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Q8TDB4

- HUMMR_HUMAN

UniProt

Q8TDB4 - HUMMR_HUMAN

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Protein

Protein MGARP

Gene

MGARP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- 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

  1. anterograde axon cargo transport Source: UniProtKB
  2. axon transport of mitochondrion Source: UniProtKB
  3. cellular response to gonadotropin-releasing hormone Source: UniProtKB
  4. cellular response to hypoxia Source: UniProtKB
  5. cellular response to steroid hormone stimulus Source: UniProtKB
  6. positive regulation of mitochondrion organization Source: UniProtKB
  7. protein targeting to mitochondrion Source: UniProtKB
  8. retrograde axon cargo transport Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:29969. MGARP.

Subcellular locationi

Membrane Curated; Single-pass membrane protein Curated. Mitochondrion 2 Publications. Mitochondrion outer membrane By similarity; Single-pass type IV membrane protein By similarity; Cytoplasmic side By similarity
Note: Colocalizes with RHOT1, RHOT2, TRAK1 and TRAK2 at the mitochondrion.By similarity

GO - Cellular componenti

  1. integral component of mitochondrial outer membrane Source: UniProtKB
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164717327.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 240240Protein MGARPPRO_0000318764Add
BLAST

Proteomic databases

PaxDbiQ8TDB4.
PRIDEiQ8TDB4.

PTM databases

PhosphoSiteiQ8TDB4.

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

BgeeiQ8TDB4.
GenevestigatoriQ8TDB4.

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. 1 interaction.
IntActiQ8TDB4. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ8TDB4.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4040CytoplasmicBy similarityAdd
BLAST
Topological domaini64 – 240177Mitochondrial intermembraneBy similarityAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6323Helical; Anchor for type IV membrane proteinBy similarityAdd
BLAST

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG44316.
GeneTreeiENSGT00440000037338.
HOGENOMiHOG000111473.
InParanoidiQ8TDB4.
OMAiHTEHITN.
OrthoDBiEOG77Q4Z9.
PhylomeDBiQ8TDB4.
TreeFamiTF336324.

Family and domain databases

InterProiIPR026093. Osap.
[Graphical view]
PANTHERiPTHR22910. PTHR22910. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8TDB4 [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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti240 – 2401G → RANLQPVDISATNAIGCLIS AFVFLVHLV in AAG59896. (PubMed:12770732)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281A → T.
Corresponds to variant rs3208941 [ dbSNP | Ensembl ].
VAR_051256

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi74715889.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS43269.1.
RefSeqi NP_116012.2. NM_032623.3.
UniGenei Hs.710036.

3D structure databases

ProteinModelPortali Q8TDB4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124220. 1 interaction.
IntActi Q8TDB4. 1 interaction.

PTM databases

PhosphoSitei Q8TDB4.

Polymorphism databases

DMDMi 74715889.

Proteomic databases

PaxDbi Q8TDB4.
PRIDEi Q8TDB4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000398955 ; ENSP00000381928 ; ENSG00000137463 .
GeneIDi 84709.
KEGGi hsa:84709.
UCSCi uc003ihr.1. human.

Organism-specific databases

CTDi 84709.
GeneCardsi GC04M140188.
H-InvDB HIX0200666.
HGNCi HGNC:29969. MGARP.
neXtProti NX_Q8TDB4.
PharmGKBi PA164717327.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44316.
GeneTreei ENSGT00440000037338.
HOGENOMi HOG000111473.
InParanoidi Q8TDB4.
OMAi HTEHITN.
OrthoDBi EOG77Q4Z9.
PhylomeDBi Q8TDB4.
TreeFami TF336324.

Miscellaneous databases

GenomeRNAii 84709.
NextBioi 74810.
PROi Q8TDB4.

Gene expression databases

Bgeei Q8TDB4.
Genevestigatori Q8TDB4.

Family and domain databases

InterProi IPR026093. Osap.
[Graphical view ]
PANTHERi PTHR22910. PTHR22910. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Construction of human corneal endothelial cDNA library and identification of novel active genes."
    Sakai R., Kinouchi T., Kawamoto S., Dana M.R., Hamamoto T., Tsuru T., Okubo K., Yamagami S.
    Invest. Ophthalmol. Vis. Sci. 43:1749-1756(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Corneal endothelium.
  2. "The generation and characterization of an ovary-selective cDNA library."
    Tanaka M., Hennebold J.D., Miyakoshi K., Teranishi T., Ueno K., Adashi E.Y.
    Mol. Cell. Endocrinol. 202:67-69(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Ovary.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Distribution of CESP-1 protein in the corneal endothelium and other tissues."
    Kinouchi R., Kinouchi T., Hamamoto T., Saito T., Tavares A., Tsuru T., Yamagami S.
    Invest. Ophthalmol. Vis. Sci. 47:1397-1403(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  6. "Expression of ovary-specific acidic protein in steroidogenic tissues: a possible role in steroidogenesis."
    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.
    Endocrinology 150:3353-3359(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport."
    Li Y., Lim S., Hoffman D., Aspenstrom P., Federoff H.J., Rempe D.A.
    J. Cell Biol. 185:1065-1081(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RHOT2, TISSUE SPECIFICITY.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "The expression of a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is under the regulation of the HPG axis."
    Zhou M., Wang Y., Qi S., Wang J., Zhang S.
    Endocrinology 152:2311-2320(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.

Entry informationi

Entry nameiHUMMR_HUMAN
AccessioniPrimary (citable) accession number: Q8TDB4
Secondary accession number(s): Q9BZC3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2002
Last modified: October 29, 2014
This is version 75 of the entry and version 1 of the sequence. [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

External Data

Dasty 3