Format

Send to:

Choose Destination

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

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

Summary

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

Genomic context

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

Expression

  • 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

General gene information

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

Preferred Names
death domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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_001136536.4NP_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:513599
    Death_PIDD; Death Domain of p53-induced protein with a death domain
  2. NM_001170700.2NP_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:678764
    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_017008192.1XP_016863681.1  death domain-containing protein 1 isoform X6

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

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

    Conserved Domains (1) summary
    cd08779
    Location:812898
    Death_PIDD; Death Domain of p53-induced protein with a death domain
  4. XM_017008191.1XP_016863680.1  death domain-containing protein 1 isoform X4

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

    Conserved Domains (1) summary
    cd08779
    Location:791877
    Death_PIDD; Death Domain of p53-induced protein with a death domain
  6. XM_006714014.3XP_006714077.1  death domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PR94
    Related
    ENSP00000492542.1, ENST00000639862.1
    Conserved Domains (1) summary
    cd08779
    Location:803889
    Death_PIDD; Death Domain of p53-induced protein with a death domain
  7. XM_011513695.2XP_011511997.1  death domain-containing protein 1 isoform X5

    Conserved Domains (1) summary
    cd08779
    Location:749835
    Death_PIDD; Death Domain of p53-induced protein with a death domain
  8. XM_011513696.2XP_011511998.1  death domain-containing protein 1 isoform X7

    Conserved Domains (1) summary
    cd08779
    Location:522608
    Death_PIDD; Death Domain of p53-induced protein with a death domain

RNA

  1. XR_001741217.1 RNA Sequence

Support Center