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Q9Y450 (HBS1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
HBS1-like protein
Alternative name(s):
ERFS
Gene names
Name:HBS1L
Synonyms:HBS1, KIAA1038
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length684 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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: Contains a phosphoserine at position 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 684684HBS1-like protein
PRO_0000091491

Regions

Nucleotide binding267 – 2748GTP By similarity
Nucleotide binding344 – 3485GTP By similarity
Nucleotide binding406 – 4094GTP By similarity

Amino acid modifications

Modified residue1171Phosphoserine Ref.10
Modified residue1271Phosphoserine Ref.10
Modified residue6221N6-acetyllysine By similarity

Natural variations

Alternative sequence37 – 7842Missing in isoform 3.
VSP_041068
Alternative sequence145 – 684540KPVDS…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 variant4401G → S.
Corresponds to variant rs4435957 [ dbSNP | Ensembl ].
VAR_048963

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: D457ACA3941C4B4B

FASTA68475,473
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 2E634F1A2B1DC232
Show »

FASTA63270,128
Isoform 3 [UniParc].

Checksum: 2B120FC9C989EE0C
Show »

FASTA64270,625

References

« Hide '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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 189-684 (ISOFORMS 1/3).
Tissue: Brain.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-246 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-117 AND SER-127, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [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.
RefSeqNP_001138630.1. NM_001145158.1.
NP_001138679.1. NM_001145207.1.
NP_006611.1. NM_006620.3.
UniGeneHs.378532.

3D structure databases

ProteinModelPortalQ9Y450.
SMRQ9Y450. Positions 60-123, 258-683.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115986. 12 interactions.
IntActQ9Y450. 8 interactions.
MINTMINT-6784072.
STRING9606.ENSP00000356811.

PTM databases

PhosphoSiteQ9Y450.

Polymorphism databases

DMDM68566500.

Proteomic databases

PaxDbQ9Y450.
PeptideAtlasQ9Y450.
PRIDEQ9Y450.

Protocols and materials databases

DNASU10767.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367822; ENSP00000356796; ENSG00000112339. [Q9Y450-2]
ENST00000367826; ENSP00000356800; ENSG00000112339. [Q9Y450-4]
ENST00000367837; ENSP00000356811; ENSG00000112339. [Q9Y450-1]
GeneID10767.
KEGGhsa:10767.
UCSCuc003qey.2. human. [Q9Y450-1]
uc003qfa.2. human. [Q9Y450-2]
uc011eda.1. human. [Q9Y450-4]

Organism-specific databases

CTD10767.
GeneCardsGC06M135281.
HGNCHGNC:4834. HBS1L.
HPAHPA029728.
HPA029729.
MIM612450. gene.
neXtProtNX_Q9Y450.
PharmGKBPA29209.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5256.
HOVERGENHBG000179.
InParanoidQ9Y450.
KOK14416.
OMASFKPPQR.
OrthoDBEOG7JMGCV.
PhylomeDBQ9Y450.
TreeFamTF105833.

Gene expression databases

ArrayExpressQ9Y450.
BgeeQ9Y450.
CleanExHS_HBS1L.
GenevestigatorQ9Y450.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR000795. EF_GTP-bd_dom.
IPR015033. HBS1-like_N.
IPR027417. P-loop_NTPase.
IPR009000. Transl_B-barrel.
IPR009001. Transl_elong_EF1A/Init_IF2_C.
IPR004161. Transl_elong_EFTu/EF1A_2.
IPR004160. Transl_elong_EFTu/EF1A_C.
[Graphical view]
PfamPF00009. GTP_EFTU. 1 hit.
PF03144. GTP_EFTU_D2. 1 hit.
PF03143. GTP_EFTU_D3. 1 hit.
PF08938. HBS1_N. 1 hit.
[Graphical view]
PRINTSPR00315. ELONGATNFCT.
ProDomPD278081. DUF1916. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMSSF50447. SSF50447. 1 hit.
SSF50465. SSF50465. 1 hit.
SSF52540. SSF52540. 1 hit.
ProtoNetSearch...

Other

ChiTaRSHBS1L. human.
GenomeRNAi10767.
NextBio40885.
PMAP-CutDBQ9Y450.
PROQ9Y450.
SOURCESearch...

Entry information

Entry nameHBS1L_HUMAN
AccessionPrimary (citable) accession number: Q9Y450
Secondary accession number(s): B7Z365 expand/collapse secondary AC list , Q4VX89, Q4VX90, Q5T7G3, Q8NDW9, Q9UPW3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM