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

Gene ID: 401124, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (36281616..36347511)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (36250598..36316504)
105.20220307 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 (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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_2023_10

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

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

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

  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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