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O54693

- EDA_MOUSE

UniProt

O54693 - EDA_MOUSE

Protein

Ectodysplasin-A

Gene

Eda

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    Functioni

    Involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform TAA binds only to the receptor EDAR, while isoform TA-A2 binds exclusively to the receptor XEDAR.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei159 – 1602Cleavage; by furinBy similarity

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. cell-matrix adhesion Source: MGI
    3. gene expression Source: MGI
    4. hair follicle development Source: MGI
    5. hair follicle placode formation Source: MGI
    6. immune response Source: InterPro
    7. odontogenesis of dentin-containing tooth Source: MGI
    8. pigmentation Source: MGI
    9. positive regulation of canonical Wnt signaling pathway Source: MGI
    10. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: MGI
    11. positive regulation of NF-kappaB import into nucleus Source: MGI
    12. positive regulation of NF-kappaB transcription factor activity Source: Ensembl
    13. salivary gland cavitation Source: MGI
    14. skin development Source: MGI
    15. trachea gland development Source: MGI

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ectodysplasin-A
    Alternative name(s):
    EDA protein homolog
    Tabby protein
    Cleaved into the following 2 chains:
    Gene namesi
    Name:Eda
    Synonyms:Ed1, Ta
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome X

    Organism-specific databases

    MGIiMGI:1195272. Eda.

    Subcellular locationi

    GO - Cellular componenti

    1. apical part of cell Source: MGI
    2. collagen trimer Source: UniProtKB-KW
    3. endoplasmic reticulum membrane Source: MGI
    4. extracellular region Source: UniProtKB-SubCell
    5. integral component of plasma membrane Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Eda are the cause of the tabby phenotype in mice (the equivalent of anhidrotic ectodermal dysplasia in humans). The disease is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 391391Ectodysplasin-A, membrane formPRO_0000034540Add
    BLAST
    Chaini160 – 391232Ectodysplasin-A, secreted formBy similarityPRO_0000034541Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi313 – 3131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi372 – 3721N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.By similarity
    Processing by furin produces a secreted form.By similarity

    Keywords - PTMi

    Cleavage on pair of basic residues, Glycoprotein

    Proteomic databases

    PRIDEiO54693.

    PTM databases

    PhosphoSiteiO54693.

    Expressioni

    Gene expression databases

    BgeeiO54693.
    CleanExiMM_EDA.
    GenevestigatoriO54693.

    Interactioni

    Subunit structurei

    Homotrimer.By similarity

    Protein-protein interaction databases

    BioGridi199371. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliO54693.
    SMRiO54693. Positions 242-390.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4141CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini63 – 391329ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei42 – 6221Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini180 – 22950Collagen-likeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the tumor necrosis factor family.Curated
    Contains 1 collagen-like domain.Curated

    Keywords - Domaini

    Collagen, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG82078.
    GeneTreeiENSGT00730000111220.
    HOGENOMiHOG000231318.
    HOVERGENiHBG005564.
    InParanoidiO54693.
    KOiK05480.
    OMAiDEKPYSE.
    OrthoDBiEOG7FNC89.
    PhylomeDBiO54693.
    TreeFamiTF332099.

    Family and domain databases

    Gene3Di2.60.120.40. 1 hit.
    InterProiIPR008160. Collagen.
    IPR006052. TNF_dom.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view]
    PfamiPF01391. Collagen. 1 hit.
    PF00229. TNF. 1 hit.
    [Graphical view]
    SMARTiSM00207. TNF. 1 hit.
    [Graphical view]
    SUPFAMiSSF49842. SSF49842. 1 hit.
    PROSITEiPS50049. TNF_2. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

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

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform TAA (identifier: O54693-1) [UniParc]FASTAAdd to Basket

    Also known as: A1

    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

    MGYPEVERRE PLPAAAPRER GSQGCGCRGA PARAGEGNSC RLFLGFFGLS    50
    LALHLLTLCC YLELRSELRR ERGTESRLGG PGAPGTSGTL SSPGSLDPVG 100
    PITRHLGQPS FQQQPLEPGE DPLPPDSQDR HQMALLNFFF PDEKAYSEEE 150
    SRRVRRNKRS KSGEGADGPV KNKKKGKKAG PPGPNGPPGP PGPPGPQGPP 200
    GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK TGTRENQPAV 250
    VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT 300
    YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG 350
    VCLLKARQKI AVKMVHADIS INMSKHTTFF GAIRLGEAPA S 391
    Length:391
    Mass (Da):41,603
    Last modified:July 15, 1999 - v2
    Checksum:iE5ECEDA5BD60DEFF
    GO
    Isoform TA-A2 (identifier: O54693-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         307-308: Missing.

    Show »
    Length:389
    Mass (Da):41,375
    Checksum:iA07C1D59AE9D82AE
    GO
    Isoform TA-A3 (identifier: O54693-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-267: Missing.
         307-308: Missing.

    Show »
    Length:386
    Mass (Da):41,060
    Checksum:i1D7ADCB916E4A3F7
    GO
    Isoform TAB (identifier: O54693-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         169-177: PVKNKKKGK → KSTQVIFFP
         178-391: Missing.

    Show »
    Length:177
    Mass (Da):19,297
    Checksum:iD7728EFFEC6C6BF3
    GO
    Isoform TAC (identifier: O54693-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         133-238: MALLNFFFPD...PGLQGPSGAA → VSHLGGAAAL...RAAPGEVWAA
         239-391: Missing.

    Show »
    Length:220
    Mass (Da):23,008
    Checksum:iBB7A04B54D3BC159
    GO
    Isoform TAD (identifier: O54693-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         295-308: Missing.

    Show »
    Length:377
    Mass (Da):39,988
    Checksum:iE9FB3C2A253881AD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti126 – 1261D → E in AAB88121. (PubMed:9285798)Curated
    Sequence conflicti126 – 1261D → E in AAB88122. (PubMed:9285798)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei133 – 238106MALLN…PSGAA → VSHLGGAAALEAPSPARLGG GLGLRAQGTLPLRAKFQGRS WEWAGVLGRGCPGQVVLGSC LGSSRPSPVPWSWKAQPARA APGEVWAA in isoform TAC. 1 PublicationVSP_006465Add
    BLAST
    Alternative sequencei169 – 1779PVKNKKKGK → KSTQVIFFP in isoform TAB. 1 PublicationVSP_006466
    Alternative sequencei178 – 391214Missing in isoform TAB. 1 PublicationVSP_006467Add
    BLAST
    Alternative sequencei239 – 391153Missing in isoform TAC. 1 PublicationVSP_006468Add
    BLAST
    Alternative sequencei265 – 2673Missing in isoform TA-A3. 1 PublicationVSP_006469
    Alternative sequencei295 – 30814Missing in isoform TAD. 1 PublicationVSP_006470Add
    BLAST
    Alternative sequencei307 – 3082Missing in isoform TA-A2 and isoform TA-A3. 2 PublicationsVSP_006471

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF016627 mRNA. Translation: AAB95202.1.
    AF016628 mRNA. Translation: AAB95203.1.
    AF016629 mRNA. Translation: AAB95204.1.
    AF016630 mRNA. Translation: AAB95205.1.
    AF016631 mRNA. Translation: AAB95206.1.
    AF004434 Genomic DNA. Translation: AAB88121.1.
    AF004435 mRNA. Translation: AAB88122.1.
    Y13438 Genomic DNA. Translation: CAA73849.1.
    AJ243657 mRNA. Translation: CAB52696.1.
    AJ243658 mRNA. Translation: CAB52697.1.
    BC144791 mRNA. Translation: AAI44792.1.
    CCDSiCCDS30299.1. [O54693-1]
    CCDS53141.1. [O54693-6]
    CCDS53143.1. [O54693-3]
    RefSeqiNP_001171408.1. NM_001177937.1. [O54693-2]
    NP_001171410.1. NM_001177939.1. [O54693-3]
    NP_001171413.1. NM_001177942.1. [O54693-6]
    NP_034229.1. NM_010099.2. [O54693-1]
    UniGeneiMm.328086.

    Genome annotation databases

    EnsembliENSMUST00000113778; ENSMUSP00000109408; ENSMUSG00000059327. [O54693-3]
    ENSMUST00000113779; ENSMUSP00000109409; ENSMUSG00000059327. [O54693-1]
    ENSMUST00000113780; ENSMUSP00000109410; ENSMUSG00000059327. [O54693-6]
    GeneIDi13607.
    KEGGimmu:13607.
    UCSCiuc009tvo.1. mouse. [O54693-5]
    uc009tvp.1. mouse. [O54693-4]
    uc009tvq.1. mouse. [O54693-1]
    uc009tvu.1. mouse. [O54693-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF016627 mRNA. Translation: AAB95202.1 .
    AF016628 mRNA. Translation: AAB95203.1 .
    AF016629 mRNA. Translation: AAB95204.1 .
    AF016630 mRNA. Translation: AAB95205.1 .
    AF016631 mRNA. Translation: AAB95206.1 .
    AF004434 Genomic DNA. Translation: AAB88121.1 .
    AF004435 mRNA. Translation: AAB88122.1 .
    Y13438 Genomic DNA. Translation: CAA73849.1 .
    AJ243657 mRNA. Translation: CAB52696.1 .
    AJ243658 mRNA. Translation: CAB52697.1 .
    BC144791 mRNA. Translation: AAI44792.1 .
    CCDSi CCDS30299.1. [O54693-1 ]
    CCDS53141.1. [O54693-6 ]
    CCDS53143.1. [O54693-3 ]
    RefSeqi NP_001171408.1. NM_001177937.1. [O54693-2 ]
    NP_001171410.1. NM_001177939.1. [O54693-3 ]
    NP_001171413.1. NM_001177942.1. [O54693-6 ]
    NP_034229.1. NM_010099.2. [O54693-1 ]
    UniGenei Mm.328086.

    3D structure databases

    ProteinModelPortali O54693.
    SMRi O54693. Positions 242-390.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 199371. 1 interaction.

    PTM databases

    PhosphoSitei O54693.

    Proteomic databases

    PRIDEi O54693.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000113778 ; ENSMUSP00000109408 ; ENSMUSG00000059327 . [O54693-3 ]
    ENSMUST00000113779 ; ENSMUSP00000109409 ; ENSMUSG00000059327 . [O54693-1 ]
    ENSMUST00000113780 ; ENSMUSP00000109410 ; ENSMUSG00000059327 . [O54693-6 ]
    GeneIDi 13607.
    KEGGi mmu:13607.
    UCSCi uc009tvo.1. mouse. [O54693-5 ]
    uc009tvp.1. mouse. [O54693-4 ]
    uc009tvq.1. mouse. [O54693-1 ]
    uc009tvu.1. mouse. [O54693-2 ]

    Organism-specific databases

    CTDi 1896.
    MGIi MGI:1195272. Eda.

    Phylogenomic databases

    eggNOGi NOG82078.
    GeneTreei ENSGT00730000111220.
    HOGENOMi HOG000231318.
    HOVERGENi HBG005564.
    InParanoidi O54693.
    KOi K05480.
    OMAi DEKPYSE.
    OrthoDBi EOG7FNC89.
    PhylomeDBi O54693.
    TreeFami TF332099.

    Miscellaneous databases

    NextBioi 284246.
    PROi O54693.
    SOURCEi Search...

    Gene expression databases

    Bgeei O54693.
    CleanExi MM_EDA.
    Genevestigatori O54693.

    Family and domain databases

    Gene3Di 2.60.120.40. 1 hit.
    InterProi IPR008160. Collagen.
    IPR006052. TNF_dom.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view ]
    Pfami PF01391. Collagen. 1 hit.
    PF00229. TNF. 1 hit.
    [Graphical view ]
    SMARTi SM00207. TNF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49842. SSF49842. 1 hit.
    PROSITEi PS50049. TNF_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains."
      Srivastava A.K., Pispa J., Hartung A.J., Du Y., Ezer S., Jenks T., Shimada T., Pekkanen M., Mikkola M.L., Ko M.S.H., Thesleff I., Kere J., Schlessinger D.
      Proc. Natl. Acad. Sci. U.S.A. 94:13069-13074(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS TAA; TAB AND TAC).
      Strain: 129/Sv.
    2. "Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain."
      Ferguson B.M., Brockdorff N., Formstone E., Ngyuen T., Kronmiller J.E., Zonana J.
      Hum. Mol. Genet. 6:1589-1594(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM TAD).
    3. "Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion."
      Mikkola M.L., Pispa J., Pekkanen M., Paulin L., Nieminen P., Kere J., Thesleff I.
      Mech. Dev. 88:133-146(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS TA-A2 AND TA-A3).
      Tissue: Embryo.
    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] (ISOFORM TA-A2).
      Tissue: Brain.

    Entry informationi

    Entry nameiEDA_MOUSE
    AccessioniPrimary (citable) accession number: O54693
    Secondary accession number(s): B7ZMT7
    , O35705, Q9QWJ8, Q9QZ01, Q9QZ02
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 126 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3