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

Gene ID: 90957, updated on 5-Jul-2020

Summary

Official Symbol
DHX57provided by HGNC
Official Full Name
DExH-box helicase 57provided by HGNC
Primary source
HGNC:HGNC:20086
See related
Ensembl:ENSG00000163214
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
Expression
Broad expression in testis (RPKM 16.0), brain (RPKM 4.7) and 24 other tissues See more
Orthologs

Genomic context

See DHX57 in Genome Data Viewer
Location:
2p22.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (38797729..38875934, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39024871..39103021, 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 argininosuccinate synthetase 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 4728 Neighboring gene uncharacterized LOC105374470 Neighboring gene RNA, U6 small nuclear 851, pseudogene Neighboring gene MORN repeat containing 2

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32861

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001329963.1NP_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:3981194
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    cd14317
    Location:79116
    UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
    pfam05773
    Location:144317
    RWD; RWD domain
  2. NM_198963.3NP_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
    Q6P158
    Related
    ENSP00000405111.2, ENST00000457308.6
    Conserved Domains (8) summary
    smart00356
    Location:303323
    ZnF_C3H1; zinc finger
    smart00487
    Location:550730
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:10431125
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:561703
    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:181218
    UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
    pfam00271
    Location:832968
    Helicase_C; Helicase conserved C-terminal domain
    pfam05773
    Location:243418
    RWD; RWD domain
    pfam07717
    Location:11641310
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011533156.3XP_011531458.1  putative ATP-dependent RNA helicase DHX57 isoform X2

    Conserved Domains (8) summary
    smart00356
    Location:303323
    ZnF_C3H1; zinc finger
    smart00487
    Location:550730
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:10431125
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:561703
    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:181218
    UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
    pfam00271
    Location:832968
    Helicase_C; Helicase conserved C-terminal domain
    pfam05773
    Location:243418
    RWD; RWD domain
    pfam07717
    Location:11641310
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  2. XM_011533155.2XP_011531457.1  putative ATP-dependent RNA helicase DHX57 isoform X1

    See identical proteins and their annotated locations for XP_011531457.1

    UniProtKB/Swiss-Prot
    Q6P158
    Conserved Domains (8) summary
    smart00356
    Location:303323
    ZnF_C3H1; zinc finger
    smart00487
    Location:550730
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:10431125
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:561703
    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:181218
    UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
    pfam00271
    Location:832968
    Helicase_C; Helicase conserved C-terminal domain
    pfam05773
    Location:243418
    RWD; RWD domain
    pfam07717
    Location:11641310
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  3. XM_011533154.2XP_011531456.1  putative ATP-dependent RNA helicase DHX57 isoform X1

    See identical proteins and their annotated locations for XP_011531456.1

    UniProtKB/Swiss-Prot
    Q6P158
    Conserved Domains (8) summary
    smart00356
    Location:303323
    ZnF_C3H1; zinc finger
    smart00487
    Location:550730
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:10431125
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:561703
    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:181218
    UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
    pfam00271
    Location:832968
    Helicase_C; Helicase conserved C-terminal domain
    pfam05773
    Location:243418
    RWD; RWD domain
    pfam07717
    Location:11641310
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  4. XM_024453215.1XP_024308983.1  putative ATP-dependent RNA helicase DHX57 isoform X3

    Conserved Domains (3) summary
    COG1643
    Location:3981194
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    cd14317
    Location:79116
    UBA_DHX57; UBA domain found in putative ATP-dependent RNA helicase DHX57 and similar proteins
    pfam05773
    Location:144317
    RWD; RWD domain

RNA

  1. XR_001739030.2 RNA Sequence

  2. XR_002959363.1 RNA Sequence

    Related
    ENST00000620517.4
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