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

Gene ID: 57647, updated on 13-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
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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

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