2025-05-09 18:43:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006620 7163 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA. ACCESSION NM_006620 VERSION NM_006620.3 GI:194578914 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 7163) AUTHORS Li,J., Glessner,J.T., Zhang,H., Hou,C., Wei,Z., Bradfield,J.P., Mentch,F.D., Guo,Y., Kim,C., Xia,Q., Chiavacci,R.M., Thomas,K.A., Qiu,H., Grant,S.F., Furth,S.L., Hakonarson,H. and Sleiman,P.M. TITLE GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children JOURNAL Hum. Mol. Genet. 22 (7), 1457-1464 (2013) PUBMED 23263863 REFERENCE 2 (bases 1 to 7163) AUTHORS Menzel,S., Garner,C., Rooks,H., Spector,T.D. and Thein,S.L. TITLE HbA2 levels in normal adults are influenced by two distinct genetic mechanisms JOURNAL Br. J. Haematol. 160 (1), 101-105 (2013) PUBMED 23043469 REFERENCE 3 (bases 1 to 7163) AUTHORS van der Harst,P., Zhang,W., Mateo Leach,I., Rendon,A., Verweij,N., Sehmi,J., Paul,D.S., Elling,U., Allayee,H., Li,X., Radhakrishnan,A., Tan,S.T., Voss,K., Weichenberger,C.X., Albers,C.A., Al-Hussani,A., Asselbergs,F.W., Ciullo,M., Danjou,F., Dina,C., Esko,T., Evans,D.M., Franke,L., Gogele,M., Hartiala,J., Hersch,M., Holm,H., Hottenga,J.J., Kanoni,S., Kleber,M.E., Lagou,V., Langenberg,C., Lopez,L.M., Lyytikainen,L.P., Melander,O., Murgia,F., Nolte,I.M., O'Reilly,P.F., Padmanabhan,S., Parsa,A., Pirastu,N., Porcu,E., Portas,L., Prokopenko,I., Ried,J.S., Shin,S.Y., Tang,C.S., Teumer,A., Traglia,M., Ulivi,S., Westra,H.J., Yang,J., Zhao,J.H., Anni,F., Abdellaoui,A., Attwood,A., Balkau,B., Bandinelli,S., Bastardot,F., Benyamin,B., Boehm,B.O., Cookson,W.O., Das,D., de Bakker,P.I., de Boer,R.A., de Geus,E.J., de Moor,M.H., Dimitriou,M., Domingues,F.S., Doring,A., Engstrom,G., Eyjolfsson,G.I., Ferrucci,L., Fischer,K., Galanello,R., Garner,S.F., Genser,B., Gibson,Q.D., Girotto,G., Gudbjartsson,D.F., Harris,S.E., Hartikainen,A.L., Hastie,C.E., Hedblad,B., Illig,T., Jolley,J., Kahonen,M., Kema,I.P., Kemp,J.P., Liang,L., Lloyd-Jones,H., Loos,R.J., Meacham,S., Medland,S.E., Meisinger,C., Memari,Y., Mihailov,E., Miller,K., Moffatt,M.F., Nauck,M., Novatchkova,M., Nutile,T., Olafsson,I., Onundarson,P.T., Parracciani,D., Penninx,B.W., Perseu,L., Piga,A., Pistis,G., Pouta,A., Puc,U., Raitakari,O., Ring,S.M., Robino,A., Ruggiero,D., Ruokonen,A., Saint-Pierre,A., Sala,C., Salumets,A., Sambrook,J., Schepers,H., Schmidt,C.O., Sillje,H.H., Sladek,R., Smit,J.H., Starr,J.M., Stephens,J., Sulem,P., Tanaka,T., Thorsteinsdottir,U., Tragante,V., van Gilst,W.H., van Pelt,L.J., van Veldhuisen,D.J., Volker,U., Whitfield,J.B., Willemsen,G., Winkelmann,B.R., Wirnsberger,G., Algra,A., Cucca,F., d'Adamo,A.P., Danesh,J., Deary,I.J., Dominiczak,A.F., Elliott,P., Fortina,P., Froguel,P., Gasparini,P., Greinacher,A., Hazen,S.L., Jarvelin,M.R., Khaw,K.T., Lehtimaki,T., Maerz,W., Martin,N.G., Metspalu,A., Mitchell,B.D., Montgomery,G.W., Moore,C., Navis,G., Pirastu,M., Pramstaller,P.P., Ramirez-Solis,R., Schadt,E., Scott,J., Shuldiner,A.R., Smith,G.D., Smith,J.G., Snieder,H., Sorice,R., Spector,T.D., Stefansson,K., Stumvoll,M., Tang,W.H., Toniolo,D., Tonjes,A., Visscher,P.M., Vollenweider,P., Wareham,N.J., Wolffenbuttel,B.H., Boomsma,D.I., Beckmann,J.S., Dedoussis,G.V., Deloukas,P., Ferreira,M.A., Sanna,S., Uda,M., Hicks,A.A., Penninger,J.M., Gieger,C., Kooner,J.S., Ouwehand,W.H., Soranzo,N. and Chambers,J.C. TITLE Seventy-five genetic loci influencing the human red blood cell JOURNAL Nature 492 (7429), 369-375 (2012) PUBMED 23222517 REFERENCE 4 (bases 1 to 7163) AUTHORS Bae,H.T., Baldwin,C.T., Sebastiani,P., Telen,M.J., Ashley-Koch,A., Garrett,M., Hooper,W.C., Bean,C.J., Debaun,M.R., Arking,D.E., Bhatnagar,P., Casella,J.F., Keefer,J.R., Barron-Casella,E., Gordeuk,V., Kato,G.J., Minniti,C., Taylor,J., Campbell,A., Luchtman-Jones,L., Hoppe,C., Gladwin,M.T., Zhang,Y. and Steinberg,M.H. TITLE Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans JOURNAL Blood 120 (9), 1961-1962 (2012) PUBMED 22936743 REMARK GeneRIF: Studies indicate that single nucleotide polymorphisms (SNPs) in regions of BCL11A and HBS1L-MYB intergenic polymorphism are the major modifiers of HbF in African Americans. REFERENCE 5 (bases 1 to 7163) AUTHORS Qayyum,R., Snively,B.M., Ziv,E., Nalls,M.A., Liu,Y., Tang,W., Yanek,L.R., Lange,L., Evans,M.K., Ganesh,S., Austin,M.A., Lettre,G., Becker,D.M., Zonderman,A.B., Singleton,A.B., Harris,T.B., Mohler,E.R., Logsdon,B.A., Kooperberg,C., Folsom,A.R., Wilson,J.G., Becker,L.C. and Reiner,A.P. TITLE A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans JOURNAL PLoS Genet. 8 (3), E1002491 (2012) PUBMED 22423221 REFERENCE 6 (bases 1 to 7163) AUTHORS Lettre,G., Sankaran,V.G., Bezerra,M.A., Araujo,A.S., Uda,M., Sanna,S., Cao,A., Schlessinger,D., Costa,F.F., Hirschhorn,J.N. and Orkin,S.H. TITLE DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease JOURNAL Proc. Natl. Acad. Sci. U.S.A. 105 (33), 11869-11874 (2008) PUBMED 18667698 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 7163) AUTHORS Menzel,S., Jiang,J., Silver,N., Gallagher,J., Cunningham,J., Surdulescu,G., Lathrop,M., Farrall,M., Spector,T.D. and Thein,S.L. TITLE The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans JOURNAL Blood 110 (10), 3624-3626 (2007) PUBMED 17712044 REMARK GeneRIF: The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts. REFERENCE 8 (bases 1 to 7163) AUTHORS Thein,S.L., Menzel,S., Peng,X., Best,S., Jiang,J., Close,J., Silver,N., Gerovasilli,A., Ping,C., Yamaguchi,M., Wahlberg,K., Ulug,P., Spector,T.D., Garner,C., Matsuda,F., Farrall,M. and Lathrop,M. TITLE Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults JOURNAL Proc. Natl. Acad. Sci. U.S.A. 104 (27), 11346-11351 (2007) PUBMED 17592125 REMARK GeneRIF: HBS1L-related genetic variants play a key role in control of fetal hemoglobin levels. REFERENCE 9 (bases 1 to 7163) AUTHORS Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L., Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E., Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J., Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O., Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J., Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M., Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K., Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J., Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L., Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P., Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J., Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M., Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L., Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R., Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M., King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J., Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L., McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J., Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K., Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I., Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y., Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K., Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L., Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J., Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S., Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E., Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M., Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Dunham,I., Rogers,J. and Beck,S. TITLE The DNA sequence and analysis of human chromosome 6 JOURNAL Nature 425 (6960), 805-811 (2003) PUBMED 14574404 REFERENCE 10 (bases 1 to 7163) AUTHORS Wallrapp,C., Verrier,S.B., Zhouravleva,G., Philippe,H., Philippe,M., Gress,T.M. and Jean-Jean,O. TITLE The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity JOURNAL FEBS Lett. 440 (3), 387-392 (1998) PUBMED 9872408 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB051030.1, BC001465.2 and AL445190.9. This sequence is a reference standard in the RefSeqGene project. On Jul 29, 2008 this sequence version replaced gi:24431963. Summary: This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ459826.1, AK024258.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-91 DB051030.1 1-91 92-2407 BC001465.2 1-2316 2408-7163 AL445190.9 21070-25825 c FEATURES Location/Qualifiers source 1..7163 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6q23.3" gene 1..7163 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="HBS1-like (S. cerevisiae)" /db_xref="GeneID:10767" /db_xref="HGNC:4834" /db_xref="HPRD:06582" /db_xref="MIM:612450" exon 1..250 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" misc_feature 175..177 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="upstream in-frame stop codon" variation 177 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="c" /db_xref="dbSNP:112374595" variation 188 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="c" /db_xref="dbSNP:113123443" CDS 208..2262 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="isoform 1 is encoded by transcript variant 1; Hsp70 subfamily B suppressor 1-like protein; HBS1-like protein; ERF3-similar protein" /codon_start=1 /product="HBS1-like protein isoform 1" /protein_id="NP_006611.1" /db_xref="GI:5729864" /db_xref="CCDS:CCDS5173.1" /db_xref="GeneID:10767" /db_xref="HGNC:4834" /db_xref="HPRD:06582" /db_xref="MIM:612450" /translation="
MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE
" misc_feature 208..621 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="Domain of unknown function (DUF1916); Region: DUF1916; pfam08938" /db_xref="CDD:149872" misc_feature 373..375 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 379..381 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 556..558 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y450.1); phosphorylation site" misc_feature 586..588 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y450.1); phosphorylation site" misc_feature 973..2259 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]; Region: TEF1; COG5256" /db_xref="CDD:34853" misc_feature 991..1650 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="Elongation Factor 1-alpha (EF1-alpha) protein family; Region: EF1_alpha; cd01883" /db_xref="CDD:206670" misc_feature 1006..1029 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="G1 box; other site" /db_xref="CDD:206670" misc_feature order(1009..1011,1015..1017,1027..1032,1039..1041, 1048..1053,1192..1197,1249..1254,1321..1326,1465..1467, 1477..1479) /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="putative GEF interaction site [polypeptide binding]; other site" /db_xref="CDD:206670" misc_feature order(1015..1017,1021..1032,1423..1428,1432..1434, 1540..1548) /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="GTP/Mg2+ binding site [chemical binding]; other site" /db_xref="CDD:206670" misc_feature order(1027..1029,1156..1158,1165..1170,1174..1176, 1180..1182,1186..1194,1198..1200,1231..1233,1237..1239, 1243..1251,1255..1257,1264..1266) /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="EF1Balpha binding site [polypeptide binding]; other site" /db_xref="CDD:206670" misc_feature 1162..1194 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="Switch I region; other site" /db_xref="CDD:206670" misc_feature 1180..1182 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="G2 box; other site" /db_xref="CDD:206670" misc_feature 1237..1248 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="G3 box; other site" /db_xref="CDD:206670" misc_feature 1243..1299 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="Switch II region; other site" /db_xref="CDD:206670" misc_feature 1423..1434 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="G4 box; other site" /db_xref="CDD:206670" misc_feature 1540..1548 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="G5 box; other site" /db_xref="CDD:206670" misc_feature 1666..1914 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="eRF3_II_like: domain similar to domain II of the eukaryotic class II release factor (eRF3). In eukaryotes, translation termination is mediated by two interacting release factors, eRF1 and eRF3, which act as class I and II factors, respectively. eRF1...; Region: eRF3_II_like; cd03698" /db_xref="CDD:58089" misc_feature 1933..2253 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /note="HBS1_C: this family represents the C-terminal domain of Hsp70 subfamily B suppressor 1 (HBS1) which is homologous to the domain III of EF-1alpha. This group contains proteins similar to yeast Hbs1, a G protein known to be important for efficient growth...; Region: HBS1_C; cd04093" /db_xref="CDD:58075" variation 246 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="g" /replace="t" /db_xref="dbSNP:112424574" exon 251..316 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 309 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="g" /db_xref="dbSNP:35916433" exon 317..442 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 337 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:113665733" variation 370 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:113532184" variation 401 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="g" /db_xref="dbSNP:112702237" exon 443..637 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" STS 457..585 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /standard_name="PMC140821P3" /db_xref="UniSTS:270977" variation 613 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:113745241" exon 638..746 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 646 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:111758776" variation 657 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="g" /db_xref="dbSNP:35697718" variation 745 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:34860737" exon 747..1006 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1007..1172 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1173..1290 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1291..1437 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 1388 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:111422826" exon 1438..1512 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" STS 1463..1555 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /standard_name="HBS1L" /db_xref="UniSTS:504542" exon 1513..1630 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1631..1699 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1700..1804 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1805..1895 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 1896..2004 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" exon 2005..2105 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 2038 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:36025561" exon 2106..2250 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 2112 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:113089804" STS 2119..2250 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /standard_name="PMC140821P2" /db_xref="UniSTS:270976" variation 2160 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="c" /db_xref="dbSNP:1139174" variation 2222 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="c" /db_xref="dbSNP:113801496" exon 2251..7163 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /inference="alignment:Splign:1.39.8" variation 2362 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:112748112" variation 2498 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:113902835" STS 2673..2856 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /standard_name="RH46724" /db_xref="UniSTS:73570" STS 2708..2908 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /standard_name="HSC20G062" /db_xref="UniSTS:19610" polyA_signal 2885..2890 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" variation 2899 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="" /replace="g" /db_xref="dbSNP:111504247" polyA_site 2916 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" variation 3018 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:112465963" variation 3473 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:112290620" variation 3759 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:111768274" variation 4207 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:112529964" variation 4352 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:112911622" variation 4593 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="t" /db_xref="dbSNP:111639058" variation 4665 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="g" /db_xref="dbSNP:112518126" variation 5805 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:112112993" variation 5873 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:112795442" variation 6542 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:111288345" variation 6687 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="c" /replace="t" /db_xref="dbSNP:112150644" variation 6746 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:111520283" variation 6884 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:1135205" variation 6967 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:113666687" variation 7005 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:1135206" variation 7032 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="a" /replace="g" /db_xref="dbSNP:113255530" variation 7074..7075 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" /replace="" /replace="a" /db_xref="dbSNP:112383774" polyA_site 7163 /gene="HBS1L" /gene_synonym="EF-1a; ERFS; HBS1; HSPC276" ORIGIN
agggaggcggacagtgaccctgaggcattgccgtcgcgcggtgcacagctaagacgtcgcgcttgcgcaggcgctcggcgcagaggcctgcgggaagccaagatggcgcataggggttctccaggctgcagttggcgccttatcagtatctaagcggagtgttttggaaggagttaaggggctgtggcaaacgccctctccgccgtcatggcccggcatcggaatgttcgaggctataactacgatgaagattttgaagatgatgatctctacggccagtctgtagaggatgattattgtatttcgccgtcaacagctgctcagtttatttattcacggcgtgacaaaccttccgttgagcctgtggaagaatatgattatgaagatctgaaagaatcttccaattctgtttcaaaccatcagctcagtggatttgatcaagctcgtctttattcatgccttgatcacatgagagaggtacttggagatgctgtgccagatgaaatattaattgaagcagttctgaagaacaagtttgatgtgcagaaggctttgtcaggggttctggaacaagatagagtgcagagtttgaaggacaagaatgaggcaacagtatctacaggaaagatagcaaaaggaaaaccagtagattcccagacatcgcgaagtgaatctgaaattgtgccaaaagttgctaaaatgactgtatctggaaagaagcaaactatgggatttgaagtgcctggagtatcttctgaagaaaatggtcatagtttccacacacctcaaaaaggaccgcccattgaagatgccattgcttcttccgatgttcttgagactgcttctaaatctgctaatccaccccacacgattcaagcatcagaagagcagagttcaaccccagcaccggtgaaaaagtctggcaagctgaggcagcaaatagatgtgaaggcggaactggagaagcggcaaggagggaagcagctactcaacttagtggtcattggtcatgttgatgctgggaaaagtactctgatgggccatatgctttatcttctgggtaatataaacaaaagaactatgcataagtatgaacaggagtctaaaaaggctggcaaagcttcgtttgcatatgcatgggtcttggatgaaactggcgaagaaagggaaaggggagtaaccatggatgttggtatgacaaagtttgaaaccacaaccaaagttattacattaatggatgctccaggccataaggacttcattccaaatatgattacaggagcagcccaggcggatgtagctgttttagttgtagatgccagcaggggagagtttgaagctggatttgagactggaggacaaacacgagagcatggactcttggtccgttctctgggagtgacgcagcttgcagttgcagttaataaaatggatcaggttaattggcaacaagaaaggtttcaagagattactggaaaacttgggcactttcttaagcaagcaggttttaaggagagtgatgtaggttttattcctacaagtggtctcagtggtgaaaatctaatcacaagatctcagtcaagtgaactcacaaaatggtataaaggactatgtttattagaacaaattgattcctttaagcctccccagcgatctattgacaaaccttttagattatgtgtgtccgatgttttcaaagatcaaggatctggattttgcataactggtaaaatagaagctggttatatccaaactggtgaccgactactggcaatgcctcctaatgaaacttgtaccgtgaaaggaatcactctgcatgatgaacctgtcgactgggcggcagcaggcgatcatgttagtcttactttggttgggatggatatcatcaaaatcaatgttggctgcatattttgtggccccaaagtacccattaaagcttgcactcgtttcagagcccgaatcctcatctttaatattgaaattcctatcactaaaggatttcctgtgctgttacactaccaaactgtcagtgaacccgccgttattaaacgattgattagtgtcttaaacaaaagcacgggtgaagtcacaaagaaaaagcctaagtttttgactaaaggccagaatgcattggtagagctacagacacaaagaccaatagctcttgagctatataaagactttaaagagctggggaggttcatgctacgttacggtggttctacaatagctgctggtgttgtcactgagataaaagaatgatgggtcagaatttctaccacgtttctggatacagtgaaatagctaacctctgtttcaagaatgcagttattaagtcaaaggaacaatgtgcaattgatatgtttttagatgagagagaaaaattaaagctaaaattagctgcaaagaagtattaataatcacctctgcaaaaattctaagttgccaactggcaaagaaagtctaatgttaaaaacaactttgcctttgaaacgttaataaatggatttactttgctaagatttatggcaagtgtcaaaaatagtatctgaagatactgaatcatcatgaaatgaactctacttctggccaaagcacaatgtatttgcagttttctcttttgattcaattatactgcacatgttttaaggaaaagtaacttaattgggtttttcaggcagttgatatttgacctaagctttttttttttttttttttccagttaatgctaagaaaagatttggggaaggttataataaaagtattttgtggtgaccataagaatgtccctccccaaacaagtaaacttgtgaaagtttaatttggaattagtggaagctgttcctttgaaagccaagatattatttaagttgtaaagccagctaataaaatgccttagtttgagcataatacaaactgtgttttgttctttagacatttatgagattctctgccactaacagtaaatatgatttaggggttttgtgggatctttttcacctaagagtttcctagctctgtcacatgaattcttttttatcctaatggcagatccaatttcatctcattcatttttttaaccataacttgcttttcccattctcacttttagaattatacctatgatggccctttctttatcttgcttaccttatagattataagtcccctgtgagtaagtaagagtcatgtttttctttaaagtttcaacaacaaaccccaaggtttatttatttaacaacaggtattcgttgaggtgccttctgggtgcaaggagctttagagtagattttgacctcagctgaacctggaactctgatctgatagactgtttatgataagcttttttttttattagcagcgtgatttgtatatcgatggcttaacatatacaacagcatttcttctccctgcaccttttcgtgaacctgacattttgaacataagcaataacatctgtatggtaaagtaggcagattatacatgtgttgcttagtgaatgattaccaagtgaacacacttggtatattgctttaccaaaatacatgtgtagttgtcacttcagattcactgagttaagaaagttttatttaaatattaatattaatcaagaatttaacagatatatgtgacagaaatctaacttcaagtgactgaagcagaaagaaaaatttttgaatgacataactgagaaaattagaggtagctctagctttgattccatttagatcgagcagctcacacaatgttagcaaggactcatctccactctgccttccctggtgctggttttgctctcaaactctatatagaactctcggccgggcgcggtggctcacacctgtaatcaaaacactttgggaggctgagtcgggaggatagcgtgagcccaggagtttgagaccagctaaggcaatatagtgagaccatgtctctacagaaaaaatttaaaaacagatcagctgggtgtggtgccacatgcctgtagtcccagcttctcaggaggctggggtgggaagatcacttgagcccaggaggtcgaggctgcagtgagccatgatcacatcactgcagtccagcctgggtgacagagcaagacctgtcaccctgccacccataaaaaacctcttctgtaatgccaggttcttgacaagatgtgataattccacacttacatcctcagatctcccatccagggcaaggacagactaaaagagcatatcttctccagaagtcctagaaacatctcatcattgactatgattgaattttatttattaatacttccctaggatatcctgtgtttgagtgtgaagttaatatcacacaaagcatgtagctaacagttgtgtgagggttggaaattcagggtgctgttaggaaggggaaatggattggggtttaaggtagggggagtaaaaacaagaaaccatccactctgtatattatataagactgtgatcgaattaagaattttagtttacagtttagcataaacaaatagtagtagaaatgaatgcatttattcattccttccttctccaatagtgtttaagtacaatctttttatttgcattttattgatgattgattgtggttgaaaggagtggtgatattatttcgaggatccactgtgtaagaagactgttggcagtggaaggctcgagttgattaagtgacaaagaggtaaagcagacatgcccaagcttggttatgctctgatttcctaccctgttactttcatccataatttatagtacatccattttgtgtcattttgcttcaggtatttcttgtcctgactgtcttcttttttatgattttactgtttcttcacactaatggctttgtcctctgactttgactctttgtgagattcttctgagcagttaacctctaggataatgtggcttgaacacattacagaactatgttttgacttgttagtattattcacacattcatgacaattgagcctctctactgtgagaaatgttttagaggccagtttctaggcatagctgtttttctcccatgagtatgcaaatcaatagttttaaccattgttaaaatgcaatcatagtgacttcagaaaatttggaaaatacagaaaatatagggaagaataaaattaacccacagttctgtcacctaaaggtaactgctgccaatgttttcatgtatttcttttctgtctctccaatgcatttttttacatagttgtgagcgttagccaagttattttcatgttgttatgtaatcaatatttttcaatagaagtattagaggttttttttattgatataaaaataacaattacagatcctgatatatagaagttattcaaaattatacagttttcaaaaaatcaagacaagtaggcccaatacaaactactgaatcatcttctaatttccctctaaaatatttatagaaatatgtaagtagaaaaacattcatcctttcctcgtctaattatgatcctgccatattccaggcacaagagaaagctctggggcttgagtcttaatagggctgatagtccaaccaggggacagggtatcataaagagataattcaaaactttaagattggagggtaggtgatggtagaaaattctgcggcaaacatttgttgatgctcatcatttgttgatgtcatcaaagatcaccagggcataattataatcaaaattagttttattgatgcttgctgcagcaagagagactgcacaccactggggtctatgggtgcttctcagtgggaaggtgtaaggaggggcttgctaagaatttgagcacatgtagctaattttaaggagggctcaagtgagcaagggtttcttctggattgagtgctgtcagaaagtggattgagtgctgtcagaaagtgggagtgattttgcaactgggtatcttaatttttatgttgtgggtgggaggaaaggaaagaagcaacagtcacccatgttagccacaagaagaggttggctgtttatggtttgcacagtgactttgtttttatctgtgctcaggcatgattacagtatctcattttatccggattacagtgacctcatctgatgttagagatttgagaattgttaaatgttcagcaggagaacgccaccgcctagtgtgaatgctaggtcagaagctgctttttcacactgaaaccatttaagtatgtacaaataagttaatagtgtaaatgtaggtgtaaaatacaatgcaaaacaaaataatgaagtaagtgaattaaattattgcaccaaatatggggatatgaaatagggaaagaaaagcattaagttacttatagtccataaagggactacattattttgttactctgataatcccataaaacaaagttttaagaatgtttacagtaaccatgaatggaattagtgaaactattcatatcaatgcaaaaaaaaaaaaaaaaaaagcaaagaaactaagtctgtacagcaaaagatggaaaggaaacaagaaaattaaatgaagacaaaggttgtgattattacagtaaatgaaaataggtttttatctttaaaatgtagactcaaactgcaaagctaatgatatgctatctgcaaaatattcctattttgtaaataaataaaaccatagatttaaagaagaaagggcacagatgtactggggagacaaaaataactgatccgttgggtgtataccatgtgccaagcaattttcatatactcatttaacatgacatatctataattatatgaggcagatattattaacctcagtctatagatgagaagactaaagctcagagggattgctaaaaactagtaaataaattatggaaccatgatttgaatttagatttaagtctgactgaggcatgttcagagacactacactgcctctccagaaatcaggagtagcaatattaacactggacaaagaatttaaagcaagtaaaaaaaaattaagagaatttcatattaataacaagtataatgcacaataaaactgtaccaaatgacataaaaatgcataatgaaatttattagaaattaaaaattaaagggcatagttacaattattgaggaattctcatagctctgccttatagatcatgtaaacaaacaaggtcatagaggacttaaatagcaaagcagaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10767 -> Molecular function: GO:0003746 [translation elongation factor activity] evidence: IEA GeneID:10767 -> Molecular function: GO:0003924 [GTPase activity] evidence: IEA GeneID:10767 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA GeneID:10767 -> Biological process: GO:0006412 [translation] evidence: TAS GeneID:10767 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
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