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2025-05-09 20:03:34, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040610 3532 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens elongation factor Tu GTP binding domain containing 1
(EFTUD1), transcript variant 2, mRNA.
ACCESSION NM_001040610
VERSION NM_001040610.2 GI:111120340
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3532)
AUTHORS Dong,C., Beecham,A., Slifer,S., Wang,L., Blanton,S.H., Wright,C.B.,
Rundek,T. and Sacco,R.L.
TITLE Genomewide linkage and peakwide association analyses of carotid
plaque in Caribbean Hispanics
JOURNAL Stroke 41 (12), 2750-2756 (2010)
PUBMED 20966410
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 3532)
AUTHORS Nicolas,E., Poitelon,Y., Chouery,E., Salem,N., Levy,N.,
Megarbane,A. and Delague,V.
TITLE CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar
ataxia, is caused by a mutant zinc-finger protein, ZNF592
JOURNAL Eur. J. Hum. Genet. 18 (10), 1107-1113 (2010)
PUBMED 20531441
REFERENCE 3 (bases 1 to 3532)
AUTHORS Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
Offenbacher,J., Danzig,J. and Ducar,M.
TITLE Creation of genome-wide protein expression libraries using random
activation of gene expression
JOURNAL Nat. Biotechnol. 19 (5), 440-445 (2001)
PUBMED 11329013
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC026624.8, BC014628.2 and AC026956.20.
On Aug 3, 2006 this sequence version replaced gi:94966751.
Transcript Variant: This variant (2) lacks two in-frame exons in
the 5' coding region, compared to variant 1, which results in a
shorter protein (isoform 2), compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: BX538332.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-113 AC026624.8 24868-24980
114-260 BC014628.2 1-147
261-1449 BC014628.2 301-1489
1450-1450 AC026624.8 67543-67543
1451-2373 BC014628.2 1491-2413
2374-2872 AC026956.20 208965-209463 c
2873-3522 BC014628.2 2914-3563
3523-3532 AC026956.20 187587-187596 c
FEATURES Location/Qualifiers
source 1..3532
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q25.2"
gene 1..3532
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="elongation factor Tu GTP binding domain containing
1"
/db_xref="GeneID:79631"
/db_xref="HGNC:25789"
exon 1..150
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 151..260
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
misc_feature 161..163
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="upstream in-frame stop codon"
CDS 170..3379
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="isoform 2 is encoded by transcript variant 2;
ribosome assembly 1 homolog; elongation factor Tu
GTP-binding domain-containing protein 1; elongation
factor-like 1"
/codon_start=1
/product="elongation factor Tu GTP-binding
domain-containing protein 1 isoform 2"
/protein_id="NP_001035700.1"
/db_xref="GI:94966752"
/db_xref="CCDS:CCDS42070.1"
/db_xref="GeneID:79631"
/db_xref="HGNC:25789"
/translation="
MVLNSLDKMIQLQKNTANIRNICVLAHVDHGNEEYLINLIDSPGHVDFSSEVSTAVRICDGCIIVVDAVEGVCPQTQAVLRQAWLENIRPVLVINKIDRLIVELKFTPQEAYSHLKNILEQINALTGTLFTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDTDDSHLYFSPEQGNVVFTSAIDGWGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILENIWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVCQKLPSPLDITAERVERLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAVDAKALPQNKPRPLTQEEIAQRRERARQRHAEKLAAAQGQAPLEPTQDGSAIETCPKGEEPRGDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVLGPKYSPLEFLRRVPLGFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPEGIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK
"
misc_feature 227..>262
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="P-loop containing Nucleoside Triphosphate
Hydrolases; Region: P-loop_NTPase; cl09099"
/db_xref="CDD:213113"
misc_feature 245..262
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="G1 box; other site"
/db_xref="CDD:206648"
misc_feature <263..775
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="P-loop containing Nucleoside Triphosphate
Hydrolases; Region: P-loop_NTPase; cl09099"
/db_xref="CDD:213113"
misc_feature 290..301
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="G3 box; other site"
/db_xref="CDD:206648"
misc_feature order(296..301,347..352)
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="Switch II region; other site"
/db_xref="CDD:206648"
misc_feature order(299..301,452..457,461..463,722..730)
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="GTP/Mg2+ binding site [chemical binding]; other
site"
/db_xref="CDD:206648"
misc_feature 452..463
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="G4 box; other site"
/db_xref="CDD:206648"
misc_feature 722..730
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="G5 box; other site"
/db_xref="CDD:206648"
misc_feature 1475..1819
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="EF2_snRNP_like_II: this subfamily represents domain
II of elongation factor (EF) EF-2 found eukaryotes and
archaea and, the C-terminal portion of the spliceosomal
human 116kD U5 small nuclear ribonucleoprotein (snRNP)
protein (U5-116 kD) and, its yeast...; Region:
eEF2_snRNP_like_II; cd03700"
/db_xref="CDD:58091"
misc_feature 2075..2974
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="This family represents domain IV of archaeal and
eukaryotic elongation factor 2 (aeEF-2) and of an
evolutionarily conserved U5 snRNP-specific protein. U5
snRNP is a GTP-binding factor closely related to the
ribosomal translocase EF-2. In complex with GTP; Region:
aeEF2_snRNP_like_IV; cd01681"
/db_xref="CDD:58276"
misc_feature 2963..3199
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/note="eEF2_snRNP_like_C: this family represents a
C-terminal domain of eukaryotic elongation factor 2
(eEF-2) and a homologous domain of the spliceosomal human
116kD U5 small nuclear ribonucleoprotein (snRNP) protein
(U5-116 kD) and, its yeast counterpart...; Region:
eEF2_snRNP_like_C; cd04096"
/db_xref="CDD:58066"
exon 261..394
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
variation 319
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:11548681"
exon 395..532
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 533..747
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 748..871
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 872..948
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 949..1085
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 1086..1208
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 1209..1308
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
variation 1249
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2651721"
exon 1309..1460
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
variation 1450
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2292189"
exon 1461..1627
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 1628..1766
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 1767..1898
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
variation 1865
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128431"
exon 1899..2046
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 2047..3005
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
STS 2134..2223
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/standard_name="1990"
/db_xref="UniSTS:69585"
STS 2821..2941
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/standard_name="G54067"
/db_xref="UniSTS:109449"
variation 2872
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:4725"
exon 3006..3190
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
exon 3191..3532
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/inference="alignment:Splign:1.39.8"
STS 3365..3486
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/standard_name="A007G38"
/db_xref="UniSTS:16322"
STS 3378..3505
/gene="EFTUD1"
/gene_synonym="FAM42A; HsT19294; RIA1"
/standard_name="SGC30254"
/db_xref="UniSTS:19780"
ORIGIN
agagacgtgcgggtgaaaggtcgagcgacagccggccccgccccctggcgcgcgggcgtgtcggacccgcagagctctcggactttcggaagctctcggtgtgggtgcgacccgagagaaggagcggggctggtggggctgctgcagccgtcacaggaaataagtaatcatggtgctcaacagtttggataagatgattcaactccagaaaaacactgccaacatcaggaatatttgtgttttggctcatgttgaccatggtaatgaggagtacctgatcaatctgatagactctccaggacacgtggacttttcctcagaagtatcaaccgctgttcgcatttgtgatggatgcatcattgtggtagatgctgtggaaggagtctgtccacagacacaggcagttctgcgacaagcttggcttgaaaacatccgtccggttttagtgattaataagattgatcgcttgatagtggaactgaaattcaccccacaagaggcctattctcacctcaagaatattttagaacagattaatgcgctcacagggactctttttacttctaaagtcctagaagaaagagcagagagggagactgaatcccaagtgaatccaaattctgaacaaggagagcaagtatatgactggagcactggcttggaggacacagatgattctcacctttacttctctccagaacagggaaatgtggtgtttaccagtgcaatagatgggtggggctttggaattgagcacttcgccagaatctacagtcaaaaaattggcatcaaaaaggaagttcttatgaaaaccttgtggggagattactatataaatatgaaggctaaaaagatcatgaagggtgatcaggccaaaggaaagaaacctttatttgtacagttgatcctggaaaatatatggagtttgtatgatgctgttttgaaaaaggacaaagacaaaattgataaaatagtgacttctttaggattaaaaattggagcccgggaggcacgacattcagaccctaaagttcagatcaacgccatttgcagtcagtggctacccatatcccatgctgttcttgctatggtgtgtcagaaacttcctagtccccttgatattacagctgagagagtggagagactgatgtgcacaggatcacaaacttttgactcttttccaccagaaactcaagcactgaaagcagcttttatgaaatgtggaagtgaggacactgctccagttattatatttgtttccaaaatgtttgcagttgatgctaaggccttgcctcagaataagccaaggcctctcactcaagaagaaattgctcagagacgtgagcgtgcaagacaaaggcatgcagagaagcttgcagcagcacagggacaggcacccttggagcccacccaagatgggagtgccattgaaacatgtccaaaaggagaggagccaagaggtgacgagcaacaggtggaaagtatgacccctaaacctgtgctccaggaagaaaacaaccaagagtcttttattgcatttgctcgggtgttcagtggtgtggctcgaagaggaaagaaaatttttgtcttggggcccaaatacagtcctcttgagtttttacgaagggtaccattaggcttctcagctccaccagatggcctcccccaagtcccccacatggcatactgtgctctggaaaacctgtatcttctgatgggaagggaactggaatatctagaggaggtacctccaggaaatgtgctaggaataggaggccttcaagattttgtgctgaaatctgcaacactgtgtagcctgccatcctgcccaccatttataccactcaacttcgaagccactcctattgtgagagttgctgttgaaccaaaacatccaagtgaaatgcctcagctcgtaaaaggaatgaaactgttaaaccaggctgatccctgtgtccagattttaattcaggaaacgggagagcacgttttagtcacagcaggagaagtccaccttcagcgatgcctggatgacttaaaagaaaggtttgcaaagattcatatcagtgtatctgaacctattattccattcagagaaacaatcacaaaacccccaaaagttgacatggtcaatgaagaaataggcaaacagcaaaaagttgcagtcatacaccaaatgaaagaagatcaaagcaaaatccctgaaggaatccaagttgactctgacgggctaatcaccataacaactcccaataaacttgccacgctcagtgttcgagccatgccccttccagaagaagtcacccagattctggaagaaaatagtgatttgattcgttctatggagcagttgacatcctctttgaatgagggtgaaaatactcacatgattcatcagaagacccaagagaaaatttgggaattcaaaggaaaactggagcaacacctaacagggagaagatggaggaacattgttgaccaaatctggtcatttggcccaagaaaatgtgggcccaacatactagtcaataaaagtgaagattttcagaactcagtatggacaggtccagctgacaaagcttcaaaagaagccagtagataccgagatttgggcaatagcattgtgagtggcttccaactagcaaccctctctggccccatgtgtgaggagcctctcatgggtgtctgttttgttctggaaaaatgggacctaagtaaatttgaggaacaaggagcaagtgatctggcaaaagagggacaggaggaaaatgaaacctgttctggtggaaatgaaaaccaagagctacaagatggctgctctgaggcctttgagaagaggacatcacagaaaggagaatctccactcactgactgctatggacctttctcaggacagctaattgccaccatgaaagaagcatgtcgctatgcactgcaagtgaaacctcagcgcctgatggcagctatgtacacatgtgacatcatggccactggtgatgttctcggtcgagtctatgctgtcttgtcaaagagagaaggtcgggtacttcaagaagaaatgaaagaagggacagacatgttcatcatcaaggctgtgctgcctgttgctgaaagctttggttttgctgatgaaatcaggaagaggacaagtggcctggccagcccacaactagtattcagccattgggagatcattcccagtgaccccttctgggtgccaactactgaggaggaatacttgcactttggggagaaggctgactctgagaaccaagcccggaagtacatgaacgcagtacgaaagcggaaggggctttatgtggaagaaaagattgtggagcatgcagaaaagcagaggacactcagcaaaaataagtagctacctactactggtggattcttttccttatagtgaatttaaaagtatcatcaagggtttaatattgggaaaatttctttttgccacattatctctgtttattcactttcaataaagttgatccatataaatattttaaagaggatgttagag
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:79631 -> Molecular function: GO:0003746 [translation elongation factor activity] evidence: IEA
GeneID:79631 -> Molecular function: GO:0003924 [GTPase activity] evidence: IDA
GeneID:79631 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA
GeneID:79631 -> Molecular function: GO:0043022 [ribosome binding] evidence: IMP
GeneID:79631 -> Biological process: GO:0006184 [GTP catabolic process] evidence: IDA
GeneID:79631 -> Biological process: GO:0042256 [mature ribosome assembly] evidence: IMP
by
@meso_cacase at
DBCLS
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