KEGG   Homo sapiens (human): 22907
Entry
22907             CDS       T01001                                 
Symbol
DHX30, DDX30, NEDMIAL, RETCOR
Name
(RefSeq) DExH-box helicase 30
  KO
K13185  ATP-dependent RNA helicase DHX30 [EC:5.6.2.6]
Organism
hsa  Homo sapiens (human)
Disease
H02459  Syndromic neurodevelopmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    22907 (DHX30)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    22907 (DHX30)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.6  RNA 3'-5' helicase
     22907 (DHX30)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Spliceosome associated proteins (SAPs)
   RNA helicase-like proteins
    22907 (DHX30)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    22907 (DHX30)
SSDB
Motif
Pfam: Helicase_C DEAD HA2_C OB_NTP_bind dsrm Dicer_dimer nSTAND3 AAA_22 AAA_19 AAA_16 HA2_N AAA_23
Other DBs
NCBI-GeneID: 22907
NCBI-ProteinID: NP_619520
OMIM: 616423
HGNC: 16716
Ensembl: ENSG00000132153
UniProt: Q7L2E3
Structure
Position
3:47803138..47850193
AA seq 1194 aa
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSV
IGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQL
FKGWGLLGPRNELFDAAKYRVLADRFGSPADSWWRPEPTMPPTSWRQLNPESIRPGGPGG
LSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAPLRDSRGSSFEMTDDDSAIRALT
QFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTKLSTLTLLWPCPMTFVAKGRRKAEA
ENKAAALACKKLKSLGLVDRNNEPLTHAMYNLASLRELGETQRRPCTIQVPEPILRKIET
FLNHYPVESSWIAPELRLQSDDILPLGKDSGPLSDPITGKPYVPLLEAEEVRLSQSLLEL
WRRRGPVWQEAPQLPVDPHRDTILNAIEQHPVVVISGDTGCGKTTRIPQLLLERYVTEGR
GARCNVIITQPRRISAVSVAQRVSHELGPSLRRNVGFQVRLESKPPSRGGALLFCTVGIL
LRKLQSNPSLEGVSHVIVDEVHERDVNTDFLLILLKGLQRLNPALRLVLMSATGDNERFS
RYFGGCPVIKVPGFMYPVKEHYLEDILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVL
HIDARGEPGGILCFLPGWQEIKGVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQP
PVGVRKIVLATNIAETSITINDIVHVVDSGLHKEERYDLKTKVSCLETVWVSRANVIQRR
GRAGRCQSGFAYHLFPRSRLEKMVPFQVPEILRTPLENLVLQAKIHMPEKTAVEFLSKAV
DSPNIKAVDEAVILLQEIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLL
VVVSCLTRDPFSSSLQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSREN
YLEENLLYAPSLRFIHGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLM
AGLYPNLIQVRQGKVTRQGKFKPNSVTYRTKSGNILLHKSTINREATRLRSRWLTYFMAV
KSNGSVFVRDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDLLRLEGDSRTVRLLKE
LRRALGRMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD
NT seq 3585 nt   +upstreamnt  +downstreamnt
atgttcagcctggactcattcagaaaagatcgggcccagcacaggcagcgtcagtgcaaa
cttcccccaccccgccttccacccatgtgtgtcaaccctaccccaggagggaccatctct
cgagcttctagggacctattaaaagagttcccacagcccaaaaatcttctcaacagtgtg
attggaagagccctcggcatctcacatgcaaaagacaaactagtctacgtgcacacaaat
ggaccgaagaaaaagaaagtcacactgcacataaaatggcccaagagcgtggaggtagaa
ggctatggcagcaagaagatcgatgctgagcggcaggctgcagctgcagcctgccagctg
ttcaagggttggggtctgctaggtccccggaatgagttgtttgacgcagccaaataccga
gtgctagctgatcgctttggctcccctgccgacagctggtggcgtccggaacccaccatg
ccccctacttcctggcggcagctgaatccagagagtattcgaccagggggacctgggggc
ctatcccgctctttaggccgggaagaagaggaggacgaggaggaagagctagaagaaggg
accatagatgttaccgacttcttgtccatgacccagcaggattcccacgctccactcagg
gactcaagggggagttcctttgagatgacagatgacgacagtgccattagggctctgacc
cagtttccacttcccaagaaccttctggccaaggtgattcagattgcaacgtcatcctcc
acagctaagaacctcatgcagttccatactgtgggcaccaagaccaagctgtctacactc
accctgctctggccctgccccatgacctttgttgccaaagggcgccgcaaagcagaggct
gagaataaggcggcagccttggcctgcaagaaactgaagagcctgggcctggtggacagg
aacaacgaaccgcttacacacgccatgtataacctggcctctttgcgtgagctgggtgag
acccagcgccgaccatgcaccatccaggtgcccgagcccatcctccgcaagatagagacc
ttcctgaaccattaccctgtggagagttcatggatcgccccagaactccggctgcagagt
gatgacatcttgcccttgggcaaggactcagggcctctgagtgaccctatcacaggcaag
ccctatgtgcccctgttggaagcagaggaggtacgtctcagccagagtctgctagaactg
tggcggcggcgagggccggtctggcaggaggccccccagctacctgtggacccacatcgg
gacaccatcctcaacgccattgagcagcacccggtggtggtcatctctggggacacgggc
tgtgggaagaccacgcgcatcccccagctgttgctggagcgctatgtgaccgagggccga
ggtgcccgctgcaatgttatcatcacccaacctcgccgcatctctgctgtgtctgtggca
cagcgggtcagccacgaactgggcccctccctgcgccggaatgtgggcttccaggtgcgg
ttggaaagtaagcccccatcccgaggcggggccctgctcttctgcactgtgggtatcctg
ctgcgtaagctgcagagcaaccccagcctggagggcgtgagccacgtcatcgtggatgag
gtgcatgagcgggacgtgaacacagactttctgctgatcctgctcaagggcctgcagcgg
ctcaacccggccctgcggctggtgctcatgagtgccacaggggacaatgagcgcttctcc
cgatactttggtggctgccccgtcatcaaggtgcctggcttcatgtacccagtcaaggag
cactacctagaggacatcctggccaagttgggcaagcaccagtacctgcaccggcaccgg
caccatgagtctgaggatgaatgcgcactcgatttggaccttgtgactgatctggttctg
cacatcgatgctcgcggggaaccaggtgggatcctgtgcttcctgcctgggtggcaggag
atcaaaggagtgcagcagcgcctccaggaggccctgggcatgcacgagagcaagtacctc
atcctgccagtgcactccaacatccccatgatggatcagaaggccatattccagcagcct
ccagttggggtgcgcaagattgtcttggccaccaacattgctgagacttccatcacaatc
aatgacatcgtgcatgtggtggacagtgggctgcacaaggaagaacgctatgacctgaag
accaaggtgtcctgcctggagacagtgtgggtatcaagagccaatgtgatccagcgccgg
ggccgggcgggccgctgccagtccggctttgcctaccacttgttccctcgaagccggctg
gagaaaatggtccctttccaagtgccagagatcctgcgcacacctcttgagaacctggtg
ctgcaagcgaaaatccacatgcctgagaagacggcggtggagttcctgtccaaggctgtg
gacagtccaaacatcaaggcagtggacgaggctgtgatcttgctccaggagatcggggtg
ctggaccagcgggagtacctgactaccctggggcagcgcctggctcacatctccaccgac
ccccggttggccaaggccattgtgttggctgccatcttccgttgcctgcacccactactg
gtggtcgtttcctgcctcacccgggaccccttcagcagcagcctacagaaccgggcagag
gtggacaaggtgaaagcactgttgagccatgacagcggcagtgaccacctggcctttgtg
cgggctgtcgccggctgggaggaggtgctgcgttggcaggaccgcagctcccgggagaat
tacctggaggaaaacctgctgtacgcacccagcctgcgcttcatccacggactcatcaag
cagttctcagagaacatttatgaggccttcctggtggggaagccctcggactgcaccctg
gcctccgcccagtgcaacgagtacagtgaggaggaggagctggtgaagggcgtgctgatg
gccggcctctaccccaacctcatccaggtgaggcagggcaaggtcacccggcaggggaag
ttcaagcccaacagcgtcacatataggaccaaatcaggcaacatcctgctgcacaagtcg
accattaacagggaggccacacggttacggagccgatggctgacgtatttcatggcagtc
aagtccaatggcagcgtcttcgtccgggactcctctcaggtgcacccgctagctgtgctg
ctgctgaccgacggggacgtgcacatccgtgatgacgggcgccgggccaccatctcactg
agcgacagtgacctgctgcggctggagggtgactcgcgtaccgtgcggctgctgaaggag
ctgcggcgggccctgggccgcatggtggagcggagcctgcgcagcgagctggctgcactt
ccccccagcgtacaggaggagcacgggcagctgcttgcgctactggcagagctgctgcga
ggaccctgtggcagctttgatgtgcgcaagacagctgacgactga

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (39)   
   RefSeq(nuc) (15)   
   GenBank (12)   
   EMBL (12)   
3D Structure (1)   
   PDB (1)   
Protein domain (12)   
   Pfam (12)   
All databases (99)   

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