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    DTHD1 death domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 401124, updated on 9-Dec-2024

    Summary

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    Official Symbol
    DTHD1provided by HGNC
    Official Full Name
    death domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:37261
    See related
    Ensembl:ENSG00000197057 MIM:616979; AllianceGenome:HGNC:37261
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Biased expression in lung (RPKM 2.2), lymph node (RPKM 1.8) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DTHD1 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (36281616..36347511)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (36250598..36316504)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (36283238..36349133)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21406 Neighboring gene LIM zinc finger domain containing 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15345 Neighboring gene uncharacterized LOC439933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21409 Neighboring gene uncharacterized LOC105374399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21410 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:36395769-36396968 Neighboring gene microRNA 1255b-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Abu-Safieh L, et al. Genome Res, 2013 Feb. PMID 23105016, Free PMC Article
    2. The death domain superfamily in intracellular signaling of apoptosis and inflammation. Park HH, et al. Annu Rev Immunol, 2007. PMID 17201679, Free PMC Article
    3. An indel polymorphism within pre-miR3131 confers risk for hepatocellular carcinoma. Wang C, et al. Carcinogenesis, 2017 Feb 1. PMID 28034876
    4. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. Adam MP, et al. , 1993. PMID 30285347
    5. STING-Mediated IFI16 Degradation Negatively Controls Type I Interferon Production. Li D, et al. Cell Rep, 2019 Oct 29. PMID 31665637

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16686, FLJ37365

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    death domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032962.2 RefSeqGene

      Range
      5002..70897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136536.5 → NP_001130008.2  death domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC104078, AK131492, AK304357, AK316523, BC157885, DC417013
      UniProtKB/Swiss-Prot
      Q6ZMT9
      Related
      ENSP00000350103.3, ENST00000357504.7
      Conserved Domains (1) summary
      cd08779
      Location:513 → 599
      Death_PIDD; Death Domain of p53-induced protein with a death domain

    2. NM_001170700.3 → NP_001164171.2  death domain-containing protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC104078, AK131492, AK304357, AK316523, BC157885
      Consensus CDS
      CCDS54754.2
      UniProtKB/TrEMBL
      A0A1W2PR94, D6RB49
      Related
      ENSP00000492542.1, ENST00000639862.2

    3. NM_001378435.1 → NP_001365364.1  death domain-containing protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC104078

    RNA

    1. NR_160267.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC104078

    2. NR_165630.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC104078

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      36281616..36347511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513693.3 → XP_011511995.1  death domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RB49
      Conserved Domains (1) summary
      cd08779
      Location:812 → 898
      Death_PIDD; Death Domain of p53-induced protein with a death domain

    2. XM_011513695.3 → XP_011511997.1  death domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      D6RB49
      Conserved Domains (1) summary
      cd08779
      Location:749 → 835
      Death_PIDD; Death Domain of p53-induced protein with a death domain

    3. XM_011513694.3 → XP_011511996.1  death domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      D6RB49
      Conserved Domains (1) summary
      cd08779
      Location:791 → 877
      Death_PIDD; Death Domain of p53-induced protein with a death domain

    4. XM_011513696.3 → XP_011511998.1  death domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      cd08779
      Location:522 → 608
      Death_PIDD; Death Domain of p53-induced protein with a death domain

    5. XM_047415676.1 → XP_047271632.1  death domain-containing protein 1 isoform X5

    RNA

    1. XR_007057923.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      36250598..36316504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349986.1 → XP_054205961.1  death domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RB49

    2. XM_054349988.1 → XP_054205963.1  death domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      D6RB49

    3. XM_054349987.1 → XP_054205962.1  death domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      D6RB49

    4. XM_054349989.1 → XP_054205964.1  death domain-containing protein 1 isoform X4

    5. XM_054349990.1 → XP_054205965.1  death domain-containing protein 1 isoform X5

    RNA

    1. XR_008486978.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZMT9.3 GenPept UniProtKB/Swiss-Prot:Q6ZMT9

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