Q9Y450 (HBS1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 107.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: HBS1-like protein Alternative name(s): ERFS | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| 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 | GTP catabolic process Inferred from electronic annotation. Source: GOC signal transductionTraceable author statement Ref.1. Source: ProtInc translationTraceable author statement Ref.1. Source: ProtInc |
| Molecular_function | GTP binding Traceable author statement Ref.1. Source: ProtInc GTPase activityInferred from electronic annotation. Source: InterPro translation elongation factor activityInferred 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: 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 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 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 117 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 127 | 1 | Phosphoserine Ref.10 | ||||||
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
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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. 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. 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. 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), MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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. |
| 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. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y450. 3 interactions. |
| STRING | 9606.ENSP00000356811. |
PTM databases | |
| PhosphoSite | Q9Y450. |
Polymorphism databases | |
| DMDM | 68566500. |
Proteomic databases | |
| PaxDb | Q9Y450. |
| PeptideAtlas | Q9Y450. |
| PRIDE | Q9Y450. |
Protocols and materials databases | |
| DNASU | 10767. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000367822; ENSP00000356796; ENSG00000112339. ENST00000367826; ENSP00000356800; ENSG00000112339. ENST00000367837; ENSP00000356811; ENSG00000112339. |
| GeneID | 10767. |
| KEGG | hsa:10767. |
| UCSC | uc003qey.2. human. uc003qfa.2. human. uc011eda.1. human. |
Organism-specific databases | |
| CTD | 10767. |
| GeneCards | GC06M135281. |
| HGNC | HGNC:4834. HBS1L. |
| HPA | HPA029728. HPA029729. |
| MIM | 612450. gene. |
| neXtProt | NX_Q9Y450. |
| PharmGKB | PA29209. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5256. |
| HOVERGEN | HBG000179. |
| InParanoid | Q9Y450. |
| KO | K14416. |
| OMA | KIEAGYI. |
| 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. EF_GTP-bd_dom. 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] |
| 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 | |
| ChiTaRS | HBS1L. human. |
| GenomeRNAi | 10767. |
| NextBio | 40885. |
| PMAP-CutDB | Q9Y450. |
| SOURCE | Search... |
Entry information
| Entry name | HBS1L_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y450 Secondary accession number(s): B7Z365 Q9UPW3 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
