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O54693 (EDA_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ectodysplasin-A
Alternative name(s):
EDA protein homolog
Tabby protein
Gene names
Name:Eda
Synonyms:Ed1, Ta
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length391 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

Homotrimer By similarity.

Subcellular location

Cell membrane; Single-pass type II membrane protein By similarity.

Ectodysplasin-A, secreted form: Secreted By similarity.

Post-translational modification

N-glycosylated By similarity.

Processing by furin produces a secreted form By similarity.

Involvement in disease

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.

Sequence similarities

Belongs to the tumor necrosis factor family.

Contains 1 collagen-like domain.

Ontologies

Keywords
   Biological processDifferentiation
   Cellular componentCell membrane
Membrane
Secreted
   Coding sequence diversityAlternative splicing
   DomainCollagen
Signal-anchor
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMCleavage on pair of basic residues
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

cell-matrix adhesion

Inferred from direct assay Ref.3. Source: MGI

gene expression

Inferred from mutant phenotype PubMed 17673451. Source: MGI

hair follicle development

Inferred from mutant phenotype PubMed 18689798PubMed 544312. Source: MGI

hair follicle placode formation

Inferred from genetic interaction PubMed 19619491. Source: MGI

immune response

Inferred from electronic annotation. Source: InterPro

odontogenesis of dentin-containing tooth

Inferred from mutant phenotype PubMed 10610025PubMed 5893447. Source: MGI

pigmentation

Inferred from mutant phenotype PubMed 4561716. Source: MGI

positive regulation of I-kappaB kinase/NF-kappaB signaling

Inferred from mutant phenotype PubMed 18689798. Source: MGI

positive regulation of NF-kappaB import into nucleus

Inferred from direct assay PubMed 12629675. Source: MGI

positive regulation of NF-kappaB transcription factor activity

Inferred from electronic annotation. Source: Ensembl

positive regulation of canonical Wnt signaling pathway

Inferred from mutant phenotype PubMed 19619491. Source: MGI

salivary gland cavitation

Inferred from direct assay PubMed 12629675. Source: MGI

skin development

Inferred from mutant phenotype PubMed 17673451. Source: MGI

trachea gland development

Inferred from mutant phenotype PubMed 15973734. Source: MGI

   Cellular_componentapical part of cell

Inferred from direct assay PubMed 12629675. Source: MGI

collagen trimer

Inferred from electronic annotation. Source: UniProtKB-KW

endoplasmic reticulum membrane

Inferred from direct assay Ref.3. Source: MGI

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of plasma membrane

Inferred from direct assay Ref.3. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform TAA (identifier: O54693-1)

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.
Isoform TA-A2 (identifier: O54693-2)

The sequence of this isoform differs from the canonical sequence as follows:
     307-308: Missing.
Isoform TA-A3 (identifier: O54693-3)

The sequence of this isoform differs from the canonical sequence as follows:
     265-267: Missing.
     307-308: Missing.
Isoform TAB (identifier: O54693-4)

The sequence of this isoform differs from the canonical sequence as follows:
     169-177: PVKNKKKGK → KSTQVIFFP
     178-391: Missing.
Isoform TAC (identifier: O54693-5)

The sequence of this isoform differs from the canonical sequence as follows:
     133-238: MALLNFFFPD...PGLQGPSGAA → VSHLGGAAAL...RAAPGEVWAA
     239-391: Missing.
Isoform TAD (identifier: O54693-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 391391Ectodysplasin-A, membrane form
PRO_0000034540
Chain160 – 391232Ectodysplasin-A, secreted form By similarity
PRO_0000034541

Regions

Topological domain1 – 4141Cytoplasmic Potential
Transmembrane42 – 6221Helical; Signal-anchor for type II membrane protein; Potential
Topological domain63 – 391329Extracellular Potential
Domain180 – 22950Collagen-like

Sites

Site159 – 1602Cleavage; by furin By similarity

Amino acid modifications

Glycosylation3131N-linked (GlcNAc...) Potential
Glycosylation3721N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence133 – 238106MALLN…PSGAA → VSHLGGAAALEAPSPARLGG GLGLRAQGTLPLRAKFQGRS WEWAGVLGRGCPGQVVLGSC LGSSRPSPVPWSWKAQPARA APGEVWAA in isoform TAC.
VSP_006465
Alternative sequence169 – 1779PVKNKKKGK → KSTQVIFFP in isoform TAB.
VSP_006466
Alternative sequence178 – 391214Missing in isoform TAB.
VSP_006467
Alternative sequence239 – 391153Missing in isoform TAC.
VSP_006468
Alternative sequence265 – 2673Missing in isoform TA-A3.
VSP_006469
Alternative sequence295 – 30814Missing in isoform TAD.
VSP_006470
Alternative sequence307 – 3082Missing in isoform TA-A2 and isoform TA-A3.
VSP_006471

Experimental info

Sequence conflict1261D → E in AAB88121. Ref.2
Sequence conflict1261D → E in AAB88122. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform TAA (A1) [UniParc].

Last modified July 15, 1999. Version 2.
Checksum: E5ECEDA5BD60DEFF

FASTA39141,603
        10         20         30         40         50         60 
MGYPEVERRE PLPAAAPRER GSQGCGCRGA PARAGEGNSC RLFLGFFGLS LALHLLTLCC 

        70         80         90        100        110        120 
YLELRSELRR ERGTESRLGG PGAPGTSGTL SSPGSLDPVG PITRHLGQPS FQQQPLEPGE 

       130        140        150        160        170        180 
DPLPPDSQDR HQMALLNFFF PDEKAYSEEE SRRVRRNKRS KSGEGADGPV KNKKKGKKAG 

       190        200        210        220        230        240 
PPGPNGPPGP PGPPGPQGPP GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK 

       250        260        270        280        290        300 
TGTRENQPAV VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT 

       310        320        330        340        350        360 
YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG VCLLKARQKI 

       370        380        390 
AVKMVHADIS INMSKHTTFF GAIRLGEAPA S 

« Hide

Isoform TA-A2 [UniParc].

Checksum: A07C1D59AE9D82AE
Show »

FASTA38941,375
Isoform TA-A3 [UniParc].

Checksum: 1D7ADCB916E4A3F7
Show »

FASTA38641,060
Isoform TAB [UniParc].

Checksum: D7728EFFEC6C6BF3
Show »

FASTA17719,297
Isoform TAC [UniParc].

Checksum: BB7A04B54D3BC159
Show »

FASTA22023,008
Isoform TAD [UniParc].

Checksum: E9FB3C2A253881AD
Show »

FASTA37739,988

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS30299.1. [O54693-1]
CCDS53141.1. [O54693-6]
CCDS53143.1. [O54693-3]
RefSeqNP_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]
UniGeneMm.328086.

3D structure databases

ProteinModelPortalO54693.
SMRO54693. Positions 242-390.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid199371. 1 interaction.

PTM databases

PhosphoSiteO54693.

Proteomic databases

PRIDEO54693.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000113778; ENSMUSP00000109408; ENSMUSG00000059327. [O54693-3]
ENSMUST00000113779; ENSMUSP00000109409; ENSMUSG00000059327. [O54693-1]
ENSMUST00000113780; ENSMUSP00000109410; ENSMUSG00000059327. [O54693-6]
GeneID13607.
KEGGmmu:13607.
UCSCuc009tvo.1. mouse. [O54693-5]
uc009tvp.1. mouse. [O54693-4]
uc009tvq.1. mouse. [O54693-1]
uc009tvu.1. mouse. [O54693-2]

Organism-specific databases

CTD1896.
MGIMGI:1195272. Eda.

Phylogenomic databases

eggNOGNOG82078.
GeneTreeENSGT00730000111220.
HOGENOMHOG000231318.
HOVERGENHBG005564.
InParanoidO54693.
KOK05480.
OMADEKPYSE.
OrthoDBEOG7FNC89.
PhylomeDBO54693.
TreeFamTF332099.

Gene expression databases

BgeeO54693.
CleanExMM_EDA.
GenevestigatorO54693.

Family and domain databases

Gene3D2.60.120.40. 1 hit.
InterProIPR008160. Collagen.
IPR006052. TNF_dom.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamPF01391. Collagen. 1 hit.
PF00229. TNF. 1 hit.
[Graphical view]
SMARTSM00207. TNF. 1 hit.
[Graphical view]
SUPFAMSSF49842. SSF49842. 1 hit.
PROSITEPS50049. TNF_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio284246.
PROO54693.
SOURCESearch...

Entry information

Entry nameEDA_MOUSE
AccessionPrimary (citable) accession number: O54693
Secondary accession number(s): B7ZMT7 expand/collapse secondary AC list , O35705, Q9QWJ8, Q9QZ01, Q9QZ02
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot