Q92616 (GCN1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Translational activator GCN1 Short name=HsGCN1 Alternative name(s): GCN1-like protein 1 | ||||
| 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 | 2671 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Acts as a translation activator that mediates translational control and perform an EF3-related function on the ribosome by regulating GCN2 protein kinase (EIF2AK1-4) activity By similarity. |
| Subunit structure | Interacts with IMPACT; prevents the interaction with GCN2 protein kinase (EIF2AK1-4) By similarity. |
| Tissue specificity | Ubiquitously expressed. Ref.1 |
| Sequence similarities | Belongs to the GCN1 family. Contains 24 HEAT repeats. |
| Sequence caution | The sequence AAC51648.1 differs from that shown. Reason: Frameshift at position 2657. The sequence AAC83183.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAA13209.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Translation regulation |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | regulation of translation Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | ribosome Non-traceable author statement Ref.7. Source: UniProtKB |
| Molecular_function | translation factor activity, nucleic acid binding Non-traceable author statement Ref.7. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.5 | ||||||
| Chain | 2 – 2671 | 2670 | Translational activator GCN1 | PRO_0000087443 | |||||
Regions | |||||||||
| Repeat | 257 – 294 | 38 | HEAT 1 | ||||||
| Repeat | 295 – 331 | 37 | HEAT 2 | ||||||
| Repeat | 460 – 503 | 44 | HEAT 3 | ||||||
| Repeat | 1078 – 1115 | 38 | HEAT 4 | ||||||
| Repeat | 1290 – 1332 | 43 | HEAT 5 | ||||||
| Repeat | 1335 – 1372 | 38 | HEAT 6 | ||||||
| Repeat | 1455 – 1492 | 38 | HEAT 7 | ||||||
| Repeat | 1493 – 1530 | 38 | HEAT 8 | ||||||
| Repeat | 1534 – 1571 | 38 | HEAT 9 | ||||||
| Repeat | 1573 – 1609 | 37 | HEAT 10 | ||||||
| Repeat | 1611 – 1648 | 38 | HEAT 11 | ||||||
| Repeat | 1653 – 1690 | 38 | HEAT 12 | ||||||
| Repeat | 1773 – 1810 | 38 | HEAT 13 | ||||||
| Repeat | 1812 – 1848 | 37 | HEAT 14 | ||||||
| Repeat | 1921 – 1958 | 38 | HEAT 15 | ||||||
| Repeat | 1959 – 1996 | 38 | HEAT 16 | ||||||
| Repeat | 2001 – 2038 | 38 | HEAT 17 | ||||||
| Repeat | 2039 – 2076 | 38 | HEAT 18 | ||||||
| Repeat | 2188 – 2225 | 38 | HEAT 19 | ||||||
| Repeat | 2259 – 2296 | 38 | HEAT 20 | ||||||
| Repeat | 2339 – 2380 | 42 | HEAT 21 | ||||||
| Repeat | 2422 – 2459 | 38 | HEAT 22 | ||||||
| Repeat | 2560 – 2583 | 24 | HEAT 23 | ||||||
| Repeat | 2588 – 2625 | 38 | HEAT 24 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.5 | ||||||
| Modified residue | 786 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Natural variant | 2155 | 1 | Y → D. Ref.1 Ref.4 Ref.6 Ref.7 Ref.10 Corresponds to variant rs3864938 [ dbSNP | Ensembl ]. | VAR_062228 | |||||
Experimental info | |||||||||
| Sequence conflict | 292 | 1 | L → F in BAA13209. Ref.1 | ||||||
| Sequence conflict | 292 | 1 | L → F in AAI53882. Ref.4 | ||||||
| Sequence conflict | 842 | 1 | A → G in AAC51648. Ref.7 | ||||||
| Sequence conflict | 1584 | 1 | A → V in AAC51648. Ref.7 | ||||||
| Sequence conflict | 1683 | 1 | A → V in AAC51648. Ref.7 | ||||||
| Sequence conflict | 1760 | 1 | F → S in AAD00655. Ref.6 | ||||||
| Sequence conflict | 2298 | 1 | A → V in AAC51648. Ref.7 | ||||||
| Sequence conflict | 2486 | 1 | S → T in AAD00655. Ref.6 | ||||||
| Sequence conflict | 2549 | 1 | A → R in AAC51648. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], TISSUE SPECIFICITY, VARIANT ASP-2155. Tissue: Brain. |
| [2] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [3] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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], VARIANT ASP-2155. Tissue: Brain, Liver and Skin. |
| [5] | Bienvenut W.V. Submitted (MAR-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-13; 69-87; 221-229; 241-251; 314-323; 568-576; 617-635; 822-829; 1201-1208; 1485-1496; 1604-1622; 1735-1745; 1960-1973; 2093-2107; 2151-2161; 2192-2199; 2402-2418 AND 2522-2530, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: B-cell lymphoma. |
| [6] | "Transcription map of the 5cM region surrounding the hepatocyte nuclear factor-1a/MODY3 gene on chromosome 12." Yamagata K., Oda N., Furuta H., Vaxillaire M., Southam L., Boriraj V., Chen X., Oda Y., Takeda J., Yamada S., Nishigori H., Lebeau M.M., Lathrop M., Cox R.D., Bell G.I. Submitted (FEB-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-359 AND 1678-2671, VARIANT ASP-2155. |
| [7] | "Evidence that GCN1 and GCN20, translational regulators of GCN4, function on elongating ribosomes in activation of eIF2alpha kinase GCN2." Marton M.J., Vazquez de Aldana C.R., Qiu H., Chakraburtty K., Hinnebusch A.G. Mol. Cell. Biol. 17:4474-4489(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 842-2671, VARIANT ASP-2155. Tissue: Skeletal muscle. |
| [8] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-786, MASS SPECTROMETRY. 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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [10] | "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: VARIANT [LARGE SCALE ANALYSIS] ASP-2155, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | D86973 mRNA. Translation: BAA13209.2. Different initiation. AC004812 Genomic DNA. Translation: AAC83183.1. Sequence problems. BC021129 mRNA. Translation: AAH21129.1. BC032335 mRNA. Translation: AAH32335.1. BC046177 mRNA. Translation: AAH46177.1. BC064346 mRNA. Translation: AAH64346.1. BC153881 mRNA. Translation: AAI53882.1. U88836 mRNA. Translation: AAD00655.1. U88837 mRNA. Translation: AAD00656.1. U77700 mRNA. Translation: AAC51648.1. Frameshift. |
| IPI | IPI00001159. |
| RefSeq | NP_006827.1. NM_006836.1. |
| UniGene | Hs.298716. |
3D structure databases | |
| ProteinModelPortal | Q92616. |
| SMR | Q92616. Positions 1454-1700, 1971-2032. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q92616. 20 interactions. |
| MINT | MINT-1144027. |
PTM databases | |
| PhosphoSite | Q92616. |
Polymorphism databases | |
| DMDM | 296439506. |
Proteomic databases | |
| PaxDb | Q92616. |
| PRIDE | Q92616. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000300648; ENSP00000300648; ENSG00000089154. |
| GeneID | 10985. |
| KEGG | hsa:10985. |
| UCSC | uc001txo.3. human. |
Organism-specific databases | |
| CTD | 10985. |
| GeneCards | GC12M120565. |
| HGNC | HGNC:4199. GCN1L1. |
| HPA | HPA018799. HPA019648. HPA024367. |
| MIM | 605614. gene. |
| neXtProt | NX_Q92616. |
| PharmGKB | PA28616. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG325174. |
| HOVERGEN | HBG081550. |
| InParanoid | Q92616. |
| OMA | KEDAGGM. |
| OrthoDB | EOG4DV5KB. |
Gene expression databases | |
| ArrayExpress | Q92616. |
| Bgee | Q92616. |
| Genevestigator | Q92616. |
| GermOnline | ENSG00000089154. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.10.10. 8 hits. |
| InterPro | IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000225. Armadillo. IPR022716. DUF3554. IPR026827. ECM29/GCN1. IPR021133. HEAT_type_2. [Graphical view] |
| PANTHER | PTHR23346. PTHR23346. 1 hit. |
| Pfam | PF12074. DUF3554. 1 hit. [Graphical view] |
| SMART | SM00185. ARM. 3 hits. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 4 hits. |
| PROSITE | PS50077. HEAT_REPEAT. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | GCN1L1. human. |
| GenomeRNAi | 10985. |
| NextBio | 41737. |
| SOURCE | Search... |
Entry information
| Entry name | GCN1L_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92616 Secondary accession number(s): A8KAY1 Q9UE60 | ||||||||
| 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 12 Human chromosome 12: 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
