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DDX43 DEAD-box helicase 43 [ Homo sapiens (human) ]

Gene ID: 55510, updated on 27-Nov-2024

Summary

Official Symbol
DDX43provided by HGNC
Official Full Name
DEAD-box helicase 43provided by HGNC
Primary source
HGNC:HGNC:18677
See related
Ensembl:ENSG00000080007 MIM:606286; AllianceGenome:HGNC:18677
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
CT13; HAGE
Summary
The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 12.4), placenta (RPKM 1.9) and 3 other tissues See more
Orthologs
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Genomic context

See DDX43 in Genome Data Viewer
Location:
6q13
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73394828..73417566)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74571532..74594268)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74104551..74127289)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene oocyte expressed protein Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74104168-74104668 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:74108069-74108726 Neighboring gene ribosomal protein S6 pseudogene 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74113715-74113899 Neighboring gene Sharpr-MPRA regulatory region 12175 Neighboring gene cyclic GMP-AMP synthase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74171453-74172298 Neighboring gene RNA, U6 small nuclear 975, pseudogene Neighboring gene mitochondrial tRNA translation optimization 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp434H2114

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 TAS
Traceable Author Statement
more info
PubMed 
enables RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
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 mRNA binding 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 chromatin looping IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
probable ATP-dependent RNA helicase DDX43
Names
DEAD (Asp-Glu-Ala-Asp) box polypeptide 43
DEAD box protein HAGE
DEAD-box protein 43
cancer/testis antigen 13
helical antigen
NP_061135.2
XP_047274937.1
XP_047274938.1
XP_047274939.1
XP_047274940.1
XP_047274941.1
XP_047274942.1
XP_054211777.1
XP_054211778.1
XP_054211779.1
XP_054211780.1
XP_054211781.1
XP_054211782.1

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_018665.3NP_061135.2  probable ATP-dependent RNA helicase DDX43

    See identical proteins and their annotated locations for NP_061135.2

    Status: REVIEWED

    Source sequence(s)
    BC066938, BQ020439, BX646425, DA453913
    Consensus CDS
    CCDS4977.1
    UniProtKB/Swiss-Prot
    B4E0C8, Q6NXR1, Q9NXZ2
    UniProtKB/TrEMBL
    B2R988
    Related
    ENSP00000359361.4, ENST00000370336.5
    Conserved Domains (4) summary
    PTZ00424
    Location:241622
    PTZ00424; helicase 45; Provisional
    cd00079
    Location:461589
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    cd00105
    Location:76128
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd00268
    Location:251448
    DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    73394828..73417566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418981.1XP_047274937.1  probable ATP-dependent RNA helicase DDX43 isoform X1

  2. XM_047418983.1XP_047274939.1  probable ATP-dependent RNA helicase DDX43 isoform X3

  3. XM_047418982.1XP_047274938.1  probable ATP-dependent RNA helicase DDX43 isoform X2

  4. XM_047418984.1XP_047274940.1  probable ATP-dependent RNA helicase DDX43 isoform X4

  5. XM_047418985.1XP_047274941.1  probable ATP-dependent RNA helicase DDX43 isoform X4

  6. XM_047418986.1XP_047274942.1  probable ATP-dependent RNA helicase DDX43 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    74571532..74594268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355802.1XP_054211777.1  probable ATP-dependent RNA helicase DDX43 isoform X1

  2. XM_054355804.1XP_054211779.1  probable ATP-dependent RNA helicase DDX43 isoform X3

  3. XM_054355803.1XP_054211778.1  probable ATP-dependent RNA helicase DDX43 isoform X2

  4. XM_054355805.1XP_054211780.1  probable ATP-dependent RNA helicase DDX43 isoform X4

  5. XM_054355806.1XP_054211781.1  probable ATP-dependent RNA helicase DDX43 isoform X4

  6. XM_054355807.1XP_054211782.1  probable ATP-dependent RNA helicase DDX43 isoform X5