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    DHX57 DExH-box helicase 57 [ Homo sapiens (human) ]

    Gene ID: 90957, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DHX57provided by HGNC
    Official Full Name
    DExH-box helicase 57provided by HGNC
    Primary source
    HGNC:HGNC:20086
    See related
    Ensembl:ENSG00000163214 AllianceGenome:HGNC:20086
    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
    DDX57
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 16.0), brain (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DHX57 in Genome Data Viewer
    Location:
    2p22.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38797729..38875934, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38806517..38884496, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39024871..39103075, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NPL pseudogene 1 Neighboring gene gem nuclear organelle associated protein 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39016221-39016721 Neighboring gene MPRA-validated peak3667 silencer Neighboring gene argininosuccinate synthetase 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 4728 Neighboring gene uncharacterized LOC105374470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:39102285-39103268 Neighboring gene RNA, U6 small nuclear 851, pseudogene Neighboring gene MORN repeat containing 2

    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 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. Insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3) promotes lung tumorigenesis via attenuating p53 stability. Zhao W, et al. Oncotarget, 2017 Nov 7. PMID 29212181, Free PMC Article
    2. Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S, et al. Nature, 2014 Nov 13. PMID 25363760, Free PMC Article
    3. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK, et al. Nat Neurosci, 2017 Apr. PMID 28263302, Free PMC Article
    4. The OTUD6B-LIN28B-MYC axis determines the proliferative state in multiple myeloma. Paulmann C, et al. EMBO J, 2022 Oct 17. PMID 36059274, Free PMC Article
    5. Arginine methylation of SARS-Cov-2 nucleocapsid protein regulates RNA binding, its ability to suppress stress granule formation, and viral replication. Cai T, et al. J Biol Chem, 2021 Jul. PMID 34029587, Free PMC Article

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-06-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2018-06-28)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ32861

    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 ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative ATP-dependent RNA helicase DHX57
    Names
    DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57
    DEAH box protein 57
    DEAH-box RNA/DNA helicase AAM73547
    DEAH-box helicase 57
    NP_001316892.1
    NP_945314.1
    XP_011531456.1
    XP_011531457.1
    XP_011531458.1
    XP_024308983.1
    XP_047302224.1
    XP_047302225.1
    XP_054200442.1
    XP_054200443.1
    XP_054200444.1
    XP_054200445.1
    XP_054200446.1
    XP_054200447.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001329963.1 → NP_001316892.1  putative ATP-dependent RNA helicase DHX57 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC018693, KF510812
      Conserved Domains (3) summary
      COG1643
      Location:398 → 1194
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd14317
      Location:79 → 116
      UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
      pfam05773
      Location:144 → 317
      RWD; RWD domain

    2. NM_198963.3 → NP_945314.1  putative ATP-dependent RNA helicase DHX57 isoform 1

      See identical proteins and their annotated locations for NP_945314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC018693, AF070590, BC131534, DB211450
      Consensus CDS
      CCDS1800.1
      UniProtKB/Swiss-Prot
      A2RRC7, Q53SI4, Q6P158, Q6P9G1, Q7Z6H3, Q8NG17, Q96M33
      Related
      ENSP00000405111.2, ENST00000457308.6
      Conserved Domains (8) summary
      smart00356
      Location:303 → 323
      ZnF_C3H1; zinc finger
      smart00487
      Location:550 → 730
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:1043 → 1125
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:561 → 703
      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.
      cd14317
      Location:181 → 218
      UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
      pfam00271
      Location:832 → 968
      Helicase_C; Helicase conserved C-terminal domain
      pfam05773
      Location:243 → 418
      RWD; RWD domain
      pfam07717
      Location:1164 → 1310
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38797729..38875934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533154.3 → XP_011531456.1  putative ATP-dependent RNA helicase DHX57 isoform X1

      See identical proteins and their annotated locations for XP_011531456.1

      UniProtKB/Swiss-Prot
      A2RRC7, Q53SI4, Q6P158, Q6P9G1, Q7Z6H3, Q8NG17, Q96M33
      Conserved Domains (8) summary
      smart00356
      Location:303 → 323
      ZnF_C3H1; zinc finger
      smart00487
      Location:550 → 730
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:1043 → 1125
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:561 → 703
      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.
      cd14317
      Location:181 → 218
      UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
      pfam00271
      Location:832 → 968
      Helicase_C; Helicase conserved C-terminal domain
      pfam05773
      Location:243 → 418
      RWD; RWD domain
      pfam07717
      Location:1164 → 1310
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    2. XM_011533155.3 → XP_011531457.1  putative ATP-dependent RNA helicase DHX57 isoform X1

      See identical proteins and their annotated locations for XP_011531457.1

      UniProtKB/Swiss-Prot
      A2RRC7, Q53SI4, Q6P158, Q6P9G1, Q7Z6H3, Q8NG17, Q96M33
      Conserved Domains (8) summary
      smart00356
      Location:303 → 323
      ZnF_C3H1; zinc finger
      smart00487
      Location:550 → 730
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:1043 → 1125
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:561 → 703
      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.
      cd14317
      Location:181 → 218
      UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
      pfam00271
      Location:832 → 968
      Helicase_C; Helicase conserved C-terminal domain
      pfam05773
      Location:243 → 418
      RWD; RWD domain
      pfam07717
      Location:1164 → 1310
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    3. XM_024453215.1 → XP_024308983.1  putative ATP-dependent RNA helicase DHX57 isoform X3

      Conserved Domains (3) summary
      COG1643
      Location:398 → 1194
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd14317
      Location:79 → 116
      UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
      pfam05773
      Location:144 → 317
      RWD; RWD domain

    4. XM_011533156.4 → XP_011531458.1  putative ATP-dependent RNA helicase DHX57 isoform X2

      Conserved Domains (8) summary
      smart00356
      Location:303 → 323
      ZnF_C3H1; zinc finger
      smart00487
      Location:550 → 730
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:1043 → 1125
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:561 → 703
      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.
      cd14317
      Location:181 → 218
      UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
      pfam00271
      Location:832 → 968
      Helicase_C; Helicase conserved C-terminal domain
      pfam05773
      Location:243 → 418
      RWD; RWD domain
      pfam07717
      Location:1164 → 1310
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    5. XM_047446268.1 → XP_047302224.1  putative ATP-dependent RNA helicase DHX57 isoform X4

    6. XM_047446269.1 → XP_047302225.1  putative ATP-dependent RNA helicase DHX57 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38806517..38884496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344467.1 → XP_054200442.1  putative ATP-dependent RNA helicase DHX57 isoform X1

      UniProtKB/Swiss-Prot
      A2RRC7, Q53SI4, Q6P158, Q6P9G1, Q7Z6H3, Q8NG17, Q96M33

    2. XM_054344468.1 → XP_054200443.1  putative ATP-dependent RNA helicase DHX57 isoform X1

      UniProtKB/Swiss-Prot
      A2RRC7, Q53SI4, Q6P158, Q6P9G1, Q7Z6H3, Q8NG17, Q96M33

    3. XM_054344470.1 → XP_054200445.1  putative ATP-dependent RNA helicase DHX57 isoform X3

    4. XM_054344469.1 → XP_054200444.1  putative ATP-dependent RNA helicase DHX57 isoform X2

    5. XM_054344471.1 → XP_054200446.1  putative ATP-dependent RNA helicase DHX57 isoform X4

    6. XM_054344472.1 → XP_054200447.1  putative ATP-dependent RNA helicase DHX57 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144995.2: Suppressed sequence

      Description
      NM_144995.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

    2. NM_145646.2: Suppressed sequence

      Description
      NM_145646.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P158.2 GenPept UniProtKB/Swiss-Prot:Q6P158

    Gene LinkOut

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

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