O75558 (STX11_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Syntaxin-11 | ||
| Gene names |
| ||
| 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 | 287 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. |
| Subunit structure | Interacts with the SNARE proteins SNAP-23 and VAMP. |
| Subcellular location | Membrane; Peripheral membrane protein Potential. Golgi apparatus › trans-Golgi network membrane; Peripheral membrane protein By similarity. |
| Involvement in disease | Familial hemophagocytic lymphohistiocytosis 4 (FHL4) [MIM:603552]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. |
| Sequence similarities | Belongs to the syntaxin family. Contains 1 t-SNARE coiled-coil homology domain. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Familial hemophagocytic lymphohistiocytosis |
| Domain | Coiled coil |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cellular membrane fusion Traceable author statement Ref.2. Source: ProtInc intracellular protein transportInferred from electronic annotation. Source: InterPro vesicle-mediated transportInferred from electronic annotation. Source: InterPro |
| Cellular_component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | SNAP receptor activity Traceable author statement Ref.2. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 287 | 287 | Syntaxin-11 | PRO_0000210221 | |||||
Regions | |||||||||
| Domain | 204 – 266 | 63 | t-SNARE coiled-coil homology | ||||||
| Coiled coil | 41 – 71 | 31 | Potential | ||||||
Natural variations | |||||||||
| Natural variant | 31 | 1 | E → Q. Corresponds to variant rs1802414 [ dbSNP | Ensembl ]. | VAR_011995 | |||||
| Natural variant | 49 | 1 | R → Q. Corresponds to variant rs17073498 [ dbSNP | Ensembl ]. | VAR_029769 | |||||
| Natural variant | 204 | 1 | L → H. Corresponds to variant rs1133248 [ dbSNP | Ensembl ]. | VAR_011996 | |||||
| Natural variant | 277 | 1 | T → A. Corresponds to variant rs9496891 [ dbSNP | Ensembl ]. | VAR_029770 | |||||
Experimental info | |||||||||
| Sequence conflict | 61 | 1 | D → N in AAD02107. Ref.1 | ||||||
| Sequence conflict | 93 – 94 | 2 | IK → FR in AAC24031. Ref.2 | ||||||
| Sequence conflict | 96 – 97 | 2 | RG → PP in AAD02107. Ref.1 | ||||||
| Sequence conflict | 103 – 104 | 2 | KL → NV in AAD02107. Ref.1 | ||||||
| Sequence conflict | 121 – 126 | 6 | HSAVAR → ALGSGG in AAD02107. Ref.1 | ||||||
| Sequence conflict | 200 – 220 | 21 | ARAAL…RLESR → RGPPTTRSRAATANCCAWRA A in AAC24031. Ref.2 | ||||||
| Sequence conflict | 200 | 1 | A → V in AAD02107. Ref.1 | ||||||
| Sequence conflict | 215 | 1 | L → V in AAD02107. Ref.1 | ||||||
| Sequence conflict | 220 | 1 | R → A in AAD02107. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain." Tang B.L., Low D.Y.H., Hong W. Biochem. Biophys. Res. Commun. 245:627-632(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Seven novel mammalian SNARE proteins localize to distinct membrane compartments." Advani R.J., Bae H.-R., Bock J.B., Chao D.S., Doung Y.-C., Prekeris R., Yoo J.-S., Scheller R.H. J. Biol. Chem. 273:10317-10324(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network." Valdez A.C., Cabaniols J.-P., Brown M.J., Roche P.A. J. Cell Sci. 112:845-854(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Placenta. |
| [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]. Tissue: Brain. |
| [7] | "Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11." zur Stadt U., Schmidt S., Kasper B., Beutel K., Diler A.S., Henter J.-I., Kabisch H., Schneppenheim R., Nuernberg P., Janka G., Hennies H.C. Hum. Mol. Genet. 14:827-834(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN FHL4. |
| + | Additional computationally mapped references. |
Web resources
| STX11base STX11 mutation db |
| GeneReviews |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF038898 mRNA. Translation: AAD02107.1. AF044309 mRNA. Translation: AAC24031.1. AF071504 mRNA. Translation: AAC24004.1. AL135917 Genomic DNA. Translation: CAI22980.1. CH471051 Genomic DNA. Translation: EAW47849.1. CH471051 Genomic DNA. Translation: EAW47850.1. BC033519 mRNA. Translation: AAH33519.1. |
| IPI | IPI00026128. |
| PIR | JE0094. |
| RefSeq | NP_003755.2. NM_003764.3. |
| UniGene | Hs.118958. |
3D structure databases | |
| ProteinModelPortal | O75558. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O75558. 12 interactions. |
| MINT | MINT-1398569. |
| STRING | 9606.ENSP00000356540. |
PTM databases | |
| PhosphoSite | O75558. |
2D gel databases | |
| OGP | O75558. |
Proteomic databases | |
| PaxDb | O75558. |
| PRIDE | O75558. |
Protocols and materials databases | |
| DNASU | 8676. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000367568; ENSP00000356540; ENSG00000135604. |
| GeneID | 8676. |
| KEGG | hsa:8676. |
| UCSC | uc003qks.4. human. |
Organism-specific databases | |
| CTD | 8676. |
| GeneCards | GC06P144513. |
| HGNC | HGNC:11429. STX11. |
| HPA | HPA007992. |
| MIM | 603552. phenotype. 605014. gene. |
| neXtProt | NX_O75558. |
| Orphanet | 540. Familial hemophagocytic lymphohistiocytosis. |
| PharmGKB | PA36229. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG306476. |
| HOGENOM | HOG000286023. |
| HOVERGEN | HBG099780. |
| InParanoid | O75558. |
| KO | K08487. |
| OMA | PHEDIVF. |
| OrthoDB | EOG4W9J4Q. |
| PhylomeDB | O75558. |
Enzyme and pathway databases | |
| Reactome | REACT_116125. Disease. REACT_13685. Neuronal System. |
Gene expression databases | |
| Bgee | O75558. |
| CleanEx | HS_STX11. |
| Genevestigator | O75558. |
| GermOnline | ENSG00000135604. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006012. Syntaxin/epimorphin_CS. IPR006011. Syntaxin_N. IPR010989. t-SNARE. IPR000727. T_SNARE_dom. [Graphical view] |
| Pfam | PF05739. SNARE. 1 hit. PF00804. Syntaxin. 1 hit. [Graphical view] |
| SMART | SM00503. SynN. 1 hit. SM00397. t_SNARE. 1 hit. [Graphical view] |
| SUPFAM | SSF47661. t-snare. 1 hit. |
| PROSITE | PS00914. SYNTAXIN. 1 hit. PS50192. T_SNARE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 8676. |
| NextBio | 32547. |
| SOURCE | Search... |
Entry information
| Entry name | STX11_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75558 Secondary accession number(s): E1P598 Q5TCL6 | ||||||||
| 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
