LOCUS       NM_145861               3088 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens EDAR associated via death domain (EDARADD), transcript
            variant A, mRNA.
ACCESSION   NM_145861
VERSION     NM_145861.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3088)
  AUTHORS   Yang,J., Liao,Y., Wang,B., Cui,L., Yu,X., Wu,F., Zhang,Y., Liu,R.
            and Yao,Y.
  TITLE     EDARADD promotes colon cancer progression by suppressing E3 ligase
            Trim21-mediated ubiquitination and degradation of Snail
  JOURNAL   Cancer Lett 577, 216427 (2023)
   PUBMED   37838280
  REMARK    GeneRIF: EDARADD promotes colon cancer progression by suppressing
            E3 ligase Trim21-mediated ubiquitination and degradation of Snail.
REFERENCE   2  (bases 1 to 3088)
  AUTHORS   Rencuzogullari,E. and Ezer,B.G.
  TITLE     A new variant of the ectodysplasin A receptor death domain gene
            associated with anhidrotic ectodermal dysplasia in a Turkish family
            and its simple diagnosis by restriction fragment length
            polymorphism
  JOURNAL   Genes Genet Syst 98 (4), 171-178 (2023)
   PUBMED   37673591
  REMARK    GeneRIF: A new variant of the ectodysplasin A receptor death domain
            gene associated with anhidrotic ectodermal dysplasia in a Turkish
            family and its simple diagnosis by restriction fragment length
            polymorphism.
REFERENCE   3  (bases 1 to 3088)
  AUTHORS   Fang,Z., Yang,X., Wei,X., Yang,Y., Yi,C. and Song,D.
  TITLE     EDARADD silencing suppresses the proliferation and migration of
            bladder cancer cells
  JOURNAL   Urol Oncol 40 (8), 382 (2022)
   PUBMED   35637063
  REMARK    GeneRIF: EDARADD silencing suppresses the proliferation and
            migration of bladder cancer cells.
REFERENCE   4  (bases 1 to 3088)
  AUTHORS   Asano,N., Yasuno,S., Hayashi,R. and Shimomura,Y.
  TITLE     Characterization of EDARADD gene mutations responsible for
            hypohidrotic ectodermal dysplasia
  JOURNAL   J Dermatol 48 (10), 1533-1541 (2021)
   PUBMED   34219261
  REMARK    GeneRIF: Characterization of EDARADD gene mutations responsible for
            hypohidrotic ectodermal dysplasia.
REFERENCE   5  (bases 1 to 3088)
  AUTHORS   Ahmed,H.A., El-Kamah,G.Y., Rabie,E., Mostafa,M.I., Abouzaid,M.R.,
            Hassib,N.F., Mehrez,M.I., Abdel-Kader,M.A., Mohsen,Y.H., Zada,S.K.,
            Amr,K.S. and Sayed,I.S.M.
  TITLE     Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA,
            EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal
            Dysplasia: A Report of Seven Novel Mutations
  JOURNAL   Genes (Basel) 12 (9), 1389 (2021)
   PUBMED   34573371
  REMARK    GeneRIF: Gene Mutations of the Three Ectodysplasin Pathway Key
            Players (EDA, EDAR, and EDARADD) Account for More than 60% of
            Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3088)
  AUTHORS   Yan,M., Zhang,Z., Brady,J.R., Schilbach,S., Fairbrother,W.J. and
            Dixit,V.M.
  TITLE     Identification of a novel death domain-containing adaptor molecule
            for ectodysplasin-A receptor that is mutated in crinkled mice
  JOURNAL   Curr Biol 12 (5), 409-413 (2002)
   PUBMED   11882293
  REMARK    GeneRIF: crinkled binds EDAR through a homotypic death domain
            interaction and mediates engagement of the NF-kappaB pathway,
            possibly by recruiting TRAF2 to the receptor-signaling complex
REFERENCE   7  (bases 1 to 3088)
  AUTHORS   Headon,D.J., Emmal,S.A., Ferguson,B.M., Tucker,A.S., Justice,M.J.,
            Sharpe,P.T., Zonana,J. and Overbeek,P.A.
  TITLE     Gene defect in ectodermal dysplasia implicates a death domain
            adapter in development
  JOURNAL   Nature 414 (6866), 913-916 (2001)
   PUBMED   11780064
  REMARK    GeneRIF: interacts with the death domain of Edar and links the
            receptor to downstream signalling pathways
REFERENCE   8  (bases 1 to 3088)
  AUTHORS   Kumar,A., Eby,M.T., Sinha,S., Jasmin,A. and Chaudhary,P.M.
  TITLE     The ectodermal dysplasia receptor activates the nuclear
            factor-kappaB, JNK, and cell death pathways and binds to
            ectodysplasin A
  JOURNAL   J Biol Chem 276 (4), 2668-2677 (2001)
   PUBMED   11035039
REFERENCE   9  (bases 1 to 3088)
  AUTHORS   Munoz,F., Lestringant,G., Sybert,V., Frydman,M., Alswaini,A.,
            Frossard,P.M., Jorgenson,R. and Zonana,J.
  TITLE     Definitive evidence for an autosomal recessive form of hypohidrotic
            ectodermal dysplasia clinically indistinguishable from the more
            common X-linked disorder
  JOURNAL   Am J Hum Genet 61 (1), 94-100 (1997)
   PUBMED   9245989
REFERENCE   10 (bases 1 to 3088)
  AUTHORS   Wright,J.T., Grange,D.K. and Fete,M.
  TITLE     Hypohidrotic Ectodermal Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301291
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354693.6 and AL136105.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 1, 2019 this sequence version replaced NM_145861.3.
            
            Summary: This gene was identified by its association with
            ectodermal dysplasia, a genetic disorder characterized by defective
            development of hair, teeth, and eccrine sweat glands. The protein
            encoded by this gene is a death domain-containing protein, and is
            found to interact with EDAR, a death domain receptor known to be
            required for the development of hair, teeth and other ectodermal
            derivatives. This protein and EDAR are coexpressed in epithelial
            cells during the formation of hair follicles and teeth. Through its
            interaction with EDAR, this protein acts as an adaptor, and links
            the receptor to downstream signaling pathways. Two alternatively
            spliced transcript variants of this gene encoding distinct isoforms
            have been reported. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.86320.1, BC114557.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334232.9/ ENSP00000335076.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-220               AL354693.6         3168-3387
            221-279             AL354693.6         18098-18156
            280-319             AL354693.6         23142-23181
            320-378             AL354693.6         36274-36332
            379-424             AL136105.9         127-172
            425-3088            AL136105.9         14163-16826
FEATURES             Location/Qualifiers
     source          1..3088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3-q43"
     gene            1..3088
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /note="EDAR associated via death domain"
                     /db_xref="GeneID:128178"
                     /db_xref="HGNC:HGNC:14341"
                     /db_xref="MIM:606603"
     exon            1..220
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..807
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /note="isoform A is encoded by transcript variant A;
                     EDAR-associated death domain protein; crinkled homolog;
                     ectodysplasia A receptor associated death domain;
                     ectodysplasin-A receptor-associated adapter protein; EDAR
                     associated death domain"
                     /codon_start=1
                     /product="ectodysplasin-A receptor-associated adapter
                     protein isoform A"
                     /protein_id="NP_665860.2"
                     /db_xref="CCDS:CCDS1610.1"
                     /db_xref="GeneID:128178"
                     /db_xref="HGNC:HGNC:14341"
                     /db_xref="MIM:606603"
                     /translation="MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKY
                     PIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTC
                     SSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRP
                     QSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF"
     exon            221..279
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /inference="alignment:Splign:2.1.0"
     exon            280..319
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /inference="alignment:Splign:2.1.0"
     exon            320..378
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /inference="alignment:Splign:2.1.0"
     exon            379..424
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /inference="alignment:Splign:2.1.0"
     exon            425..3088
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1560..1565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /note="hexamer: AAGAAA"
     polyA_site      1580
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /note="major polyA site"
     polyA_site      2043
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
     regulatory      3066..3071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
                     /note="hexamer: AAGAAA"
     polyA_site      3088
                     /gene="EDARADD"
                     /gene_synonym="CR; ECTD11A; ECTD11B; ED3; EDA3"
ORIGIN      
        1 agaccaagag gaagtttatc ctcccaccta caaattcccc agagagcttt catctagaag
       61 gtttgactct ggccagacaa ccagcgagca tcttctcgca atctgttgct tcttccatgg
      121 caaactccag agaattaaga agccaaactc aacatcgcca tgggcctcag gacgactaaa
      181 cagatgggga gaggcactaa agctcctggt caccaagagg atcatatggt aaaggaacca
      241 gtggaagaca cagaccctag cactttatcc tttaatatgt cagacaaata tcccattcaa
      301 gatacggaac tccctaaagc tgaagaatgt gatacaatta ctttgaactg cccacgaaat
      361 tcagatatga aaaatcaggg agaagaaaat ggctttccag atagcactgg agatcctctt
      421 ccagagatca gcaaggacaa ctcctgcaaa gaaaactgta cttgttcctc ctgcttgctc
      481 cgggccccca ccataagtga cttgctcaat gatcaggact tactagacgt gatcaggata
      541 aagctggatc cgtgtcaccc aacggtgaaa aactggagga attttgcaag caaatggggg
      601 atgtcctatg acgaattgtg cttcctggag cagaggccac agagccccac cttggagttc
      661 ttgctccgga acagtcagag gacggtgggc cagctgatgg agctctgcag gctctaccac
      721 agggccgacg tggagaaggt tctgcgcagg tgggtggacg aggagtggcc caagcgggag
      781 cgtggagacc cctccaggca cttctagagc tcttcttctt ccttcattgg cctctccgga
      841 tgttgaaaca accacaggtc aagaaggaat gtgaatctgt tgttttataa gagtttagga
      901 caaggacgtg gaacagtgga cactggtttt ccccaaagct ggcagttttg tggaggggta
      961 gcttgtttcg gtggtggatc tctgtttatt tttgcacatc tgttataatt taatattcaa
     1021 atctggaatt aagaaaacat attttctagt atcctctaag ggccaaagtc ctacaatcgg
     1081 aatggattca tgccacgttg aagataaaat tatcctctct ctgaaatacg gtaaagattt
     1141 aaataggtcc tgagactgtt gatagcccca gacataccca cagcattata tgtaacatct
     1201 ctcctgatca gtgccattcc cacggtttca aagaaaacag ctacaaggaa tgcttacctg
     1261 agtgtctgca gcaccctcca cttctctcct aggcaatgag acccagtggc tagaaattca
     1321 ccatgtctat tctcaagatc catgccaggg agctctttga ctctcgtggg aatcccactg
     1381 ttgaggttga tctcttcacc tcagaaggtc tcttcagagc tgctgtgccc agtggtgctt
     1441 caactggtat ctatgaggtc ctagagctcc aggacaatga taagactcgc tatatgggga
     1501 agggtgtctc aaagcctgtt gagcccatca ataaaactat tgcacctgtc ctggttagca
     1561 agaaactgaa cgtcacagaa caagagaaga ttgacaaact tatgatagag atggatggaa
     1621 cagaaaataa atctaaattt ggtgcaaatg ccattctggg agtgtccctc gctgcctgca
     1681 aagctagtgc tgttgagaag ggggttcccc tgtaccacca catcgccgac ttgtctggca
     1741 actccaaagt catcttgcca gtcccggtgt tcaatgtcat caatggcagt tctcatgctg
     1801 tcaccaagct ggccatgcag gagttcatgg tcctcccagt cggtgcagca aacttcaggg
     1861 aagccatgcc cattggagcg gaggtttacc acagcctgaa gaatgtcatc aaggagaaat
     1921 atgggaaaga tgccaccggt gtgggggatg gaggcgcgtt tgctcccaac atcctggaga
     1981 ataaagaagg cctggagctg ctgaagactg cgattgggaa agctggctac actgataagg
     2041 tgatcgtcag catggacgta gaggcctccg agttcttcag gtctggaaag tatgacctgg
     2101 aattcaagtt tctcgacgac cccaccaggt acatctcacc tgactgtctg gctgacctgt
     2161 acaagtcctt catcaaaaac tacccagtgg tgtctactga agatcccttt gaccaggatg
     2221 actggggagc ttggcagaag ttcacggcca gtgcaggaat ccaggtagtg gaggatgatc
     2281 tcagagtgac caacccaaag aggacagcct cggccgtgaa tgagaagaag tgcaactgcc
     2341 tcctgctcaa agtgaaccag attcgctctg tgactgagtc ccttcaggcg tgcaagctgg
     2401 cccaggccaa tggttggtgt gtcatggtgc ctcatcattc tggggagact gaaaatacct
     2461 tcatcactga cctggtggtg gggctgtgac ctgggcagct caagactggt gccccttgct
     2521 gatctgagcg cttggccaag tacaaccagc tcctcagaat tgaagaggag ctgggcagca
     2581 aggctaagtt tgccggcagg aacttcagaa accccccagc caagtaagct gtgggcaggc
     2641 aagcccttca gtcacctggt ggctaattag acccctcccc ttgtgtcaac tccggcagct
     2701 caagaccccc gagcaacatt tgtaggggcc gctgctagtt agctaccctt gcccaccgcc
     2761 gtggagttcg cacctcttcc ttagaacttc tacagaagca ggttgcagtg agccgagatt
     2821 gcgccactgc acaccagtct ggagacagag tgagagtccg tcccagaaaa aaaaaaaaaa
     2881 aaaaagaact tctacagaag ccaagctccc tggagccctg ttggcagctc tagccttgca
     2941 gtcatgtaat tggcccaaat caccggagcc acgtgaccct ccagtgtcat ctccggggtg
     3001 gccacaggca agatccccag tgattttgtg ctcaaaataa aaagcctcat tgacccatga
     3061 gaaaaaagaa aacagcaatg agaagtga
//
