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O54693

- EDA_MOUSE

UniProt

O54693 - EDA_MOUSE

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Protein
Ectodysplasin-A
Gene
Eda, Ed1, Ta
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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 furin By 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 I-kappaB kinase/NF-kappaB signaling Source: MGI
  10. positive regulation of NF-kappaB import into nucleus Source: MGI
  11. positive regulation of NF-kappaB transcription factor activity Source: Ensembl
  12. positive regulation of canonical Wnt signaling pathway Source: MGI
  13. salivary gland cavitation Source: MGI
  14. skin development Source: MGI
  15. trachea gland development Source: MGI
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4141Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei42 – 6221Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini63 – 391329Extracellular Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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 form
PRO_0000034540Add
BLAST
Chaini160 – 391232Ectodysplasin-A, secreted form By similarity
PRO_0000034541Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei133 – 238106MALLN…PSGAA → VSHLGGAAALEAPSPARLGG GLGLRAQGTLPLRAKFQGRS WEWAGVLGRGCPGQVVLGSC LGSSRPSPVPWSWKAQPARA APGEVWAA in isoform TAC.
VSP_006465Add
BLAST
Alternative sequencei169 – 1779PVKNKKKGK → KSTQVIFFP in isoform TAB.
VSP_006466
Alternative sequencei178 – 391214Missing in isoform TAB.
VSP_006467Add
BLAST
Alternative sequencei239 – 391153Missing in isoform TAC.
VSP_006468Add
BLAST
Alternative sequencei265 – 2673Missing in isoform TA-A3.
VSP_006469
Alternative sequencei295 – 30814Missing in isoform TAD.
VSP_006470Add
BLAST
Alternative sequencei307 – 3082Missing in isoform TA-A2 and isoform TA-A3.
VSP_006471

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti126 – 1261D → E in AAB88121. 1 Publication
Sequence conflicti126 – 1261D → E in AAB88122. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 125 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

Similar proteinsi