|EDAR_HUMAN » Tumor necrosis factor receptor superfamily member EDAR » Anhidrotic ectodysplasin receptor 1;Downless homolog;EDA-A1 receptor;Ectodermal dysplasia receptor;Ectodysplasin-A receptor;|
|Hydrophobic Thickness||35.2 ± 1.4 Å|
|Tilt Angle||38 ± 0°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||184-212 (183-214)|
|UniProt annotation for EDAR_HUMAN » Tumor necrosis factor receptor superfamily member EDAR|
|FUNCTION: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. SUBUNIT: Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK. TISSUE SPECIFICITY: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines. DEVELOPMENTAL STAGE: Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15 weeks after gestation. DISEASE: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) OMIM: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. mutations affecting the gene represented in this entry. DISEASE: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) OMIM: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Note=The disease is caused by mutations affecting the gene represented in this entry.|
|UniProt features for EDAR_HUMAN » Tumor necrosis factor receptor superfamily member EDAR|
SIGNAL 1 26 |
CHAIN 27 448 Tumor necrosis factor receptor superfamily member EDAR.
REPEAT 30 71 TNFR-Cys 1.
REPEAT 73 113 TNFR-Cys 2.
REPEAT 115 148 TNFR-Cys 3.
DOMAIN 358 431 Death.
DISULFID 31 44 By similarity.
DISULFID 47 60 By similarity.
DISULFID 50 71 By similarity.
DISULFID 74 87 By similarity.
DISULFID 93 113 By similarity.
DISULFID 135 148 By similarity.
|Amino Acid Sequence for EDAR_HUMAN » Tumor necrosis factor receptor superfamily member EDAR|
|MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC GPGEEPYLSC GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT VLTPGDMEND AECGPCLPGY YMLENRPRNI YGMVCYSCLL APPNTKECVG ATSGASANFP GTSGSSTLSP FQHAHKELSG QGHLATALII AMSTIFIMAI AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK EAPDNVVMFS EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF DCLEKTSRML SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR ISTAGYSIPE LLTKLVQIER LDAVESLCAD ILEWAGVVPP ASQPHAAS|