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    DHX37 DEAH-box helicase 37 [ Homo sapiens (human) ]

    Gene ID: 57647, updated on 20-Apr-2024

    Summary

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    Official Symbol
    DHX37provided by HGNC
    Official Full Name
    DEAH-box helicase 37provided by HGNC
    Primary source
    HGNC:HGNC:17210
    See related
    Ensembl:ENSG00000150990 MIM:617362; AllianceGenome:HGNC:17210
    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
    Also known as
    Dhr1; DDX37; SRXY11; NEDBAVC
    Summary
    This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.6), lymph node (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q24.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (124946826..124989131, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (124952035..124994326, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (125431372..125473677, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5072 Neighboring gene tRNA-Asp (anticodon GTC) 2-10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125427515-125428016 Neighboring gene tRNA-Ala (anticodon TGC) 4-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125471597-125472140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125476761-125477261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7320 Neighboring gene BRI3 binding protein Neighboring gene TNF and HNRNPL related immunoregulatory long non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5079 Neighboring gene translocase of outer mitochondrial membrane 6 homolog (yeast) pseudogene

    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. DHX37 and 46,XY DSD: A New Ribosomopathy? McElreavey K, et al. Sex Dev, 2022. PMID 35835064
    2. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Zidoune H, et al. Sex Dev, 2021. PMID 34293745
    3. DHX37 Impacts Prognosis of Hepatocellular Carcinoma and Lung Adenocarcinoma through Immune Infiltration. Xu Y, et al. J Immunol Res, 2020. PMID 33490290, Free PMC Article
    4. Integrative Expression and Prognosis Analysis of DHX37 in Human Cancers by Data Mining. Huang K, et al. Biomed Res Int, 2021. PMID 33490273, Free PMC Article
    5. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. McElreavey K, et al. Genet Med, 2020 Jan. PMID 31337883, Free PMC Article

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DHX37 and 46,XY DSD: A New Ribosomopathy?
      Title: DHX37 and 46,XY DSD: A New Ribosomopathy?
    2. RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1.
      Title: RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1.
    3. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
      Title: Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
    4. DHX37 Impacts Prognosis of Hepatocellular Carcinoma and Lung Adenocarcinoma through Immune Infiltration.
      Title: DHX37 Impacts Prognosis of Hepatocellular Carcinoma and Lung Adenocarcinoma through Immune Infiltration.
    5. Integrative Expression and Prognosis Analysis of DHX37 in Human Cancers by Data Mining.
      Title: Integrative Expression and Prognosis Analysis of DHX37 in Human Cancers by Data Mining.
    6. Results identified heterozygous missense pathogenic variants involving DHX37 gene as a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and testicular regression syndrome (TRS), showing that these conditions are part of a clinical spectrum. Some of the variants are clustered in two highly conserved functional domains.
      Title: Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
    7. In 46,XY Gonadal dysgenesis, we identified four heterozygous missense rare variants, classified as pathogenic or likely pathogenic in the Asp-Glu-Ala-His-box (DHX) helicase 37 (DHX37) gene.Two variants were recurrent: p.Arg308Gln and p.Arg674Trp. The variants were specifically associated with embryonic testicular regression syndrome. DHX37 is a player in the complex cascade of male gonadal differentiation and maintenance.
      Title: Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2695, MGC4322, FLJ41974, KIAA1517, MGC46245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables U3 snoRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of male gonad development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosome biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DHX37
    Names
    DEAD/DEAH box helicase DDX37
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 37
    DEAH (Asp-Glu-Ala-His) box polypeptide 37
    DEAH box protein 37
    NP_116045.2
    XP_005253647.1
    XP_011536900.1
    XP_011536902.1
    XP_047285174.1
    XP_054228644.1
    XP_054228645.1
    XP_054228646.1
    XP_054228647.1
    XP_054228648.1

    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.

    mRNA and Protein(s)

    1. NM_032656.4 → NP_116045.2  probable ATP-dependent RNA helicase DHX37

      See identical proteins and their annotated locations for NP_116045.2

      Status: REVIEWED

      Source sequence(s)
      AC093719, BC037964, BU633279
      Consensus CDS
      CCDS9261.1
      UniProtKB/Swiss-Prot
      Q8IY37, Q9BUI7, Q9P211
      Related
      ENSP00000311135.2, ENST00000308736.7
      Conserved Domains (6) summary
      smart00490
      Location:585 → 674
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:768 → 859
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:240 → 1016
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:271 → 411
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam07717
      Location:894 → 1011
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
      cl21455
      Location:368 → 511
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      124946826..124989131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253590.4 → XP_005253647.1  probable ATP-dependent RNA helicase DHX37 isoform X1

      UniProtKB/TrEMBL
      F5H3Y4
      Related
      ENSP00000439009.2, ENST00000544745.2
      Conserved Domains (6) summary
      smart00490
      Location:585 → 674
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:768 → 859
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:240 → 1016
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:271 → 411
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam07717
      Location:894 → 1011
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
      cl21455
      Location:368 → 511
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_047429218.1 → XP_047285174.1  probable ATP-dependent RNA helicase DHX37 isoform X2

    3. XM_011538600.3 → XP_011536902.1  probable ATP-dependent RNA helicase DHX37 isoform X4

      See identical proteins and their annotated locations for XP_011536902.1

      Conserved Domains (5) summary
      smart00490
      Location:585 → 674
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:768 → 857
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:240 → 837
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:271 → 411
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cl21455
      Location:368 → 511
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_011538598.3 → XP_011536900.1  probable ATP-dependent RNA helicase DHX37 isoform X3

      Conserved Domains (5) summary
      smart00490
      Location:585 → 674
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:768 → 859
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:240 → 895
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:271 → 411
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cl21455
      Location:368 → 511
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      124952035..124994326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372669.1 → XP_054228644.1  probable ATP-dependent RNA helicase DHX37 isoform X1

    2. XM_054372670.1 → XP_054228645.1  probable ATP-dependent RNA helicase DHX37 isoform X2

    3. XM_054372672.1 → XP_054228647.1  probable ATP-dependent RNA helicase DHX37 isoform X4

    4. XM_054372673.1 → XP_054228648.1  probable ATP-dependent RNA helicase DHX37 isoform X4

    5. XM_054372671.1 → XP_054228646.1  probable ATP-dependent RNA helicase DHX37 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY37.1 GenPept UniProtKB/Swiss-Prot:Q8IY37

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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