ENSG00000132153


Homo sapiens

Features
Gene ID: ENSG00000132153
  
Biological name :DHX30
  
Synonyms : DExH-box helicase 30 / DHX30 / Q7L2E3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p21.31
Gene start: 47802909
Gene end: 47850195
  
Corresponding Affymetrix probe sets: 1556144_at (Human Genome U133 Plus 2.0 Array)   204355_at (Human Genome U133 Plus 2.0 Array)   212674_s_at (Human Genome U133 Plus 2.0 Array)   230871_at (Human Genome U133 Plus 2.0 Array)   236844_at (Human Genome U133 Plus 2.0 Array)   239772_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000410571
Ensembl peptide - ENSP00000405620
Ensembl peptide - ENSP00000483160
Ensembl peptide - ENSP00000343442
Ensembl peptide - ENSP00000379094
Ensembl peptide - ENSP00000392601
Ensembl peptide - ENSP00000394682
Ensembl peptide - ENSP00000395166
NCBI entrez gene - 22907     See in Manteia.
OMIM - 616423
RefSeq - XM_017005917
RefSeq - XM_011533495
RefSeq - XM_011533496
RefSeq - XM_011533497
RefSeq - XM_011533498
RefSeq - XM_017005914
RefSeq - XM_017005915
RefSeq - XM_017005916
RefSeq - NM_001330990
RefSeq - NM_014966
RefSeq - NM_138615
RefSeq - XM_006713033
RefSeq - XM_011533490
RefSeq - XM_011533491
RefSeq - XM_011533492
RefSeq - XM_011533493
RefSeq - XM_011533494
RefSeq Peptide - NP_619520
RefSeq Peptide - NP_001317919
RefSeq Peptide - NP_055781
swissprot - A0A024R2T6
swissprot - Q7L2E3
swissprot - H7BXY3
swissprot - F6R0H4
Ensembl - ENSG00000132153
  
Related genetic diseases (OMIM): 617804 - Neurodevelopmental disorder with severe motor impairment and absent language, 617804
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dhx30ENSDARG00000077839Danio rerio
 DHX30ENSGALG00000039830Gallus gallus
 Dhx30ENSMUSG00000032480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DHX57 / Q6P158 / DExH-box helicase 57ENSG0000016321428
DHX29 / Q7Z478 / DExH-box helicase 29ENSG0000006724826
DHX36 / Q9H2U1 / DEAH-box helicase 36ENSG0000017495325
Q9H6S0 / YTHDC2 / YTH domain containing 2ENSG0000004718824
DHX9 / Q08211 / DExH-box helicase 9ENSG0000013582923
TDRD9 / Q8NDG6 / tudor domain containing 9ENSG0000015641418


Protein motifs (from Interpro)
Interpro ID Name
 IPR001650  Helicase, C-terminal
 IPR002464  DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
 IPR007502  Helicase-associated domain
 IPR011545  DEAD/DEAH box helicase domain
 IPR011709  Domain of unknown function DUF1605
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006396 RNA processing IBA
 biological_processGO:0042254 ribosome biogenesis IEA
 biological_processGO:1902775 mitochondrial large ribosomal subunit assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0035770 ribonucleoprotein granule IDA
 cellular_componentGO:0042645 mitochondrial nucleoid IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003725 double-stranded RNA binding IDA
 molecular_functionGO:0004004 ATP-dependent RNA helicase activity IBA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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