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

Gene ID: 401124, updated on 8-Oct-2018

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; Vega:OTTHUMG00000160371
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

Genomic context

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See DTHD1 in Genome Data Viewer
Location:
4p14
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (36281593..36347511)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (36283237..36346407)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 Neighboring gene LIM zinc finger domain containing 2 pseudogene Neighboring gene uncharacterized LOC439933 Neighboring gene uncharacterized LOC105374399 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 Jun 15 11:32:44 2016

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 Kumaran N, et al. , 1993. PMID 30285347
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. 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.
    Title: An indel polymorphism within pre-miR3131 confers risk for hepatocellular carcinoma.
Submit: New GeneRIF Correction

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

General gene information

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Markers

Homology

Clone Names

  • FLJ16686, FLJ37365

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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_032962.1 RefSeqGene

    Range
    7408..68171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136536.4 → 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, OTTHUMP00000218099, ENST00000357504.7, OTTHUMT00000360377
    Conserved Domains (1) summary
    cd08779
    Location:513 → 599
    Death_PIDD; Death Domain of p53-induced protein with a death domain

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

    See identical proteins and their annotated locations for NP_001164171.1

    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
    CCDS54754.1
    UniProtKB/Swiss-Prot
    Q6ZMT9
    Related
    ENSP00000401597.2, ENST00000456874.3
    Conserved Domains (1) summary
    cd08779
    Location:678 → 764
    Death_PIDD; Death Domain of p53-induced protein with a death domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    36281593..36347511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008192.1 → XP_016863681.1  death domain-containing protein 1 isoform X6

  2. XM_017008193.1 → XP_016863682.1  death domain-containing protein 1 isoform X8

  3. XM_011513693.2 → XP_011511995.1  death domain-containing protein 1 isoform X1

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

  4. XM_017008191.1 → XP_016863680.1  death domain-containing protein 1 isoform X4

  5. XM_011513694.2 → XP_011511996.1  death domain-containing protein 1 isoform X3

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

  6. XM_006714014.3 → XP_006714077.1  death domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PR94
    Related
    ENSP00000492542.1, ENST00000639862.1
    Conserved Domains (1) summary
    cd08779
    Location:803 → 889
    Death_PIDD; Death Domain of p53-induced protein with a death domain

  7. XM_011513695.2 → XP_011511997.1  death domain-containing protein 1 isoform X5

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

  8. XM_011513696.2 → XP_011511998.1  death domain-containing protein 1 isoform X7

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

RNA

  1. XR_001741217.1 RNA Sequence

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

Gene LinkOut

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