Q9Y250 (LZTS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 84.
History...
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Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Leucine zipper putative tumor suppressor 1 Alternative name(s): F37/esophageal cancer-related gene-coding leucine-zipper motif Fez1 | ||||
| Gene names |
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| 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 | 596 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 | Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor. Ref.1 Ref.4 Ref.5 |
| Subunit structure | Binds EEF1G, TLK2 and CDK1. |
| Subcellular location | Cytoplasm By similarity. Cell membrane By similarity. Cell projection › dendritic spine By similarity. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density By similarity. Cell junction › synapse By similarity. Note: Associated with the plasma membrane and with microtubules. Detected in dendritic spines, especially in the postsynaptic density By similarity. Ref.5 |
| Tissue specificity | Highly expressed in testis, prostate, spleen, thymus, ovary and brain. Detected at lower levels in heart, placenta, small intestine, colon, liver, kidney, skeletal muscle and pancreas. Not detectable in primary tumors from breast and prostate and in many cancer cell lines. Ref.1 |
| Post-translational modification | Phorphorylated on serine residues. Hyperphosphorylated by the cAMP-dependent kinase PKA during cell-cycle progression. Ref.5 |
| Involvement in disease | Defects in LZTS1 may be a cause of esophageal cancer (ESCR) [MIM:133239]. A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. Ref.1 |
| Miscellaneous | Defects in LZTS1 are found in many types of tumors. |
| Sequence similarities | Belongs to the LZTS family. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CDC25C | P30307 | 2 | EBI-1216080,EBI-974439 |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y250-1) 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: Q9Y250-2) The sequence of this isoform differs from the canonical sequence as follows: 505-527: Missing. | ||||||
| Isoform 3 (identifier: Q9Y250-3) The sequence of this isoform differs from the canonical sequence as follows: 471-503: Missing. | ||||||
| Isoform 4 (identifier: Q9Y250-4) The sequence of this isoform differs from the canonical sequence as follows: 468-526: Missing. | ||||||
| Isoform 5 (identifier: Q9Y250-5) The sequence of this isoform differs from the canonical sequence as follows: 454-545: Missing. | ||||||
| Isoform 6 (identifier: Q9Y250-6) The sequence of this isoform differs from the canonical sequence as follows: 186-571: Missing. | ||||||
| Isoform 7 (identifier: Q9Y250-7) The sequence of this isoform differs from the canonical sequence as follows: 55-76: SSSKMGKSEDFFYIKVSQKARG → AMTRCPRASSMSGSCGRRRRRR 77-596: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 596 | 595 | Leucine zipper putative tumor suppressor 1 | PRO_0000182971 | |||||
Regions | |||||||||
| Coiled coil | 256 – 374 | 119 | Potential | ||||||
Amino acid modifications | |||||||||
| Lipidation | 2 | 1 | N-myristoyl glycine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 55 – 76 | 22 | SSSKM…QKARG → AMTRCPRASSMSGSCGRRRR RR in isoform 7. | VSP_009940 | |||||
| Alternative sequence | 77 – 596 | 520 | Missing in isoform 7. | VSP_009941 | |||||
| Alternative sequence | 186 – 571 | 386 | Missing in isoform 6. | VSP_009942 | |||||
| Alternative sequence | 454 – 545 | 92 | Missing in isoform 5. | VSP_009943 | |||||
| Alternative sequence | 468 – 526 | 59 | Missing in isoform 4. | VSP_009944 | |||||
| Alternative sequence | 471 – 503 | 33 | Missing in isoform 3. | VSP_009945 | |||||
| Alternative sequence | 505 – 527 | 23 | Missing in isoform 2. | VSP_009946 | |||||
| Natural variant | 29 | 1 | S → P Found in an esophageal cancer sample; esophageal squamous cell carcinoma; somatic mutation. Ref.1 Corresponds to variant rs28937897 [ dbSNP | Ensembl ]. | VAR_018274 | |||||
| Natural variant | 50 | 1 | S → F. Corresponds to variant rs34620053 [ dbSNP | Ensembl ]. | VAR_053490 | |||||
| Natural variant | 119 | 1 | K → E Found in an esophageal cancer sample; esophageal squamous cell carcinoma; somatic mutation. Ref.1 | VAR_018275 | |||||
| Natural variant | 475 | 1 | L → V. Corresponds to variant rs723874 [ dbSNP | Ensembl ]. | VAR_018276 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors." Ishii H., Baffa R., Numata S., Murakumo Y., Rattan S., Inoue H., Mori M., Fidanza V., Alder H., Croce C.M. Proc. Natl. Acad. Sci. U.S.A. 96:3928-3933(1999) [PubMed: 10097140] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6 AND 7), INVOLVEMENT IN ESCR, VARIANTS PRO-29 AND GLU-119, FUNCTION, TISSUE SPECIFICITY. |
| [2] | 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]. |
| [3] | "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: Fetal brain. |
| [4] | "Functional identification of LZTS1 as a candidate prostate tumor suppressor gene on human chromosome 8p22." Cabeza-Arvelaiz Y., Sepulveda J.L., Lebovitz R.M., Thompson T.C., Chinault A.C. Oncogene 20:4169-4179(2001) [PubMed: 11464283] [Abstract] Cited for: FUNCTION, ALTERNATIVE SPLICING. |
| [5] | "FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis." Ishii H., Vecchione A., Murakumo Y., Baldassarre G., Numata S., Trapasso F., Alder H., Baffa R., Croce C.M. Proc. Natl. Acad. Sci. U.S.A. 98:10374-10379(2001) [PubMed: 11504921] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION, SUBCELLULAR LOCATION, INTERACTION WITH EEF1G AND CDK1. |
| [6] | "FEZ1 dimerization and interaction with transcription regulatory proteins involves its coiled-coil region." Assmann E.M., Alborghetti M.R., Camargo M.E.R., Kobarg J. J. Biol. Chem. 281:9869-9881(2006) [PubMed: 16484223] [Abstract] Cited for: INTERACTION WITH TLK2. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF123652 mRNA. Translation: AAD23833.1. AF123653 Genomic DNA. Translation: AAD23834.1. AF123654 mRNA. Translation: AAD23835.1. AF123655 mRNA. Translation: AAD23836.1. AF123656 mRNA. Translation: AAD23837.1. AF123657 mRNA. Translation: AAD23838.1. AF123658 mRNA. Translation: AAD23839.1. AF123659 mRNA. Translation: AAD23840.1. CH471080 Genomic DNA. Translation: EAW63753.1. CH471080 Genomic DNA. Translation: EAW63755.1. BC075006 mRNA. Translation: AAH75006.1. BC075007 mRNA. Translation: AAH75007.1. |
| IPI | IPI00026058. IPI00410061. IPI00410062. IPI00410063. IPI00410064. IPI00410065. IPI00410066. |
| RefSeq | NP_066300.1. NM_021020.2. |
| UniGene | Hs.521432. |
3D structure databases | |
| ProteinModelPortal | Q9Y250. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y250. 1 interaction. |
| STRING | Q9Y250. |
PTM databases | |
| PhosphoSite | Q9Y250. |
Polymorphism databases | |
| DMDM | 46396556. |
Proteomic databases | |
| PRIDE | Q9Y250. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000265801; ENSP00000265801; ENSG00000061337. ENST00000381569; ENSP00000370981; ENSG00000061337. |
| GeneID | 11178. |
| KEGG | hsa:11178. |
| UCSC | uc003wzr.1. human. uc010ltg.1. human. |
Organism-specific databases | |
| CTD | 11178. |
| GeneCards | GC08M020147. |
| HGNC | HGNC:13861. LZTS1. |
| HPA | HPA006294. HPA022046. |
| MIM | 133239. phenotype. 606551. gene. |
| neXtProt | NX_Q9Y250. |
| PharmGKB | PA30507. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG13808. |
| GeneTree | ENSGT00510000046769. |
| HOVERGEN | HBG052381. |
| InParanoid | Q9Y250. |
| OMA | KSQRTQQ. |
| OrthoDB | EOG4F1X32. |
| PhylomeDB | Q9Y250. |
Enzyme and pathway databases | |
| Reactome | REACT_1788. Transcription. |
Gene expression databases | |
| ArrayExpress | Q9Y250. |
| Bgee | Q9Y250. |
| CleanEx | HS_FEZ1. HS_LZTS1. |
| Genevestigator | Q9Y250. |
| GermOnline | ENSG00000061337. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR009638. Fez1. [Graphical view] |
| Pfam | PF06818. Fez1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 42535. |
| SOURCE | Search... |
Entry information
| Entry name | LZTS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y250 Secondary accession number(s): D3DSQ6 Q9Y5W2 | ||||||||
| 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 8 Human chromosome 8: 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 |