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Q8TDB4

- HUMMR_HUMAN

UniProt

Q8TDB4 - HUMMR_HUMAN

Protein

Protein MGARP

Gene

MGARP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    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 - Molecular functioni

    1. protein binding Source: UniProtKB

    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

    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

    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.
    HOGENOMiHOG000111473.
    OMAiHTEHITN.
    OrthoDBiEOG77Q4Z9.
    PhylomeDBiQ8TDB4.
    TreeFamiTF336324.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q8TDB4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MYLRRAVSKT LALPLRAPPN PAPLGKDASL RRMSSNRFPG SSGSNMIYYL    50
    VVGVTVSAGG YYAYKTVTSD QAKHTEHKTN LKEKTKAEIH PFQGEKENVA 100
    ETEKASSEAP EELIVEAEVV DAEESPSATV VVIKEASACP GHVEAAPETT 150
    AVSAETGPEV TDAAARETTE VNPETTPEVT NAALDEAVTI DNDKDTTKNE 200
    TSDEYAELEE ENSPAESESS AGDDLQEEAS VGSEAASAQG 240
    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.
    HOGENOMi HOG000111473.
    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

    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 1, 2014
    This is version 74 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