Homo sapiens (human): 55164
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Entry
55164 CDS
T01001
Symbol
SHQ1, DYT35, GRIM-1, NEDDS, Shq1p
Name
(RefSeq) SHQ1, H/ACA ribonucleoprotein assembly factor
KO
K14764
protein SHQ1
Organism
hsa
Homo sapiens (human)
Disease
H00831
Primary dystonia
H02397
Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03009 Ribosome biogenesis [BR:
hsa03009
]
55164 (SHQ1)
Ribosome biogenesis [BR:
hsa03009
]
Eukaryotic type
Sno RNPs
Box H/ACA snoRNPs
55164 (SHQ1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SHQ1
SHQ1-like_CS
Motif
Other DBs
NCBI-GeneID:
55164
NCBI-ProteinID:
NP_060600
OMIM:
613663
HGNC:
25543
Ensembl:
ENSG00000144736
UniProt:
Q6PI26
Structure
PDB
PDBj
LinkDB
All DBs
Position
3:complement(72725272..72848445)
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AA seq
577 aa
AA seq
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MLTPAFDLSQDPDFLTIAIRVPYARVSEFDVYFEGSDFKFYAKPYFLRLTLPGRIVENGS
EQGSYDADKGIFTIRLPKETPGQHFEGLNMLTALLAPRKSRTAKPLVEEIGASEIPEEVV
DDEEFDWEIEQTPCEEVSESALNPQCHYGFGNLRSGVLQRLQDELSDVIDIKDPDFTPAA
ERRQKRLAAELAKFDPDHYLADFFEDEAIEQILKYNPWWTDKYSKMMAFLEKSQEQENHA
TLVSFSEEEKYQLRKFVNKSYLLDKRACRQVCYSLIDILLAYCYETRVTEGEKNVESAWN
IRKLSPTLCWFETWTNVHDIMVSFGRRVLCYPLYRHFKLVMKAYRDTIKILQLGKSAVLK
CLLDIHKIFQENDPAYILNDLYISDYCVWIQKVKSKKLAALAEALKEVSLTKAQLGLELE
ELEAAALLVQEEETALKAAHSVSGQQTLCSSSEASDSEDSDSSVSSGNEDSGSDSEQDEL
KDSPSETVSSLQGPFLEESSAFLIVDGGVRRNTAIQESDASQGKPLASSWPLGVSGPLIE
ELGEQLKTTVQVSEPKGTTAVNRSNIQERDGCQTPNN
NT seq
1734 nt
NT seq
+upstream
nt +downstream
nt
atgctgaccccggcgttcgacctcagccaggatccggacttcctgactatcgccatccgc
gtgccctacgcccgggtctccgagttcgacgtctacttcgaggggtctgacttcaagttc
tacgccaagccatactttctcagattaacccttcctggaagaattgtagaaaatggaagt
gagcaagggtcctatgatgcagataaaggaatttttaccattcgcctgcccaaagaaacc
cctggccagcattttgaggggctgaacatgttaactgctcttctggcaccaagaaaatcc
aggacagcaaaaccacttgtggaagaaataggtgcttctgagattcctgaggaagtagtt
gacgatgaagagtttgattgggaaattgagcagacaccctgtgaagaggtatcagaaagt
gctttgaatccgcagtgccactatggatttggaaacttacgatcaggagtgttgcaacgg
ttacaggatgaactgagtgatgttattgatattaaggatccagatttcacccctgcagct
gaacgaagacagaagcgcctggccgctgagctggccaagtttgatcctgatcattatcta
gctgacttttttgaagatgaggcgattgaacagattttgaagtataatccttggtggact
gacaaatattcaaaaatgatggcctttttggaaaagagtcaggaacaagaaaatcatgct
acattagtgtctttttctgaagaagagaagtatcagctacgaaaatttgtcaataaatct
tatctgctggacaagagagcctgtcgtcaagtgtgctacagtttgattgatatccttctg
gcatattgctatgaaacccgtgtcactgaaggagagaagaatgttgaatctgcatggaat
atcaggaaactgagtccaacactatgctggtttgagacttggactaacgttcatgatatc
atggtgtcttttggaagaagggtgttgtgttacccactctatcgccatttcaagctggtg
atgaaggcctacagggacactataaagatattgcaactgggtaaaagtgcagttttaaag
tgtctcctggatattcacaaaatttttcaggaaaatgacccagcgtacatactgaatgat
ctctacatctcagactactgtgtgtggattcagaaagtcaaatccaaaaagttggcagct
cttgcagaagccttaaaggaagtctcccttacaaaggcccagctggggttagaactggaa
gaactagaagcagcagcactgcttgtccaggaggaagaaactgcattaaaagcagcccat
tcagtttctgggcagcagacactttgctccagctctgaggcaagtgattcggaggactca
gacagcagcgtgtcatctggaaacgaagactcaggctcagattcagaacaagatgaactc
aaagatagtccatctgagacagtcagttctttgcaaggtccctttcttgaagaaagcagt
gcctttcttattgttgatggtggagtacgcagaaacacagccatccaggagtctgatgcc
agtcagggaaagccacttgcctcttcctggcctcttggagtgtctgggcctctgatagag
gagcttggggaacaactgaagactacagttcaggtttctgaacccaagggcaccactgct
gtaaaccgcagcaatattcaggagagagacggctgtcagacaccaaataattga
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