Q9Y450 (HBS1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HBS1-like protein

Alternative name(s):
ERFS

Gene names

Name:	HBS1L
Synonyms:	HBS1, KIAA1038

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	684 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Detected in heart, brain, placenta, liver, muscle, kidney and pancreas. Ref.1
Sequence similarities	Belongs to the GTP-binding elongation factor family.

Ontologies

Keywords
Biological process	Protein biosynthesis
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	GTP-binding Nucleotide-binding
Molecular function	Elongation factor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	signal transduction Traceable author statement. Source: ProtInc
Molecular function	GTP binding Traceable author statement. Source: ProtInc GTPase activity Inferred from electronic annotation. Source: InterPro translation elongation factor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y450-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y450-2)

The sequence of this isoform differs from the canonical sequence as follows:
     145-684: KPVDSQTSRS...AAGVVTEIKE → VLFSSSEVSA...ANQKKAFTRE

Note: Phosphorylated on Ser-246.

Isoform 3 (identifier: Q9Y450-4)

The sequence of this isoform differs from the canonical sequence as follows:
     37-78: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 684	684	HBS1-like protein		PRO_0000091491
Regions
	Nucleotide binding	267 – 274	8	GTP By similarity
	Nucleotide binding	344 – 348	5	GTP By similarity
	Nucleotide binding	406 – 409	4	GTP By similarity
Natural variations
	Alternative sequence	37 – 78	42	Missing in isoform 3.		VSP_041068
	Alternative sequence	145 – 684	540	KPVDS…TEIKE → VLFSSSEVSADNVQSSYPQS ANHLDYSSKPFDFASSVGKY GLSHNSSVPTHCLLHRKKKL DTRKSEKKLESCKLTKELSL ANLIHDMSRDSCESQPSVRL SSTDSLESLLSKNLDADLLR PHASECISKDDSAFKEIPDL KTIIIKGTTPNNSLYIQNNS LSDFQNIPVQDSLGSSNNPL YLTSSLENMTVDNLNASKET EVGNVSLVEQSAKNHTFKND NLQFSQCESPSLTELFQEHK ENNISQCFTLSDLCNQSSAS FTDLSLGSFPLSQLANRCQS SPGISELTGSLSSLAFHKAS PTRDLENLSLSELIAETIDV DNSQIKKESFEVSLSEVRSP GIDSNIDLSVLIKNPDFVPK PVVDPSIAPSSRTKVLSSKL GKNSNFAKDNKKNNKGSLTR KPPFSLSWTKALAARPSAFA STLCLRYPLKSCKRRTLDLY KTFLYSRQVQDVKDKEISPL VAITPFDFKSASPDDIVKAN QKKAFTRE in isoform 2.		VSP_013624
	Natural variant	440	1	G → S. Corresponds to variant rs4435957 [ dbSNP | Ensembl ].		VAR_048963

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: D457ACA3941C4B4B	FASTA	684	75,473
	10 20 30 40 50 60 MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED 70 80 90 100 110 120 LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL 130 140 150 160 170 180 EQDRVQSLKD KNEATVSTGK IAKGKPVDSQ TSRSESEIVP KVAKMTVSGK KQTMGFEVPG 190 200 210 220 230 240 VSSEENGHSF HTPQKGPPIE DAIASSDVLE TASKSANPPH TIQASEEQSS TPAPVKKSGK 250 260 270 280 290 300 LRQQIDVKAE LEKRQGGKQL LNLVVIGHVD AGKSTLMGHM LYLLGNINKR TMHKYEQESK 310 320 330 340 350 360 KAGKASFAYA WVLDETGEER ERGVTMDVGM TKFETTTKVI TLMDAPGHKD FIPNMITGAA 370 380 390 400 410 420 QADVAVLVVD ASRGEFEAGF ETGGQTREHG LLVRSLGVTQ LAVAVNKMDQ VNWQQERFQE 430 440 450 460 470 480 ITGKLGHFLK QAGFKESDVG FIPTSGLSGE NLITRSQSSE LTKWYKGLCL LEQIDSFKPP 490 500 510 520 530 540 QRSIDKPFRL CVSDVFKDQG SGFCITGKIE AGYIQTGDRL LAMPPNETCT VKGITLHDEP 550 560 570 580 590 600 VDWAAAGDHV SLTLVGMDII KINVGCIFCG PKVPIKACTR FRARILIFNI EIPITKGFPV 610 620 630 640 650 660 LLHYQTVSEP AVIKRLISVL NKSTGEVTKK KPKFLTKGQN ALVELQTQRP IALELYKDFK 670 680 ELGRFMLRYG GSTIAAGVVT EIKE
	Isoform 2 [UniParc]. Checksum: 2E634F1A2B1DC232	FASTA	632	70,128
	10 20 30 40 50 60 MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED 70 80 90 100 110 120 LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL 130 140 150 160 170 180 EQDRVQSLKD KNEATVSTGK IAKGVLFSSS EVSADNVQSS YPQSANHLDY SSKPFDFASS 190 200 210 220 230 240 VGKYGLSHNS SVPTHCLLHR KKKLDTRKSE KKLESCKLTK ELSLANLIHD MSRDSCESQP 250 260 270 280 290 300 SVRLSSTDSL ESLLSKNLDA DLLRPHASEC ISKDDSAFKE IPDLKTIIIK GTTPNNSLYI 310 320 330 340 350 360 QNNSLSDFQN IPVQDSLGSS NNPLYLTSSL ENMTVDNLNA SKETEVGNVS LVEQSAKNHT 370 380 390 400 410 420 FKNDNLQFSQ CESPSLTELF QEHKENNISQ CFTLSDLCNQ SSASFTDLSL GSFPLSQLAN 430 440 450 460 470 480 RCQSSPGISE LTGSLSSLAF HKASPTRDLE NLSLSELIAE TIDVDNSQIK KESFEVSLSE 490 500 510 520 530 540 VRSPGIDSNI DLSVLIKNPD FVPKPVVDPS IAPSSRTKVL SSKLGKNSNF AKDNKKNNKG 550 560 570 580 590 600 SLTRKPPFSL SWTKALAARP SAFASTLCLR YPLKSCKRRT LDLYKTFLYS RQVQDVKDKE 610 620 630 ISPLVAITPF DFKSASPDDI VKANQKKAFT RE
	Isoform 3 [UniParc]. Checksum: 2B120FC9C989EE0C	FASTA	642	70,625
	10 20 30 40 50 60 MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTARLY SCLDHMREVL GDAVPDEILI 70 80 90 100 110 120 EAVLKNKFDV QKALSGVLEQ DRVQSLKDKN EATVSTGKIA KGKPVDSQTS RSESEIVPKV 130 140 150 160 170 180 AKMTVSGKKQ TMGFEVPGVS SEENGHSFHT PQKGPPIEDA IASSDVLETA SKSANPPHTI 190 200 210 220 230 240 QASEEQSSTP APVKKSGKLR QQIDVKAELE KRQGGKQLLN LVVIGHVDAG KSTLMGHMLY 250 260 270 280 290 300 LLGNINKRTM HKYEQESKKA GKASFAYAWV LDETGEERER GVTMDVGMTK FETTTKVITL 310 320 330 340 350 360 MDAPGHKDFI PNMITGAAQA DVAVLVVDAS RGEFEAGFET GGQTREHGLL VRSLGVTQLA 370 380 390 400 410 420 VAVNKMDQVN WQQERFQEIT GKLGHFLKQA GFKESDVGFI PTSGLSGENL ITRSQSSELT 430 440 450 460 470 480 KWYKGLCLLE QIDSFKPPQR SIDKPFRLCV SDVFKDQGSG FCITGKIEAG YIQTGDRLLA 490 500 510 520 530 540 MPPNETCTVK GITLHDEPVD WAAAGDHVSL TLVGMDIIKI NVGCIFCGPK VPIKACTRFR 550 560 570 580 590 600 ARILIFNIEI PITKGFPVLL HYQTVSEPAV IKRLISVLNK STGEVTKKKP KFLTKGQNAL 610 620 630 640 VELQTQRPIA LELYKDFKEL GRFMLRYGGS TIAAGVVTEI KE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Wallrapp C., Verrier S.-B., Zhouravleva G., Philippe H., Philippe M., Gress T.M., Jean-Jean O. FEBS Lett. 440:387-392(1998) [PubMed: 9872408] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Pancreatic cancer.
[2]	"An integrated physical and transcript map of human 6q23 encompassing a quantitative trait loci for foetal haemaglobin expression." Close J.P., Game L.G., Clark B., Thein S.L. Thesis (2002), University of Oxford, United Kingdom Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Hippocampus.
[4]	"The DNA sequence and analysis of human chromosome 6." 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.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., 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.E., 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.N.D., 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.F., 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.J.C.T., 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.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Cervix and Placenta.
[7]	"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed: 10470851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 189-684 (ISOFORMS 1/3). Tissue: Brain.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-246 (ISOFORM 2), MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U87791 mRNA. Translation: AAD00645.1. AJ459826 mRNA. Translation: CAD30873.1. AJ459827 mRNA. Translation: CAD30874.1. AK295545 mRNA. Translation: BAH12101.1. AL353596, AL445190 Genomic DNA. Translation: CAI17912.1. AL353596, AL445190 Genomic DNA. Translation: CAI17913.1. AL353596 Genomic DNA. Translation: CAI17914.1. AL445190, AL353596 Genomic DNA. Translation: CAI95161.1. AL445190, AL353596 Genomic DNA. Translation: CAI95162.1. CH471051 Genomic DNA. Translation: EAW47982.1. BC001465 mRNA. Translation: AAH01465.1. BC040849 mRNA. Translation: AAH40849.1. AB028961 mRNA. Translation: BAA82990.1.
IPI	IPI00009070. IPI00168609. IPI00974576.
RefSeq	NP_001138630.1. NM_001145158.1. NP_001138679.1. NM_001145207.1. NP_006611.1. NM_006620.3.
UniGene	Hs.378532.
3D structure databases
ProteinModelPortal	Q9Y450.
SMR	Q9Y450. Positions 60-123, 257-684.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y450. 3 interactions.
STRING	Q9Y450.
PTM databases
PhosphoSite	Q9Y450.
Polymorphism databases
DMDM	68566500.
Proteomic databases
PeptideAtlas	Q9Y450.
PRIDE	Q9Y450.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367837; ENSP00000356811; ENSG00000112339. ENST00000415177; ENSP00000389826; ENSG00000112339.
GeneID	10767.
KEGG	hsa:10767.
NMPDR	fig|9606.3.peg.27796.
UCSC	uc003qez.1. human. uc003qfa.1. human.
Organism-specific databases
CTD	10767.
GeneCards	GC06M135323.
H-InvDB	HIX0006237.
HGNC	HGNC:4834. HBS1L.
HPA	HPA029728. HPA029729.
MIM	612450. gene.
neXtProt	NX_Q9Y450.
PharmGKB	PA29209.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06279.
GeneTree	ENSGT00550000074643.
HOGENOM	HBG307581.
HOVERGEN	HBG000179.
InParanoid	Q9Y450.
OMA	PPNETCT.
OrthoDB	EOG4F4S9P.
PhylomeDB	Q9Y450.
Gene expression databases
ArrayExpress	Q9Y450.
Bgee	Q9Y450.
CleanEx	HS_HBS1L.
Genevestigator	Q9Y450.
GermOnline	ENSG00000112339. Homo sapiens.
Family and domain databases
InterPro	IPR015033. DUF1916. IPR000795. ProtSyn_GTP-bd. IPR009001. Transl_elong_EF1A/Init_IF2_C. IPR004161. Transl_elong_EFTu/EF1A_2. IPR004160. Transl_elong_EFTu/EF1A_C. IPR009000. Transl_elong_init/rib_B-barrel. [Graphical view]
KO	K14416.
Pfam	PF08938. DUF1916. 1 hit. PF00009. GTP_EFTU. 1 hit. PF03144. GTP_EFTU_D2. 1 hit. PF03143. GTP_EFTU_D3. 1 hit. [Graphical view]
PRINTS	PR00315. ELONGATNFCT.
ProDom	PD278081. DUF1916. 1 hit. [Graphical view] [Entries sharing at least one domain]
SUPFAM	SSF50465. Elong_init_C. 1 hit. SSF50447. Translat_factor. 1 hit.
PROSITE	PS00301. EFACTOR_GTP. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	40885.
PMAP-CutDB	Q9Y450.
SOURCE	Search...

Entry information

Entry name

HBS1L_HUMAN

Accession

Primary (citable) accession number: Q9Y450
Secondary accession number(s): B7Z365 , Q4VX89, Q4VX90, Q5T7G3, Q8NDW9, Q9UPW3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2005
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.