
-!- SUBUNIT: Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1
(By similarity). Interacts with RHOT2/Miro-2. {ECO:0000250,
ECO:0000269|PubMed:19528298}.
-!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16565373,
ECO:0000269|PubMed:21447634}. Mitochondrion outer membrane
{ECO:0000250|UniProtKB:Q8VI64}; Single-pass type IV membrane
protein {ECO:0000250|UniProtKB:Q8VI64}; Cytoplasmic side
{ECO:0000250|UniProtKB:Q8VI64}. Note=Colocalizes with RHOT1,
RHOT2, TRAK1 and TRAK2 at the mitochondrion.
{ECO:0000250|UniProtKB:Q8VI64}.
-!- 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.
{ECO:0000269|PubMed:12036975, ECO:0000269|PubMed:12770732,
ECO:0000269|PubMed:16565373, ECO:0000269|PubMed:19325000,
ECO:0000269|PubMed:19528298}.
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EMBL; AF484960; AAM09685.1; -; mRNA.
EMBL; AF329088; AAG59896.1; -; mRNA.
EMBL; CH471056; EAX05122.1; -; Genomic_DNA.
EMBL; BC104173; AAI04174.1; -; mRNA.
EMBL; BC104174; AAI04175.1; -; mRNA.
CCDS; CCDS43269.1; -.
RefSeq; NP_116012.2; NM_032623.3.
UniGene; Hs.710036; -.
ProteinModelPortal; Q8TDB4; -.
SMR; Q8TDB4; -.
BioGrid; 124220; 58.
IntAct; Q8TDB4; 3.
STRING; 9606.ENSP00000381928; -.
iPTMnet; Q8TDB4; -.
PhosphoSitePlus; Q8TDB4; -.
BioMuta; MGARP; -.
DMDM; 74715889; -.
EPD; Q8TDB4; -.
PaxDb; Q8TDB4; -.
PeptideAtlas; Q8TDB4; -.
PRIDE; Q8TDB4; -.
Ensembl; ENST00000398955; ENSP00000381928; ENSG00000137463.
GeneID; 84709; -.
KEGG; hsa:84709; -.
UCSC; uc003ihr.1; human.
CTD; 84709; -.
DisGeNET; 84709; -.
EuPathDB; HostDB:ENSG00000137463.4; -.
GeneCards; MGARP; -.
H-InvDB; HIX0200666; -.
HGNC; HGNC:29969; MGARP.
HPA; HPA015994; -.
neXtProt; NX_Q8TDB4; -.
OpenTargets; ENSG00000137463; -.
PharmGKB; PA164717327; -.
eggNOG; ENOG410IWK1; Eukaryota.
eggNOG; ENOG410Y7BU; LUCA.
GeneTree; ENSGT00440000037338; -.
HOGENOM; HOG000111473; -.
InParanoid; Q8TDB4; -.
OMA; HTEHITN; -.
OrthoDB; EOG091G0YRU; -.
PhylomeDB; Q8TDB4; -.
TreeFam; TF336324; -.
GenomeRNAi; 84709; -.
PRO; PR:Q8TDB4; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000137463; -.
Genevisible; Q8TDB4; HS.
GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
GO; GO:0031307; C:integral component of mitochondrial outer membrane; ISS:UniProtKB.
GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
GO; GO:0008089; P:anterograde axonal transport; ISS:UniProtKB.
GO; GO:0019896; P:axonal transport of mitochondrion; ISS:UniProtKB.
GO; GO:0097211; P:cellular response to gonadotropin-releasing hormone; ISS:UniProtKB.
GO; GO:0071456; P:cellular response to hypoxia; ISS:UniProtKB.
GO; GO:0071383; P:cellular response to steroid hormone stimulus; ISS:UniProtKB.
GO; GO:0010822; P:positive regulation of mitochondrion organization; ISS:UniProtKB.
GO; GO:0006626; P:protein targeting to mitochondrion; ISS:UniProtKB.
GO; GO:0010821; P:regulation of mitochondrion organization; IBA:GO_Central.
GO; GO:0008090; P:retrograde axonal transport; ISS:UniProtKB.
InterPro; IPR026093; MGARP.
InterPro; IPR032773; MGARP_N.
PANTHER; PTHR22910; PTHR22910; 1.
Pfam; PF14962; AIF-MLS; 1.
1: Evidence at protein level;
Complete proteome; Membrane; Mitochondrion;
Mitochondrion outer membrane; Polymorphism; Reference proteome;
Transmembrane; Transmembrane helix.
CHAIN 1 240 Protein MGARP.
/FTId=PRO_0000318764.
TOPO_DOM 1 40 Cytoplasmic. {ECO:0000250}.
TRANSMEM 41 63 Helical; Anchor for type IV membrane
protein. {ECO:0000250}.
TOPO_DOM 64 240 Mitochondrial intermembrane.
{ECO:0000250}.
VARIANT 128 128 A -> T (in dbSNP:rs3208941).
/FTId=VAR_051256.
CONFLICT 240 240 G -> RANLQPVDISATNAIGCLISAFVFLVHLV (in
Ref. 2; AAG59896). {ECO:0000305}.
SEQUENCE 240 AA; 25390 MW; 6E210FA627635CEC CRC64;
MYLRRAVSKT LALPLRAPPN PAPLGKDASL RRMSSNRFPG SSGSNMIYYL VVGVTVSAGG
YYAYKTVTSD QAKHTEHKTN LKEKTKAEIH PFQGEKENVA ETEKASSEAP EELIVEAEVV
DAEESPSATV VVIKEASACP GHVEAAPETT AVSAETGPEV TDAAARETTE VNPETTPEVT
NAALDEAVTI DNDKDTTKNE TSDEYAELEE ENSPAESESS AGDDLQEEAS VGSEAASAQG


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