KEGG   Homo sapiens (human): 79631
Entry
79631             CDS       T01001                                 
Symbol
EFL1, EFTUD1, FAM42A, HsT19294, RIA1, SDS2
Name
(RefSeq) elongation factor like GTPase 1
  KO
K14536  ribosome assembly protein 1 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Disease
H00439  Shwachman-Diamond syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    79631 (EFL1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    79631 (EFL1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Pre-60S particles
   GTPases
    79631 (EFL1)
SSDB
Motif
Pfam: GTP_EFTU EFL1 EFG_C EFG_III EF-G_D2 EFG_IV GTP_EFTU_D2 MMR_HSR1
Other DBs
NCBI-GeneID: 79631
NCBI-ProteinID: NP_001309774
OMIM: 617538
HGNC: 25789
Ensembl: ENSG00000140598
UniProt: Q7Z2Z2
Structure
LinkDB
Position
15:complement(82130233..82262734)
AA seq 1120 aa
MVLNSLDKMIQLQKNTANIRNICVLAHVDHGKTTLADCLISSNGIISSRLAGKLRYMDSR
EDEQIRGITMKSSAISLHYATGNEEYLINLIDSPGHVDFSSEVSTAVRICDGCIIVVDAV
EGVCPQTQAVLRQAWLENIRPVLVINKIDRLIVELKFTPQEAYSHLKNILEQINALTGTL
FTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDTDDSHLYFSPEQGNVVFTSAIDG
WGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILEN
IWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVC
QKLPSPLDITAERVERLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAV
DAKALPQNKPRPLTQEEIAQRRERARQRHAEKLAAAQGQAPLEPTQDGSAIETCPKGEEP
RGDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVLGPKYSPLEFLRRVPL
GFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCS
LPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLV
TAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQ
MKEDQSKIPEGIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLT
SSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWSFGPRKCGPNILVNKS
EDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLS
KFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQ
LIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTD
MFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEK
ADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK
NT seq 3363 nt   +upstreamnt  +downstreamnt
atggtgctcaacagtttggataagatgattcaactccagaaaaacactgccaacatcagg
aatatttgtgttttggctcatgttgaccatggaaaaactactctggctgactgtcttata
tctagcaatggaatcatctccagccgcctagcaggcaagttaaggtacatggacagcaga
gaagatgaacagatccgagggatcactatgaaatccagtgccatttccctacattatgca
acaggtaatgaggagtacctgatcaatctgatagactctccaggacacgtggacttttcc
tcagaagtatcaaccgctgttcgcatttgtgatggatgcatcattgtggtagatgctgtg
gaaggagtctgtccacagacacaggcagttctgcgacaagcttggcttgaaaacatccgt
ccggttttagtgattaataagattgatcgcttgatagtggaactgaaattcaccccacaa
gaggcctattctcacctcaagaatattttagaacagattaatgcgctcacagggactctt
tttacttctaaagtcctagaagaaagagcagagagggagactgaatcccaagtgaatcca
aattctgaacaaggagagcaagtatatgactggagcactggcttggaggacacagatgat
tctcacctttacttctctccagaacagggaaatgtggtgtttaccagtgcaatagatggg
tggggctttggaattgagcacttcgccagaatctacagtcaaaaaattggcatcaaaaag
gaagttcttatgaaaaccttgtggggagattactatataaatatgaaggctaaaaagatc
atgaagggtgatcaggccaaaggaaagaaacctttatttgtacagttgatcctggaaaat
atatggagtttgtatgatgctgttttgaaaaaggacaaagacaaaattgataaaatagtg
acttctttaggattaaaaattggagcccgggaggcacgacattcagaccctaaagttcag
atcaacgccatttgcagtcagtggctacccatatcccatgctgttcttgctatggtgtgt
cagaaacttcctagtccccttgatattacagctgagagagtggagagactgatgtgcaca
ggatcacaaacttttgactcttttccaccagaaactcaagcactgaaagcagcttttatg
aaatgtggaagtgaggacactgctccagttattatatttgtttccaaaatgtttgcagtt
gatgctaaggccttgcctcagaataagccaaggcctctcactcaagaagaaattgctcag
agacgtgagcgtgcaagacaaaggcatgcagagaagcttgcagcagcacagggacaggca
cccttggagcccacccaagatgggagtgccattgaaacatgtccaaaaggagaggagcca
agaggtgacgagcaacaggtggaaagtatgacccctaaacctgtgctccaggaagaaaac
aaccaagagtcttttattgcatttgctcgggtgttcagtggtgtggctcgaagaggaaag
aaaatttttgtcttggggcccaaatacagtcctcttgagtttttacgaagggtaccatta
ggcttctcagctccaccagatggcctcccccaagtcccccacatggcatactgtgctctg
gaaaacctgtatcttctgatgggaagggaactggaatatctagaggaggtacctccagga
aatgtgctaggaataggaggccttcaagattttgtgctgaaatctgcaacactgtgtagc
ctgccatcctgcccaccatttataccactcaacttcgaagccactcctattgtgagagtt
gctgttgaaccaaaacatccaagtgaaatgcctcagctcgtaaaaggaatgaaactgtta
aaccaggctgatccctgtgtccagattttaattcaggaaacgggagagcacgttttagtc
acagcaggagaagtccaccttcagcgatgcctggatgacttaaaagaaaggtttgcaaag
attcatatcagtgtatctgaacctattattccattcagagaaacaatcacaaaaccccca
aaagttgacatggtcaatgaagaaataggcaaacagcaaaaagttgcagtcatacaccaa
atgaaagaagatcaaagcaaaatccctgaaggaatccaagttgactctgacgggctaatc
accataacaactcccaataaacttgccacgctcagtgttcgagccatgccccttccagaa
gaagtcacccagattctggaagaaaatagtgatttgattcgttctatggagcagttgaca
tcctctttgaatgagggtgaaaatactcacatgattcatcagaagacccaagagaaaatt
tgggaattcaaaggaaaactggagcaacacctaacagggagaagatggaggaacattgtt
gaccaaatctggtcatttggcccaagaaaatgtgggcccaacatactagtcaataaaagt
gaagattttcagaactcagtatggacaggtccagctgacaaagcttcaaaagaagccagt
agataccgagatttgggcaatagcattgtgagtggcttccaactagcaaccctctctggc
cccatgtgtgaggagcctctcatgggtgtctgttttgttctggaaaaatgggacctaagt
aaatttgaggaacaaggagcaagtgatctggcaaaagagggacaggaggaaaatgaaacc
tgttctggtggaaatgaaaaccaagagctacaagatggctgctctgaggcctttgagaag
aggacatcacagaaaggagaatctccactcactgactgctatggacctttctcaggacag
ctaattgccaccatgaaagaagcatgtcgctatgcactgcaagtgaaacctcagcgcctg
atggcagctatgtacacatgtgacatcatggccactggtgatgttctcggtcgagtctat
gctgtcttgtcaaagagagaaggtcgggtacttcaagaagaaatgaaagaagggacagac
atgttcatcatcaaggctgtgctgcctgttgctgaaagctttggttttgctgatgaaatc
aggaagaggacaagtggcctggccagcccacaactagtattcagccattgggagatcatt
cccagtgaccccttctgggtgccaactactgaggaggaatacttgcactttggggagaag
gctgactctgagaaccaagcccggaagtacatgaacgcagtacgaaagcggaaggggctt
tatgtggaagaaaagattgtggagcatgcagaaaagcagaggacactcagcaaaaataag
tag

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