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2026-01-09 07:47:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001145158 7037 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant
2, mRNA.
ACCESSION NM_001145158
VERSION NM_001145158.1 GI:223555962
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 7037)
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 7037)
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 7037)
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 7037)
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 7037)
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 7037)
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 7037)
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 7037)
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 7037)
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 7037)
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, AK295545.1,
BC040849.1, AB028961.1, AL445190.9 and AJ459826.1.
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 (2) lacks an in-frame exon in the
coding region, compared to variant 1. This results in a shorter
protein (isoform 2) compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: AK295545.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-79 DB051030.1 1-79
80-2591 AK295545.1 1-2512
2592-2786 BC040849.1 2622-2816
2787-6305 AB028961.1 2144-5662
6306-6758 AL445190.9 21349-21801 c
6759-7037 AJ459826.1 6874-7152
FEATURES Location/Qualifiers
source 1..7037
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q23.3"
gene 1..7037
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="HBS1-like (S. cerevisiae)"
/db_xref="GeneID:10767"
/db_xref="HGNC:4834"
/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..2136
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="isoform 2 is encoded by transcript variant 2; Hsp70
subfamily B suppressor 1-like protein; HBS1-like protein;
ERF3-similar protein"
/codon_start=1
/product="HBS1-like protein isoform 2"
/protein_id="NP_001138630.1"
/db_xref="GI:223555963"
/db_xref="CCDS:CCDS47479.1"
/db_xref="GeneID:10767"
/db_xref="HGNC:4834"
/db_xref="MIM:612450"
/translation="
MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE
"
misc_feature 208..495
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="Domain of unknown function (DUF1916); Region:
DUF1916; pfam08938"
/db_xref="CDD:149872"
misc_feature 847..2133
/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 865..1524
/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 880..903
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="G1 box; other site"
/db_xref="CDD:206670"
misc_feature order(883..885,889..891,901..906,913..915,922..927,
1066..1071,1123..1128,1195..1200,1339..1341,1351..1353)
/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(889..891,895..906,1297..1302,1306..1308,1414..1422)
/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(901..903,1030..1032,1039..1044,1048..1050,
1054..1056,1060..1068,1072..1074,1105..1107,1111..1113,
1117..1125,1129..1131,1138..1140)
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="EF1Balpha binding site [polypeptide binding]; other
site"
/db_xref="CDD:206670"
misc_feature 1036..1068
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="Switch I region; other site"
/db_xref="CDD:206670"
misc_feature 1054..1056
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="G2 box; other site"
/db_xref="CDD:206670"
misc_feature 1111..1122
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="G3 box; other site"
/db_xref="CDD:206670"
misc_feature 1117..1173
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="Switch II region; other site"
/db_xref="CDD:206670"
misc_feature 1297..1308
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="G4 box; other site"
/db_xref="CDD:206670"
misc_feature 1414..1422
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/note="G5 box; other site"
/db_xref="CDD:206670"
misc_feature 1540..1788
/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 1807..2127
/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..511
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
STS 331..459
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/standard_name="PMC140821P3"
/db_xref="UniSTS:270977"
variation 487
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:113745241"
exon 512..620
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
variation 520
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:111758776"
variation 531
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="g"
/db_xref="dbSNP:35697718"
variation 619
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:34860737"
exon 621..880
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 881..1046
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1047..1164
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1165..1311
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
variation 1262
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:111422826"
exon 1312..1386
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
STS 1337..1429
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/standard_name="HBS1L"
/db_xref="UniSTS:504542"
exon 1387..1504
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1505..1573
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1574..1678
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1679..1769
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1770..1878
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
exon 1879..1979
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
variation 1912
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:36025561"
exon 1980..2124
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
variation 1986
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:113089804"
STS 1993..2124
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/standard_name="PMC140821P2"
/db_xref="UniSTS:270976"
variation 2034
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="c"
/db_xref="dbSNP:1139174"
variation 2096
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="c"
/db_xref="dbSNP:113801496"
exon 2125..7037
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/inference="alignment:Splign:1.39.8"
variation 2236
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:112748112"
variation 2372
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:113902835"
STS 2547..2730
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/standard_name="RH46724"
/db_xref="UniSTS:73570"
STS 2582..2782
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/standard_name="HSC20G062"
/db_xref="UniSTS:19610"
polyA_signal 2759..2764
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
variation 2773
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace=""
/replace="g"
/db_xref="dbSNP:111504247"
polyA_site 2790
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
variation 2892
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:112465963"
variation 3347
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:112290620"
variation 3633
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:111768274"
variation 4081
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:112529964"
variation 4226
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:112911622"
variation 4467
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="t"
/db_xref="dbSNP:111639058"
variation 4539
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="g"
/db_xref="dbSNP:112518126"
variation 5679
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:112112993"
variation 5747
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:112795442"
variation 6416
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:111288345"
variation 6561
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="c"
/replace="t"
/db_xref="dbSNP:112150644"
variation 6620
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:111520283"
variation 6758
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135205"
variation 6841
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:113666687"
variation 6879
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135206"
variation 6906
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace="a"
/replace="g"
/db_xref="dbSNP:113255530"
variation 6948..6949
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
/replace=""
/replace="a"
/db_xref="dbSNP:112383774"
polyA_site 7037
/gene="HBS1L"
/gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
ORIGIN
agggaggcggacagtgaccctgaggcattgccgtcgcgcggtgcacagctaagacgtcgcgcttgcgcaggcgctcggcgcagaggcctgcgggaagccaagatggcgcataggggttctccaggctgcagttggcgccttatcagtatctaagcggagtgttttggaaggagttaaggggctgtggcaaacgccctctccgccgtcatggcccggcatcggaatgttcgaggctataactacgatgaagattttgaagatgatgatctctacggccagtctgtagaggatgattattgtatttcgccgtcaacagctcgtctttattcatgccttgatcacatgagagaggtacttggagatgctgtgccagatgaaatattaattgaagcagttctgaagaacaagtttgatgtgcagaaggctttgtcaggggttctggaacaagatagagtgcagagtttgaaggacaagaatgaggcaacagtatctacaggaaagatagcaaaaggaaaaccagtagattcccagacatcgcgaagtgaatctgaaattgtgccaaaagttgctaaaatgactgtatctggaaagaagcaaactatgggatttgaagtgcctggagtatcttctgaagaaaatggtcatagtttccacacacctcaaaaaggaccgcccattgaagatgccattgcttcttccgatgttcttgagactgcttctaaatctgctaatccaccccacacgattcaagcatcagaagagcagagttcaaccccagcaccggtgaaaaagtctggcaagctgaggcagcaaatagatgtgaaggcggaactggagaagcggcaaggagggaagcagctactcaacttagtggtcattggtcatgttgatgctgggaaaagtactctgatgggccatatgctttatcttctgggtaatataaacaaaagaactatgcataagtatgaacaggagtctaaaaaggctggcaaagcttcgtttgcatatgcatgggtcttggatgaaactggcgaagaaagggaaaggggagtaaccatggatgttggtatgacaaagtttgaaaccacaaccaaagttattacattaatggatgctccaggccataaggacttcattccaaatatgattacaggagcagcccaggcggatgtagctgttttagttgtagatgccagcaggggagagtttgaagctggatttgagactggaggacaaacacgagagcatggactcttggtccgttctctgggagtgacgcagcttgcagttgcagttaataaaatggatcaggttaattggcaacaagaaaggtttcaagagattactggaaaacttgggcactttcttaagcaagcaggttttaaggagagtgatgtaggttttattcctacaagtggtctcagtggtgaaaatctaatcacaagatctcagtcaagtgaactcacaaaatggtataaaggactatgtttattagaacaaattgattcctttaagcctccccagcgatctattgacaaaccttttagattatgtgtgtccgatgttttcaaagatcaaggatctggattttgcataactggtaaaatagaagctggttatatccaaactggtgaccgactactggcaatgcctcctaatgaaacttgtaccgtgaaaggaatcactctgcatgatgaacctgtcgactgggcggcagcaggcgatcatgttagtcttactttggttgggatggatatcatcaaaatcaatgttggctgcatattttgtggccccaaagtacccattaaagcttgcactcgtttcagagcccgaatcctcatctttaatattgaaattcctatcactaaaggatttcctgtgctgttacactaccaaactgtcagtgaacccgccgttattaaacgattgattagtgtcttaaacaaaagcacgggtgaagtcacaaagaaaaagcctaagtttttgactaaaggccagaatgcattggtagagctacagacacaaagaccaatagctcttgagctatataaagactttaaagagctggggaggttcatgctacgttacggtggttctacaatagctgctggtgttgtcactgagataaaagaatgatgggtcagaatttctaccacgtttctggatacagtgaaatagctaacctctgtttcaagaatgcagttattaagtcaaaggaacaatgtgcaattgatatgtttttagatgagagagaaaaattaaagctaaaattagctgcaaagaagtattaataatcacctctgcaaaaattctaagttgccaactggcaaagaaagtctaatgttaaaaacaactttgcctttgaaacgttaataaatggatttactttgctaagatttatggcaagtgtcaaaaatagtatctgaagatactgaatcatcatgaaatgaactctacttctggccaaagcacaatgtatttgcagttttctcttttgattcaattatactgcacatgttttaaggaaaagtaacttaattgggtttttcaggcagttgatatttgacctaagctttttttttttttttttttccagttaatgctaagaaaagatttggggaaggttataataaaagtattttgtggtgaccataagaatgtccctccccaaacaagtaaacttgtgaaagtttaatttggaattagtggaagctgttcctttgaaagccaagatattatttaagttgtaaagccagctaataaaatgccttagtttgagcataatacaaactgtgttttgttctttagacatttatgagattctctgccactaacagtaaatatgatttaggggttttgtgggatctttttcacctaagagtttcctagctctgtcacatgaattcttttttatcctaatggcagatccaatttcatctcattcatttttttaaccataacttgcttttcccattctcacttttagaattatacctatgatggccctttctttatcttgcttaccttatagattataagtcccctgtgagtaagtaagagtcatgtttttctttaaagtttcaacaacaaaccccaaggtttatttatttaacaacaggtattcgttgaggtgccttctgggtgcaaggagctttagagtagattttgacctcagctgaacctggaactctgatctgatagactgtttatgataagcttttttttttattagcagcgtgatttgtatatcgatggcttaacatatacaacagcatttcttctccctgcaccttttcgtgaacctgacattttgaacataagcaataacatctgtatggtaaagtaggcagattatacatgtgttgcttagtgaatgattaccaagtgaacacacttggtatattgctttaccaaaatacatgtgtagttgtcacttcagattcactgagttaagaaagttttatttaaatattaatattaatcaagaatttaacagatatatgtgacagaaatctaacttcaagtgactgaagcagaaagaaaaatttttgaatgacataactgagaaaattagaggtagctctagctttgattccatttagatcgagcagctcacacaatgttagcaaggactcatctccactctgccttccctggtgctggttttgctctcaaactctatatagaactctcggccgggcgcggtggctcacacctgtaatcaaaacactttgggaggctgagtcgggaggatagcgtgagcccaggagtttgagaccagctaaggcaatatagtgagaccatgtctctacagaaaaaatttaaaaacagatcagctgggtgtggtgccacatgcctgtagtcccagcttctcaggaggctggggtgggaagatcacttgagcccaggaggtcgaggctgcagtgagccatgatcacatcactgcagtccagcctgggtgacagagcaagacctgtcaccctgccacccataaaaaacctcttctgtaatgccaggttcttgacaagatgtgataattccacacttacatcctcagatctcccatccagggcaaggacagactaaaagagcatatcttctccagaagtcctagaaacatctcatcattgactatgattgaattttatttattaatacttccctaggatatcctgtgtttgagtgtgaagttaatatcacacaaagcatgtagctaacagttgtgtgagggttggaaattcagggtgctgttaggaaggggaaatggattggggtttaaggtagggggagtaaaaacaagaaaccatccactctgtatattatataagactgtgatcgaattaagaattttagtttacagtttagcataaacaaatagtagtagaaatgaatgcatttattcattccttccttctccaatagtgtttaagtacaatctttttatttgcattttattgatgattgattgtggttgaaaggagtggtgatattatttcgaggatccactgtgtaagaagactgttggcagtggaaggctcgagttgattaagtgacaaagaggtaaagcagacatgcccaagcttggttatgctctgatttcctaccctgttactttcatccataatttatagtacatccattttgtgtcattttgcttcaggtatttcttgtcctgactgtcttcttttttatgattttactgtttcttcacactaatggctttgtcctctgactttgactctttgtgagattcttctgagcagttaacctctaggataatgtggcttgaacacattacagaactatgttttgacttgttagtattattcacacattcatgacaattgagcctctctactgtgagaaatgttttagaggccagtttctaggcatagctgtttttctcccatgagtatgcaaatcaatagttttaaccattgttaaaatgcaatcatagtgacttcagaaaatttggaaaatacagaaaatatagggaagaataaaattaacccacagttctgtcacctaaaggtaactgctgccaatgttttcatgtatttcttttctgtctctccaatgcatttttttacatagttgtgagcgttagccaagttattttcatgttgttatgtaatcaatatttttcaatagaagtattagaggttttttttattgatataaaaataacaattacagatcctgatatatagaagttattcaaaattatacagttttcaaaaaatcaagacaagtaggcccaatacaaactactgaatcatcttctaatttccctctaaaatatttatagaaatatgtaagtagaaaaacattcatcctttcctcgtctaattatgatcctgccatattccaggcacaagagaaagctctggggcttgagtcttaatagggctgatagtccaaccaggggacagggtatcataaagagataattcaaaactttaagattggagggtaggtgatggtagaaaattctgcggcaaacatttgttgatgctcatcatttgttgatgtcatcaaagatcaccagggcataattataatcaaaattagttttattgatgcttgctgcagcaagagagactgcacaccactggggtctatgggtgcttctcagtgggaaggtgtaaggaggggcttgctaagaatttgagcacatgtagctaattttaaggagggctcaagtgagcaagggtttcttctggattgagtgctgtcagaaagtggattgagtgctgtcagaaagtgggagtgattttgcaactgggtatcttaatttttatgttgtgggtgggaggaaaggaaagaagcaacagtcacccatgttagccacaagaagaggttggctgtttatggtttgcacagtgactttgtttttatctgtgctcaggcatgattacagtatctcattttatccggattacagtgacctcatctgatgttagagatttgagaattgttaaatgttcagcaggagaacgccaccgcctagtgtgaatgctaggtcagaagctgctttttcacactgaaaccatttaagtatgtacaaataagttaatagtgtaaatgtaggtgtaaaatacaatgcaaaacaaaataatgaagtaagtgaattaaattattgcaccaaatatggggatatgaaatagggaaagaaaagcattaagttacttatagtccataaagggactacattattttgttactctgataatcccataaaacaaagttttaagaatgtttacagtaaccatgaatggaattagtgaaactattcatatcaatgcaaaaaaaaaaaaaaaaaaagcaaagaaactaagtctgtacagcaaaagatggaaaggaaacaagaaaattaaatgaagacaaaggttgtgattattacagtaaatgaaaataggtttttatctttaaaatgtagactcaaactgcaaagctaatgatatgctatctgcaaaatattcctattttgtaaataaataaaaccatagatttaaagaagaaagggcacagatgtactggggagacaaaaataactgatccgttgggtgtataccatgtgccaagcaattttcatatactcatttaacatgacatatctataattatatgaggcagatattattaacctcagtctatagatgagaagactaaagctcagagggattgctaaaaactagtaaataaattatggaaccatgatttgaatttagatttaagtctgactgaggcatgttcagagacactacactgcctctccagaaatcaggagtagcaatattaacactggacaaagaatttaaagcaagtaaaaaaaaattaagagaatttcatattaataacaagtataatgcacaataaaactgtaccaaatgacataaaaatgcataatgaaatttattagaaattaaaaattaaagggcatagttacaattattgaggaattctcatagctctgccttatagatcatgtaaacaaacaaggtcatagaggacttaaatagcaaagcagaaaaaaa
//
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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@meso_cacase at
DBCLS
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