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Q14696

- MESD_HUMAN

UniProt

Q14696 - MESD_HUMAN

Protein

LDLR chaperone MESD

Gene

MESDC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (25 Oct 2002)
      Previous versions | rss
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    Functioni

    Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction.2 Publications

    GO - Biological processi

    1. mesoderm development Source: UniProtKB
    2. protein folding Source: UniProtKB
    3. protein localization to cell surface Source: Ensembl
    4. Wnt signaling pathway Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chaperone

    Keywords - Biological processi

    Wnt signaling pathway

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    LDLR chaperone MESD
    Alternative name(s):
    Mesoderm development candidate 2
    Mesoderm development protein
    Renal carcinoma antigen NY-REN-61
    Gene namesi
    Name:MESDC2
    Synonyms:KIAA0081, MESD
    ORF Names:UNQ1911/PRO4369
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:13520. MESDC2.

    Subcellular locationi

    Endoplasmic reticulum 2 Publications

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB-SubCell
    2. plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30761.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3333Sequence AnalysisAdd
    BLAST
    Chaini34 – 234201LDLR chaperone MESDPRO_0000096443Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi201 – 2011N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ14696.
    PaxDbiQ14696.
    PeptideAtlasiQ14696.
    PRIDEiQ14696.

    2D gel databases

    OGPiQ14696.

    PTM databases

    PhosphoSiteiQ14696.

    Expressioni

    Gene expression databases

    ArrayExpressiQ14696.
    BgeeiQ14696.
    CleanExiHS_MESDC2.
    GenevestigatoriQ14696.

    Organism-specific databases

    HPAiHPA039414.
    HPA041721.

    Interactioni

    Subunit structurei

    Monomer By similarity. Interacts with LRP5; the interaction prevents LRP5 from forming aggregates and chaperones LRP6 to the plasma membrane. Interacts with LRP6; the interaction prevents LRP6 from forming aggregates and chaperones LRP6 to the plasma membrane.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi116794. 13 interactions.
    IntActiQ14696. 8 interactions.
    MINTiMINT-7006206.
    STRINGi9606.ENSP00000261758.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14696.
    SMRiQ14696. Positions 40-234.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 164164Chaperone domainBy similarityAdd
    BLAST
    Regioni165 – 20440Escort domainBy similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi231 – 2344Prevents secretion from ER

    Domaini

    The chaperone domain provides a folding template for proper folding of the beta-propeller (BP) domains of LRP5/6.By similarity
    The escort domain ensures LRP5/6 safe-trafficking from the ER to the Golgi by preventing premature ligand-binding.By similarity

    Sequence similaritiesi

    Belongs to the MESD family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG286690.
    HOGENOMiHOG000230558.
    InParanoidiQ14696.
    OMAiFATIGHR.
    OrthoDBiEOG7XPZ76.
    PhylomeDBiQ14696.
    TreeFamiTF315614.

    Family and domain databases

    InterProiIPR019330. Mesoderm_development_cand-2.
    [Graphical view]
    PfamiPF10185. Mesd. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14696-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAASRWARKA VVLLCASDLL LLLLLLPPPG SCAAEGSPGT PDESTPPPRK    50
    KKKDIRDYND ADMARLLEQW EKDDDIEEGD LPEHKRPSAP VDFSKIDPSK 100
    PESILKMTKK GKTLMMFVTV SGSPTEKETE EITSLWQGSL FNANYDVQRF 150
    IVGSDRAIFM LRDGSYAWEI KDFLVGQDRC ADVTLEGQVY PGKGGGSKEK 200
    NKTKQDKGKK KKEGDLKSRS SKEENRAGNK REDL 234
    Length:234
    Mass (Da):26,077
    Last modified:October 25, 2002 - v2
    Checksum:i7F0D796A3CC4E339
    GO
    Isoform 2 (identifier: Q14696-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         72-138: KDDDIEEGDL...TEEITSLWQG → TPEPLPVLPE...WLPHRGGELK
         139-234: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:138
    Mass (Da):14,895
    Checksum:iC4035DB3367BEA7F
    GO

    Sequence cautioni

    The sequence BAA07640.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei72 – 13867KDDDI…SLWQG → TPEPLPVLPEVPSTCACLSS ASLIWTCFSHLSPHALVKRV WPPAKQGLGGKESPASAWLP HRGGELK in isoform 2. 1 PublicationVSP_055492Add
    BLAST
    Alternative sequencei139 – 23496Missing in isoform 2. 1 PublicationVSP_055493Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D42039 mRNA. Translation: BAA07640.2. Different initiation.
    AY359110 mRNA. Translation: AAQ89468.1.
    AK301416 mRNA. Translation: BAG62946.1.
    AC027808 Genomic DNA. No translation available.
    AC068870 Genomic DNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99109.1.
    CH471136 Genomic DNA. Translation: EAW99110.1.
    BC009210 mRNA. Translation: AAH09210.1.
    BC012746 mRNA. Translation: AAH12746.1.
    CCDSiCCDS32308.1.
    RefSeqiNP_055969.1. NM_015154.1.
    UniGeneiHs.578450.
    Hs.732380.

    Genome annotation databases

    EnsembliENST00000261758; ENSP00000261758; ENSG00000117899. [Q14696-1]
    ENST00000422879; ENSP00000403839; ENSG00000117899. [Q14696-2]
    ENST00000561312; ENSP00000453430; ENSG00000117899. [Q14696-1]
    GeneIDi23184.
    KEGGihsa:23184.
    UCSCiuc002bfy.1. human.

    Polymorphism databases

    DMDMi24418861.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D42039 mRNA. Translation: BAA07640.2 . Different initiation.
    AY359110 mRNA. Translation: AAQ89468.1 .
    AK301416 mRNA. Translation: BAG62946.1 .
    AC027808 Genomic DNA. No translation available.
    AC068870 Genomic DNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99109.1 .
    CH471136 Genomic DNA. Translation: EAW99110.1 .
    BC009210 mRNA. Translation: AAH09210.1 .
    BC012746 mRNA. Translation: AAH12746.1 .
    CCDSi CCDS32308.1.
    RefSeqi NP_055969.1. NM_015154.1.
    UniGenei Hs.578450.
    Hs.732380.

    3D structure databases

    ProteinModelPortali Q14696.
    SMRi Q14696. Positions 40-234.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116794. 13 interactions.
    IntActi Q14696. 8 interactions.
    MINTi MINT-7006206.
    STRINGi 9606.ENSP00000261758.

    PTM databases

    PhosphoSitei Q14696.

    Polymorphism databases

    DMDMi 24418861.

    2D gel databases

    OGPi Q14696.

    Proteomic databases

    MaxQBi Q14696.
    PaxDbi Q14696.
    PeptideAtlasi Q14696.
    PRIDEi Q14696.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261758 ; ENSP00000261758 ; ENSG00000117899 . [Q14696-1 ]
    ENST00000422879 ; ENSP00000403839 ; ENSG00000117899 . [Q14696-2 ]
    ENST00000561312 ; ENSP00000453430 ; ENSG00000117899 . [Q14696-1 ]
    GeneIDi 23184.
    KEGGi hsa:23184.
    UCSCi uc002bfy.1. human.

    Organism-specific databases

    CTDi 23184.
    GeneCardsi GC15M081244.
    HGNCi HGNC:13520. MESDC2.
    HPAi HPA039414.
    HPA041721.
    MIMi 607783. gene.
    neXtProti NX_Q14696.
    PharmGKBi PA30761.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG286690.
    HOGENOMi HOG000230558.
    InParanoidi Q14696.
    OMAi FATIGHR.
    OrthoDBi EOG7XPZ76.
    PhylomeDBi Q14696.
    TreeFami TF315614.

    Miscellaneous databases

    GeneWikii MESDC2.
    GenomeRNAii 23184.
    NextBioi 44647.
    PROi Q14696.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14696.
    Bgeei Q14696.
    CleanExi HS_MESDC2.
    Genevestigatori Q14696.

    Family and domain databases

    InterProi IPR019330. Mesoderm_development_cand-2.
    [Graphical view ]
    Pfami PF10185. Mesd. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1."
      Nagase T., Miyajima N., Tanaka A., Sazuka T., Seki N., Sato S., Tabata S., Ishikawa K., Kawarabayasi Y., Kotani H., Nomura N.
      DNA Res. 2:37-43(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Bone marrow.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Synovium.
    5. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Placenta and Skin.
    8. Cited for: IDENTIFICATION AS A RENAL CANCER ANTIGEN.
      Tissue: Renal cell carcinoma.
    9. "Boca-dependent maturation of beta-propeller/EGF modules in low-density lipoprotein receptor proteins."
      Culi J., Springer T.A., Mann R.S.
      EMBO J. 23:1372-1380(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    10. "Requirement for natively unstructured regions of mesoderm development candidate 2 in promoting low-density lipoprotein receptor-related protein 6 maturation."
      Koduri V., Blacklow S.C.
      Biochemistry 46:6570-6577(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH LRP5 AND LRP6, SUBCELLULAR LOCATION.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMESD_HUMAN
    AccessioniPrimary (citable) accession number: Q14696
    Secondary accession number(s): B4DW84, D3DW96, Q969U1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: October 25, 2002
    Last modified: October 1, 2014
    This is version 113 of the entry and version 2 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 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3