|EDA_HUMAN » Ectodysplasin-A » Ectodermal dysplasia protein;EDA protein;|
|Hydrophobic Thickness||34.4 ± 1.4 Å|
|Tilt Angle||20 ± 15°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||39-64 (39-71)|
|PDB||1rj8 (A/B...=230-389), 1rj7 (A/B...=233-391)|
GIMA5, Complex: EDA:GIMA5
PPLA, Complex: EDA:PPLA
|UniProt annotation for EDA_HUMAN » Ectodysplasin-A|
|FUNCTION: Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR. SUBUNIT: Homotrimer. The homotrimers may then dimerize and form higher-order oligomers. TISSUE SPECIFICITY: Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord. DISEASE: Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) OMIM: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. mutations affecting the gene represented in this entry. DISEASE: Tooth agenesis selective X-linked 1 (STHAGX1) OMIM: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Note=The disease is caused by mutations affecting the gene represented in this entry.|
|UniProt features for EDA_HUMAN » Ectodysplasin-A|
CHAIN 1 391 Ectodysplasin-A, membrane form. |
CHAIN 160 391 Ectodysplasin-A, secreted form.
DOMAIN 180 229 Collagen-like.
SITE 159 160 Cleavage; by furin.
|Amino Acid Sequence for EDA_HUMAN » Ectodysplasin-A|
|MGYPEVERRE LLPAAAPRER GSQGCGCGGA PARAGEGNSC LLFLGFFGLS LALHLLTLCC YLELRSELRR ERGAESRLGG SGTPGTSGTL SSLGGLDPDS PITSHLGQPS PKQQPLEPGE AALHSDSQDG HQMALLNFFF PDEKPYSEEE SRRVRRNKRS KSNEGADGPV KNKKKGKKAG PPGPNGPPGP PGPPGPQGPP GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK AGTRENQPAV VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG VCLLKARQKI AVKMVHADIS INMSKHTTFF GAIRLGEAPA S|