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

    Gene ID: 401124, updated on 3-Apr-2024

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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 Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    death domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001136536.5NP_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:513599
      Death_PIDD; Death Domain of p53-induced protein with a death domain
    2. NM_001170700.3NP_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_001378435.1NP_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_011513693.3XP_011511995.1  death domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RB49
      Conserved Domains (1) summary
      cd08779
      Location:812898
      Death_PIDD; Death Domain of p53-induced protein with a death domain
    2. XM_011513695.3XP_011511997.1  death domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      D6RB49
      Conserved Domains (1) summary
      cd08779
      Location:749835
      Death_PIDD; Death Domain of p53-induced protein with a death domain
    3. XM_011513694.3XP_011511996.1  death domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      D6RB49
      Conserved Domains (1) summary
      cd08779
      Location:791877
      Death_PIDD; Death Domain of p53-induced protein with a death domain
    4. XM_011513696.3XP_011511998.1  death domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      cd08779
      Location:522608
      Death_PIDD; Death Domain of p53-induced protein with a death domain
    5. XM_047415676.1XP_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_054349986.1XP_054205961.1  death domain-containing protein 1 isoform X1

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

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

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

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

    RNA

    1. XR_008486978.1 RNA Sequence