Homo sapiens (human): 22907
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Helicase_C
DEAD
HA2_C
OB_NTP_bind
dsrm
Dicer_dimer
nSTAND3
AAA_22
AAA_19
AAA_16
HA2_N
AAA_23
Motif
Other DBs
NCBI-GeneID:
22907
NCBI-ProteinID:
NP_619520
OMIM:
616423
HGNC:
16716
Ensembl:
ENSG00000132153
UniProt:
Q7L2E3
Structure
PDB
LinkDB
All DBs
Position
3:47803138..47850193
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AA seq
1194 aa
AA seq
DB search
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSV
IGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQL
FKGWGLLGPRNELFDAAKYRVLADRFGSPADSWWRPEPTMPPTSWRQLNPESIRPGGPGG
LSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAPLRDSRGSSFEMTDDDSAIRALT
QFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTKLSTLTLLWPCPMTFVAKGRRKAEA
ENKAAALACKKLKSLGLVDRNNEPLTHAMYNLASLRELGETQRRPCTIQVPEPILRKIET
FLNHYPVESSWIAPELRLQSDDILPLGKDSGPLSDPITGKPYVPLLEAEEVRLSQSLLEL
WRRRGPVWQEAPQLPVDPHRDTILNAIEQHPVVVISGDTGCGKTTRIPQLLLERYVTEGR
GARCNVIITQPRRISAVSVAQRVSHELGPSLRRNVGFQVRLESKPPSRGGALLFCTVGIL
LRKLQSNPSLEGVSHVIVDEVHERDVNTDFLLILLKGLQRLNPALRLVLMSATGDNERFS
RYFGGCPVIKVPGFMYPVKEHYLEDILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVL
HIDARGEPGGILCFLPGWQEIKGVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQP
PVGVRKIVLATNIAETSITINDIVHVVDSGLHKEERYDLKTKVSCLETVWVSRANVIQRR
GRAGRCQSGFAYHLFPRSRLEKMVPFQVPEILRTPLENLVLQAKIHMPEKTAVEFLSKAV
DSPNIKAVDEAVILLQEIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLL
VVVSCLTRDPFSSSLQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSREN
YLEENLLYAPSLRFIHGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLM
AGLYPNLIQVRQGKVTRQGKFKPNSVTYRTKSGNILLHKSTINREATRLRSRWLTYFMAV
KSNGSVFVRDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDLLRLEGDSRTVRLLKE
LRRALGRMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD
NT seq
3585 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system