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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
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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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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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

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