Ectodysplasin A

Protein-coding gene in humans
EDA
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1RJ7, 1RJ8

Identifiers
AliasesEDA, ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, XHED, XLHED, TNLG7C, ectodysplasin A
External IDsOMIM: 300451; MGI: 1195272; GeneCards: EDA; OMA:EDA - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for EDA
Genomic location for EDA
BandXq13.1Start69,616,067 bp[1]
End70,039,472 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for EDA
Genomic location for EDA
BandX C3|X 43.59 cMStart99,019,212 bp[2]
End99,444,368 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • oocyte

  • right auricle

  • left adrenal gland

  • left adrenal cortex

  • secondary oocyte

  • right adrenal cortex

  • gonad

  • apex of heart

  • buccal mucosa cell
Top expressed in
  • dental lamina

  • saccule

  • ectoderm

  • otic vesicle

  • otic placode

  • Outer enamel epithelium

  • entorhinal cortex

  • perirhinal cortex

  • choroid plexus of fourth ventricle

  • secondary oocyte
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
  • tumor necrosis factor receptor binding
  • signaling receptor binding
  • death receptor agonist activity
  • death receptor binding
Cellular component
  • integral component of membrane
  • collagen
  • endoplasmic reticulum membrane
  • membrane
  • plasma membrane
  • apical part of cell
  • integral component of plasma membrane
  • extracellular region
  • cytoskeleton
  • lipid droplet
  • intracellular membrane-bounded organelle
Biological process
  • trachea gland development
  • hair follicle placode formation
  • hair follicle development
  • cell differentiation
  • gene expression
  • positive regulation of canonical Wnt signaling pathway
  • salivary gland cavitation
  • tumor necrosis factor-mediated signaling pathway
  • multicellular organism development
  • positive regulation of gene expression
  • positive regulation of NF-kappaB transcription factor activity
  • immune response
  • positive regulation of I-kappaB kinase/NF-kappaB signaling
  • pigmentation
  • cell-matrix adhesion
  • skin development
  • cytokine-mediated signaling pathway
  • regulation of NIK/NF-kappaB signaling
  • odontogenesis of dentin-containing tooth
  • regulation of signaling receptor activity
  • positive regulation of NIK/NF-kappaB signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1896

13607

Ensembl

ENSG00000158813

ENSMUSG00000059327

UniProt

Q92838

O54693

RefSeq (mRNA)
NM_001005609
NM_001005610
NM_001005611
NM_001005612
NM_001005613

NM_001005614
NM_001399

NM_001177937
NM_001177938
NM_001177939
NM_001177940
NM_001177941

NM_001177942
NM_001177943
NM_001177944
NM_010099

RefSeq (protein)

NP_001005609
NP_001005610
NP_001005612
NP_001005613
NP_001390

NP_001171408
NP_001171409
NP_001171410
NP_001171411
NP_001171412

NP_001171413
NP_001171414
NP_001171415
NP_034229

Location (UCSC)Chr X: 69.62 – 70.04 MbChr X: 99.02 – 99.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene.

Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.[5][6] It is recognized by the ectodysplasin A receptor.

Function

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates.[7] Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.[6] At least 61 disease-causing mutations in this gene have been discovered.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158813 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059327 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D (Sep 1996). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein". Nat Genet. 13 (4): 409–16. doi:10.1038/ng0895-409. PMID 8696334. S2CID 25690815.
  6. ^ a b "Entrez Gene: EDA ectodysplasin A".
  7. ^ Barrow-McGee R, Kishi N, Joffre C, Ménard L, Hervieu A, Bakhouche BA, et al. (2016). "Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes". Nature Communications. 7: 11942. Bibcode:2016NatCo...711942B. doi:10.1038/ncomms11942. PMC 4931016. PMID 27336951.
  8. ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.

Further reading

  • Cui CY, Schlessinger D (2007). "EDA signaling and skin appendage development". Cell Cycle. 5 (21): 2477–83. doi:10.4161/cc.5.21.3403. PMC 2860309. PMID 17102627.
  • Srivastava AK, Montonen O, Saarialho-Kere U, Chen E, Baybayan P, Pispa J, Limon J, Schlessinger D, Kere J (1996). "Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed". Am. J. Hum. Genet. 58 (1): 126–32. PMC 1914968. PMID 8554048.
  • Montonen O, Ezer S, Saarialho-Kere UK, Herva R, Karjalainen-Lindsberg ML, Kaitila I, Schlessinger D, Srivastava AK, Thesleff I, Kere J (1998). "The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone". J. Histochem. Cytochem. 46 (3): 281–9. doi:10.1177/002215549804600301. PMID 9487109.
  • Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J (1998). "Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications". J. Med. Genet. 35 (2): 112–5. doi:10.1136/jmg.35.2.112. PMC 1051213. PMID 9507389.
  • Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N (1998). "A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia". Clin. Genet. 53 (3): 205–9. doi:10.1111/j.1399-0004.1998.tb02678.x. PMID 9630076. S2CID 34921334.
  • Monreal AW, Zonana J, Ferguson B (1998). "Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations". Am. J. Hum. Genet. 63 (2): 380–9. doi:10.1086/301984. PMC 1377324. PMID 9683615.
  • Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J (1998). "The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats". Hum. Mol. Genet. 7 (11): 1661–9. doi:10.1093/hmg/7.11.1661. PMID 9736768.
  • Martínez F, Millán JM, Orellana C, Prieto F (1999). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)". J. Invest. Dermatol. 113 (2): 285–6. doi:10.1046/j.1523-1747.1999.00656.x. PMID 10469321.
  • Ezer S, Bayés M, Elomaa O, Schlessinger D, Kere J (1999). "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells". Hum. Mol. Genet. 8 (11): 2079–86. doi:10.1093/hmg/8.11.2079. PMID 10484778.
  • Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM (2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science. 290 (5491): 523–7. Bibcode:2000Sci...290..523Y. doi:10.1126/science.290.5491.523. PMID 11039935.
  • Drögemüller C, Distl O, Leeb T (2001). "Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24". Anim. Genet. 31 (6): 416. doi:10.1046/j.1365-2052.2000.00693.x. PMID 11167539.
  • Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J (2001). "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein". Hum. Mol. Genet. 10 (9): 953–62. doi:10.1093/hmg/10.9.953. PMID 11309369.
  • Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P (2001). "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia". Eur. J. Hum. Genet. 9 (5): 355–63. doi:10.1038/sj.ejhg.5200635. PMID 11378824.
  • Chen Y, Molloy SS, Thomas L, Gambee J, Bächinger HP, Ferguson B, Zonana J, Thomas G, Morris NP (2001). "Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7218–23. Bibcode:2001PNAS...98.7218C. doi:10.1073/pnas.131076098. PMC 34649. PMID 11416205.
  • Sinha SK, Zachariah S, Quiñones HI, Shindo M, Chaudhary PM (2003). "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor". J. Biol. Chem. 277 (47): 44953–61. doi:10.1074/jbc.M207923200. PMID 12270937.
  • Kobielak A, Kobielak K, Biedziak B, Trzeciak WH (2003). "A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia". Acta Biochim. Pol. 50 (1): 255–8. doi:10.18388/abp.2003_3734. PMID 12673367.
  • Zhang XJ, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W (2004). "Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia". Arch. Dermatol. Res. 295 (1): 38–42. doi:10.1007/s00403-003-0394-7. PMID 12682853. S2CID 26573351.
  • Nishibu A, Hashiguchi T, Yotsumoto S, Takahashi M, Nakamura K, Kanzaki T, Kaneko F (2004). "A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia". Dermatology. 207 (2): 178–81. doi:10.1159/000071790. PMID 12920369. S2CID 12792023.

External links

  • GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia
  • v
  • t
  • e
  • 1rj7: Crystal structure of EDA-A1
    1rj7: Crystal structure of EDA-A1
  • 1rj8: The crystal structure of TNF family member EDA-A2
    1rj8: The crystal structure of TNF family member EDA-A2
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