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2024-03-28 22:59:30, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_024580               3685 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens elongation factor Tu GTP binding domain containing 1
            (EFTUD1), transcript variant 1, mRNA.
ACCESSION   NM_024580
VERSION     NM_024580.5  GI:111120335
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 3685)
  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 3685)
  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 3685)
  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:94966753.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056656.1, AK300348.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AC026624.8         24868-24980
            114-1602            BC014628.2         1-1489
            1603-1603           AC026624.8         67543-67543
            1604-2526           BC014628.2         1491-2413
            2527-3025           AC026956.20        208965-209463       c
            3026-3675           BC014628.2         2914-3563
            3676-3685           AC026956.20        187587-187596       c
FEATURES             Location/Qualifiers
     source          1..3685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..3685
                     /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..3532
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_078856.4"
                     /db_xref="GI:94966754"
                     /db_xref="CCDS:CCDS42071.1"
                     /db_xref="GeneID:79631"
                     /db_xref="HGNC:25789"
                     /translation="
MVLNSLDKMIQLQKNTANIRNICVLAHVDHGKTTLADCLISSNGIISSRLAGKLRYMDSREDEQIRGITMKSSAISLHYATGNEEYLINLIDSPGHVDFSSEVSTAVRICDGCIIVVDAVEGVCPQTQAVLRQAWLENIRPVLVINKIDRLIVELKFTPQEAYSHLKNILEQINALTGTLFTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDTDDSHLYFSPEQGNVVFTSAIDGWGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILENIWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVCQKLPSPLDITAERVERLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAVDAKALPQNKPRPLTQEEIAQRRERARQRHAEKLAAAQGQAPLEPTQDGSAIETCPKGEEPRGDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVLGPKYSPLEFLRRVPLGFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPEGIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK
"
     misc_feature    227..928
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="Elongation Factor 2 (EF2) in archaea and eukarya;
                     Region: EF2; cd01885"
                     /db_xref="CDD:206672"
     misc_feature    245..268
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="G1 box; other site"
                     /db_xref="CDD:206672"
     misc_feature    order(248..250,254..256,266..271,278..280,287..292,
                     386..391,455..460,527..532,659..661,671..673)
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="putative GEF interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206672"
     misc_feature    order(254..271,605..610,614..616,875..883)
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="GTP/Mg2+ binding site [chemical binding]; other
                     site"
                     /db_xref="CDD:206672"
     misc_feature    329..388
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="Switch I region; other site"
                     /db_xref="CDD:206672"
     misc_feature    374..376
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="G2 box; other site"
                     /db_xref="CDD:206672"
     misc_feature    443..454
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="G3 box; other site"
                     /db_xref="CDD:206672"
     misc_feature    449..505
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="Switch II region; other site"
                     /db_xref="CDD:206672"
     misc_feature    605..616
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="G4 box; other site"
                     /db_xref="CDD:206672"
     misc_feature    875..883
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /note="G5 box; other site"
                     /db_xref="CDD:206672"
     misc_feature    1628..1972
                     /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    1751..1753
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q7Z2Z2.2); acetylation site"
     misc_feature    2228..3127
                     /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    3116..3352
                     /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..328
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            329..413
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            414..547
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     variation       472
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11548681"
     exon            548..685
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            686..900
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            901..1024
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1025..1101
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1102..1238
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1239..1361
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1362..1461
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1402
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2651721"
     exon            1462..1613
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1603
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2292189"
     exon            1614..1780
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1781..1919
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            1920..2051
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2018
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1128431"
     exon            2052..2199
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            2200..3158
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     STS             2287..2376
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /standard_name="1990"
                     /db_xref="UniSTS:69585"
     STS             2974..3094
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /standard_name="G54067"
                     /db_xref="UniSTS:109449"
     variation       3025
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4725"
     exon            3159..3343
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     exon            3344..3685
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /inference="alignment:Splign:1.39.8"
     STS             3518..3639
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /standard_name="A007G38"
                     /db_xref="UniSTS:16322"
     STS             3531..3658
                     /gene="EFTUD1"
                     /gene_synonym="FAM42A; HsT19294; RIA1"
                     /standard_name="SGC30254"
                     /db_xref="UniSTS:19780"
ORIGIN      
agagacgtgcgggtgaaaggtcgagcgacagccggccccgccccctggcgcgcgggcgtgtcggacccgcagagctctcggactttcggaagctctcggtgtgggtgcgacccgagagaaggagcggggctggtggggctgctgcagccgtcacaggaaataagtaatcatggtgctcaacagtttggataagatgattcaactccagaaaaacactgccaacatcaggaatatttgtgttttggctcatgttgaccatggaaaaactactctggctgactgtcttatatctagcaatggaatcatctccagccgcctagcaggcaagttaaggtacatggacagcagagaagatgaacagatccgagggatcactatgaaatccagtgccatttccctacattatgcaacaggtaatgaggagtacctgatcaatctgatagactctccaggacacgtggacttttcctcagaagtatcaaccgctgttcgcatttgtgatggatgcatcattgtggtagatgctgtggaaggagtctgtccacagacacaggcagttctgcgacaagcttggcttgaaaacatccgtccggttttagtgattaataagattgatcgcttgatagtggaactgaaattcaccccacaagaggcctattctcacctcaagaatattttagaacagattaatgcgctcacagggactctttttacttctaaagtcctagaagaaagagcagagagggagactgaatcccaagtgaatccaaattctgaacaaggagagcaagtatatgactggagcactggcttggaggacacagatgattctcacctttacttctctccagaacagggaaatgtggtgtttaccagtgcaatagatgggtggggctttggaattgagcacttcgccagaatctacagtcaaaaaattggcatcaaaaaggaagttcttatgaaaaccttgtggggagattactatataaatatgaaggctaaaaagatcatgaagggtgatcaggccaaaggaaagaaacctttatttgtacagttgatcctggaaaatatatggagtttgtatgatgctgttttgaaaaaggacaaagacaaaattgataaaatagtgacttctttaggattaaaaattggagcccgggaggcacgacattcagaccctaaagttcagatcaacgccatttgcagtcagtggctacccatatcccatgctgttcttgctatggtgtgtcagaaacttcctagtccccttgatattacagctgagagagtggagagactgatgtgcacaggatcacaaacttttgactcttttccaccagaaactcaagcactgaaagcagcttttatgaaatgtggaagtgaggacactgctccagttattatatttgtttccaaaatgtttgcagttgatgctaaggccttgcctcagaataagccaaggcctctcactcaagaagaaattgctcagagacgtgagcgtgcaagacaaaggcatgcagagaagcttgcagcagcacagggacaggcacccttggagcccacccaagatgggagtgccattgaaacatgtccaaaaggagaggagccaagaggtgacgagcaacaggtggaaagtatgacccctaaacctgtgctccaggaagaaaacaaccaagagtcttttattgcatttgctcgggtgttcagtggtgtggctcgaagaggaaagaaaatttttgtcttggggcccaaatacagtcctcttgagtttttacgaagggtaccattaggcttctcagctccaccagatggcctcccccaagtcccccacatggcatactgtgctctggaaaacctgtatcttctgatgggaagggaactggaatatctagaggaggtacctccaggaaatgtgctaggaataggaggccttcaagattttgtgctgaaatctgcaacactgtgtagcctgccatcctgcccaccatttataccactcaacttcgaagccactcctattgtgagagttgctgttgaaccaaaacatccaagtgaaatgcctcagctcgtaaaaggaatgaaactgttaaaccaggctgatccctgtgtccagattttaattcaggaaacgggagagcacgttttagtcacagcaggagaagtccaccttcagcgatgcctggatgacttaaaagaaaggtttgcaaagattcatatcagtgtatctgaacctattattccattcagagaaacaatcacaaaacccccaaaagttgacatggtcaatgaagaaataggcaaacagcaaaaagttgcagtcatacaccaaatgaaagaagatcaaagcaaaatccctgaaggaatccaagttgactctgacgggctaatcaccataacaactcccaataaacttgccacgctcagtgttcgagccatgccccttccagaagaagtcacccagattctggaagaaaatagtgatttgattcgttctatggagcagttgacatcctctttgaatgagggtgaaaatactcacatgattcatcagaagacccaagagaaaatttgggaattcaaaggaaaactggagcaacacctaacagggagaagatggaggaacattgttgaccaaatctggtcatttggcccaagaaaatgtgggcccaacatactagtcaataaaagtgaagattttcagaactcagtatggacaggtccagctgacaaagcttcaaaagaagccagtagataccgagatttgggcaatagcattgtgagtggcttccaactagcaaccctctctggccccatgtgtgaggagcctctcatgggtgtctgttttgttctggaaaaatgggacctaagtaaatttgaggaacaaggagcaagtgatctggcaaaagagggacaggaggaaaatgaaacctgttctggtggaaatgaaaaccaagagctacaagatggctgctctgaggcctttgagaagaggacatcacagaaaggagaatctccactcactgactgctatggacctttctcaggacagctaattgccaccatgaaagaagcatgtcgctatgcactgcaagtgaaacctcagcgcctgatggcagctatgtacacatgtgacatcatggccactggtgatgttctcggtcgagtctatgctgtcttgtcaaagagagaaggtcgggtacttcaagaagaaatgaaagaagggacagacatgttcatcatcaaggctgtgctgcctgttgctgaaagctttggttttgctgatgaaatcaggaagaggacaagtggcctggccagcccacaactagtattcagccattgggagatcattcccagtgaccccttctgggtgccaactactgaggaggaatacttgcactttggggagaaggctgactctgagaaccaagcccggaagtacatgaacgcagtacgaaagcggaaggggctttatgtggaagaaaagattgtggagcatgcagaaaagcagaggacactcagcaaaaataagtagctacctactactggtggattcttttccttatagtgaatttaaaagtatcatcaagggtttaatattgggaaaatttctttttgccacattatctctgtttattcactttcaataaagttgatccatataaatattttaaagaggatgttagag
//

Annotations:

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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