LOCUS       NM_001170700            6551 bp    mRNA    linear   PRI 29-OCT-2022
DEFINITION  Homo sapiens death domain containing 1 (DTHD1), transcript variant
            1, mRNA.
ACCESSION   NM_001170700 XM_006714014
VERSION     NM_001170700.3
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 6551)
  AUTHORS   Wang C, Li L, Yin Z, Zhang Q, Zhao H, Tao R, Wang S, Hu S, He Y,
            Wang D, Li C, Zhang S, Xu J, Jiang X, Zhu S and Gao Y.
  TITLE     An indel polymorphism within pre-miR3131 confers risk for
            hepatocellular carcinoma
  JOURNAL   Carcinogenesis 38 (2), 168-176 (2017)
   PUBMED   28034876
  REMARK    GeneRIF: human genome-wide gene expression profile assay was used
            to screen the targets of miR-3131. The overexpressed miR-3131 could
            lead to a significant decrease of DTHD1 and XAF1 mRNA level.
REFERENCE   2  (bases 1 to 6551)
  AUTHORS   Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M,
            Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A,
            Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S,
            Alkharashi A, Abboud E, Al-Hazzaa SA and Alkuraya FS.
  TITLE     Autozygome-guided exome sequencing in retinal dystrophy patients
            reveals pathogenetic mutations and novel candidate disease genes
  JOURNAL   Genome Res 23 (2), 236-247 (2013)
   PUBMED   23105016
REFERENCE   3  (bases 1 to 6551)
  AUTHORS   Park HH, Lo YC, Lin SC, Wang L, Yang JK and Wu H.
  TITLE     The death domain superfamily in intracellular signaling of
            apoptosis and inflammation
  JOURNAL   Annu Rev Immunol 25, 561-586 (2007)
   PUBMED   17201679
  REMARK    Review article
REFERENCE   4  (bases 1 to 6551)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   30285347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104078.3, BC157885.1,
            AK131492.1, AK304357.1 and AK316523.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Dec 8, 2018 this sequence version replaced
            XM_006714014.3, NM_001170700.2.
            
            Summary: This gene encodes a protein which contains a death domain.
            Death domain-containing proteins function in signaling pathways and
            formation of signaling complexes, as well as the apoptosis pathway.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000639862.2/ ENSP00000492542.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-414               AC104078.3         64396-64809
            415-460             AC104078.3         66756-66801
            461-1053            BC157885.1         1-593
            1054-2172           AK131492.1         432-1550
            2173-2906           BC157885.1         1713-2446
            2907-2930           AK304357.1         2278-2301
            2931-2931           AC104078.3         126671-126671
            2932-3086           AK304357.1         2303-2457
            3087-3087           AC104078.3         126827-126827
            3088-3825           AK316523.1         2459-3196
            3826-6551           AC104078.3         127566-130291
FEATURES             Location/Qualifiers
     source          1..6551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     gene            1..6551
                     /gene="DTHD1"
                     /note="death domain containing 1"
                     /db_xref="GeneID:401124"
                     /db_xref="HGNC:HGNC:37261"
                     /db_xref="MIM:616979"
     exon            1..414
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..2864
                     /gene="DTHD1"
                     /note="isoform 1 is encoded by transcript variant 1; death
                     domain-containing protein 1"
                     /codon_start=1
                     /product="death domain-containing protein 1 isoform 1"
                     /protein_id="NP_001164171.2"
                     /db_xref="CCDS:CCDS54754.2"
                     /db_xref="GeneID:401124"
                     /db_xref="HGNC:HGNC:37261"
                     /db_xref="MIM:616979"
                     /translation="MDMEYMGSGKLGQILKQIWRQNQMLKQALLGDDLCEGAGGATWM
                     ATVVFLGQELSSALHQLLEHTSGTLRSTCQQLHVLLDKENQCVSRKEIITFIDCLIKI
                     TEHLGSTAALLKKEEKEICNLCGMHDECTPQQTMSSIQDTKAADIAARGELNVIETAT
                     VSPTNGEESHYTNQVQLEKNKTHMSSALVEKENNTSLNGRVLGQEESQNKMFPDNAEN
                     EDDKQIEHMTVENINGNREETHGIIQTTETEIQETSESPREEMTTSSIICDISKKYIN
                     STLPNDSENIKHKNNIMEKEYLDVLSDVTGPQVSCYITAPSYVLQQLECRIINHMSSL
                     IVGDNEELVSNVITIECSDKEKRVPFPIGIAIPFTARYRGNYRDIMVKVCDINLQSSY
                     LNPNSLEGMKGGYKGTCASVKVYKLGIFSVVSCLKKESFTVTKKGLALKSSMDSRISL
                     NYPPGVFTSPVLVQLKIQPVDPALVAHLKAQQDTFYSVQSTSPLIHIQHPSTYPFQKP
                     VTLFLPCSPYLDKNNLGSEIDHKRRASATINRITPSYFNRTKIASIRKPRKNASECLK
                     LLGFRSQDSGWCGLDDVVKTIQSGLVSVELYEHLERFIVLHLSSTMDNSHLVTFVKSL
                     EEAMLSTTACIVLSHQKDNPHRIAVLVVPSKDLSQVLKDLHLEGFGGPPEPSRHFQVR
                     EGEQLLLRFTGNIFASSNGKDYGKDYTLIFHLQRKPRLELQIKEVDEFGNYSCPHYKG
                     TIVVYKVPKGKIVPNLNQSLVINENHSQLPICKLPLKLPKHKKLINRPQSTKRVSKDP
                     VEALWDNLLHWLAEELSEENAESLSSTLPLRRSTIQLIKLKNPDDLTEQIHEFLCFWK
                     KSLPTFTDKLRLLARHLRKIGRSDLAEELKFKWENKVFTEPQQCFDVAPE"
     exon            415..1030
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1361
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1541
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1786
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..1948
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..2238
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2239..2483
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2484..2541
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2542..6551
                     /gene="DTHD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6425..6430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTHD1"
                     /note="hexamer: ATTAAA"
     polyA_site      6446
                     /gene="DTHD1"
                     /note="major polyA site"
     regulatory      6534..6539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTHD1"
                     /note="hexamer: ATTAAA"
     polyA_site      6551
                     /gene="DTHD1"
ORIGIN      
        1 accactatgt tgtgagaaag tgctgggcta gctgactcgg atcatctcct agagtttagg
       61 agaaataaca atcacaaagt ttgaatttgc aaaaccttta ggctttgctg gcaggagaga
      121 aaataccact tttggatcat aaaatggata tggaatacat gggctcaggt aaactgggcc
      181 aaatattgaa gcagatttgg agacaaaacc agatgctaaa gcaggcactc ttgggtgatg
      241 acctttgtga gggggctggt ggggccactt ggatggccac tgtggtcttt ctgggtcagg
      301 aactcagcag tgcccttcac cagctgctgg agcacacctc aggcaccctg cgttccacct
      361 gccagcagct gcatgtgctg cttgacaaag agaatcaatg tgtctcgaga aaagaaatca
      421 ttactttcat agactgcctc ataaaaataa ctgaacattt ggggagcact gctgcacttc
      481 taaagaaaga agaaaaggag atttgtaatt tatgcggcat gcatgatgaa tgtactccac
      541 agcagacaat gtcctccatt caagatacca aagcagcaga cattgctgca agaggggaac
      601 taaatgtcat agaaacagct actgtttctc ccacaaatgg agaggaaagt cattacacaa
      661 accaggtcca gttagaaaaa aataaaacac atatgagttc agcattagtg gaaaaagaaa
      721 acaatacatc actgaatgga cgtgtactgg ggcaagaaga gtcacagaat aaaatgttcc
      781 cagataatgc agaaaatgaa gatgataaac aaatagaaca catgactgtt gagaacataa
      841 atggcaacag ggaagagact catggcataa ttcagacaac agagacagaa attcaagaga
      901 cttcagaaag cccaagagaa gagatgacca catcctcaat aatatgtgat atctccaaga
      961 aatatataaa tagtactctt cccaatgatt cagagaatat aaagcacaag aataacataa
     1021 tggaaaagga gtatcttgat gtgctgagtg atgttactgg cccccaagtg tcttgttata
     1081 ttacagcacc atcatatgtt ctacaacaac tagaatgccg gataataaat cacatgagtt
     1141 ctttaatagt gggtgataat gaagagttag ttagcaacgt cataactatt gaatgctcag
     1201 ataaggaaaa gagagttcca tttccaatag gcattgcaat tccatttact gcacgttaca
     1261 gaggaaatta cagagatatc atggtgaaag tgtgtgacat aaaccttcaa tcaagttacc
     1321 taaacccaaa ttcactagaa ggaatgaagg gaggttataa ggggacctgt gcttcagtaa
     1381 aagtttacaa attgggtatc ttttctgttg tgtcttgttt aaagaaagag tcgttcacag
     1441 taacaaagaa aggcctcgct cttaagtcaa gcatggattc ccgaatatcc ttaaattacc
     1501 ctccaggagt ttttacctct ccagtgctgg tgcagttaaa gatccaacca gttgacccag
     1561 ctctggtggc acatttaaaa gcacagcaag atactttcta ctcagtccaa tccacaagcc
     1621 ctctgattca cattcagcac ccatcaactt atccttttca gaagccagtc actttgtttt
     1681 taccttgttc tccatacctt gataaaaaca accttggttc tgagatagat cataaaagaa
     1741 gagcaagtgc cacaataaat aggattacac cttcgtattt caaccggaca aaaattgcct
     1801 ccataagaaa acctaggaaa aatgccagtg aatgtttgaa attactggga ttcagaagcc
     1861 aagacagtgg ttggtgtggg cttgatgatg ttgtgaaaac catacagagc ggcttggtat
     1921 cagttgaatt gtatgaacat ttggagaggt ttattgtact tcacctctct tccaccatgg
     1981 acaatagtca tttggttact tttgtgaaat ctttagagga agccatgctc agcaccactg
     2041 cctgcatagt actgtctcac cagaaggaca atccacatag aatagctgtt ttagtggtgc
     2101 cttccaaaga tttaagccag gtgcttaagg acctgcactt ggaagggttt ggaggacctc
     2161 cagagccatc tcgtcatttc caagttcgag aaggagaaca acttctttta agatttactg
     2221 gaaacatatt tgcttcaagc aacgggaagg attatggaaa agactacaca cttatttttc
     2281 acttgcaaag aaaacctagg ctggaactcc aaatcaaaga agtggacgaa tttggaaact
     2341 atagttgccc tcattacaaa ggcaccattg tcgtttataa agtacctaaa ggaaagatag
     2401 tccccaactt gaatcaatct ctcgtaatta atgaaaacca ttctcagttg ccaatttgca
     2461 aattaccatt gaaattgcca aagcataaga aattaatcaa ccgtccacag agtaccaaaa
     2521 gagtttctaa ggatcctgta gaagcccttt gggataactt gctccattgg ctggctgagg
     2581 agctctcaga agaaaatgct gagtctcttt cctcaactct ccctctgcgc cgtagcacca
     2641 ttcagctcat caaactcaag aaccctgatg atctcacaga acagatccac gagtttcttt
     2701 gcttctggaa aaaatcgctt ccaactttca ccgacaaact tcgcctcctg gctcgacatc
     2761 tccgcaagat tggcaggagt gatcttgcag aagagctcaa attcaagtgg gaaaataaag
     2821 tgttcactga accacagcag tgttttgatg tagcccctga gtaaaagcct gatctctctt
     2881 cctttacccc taggaaaagg cacacggtgg gtttttgttt ctgtcaacat tttcctggaa
     2941 gtttccgaat gatattattt gaagtcagtc tatttaatga tgtgctattt aatgatgtga
     3001 gacaaaggga gaagcacgga tcagataata gaaagcattc ctgggtgtga gcgctcctct
     3061 ctggttgagt gattatgttt tgcaaccatg actgtcttga gtttggcctc acttaatagc
     3121 atttgcaatt gagtttgact tgttcacatt ttaaaagcta agtgtgaaga aaagatctga
     3181 tatatgtaat tacttattaa ttggtatcta cataaaatta aactagtttt ctgtgacttc
     3241 aagtgtgagc ccaaaaatat ctgagacagt tctcaatcaa tttagaaaga ttattttgcc
     3301 aaggttaagg acaggcccgt aacagcctca gaagatcctg atgacatatg cccaaggtgt
     3361 tcggggtaga gcttgctttt atgcatttta gggagttata atatatcaat caatacatgt
     3421 aaggtgtaca ttggctcaat ctggaaaggt aggacaactc aaagcagggg cttccagatc
     3481 acaggtagat ttaaagattc ttgattggca ttgattgaac agttattatc taaagacctg
     3541 gaatcaatag gaaggaaatg cctgggctat gataagaagt tatggagacc aaagttttat
     3601 aatgcagatg aagcctccag gtagcagact ttagagggaa tagattgtaa atatttctga
     3661 tcagtcctaa ggtctgttga aatttatgct ggccagcttt tcctgaattc caaaagagag
     3721 gagggtatta tggagtcatg tccaacctcc ccttcccagc atggcctaaa ctagtttttc
     3781 aggataactt tgaaatgccc ttggctgaga gaaggggctt gttcagatag ttgggagact
     3841 tagaatttta tttttggttg actcaggcaa ccaattcaag ttacatagat accatagagc
     3901 ctacagtaaa caatacaaaa taaattggac tgaaagactt gatgtcggtg gtagtaactc
     3961 actttaaaaa aacctttcta agctcgaaat aaattaaaaa tagaataaca cttcagccat
     4021 ttactggcac agacttttcc tttataaaaa tataacttgg aagagggaaa attccatatt
     4081 ttgttattag cgaaatgagg cagtgcagag aaaataagtt atcagtgaaa gaattcaagg
     4141 cctatttctt ctacttagga agaaaacctg ctttaaaatt agttaacaga agccttatta
     4201 cataagccct agatatacat cattaaaaat aaacaaaaca tctgtaaata gaacattaaa
     4261 atgaaagaaa aaattaaaac ttatctaaac ccctctttct attgataatc gctattaatg
     4321 tctagtataa gctttgagtt tttggaaagc ctaacgccct ttagctctct gaagcagttg
     4381 gatataaatg ggacattgaa ctagtttcac tgactcatta atgcaaaaac cattaggtcg
     4441 ttggcttgaa aacatcggta gcaattagtt tcagttattg aatacctagg aattaattga
     4501 gttatattac aaaattaaat gttttaatct ctttcaaatt taaacgcaag acttccttct
     4561 acaaattaac cagggattta gatatctatt caggtatata tcaaaaaagg cgattcccat
     4621 tttcaaacat agtcccataa aggaatattt tattagtcaa gattttttac atgctgccaa
     4681 aaaggtacaa tatgtatttt catgtattct tggggcaaag aaaacagact aaaatgttca
     4741 ttgttttcct gattacaatc gaacaaaaaa gtaaagaaaa tgaaagttgc ttcttatcct
     4801 gtcattagag attactatta ttaacatttt tggcataatt tcttctagtt tttctttttt
     4861 tctggaagaa aatatttcta tttctatcgg tatagatgta tctaaggaca ctcacatatg
     4921 tgttcacctg catgcacaca tgctaatatg tatgtcccat cacacacatc cctgccacac
     4981 acctctcaca aatgcaccct caaacacaca ggcctaccct ttatcagcac tgtttcgggt
     5041 ccacttgtgc acctcacata tgctgtcaca aacacacccc tcctgcacac ccagctccca
     5101 actctctcac agaaacacac ctattcacat acataaatac atgtgcacac acacacaccc
     5161 ctcacacaca tatagtttca gatccacttg tacactctca caaatgtcct cgttcacata
     5221 taccccacct ccacatttca tatacgcata cactcattaa tatgcctccc ccacagacac
     5281 atgcacacac acacacgaca tctcacttta ccgttaccac ttcacctgca catatacaat
     5341 ctcattaaaa cactccctgt cataaccctc ccgtctttct ttctctctct cacacataca
     5401 ctcacataca ttcactcaca gccacatata cacacctctt cacaacacag atacattttt
     5461 cccccagaat taaaacaaat actgcacata ttgttgttac agtaaagcaa taaaaaggta
     5521 catagagaaa acaattgatc atccctgcag catctcctct cttaagataa tccaggaaat
     5581 caatcccatg tgtaatctgt gccacttgga ttgagacctg cccctgaaca ccctcagtat
     5641 tgatagacac acccatacct ttgcataccc atttctctgt ctggtgagcc aacctgtatg
     5701 gaccacatca gagatgcctt gttcgctttt gctaatgcaa agccccagca gaagacagac
     5761 aggaggaagg agagtgaatt ataccattcc ccttttcctc cctgtgctca tcttggcctg
     5821 gctgtgtccc tggcctgcaa ccactgctcc tctcaagaag gccacctcta gccaactctc
     5881 tcctgtgctt tggtaactgg tcttcttctt gtctcttcaa gtctaagggt ggtaatagct
     5941 ctcttgttgt ttggagtaac tgtgttattc cttgcagttc ccctacatcc tgctctcccc
     6001 tttttaaaat aaagcctcct tttattattc taatttgagt atatcactat atttctcatt
     6061 gagaccctga ttgatacctc tctgcacacc tttcttatgc tcctagcaac gtatacatgt
     6121 attttatttc ccagaatggg agtcatatat tatatataca gtttttaaaa ttactgtctt
     6181 attaaattat gagtttttaa tgtcttcgaa tgttttaatg actgtataat atcctatttc
     6241 ataaccatag cacaattaat tttagtataa tcaatttctg aaattggtta aaatgaaatt
     6301 ttgcagtata tattctttta tgtttgactt tttattcaac tttatgttgc tgaaattcat
     6361 ccattttgct gtgtgtggca atggttcatt ctcattaatg tataatattc tattatatgc
     6421 atatattaaa attttcatat caattagact gtagtcccaa tatataccta agagcaaagt
     6481 gatagtttac catagttcat ttaaccgtgt tctatattca ggaccattta gcaattaaac
     6541 tttgaacatc a
//
