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    TRABD TraB domain containing [ Homo sapiens (human) ]

    Gene ID: 80305, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TRABDprovided by HGNC
    Official Full Name
    TraB domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:28805
    See related
    Ensembl:ENSG00000170638 AllianceGenome:HGNC:28805
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LP6054; PP2447
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.6), spleen (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRABD in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50185913..50199595)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50692650..50706355)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50624342..50638024)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Mov10 like RNA helicase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19297 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50578307-50578491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50604117-50604668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50609993-50610685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50622054-50622629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13952 Neighboring gene pannexin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50628084-50628698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50628699-50629313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50644205-50644771 Neighboring gene TRABD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50644772-50645337 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50645905-50646469 Neighboring gene SELENOO antisense RNA 1 Neighboring gene selenoprotein O Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50658024-50658666 Neighboring gene tubulin gamma complex component 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50676935-50677436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50677437-50677936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50682041-50682971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19309

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. STAT3-induced HLA-F-AS1 promotes cell proliferation and stemness characteristics in triple negative breast cancer cells by upregulating TRABD. Wu D, et al. Bioorg Chem, 2021 Apr. PMID 33618253
    2. Integrative identification of Epstein-Barr virus-associated mutations and epigenetic alterations in gastric cancer. Liang Q, et al. Gastroenterology, 2014 Dec. PMID 25173755
    3. TRABD modulates mitochondrial homeostasis and tissue integrity. Zhou C, et al. Cell Rep, 2024 Jun 25. PMID 38843396
    4. Characterization of long cDNA clones from human adult spleen. Hattori A, et al. DNA Res, 2000 Dec 31. PMID 11214971
    5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. Collins JE, et al. Genome Res, 2003 Jan. PMID 12529303, Free PMC Article

    See all (52) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    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

    • MGC110928

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrion-mitochondrion outer membrane tether activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    traB domain-containing protein

    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.

    mRNA and Protein(s)

    1. NM_001320484.2 → NP_001307413.1  traB domain-containing protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL449244, BU902575, CF272467
      UniProtKB/Swiss-Prot
      Q9H4I3
      Conserved Domains (1) summary
      cl12050
      Location:62 → 279
      TraB; TraB family

    2. NM_001320485.2 → NP_001307414.1  traB domain-containing protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL449244, BU902575
      Consensus CDS
      CCDS14086.1
      UniProtKB/Swiss-Prot
      Q19CC5, Q96ED8, Q9H4I3, Q9H7N1, Q9UGX6, Q9UGX7
      Related
      ENSP00000370295.4, ENST00000380909.9
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    3. NM_001320487.2 → NP_001307416.1  traB domain-containing protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL449244, HY033228
      Consensus CDS
      CCDS14086.1
      UniProtKB/Swiss-Prot
      Q19CC5, Q96ED8, Q9H4I3, Q9H7N1, Q9UGX6, Q9UGX7
      Related
      ENSP00000379171.1, ENST00000395827.5
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    4. NM_001320488.2 → NP_001307417.1  traB domain-containing protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate in-frame splice junction, and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) lacks an alternate internal segment and has a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL022328, AL449244, BI907868, BX389277, BX417817, HY033228
      Consensus CDS
      CCDS82724.1
      UniProtKB/TrEMBL
      J3KPT4
      Related
      ENSP00000379173.1, ENST00000395829.1
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    5. NM_001378762.1 → NP_001365691.1  traB domain-containing protein isoform b

      Status: VALIDATED

      Source sequence(s)
      AL022328
      Consensus CDS
      CCDS14086.1
      UniProtKB/Swiss-Prot
      Q19CC5, Q96ED8, Q9H4I3, Q9H7N1, Q9UGX6, Q9UGX7
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    6. NM_001378765.1 → NP_001365694.1  traB domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AL022328
      Consensus CDS
      CCDS82724.1
      UniProtKB/TrEMBL
      J3KPT4
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    7. NM_025204.4 → NP_079480.2  traB domain-containing protein isoform b

      See identical proteins and their annotated locations for NP_079480.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL449244, BU902575
      Consensus CDS
      CCDS14086.1
      UniProtKB/Swiss-Prot
      Q19CC5, Q96ED8, Q9H4I3, Q9H7N1, Q9UGX6, Q9UGX7
      Related
      ENSP00000305664.4, ENST00000303434.8
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    RNA

    1. NR_135275.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL022328, AL449244, BU902575, BX425224

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50185913..50199595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530718.3 → XP_011529020.1  traB domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_011529020.1

      Conserved Domains (1) summary
      cd14726
      Location:75 → 277
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    2. XM_047441500.1 → XP_047297456.1  traB domain-containing protein isoform X7

      UniProtKB/Swiss-Prot
      Q19CC5, Q96ED8, Q9H4I3, Q9H7N1, Q9UGX6, Q9UGX7

    3. XM_011530717.3 → XP_011529019.1  traB domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_011529019.1

      Conserved Domains (1) summary
      cd14726
      Location:75 → 277
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    4. XM_047441501.1 → XP_047297457.1  traB domain-containing protein isoform X5

    5. XM_011530716.3 → XP_011529018.1  traB domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_011529018.1

      Conserved Domains (1) summary
      cd14726
      Location:75 → 277
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    6. XM_006724423.4 → XP_006724486.1  traB domain-containing protein isoform X6

      See identical proteins and their annotated locations for XP_006724486.1

      UniProtKB/TrEMBL
      J3KPT4
      Conserved Domains (1) summary
      cd14726
      Location:75 → 273
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    7. XM_017028943.2 → XP_016884432.1  traB domain-containing protein isoform X1

      Conserved Domains (1) summary
      cd14726
      Location:75 → 277
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    8. XM_011530713.4 → XP_011529015.2  traB domain-containing protein isoform X2

      Conserved Domains (1) summary
      cl12050
      Location:62 → 279
      TraB; TraB family

    9. XM_011530712.3 → XP_011529014.2  traB domain-containing protein isoform X1

      Conserved Domains (1) summary
      cd14726
      Location:75 → 277
      TraB_PrgY-like; TraB/PryY confer plasmid-borne pheromone resistance

    10. XM_047441498.1 → XP_047297454.1  traB domain-containing protein isoform X4

    11. XM_011530715.3 → XP_011529017.2  traB domain-containing protein isoform X3

    12. XM_047441499.1 → XP_047297455.1  traB domain-containing protein isoform X5

    13. XM_047441503.1 → XP_047297459.1  traB domain-containing protein isoform X9

    14. XM_047441502.1 → XP_047297458.1  traB domain-containing protein isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50692650..50706355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325936.1 → XP_054181911.1  traB domain-containing protein isoform X1

    2. XM_054325939.1 → XP_054181914.1  traB domain-containing protein isoform X7

      UniProtKB/Swiss-Prot
      Q19CC5, Q96ED8, Q9H4I3, Q9H7N1, Q9UGX6, Q9UGX7

    3. XM_054325937.1 → XP_054181912.1  traB domain-containing protein isoform X1

    4. XM_054325940.1 → XP_054181915.1  traB domain-containing protein isoform X5

    5. XM_054325935.1 → XP_054181910.1  traB domain-containing protein isoform X1

    6. XM_054325938.1 → XP_054181913.1  traB domain-containing protein isoform X6

      UniProtKB/TrEMBL
      J3KPT4

    7. XM_054325931.1 → XP_054181906.1  traB domain-containing protein isoform X2

    8. XM_054325930.1 → XP_054181905.1  traB domain-containing protein isoform X1

    9. XM_054325933.1 → XP_054181908.1  traB domain-containing protein isoform X4

    10. XM_054325932.1 → XP_054181907.1  traB domain-containing protein isoform X3

    11. XM_054325934.1 → XP_054181909.1  traB domain-containing protein isoform X5

    12. XM_054325942.1 → XP_054181917.1  traB domain-containing protein isoform X9

    13. XM_054325941.1 → XP_054181916.1  traB domain-containing protein isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4I3.1 GenPept UniProtKB/Swiss-Prot:Q9H4I3

    Gene LinkOut

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