Q6UXD5 (SE6L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 75.
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: Seizure 6-like protein 2 | ||||||
| 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 | 910 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 | May contribute to specialized endoplasmic reticulum functions in neurons By similarity. |
| Subcellular location | Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein By similarity. Note: Detected on cell surface of lung-cancer. Ref.6 |
| Induction | Increased expression in the majority of primary lung cancers and lung-cell lines tested. Ref.6 |
| Post-translational modification | O-glycosylated with core 1 or possibly core 8 glycans. |
| Miscellaneous | May serve as a prognostic marker for lung cancers. |
| Sequence similarities | Belongs to the SEZ6 family. Contains 3 CUB domains. Contains 5 Sushi (CCP/SCR) domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Endoplasmic reticulum Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal Sushi Transmembrane Transmembrane helix |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6UXD5-1) 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: Q6UXD5-2) Also known as: psk-3; The sequence of this isoform differs from the canonical sequence as follows: 72-141: Missing. | ||||||
| Isoform 3 (identifier: Q6UXD5-3) Also known as: psk-1; The sequence of this isoform differs from the canonical sequence as follows: 72-141: Missing. 830-830: V → VAYEELLDNRKLEV | ||||||
| Isoform 4 (identifier: Q6UXD5-4) Also known as: psk-2; The sequence of this isoform differs from the canonical sequence as follows: 72-141: Missing. 651-910: Missing. | ||||||
| Isoform 5 (identifier: Q6UXD5-5) The sequence of this isoform differs from the canonical sequence as follows: 27-70: Missing. 830-830: V → VAYEELLDNRKLEV | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q6UXD5-6) The sequence of this isoform differs from the canonical sequence as follows: 171-284: Missing. 829-829: K → KVAYEELLDNRKLE | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 27 | 27 | |||||||||
| Chain | 28 – 910 | 883 | Seizure 6-like protein 2 | PRO_0000333888 | |||||||
Regions | |||||||||||
| Topological domain | 28 – 844 | 817 | Extracellular Potential | ||||||||
| Transmembrane | 845 – 865 | 21 | Helical; Potential | ||||||||
| Topological domain | 866 – 910 | 45 | Cytoplasmic Potential | ||||||||
| Domain | 173 – 286 | 114 | CUB 1 | ||||||||
| Domain | 288 – 347 | 60 | Sushi 1 | ||||||||
| Domain | 349 – 459 | 111 | CUB 2 | ||||||||
| Domain | 462 – 525 | 64 | Sushi 2 | ||||||||
| Domain | 527 – 638 | 112 | CUB 3 | ||||||||
| Domain | 642 – 701 | 60 | Sushi 3 | ||||||||
| Domain | 703 – 766 | 64 | Sushi 4 | ||||||||
| Domain | 769 – 830 | 62 | Sushi 5 | ||||||||
| Region | 41 – 48 | 8 | O-glycosylated at one site | ||||||||
| Compositional bias | 70 – 146 | 77 | Pro-rich | ||||||||
| Compositional bias | 153 – 168 | 16 | Thr-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 176 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 222 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 247 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 332 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 355 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 373 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 473 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 517 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 641 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 173 ↔ 202 | By similarity | |||||||||
| Disulfide bond | 290 ↔ 330 | By similarity | |||||||||
| Disulfide bond | 316 ↔ 345 | By similarity | |||||||||
| Disulfide bond | 349 ↔ 376 | By similarity | |||||||||
| Disulfide bond | 464 ↔ 508 | By similarity | |||||||||
| Disulfide bond | 491 ↔ 523 | By similarity | |||||||||
| Disulfide bond | 527 ↔ 553 | By similarity | |||||||||
| Disulfide bond | 644 ↔ 686 | By similarity | |||||||||
| Disulfide bond | 672 ↔ 699 | By similarity | |||||||||
| Disulfide bond | 705 ↔ 747 | By similarity | |||||||||
| Disulfide bond | 733 ↔ 764 | By similarity | |||||||||
| Disulfide bond | 771 ↔ 813 | By similarity | |||||||||
| Disulfide bond | 799 ↔ 828 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 27 – 70 | 44 | Missing in isoform 5. | VSP_044739 | |||||||
| Alternative sequence | 72 – 141 | 70 | Missing in isoform 2, isoform 3 and isoform 4. | VSP_033595 | |||||||
| Alternative sequence | 171 – 284 | 114 | Missing in isoform 6. | VSP_045702 | |||||||
| Alternative sequence | 651 – 910 | 260 | Missing in isoform 4. | VSP_033597 | |||||||
| Alternative sequence | 829 | 1 | K → KVAYEELLDNRKLE in isoform 6. | VSP_045703 | |||||||
| Alternative sequence | 830 | 1 | V → VAYEELLDNRKLEV in isoform 3 and isoform 5. | VSP_033596 | |||||||
| Natural variant | 74 | 1 | R → P. Ref.2 Ref.3 Ref.5 Corresponds to variant rs11649499 [ dbSNP | Ensembl ]. | VAR_065205 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 228 | 1 | E → G in BAH11566. Ref.3 | ||||||||
| Sequence conflict | 398 | 1 | D → G in BAH11566. Ref.3 | ||||||||
| Sequence conflict | 494 | 1 | G → R in BAH11566. Ref.3 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of novel seizure-related proteins from the human brain." Schrotz-King P., King A., Nyborg Nielsen P., Andersen J., Kuster B., Mann M. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4). |
| [2] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-74. |
| [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 5), VARIANT PRO-74. Tissue: Cerebellum. |
| [4] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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 6), VARIANT PRO-74. Tissue: Brain. |
| [6] | "Characterization of SEZ6L2 cell-surface protein as a novel prognostic marker for lung cancer." Ishikawa N., Daigo Y., Takano A., Taniwaki M., Kato T., Tanaka S., Yasui W., Takeshima Y., Inai K., Nishimura H., Tsuchiya E., Kohno N., Nakamura Y. Cancer Sci. 97:737-745(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION, SUBCELLULAR LOCATION. |
| [7] | "Enrichment of glycopeptides for glycan structure and attachment site identification." Nilsson J., Rueetschi U., Halim A., Hesse C., Carlsohn E., Brinkmalm G., Larson G. Nat. Methods 6:809-811(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS], SIGNAL SEQUENCE CLEAVAGE SITE, STRUCTURE OF CARBOHYDRATES, MASS SPECTROMETRY. Tissue: Cerebrospinal fluid. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ245820 mRNA. Translation: CAB57950.1. AJ245821 mRNA. Translation: CAB57951.1. AJ245822 mRNA. Translation: CAB57952.1. AY358404 mRNA. Translation: AAQ88770.1. AK293675 mRNA. Translation: BAH11566.1. AC120114 Genomic DNA. No translation available. BC000567 mRNA. Translation: AAH00567.1. |
| IPI | IPI00018276. IPI00306470. IPI00419722. IPI00645828. IPI00892924. IPI01013810. |
| RefSeq | NP_001107571.1. NM_001114099.2. NP_001107572.1. NM_001114100.2. NP_001230261.1. NM_001243332.1. NP_001230262.1. NM_001243333.1. NP_036542.1. NM_012410.3. NP_963869.2. NM_201575.3. |
| UniGene | Hs.6314. |
3D structure databases | |
| ProteinModelPortal | Q6UXD5. |
| SMR | Q6UXD5. Positions 348-459, 469-829. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6UXD5. 5 interactions. |
| STRING | 9606.ENSP00000312550. |
PTM databases | |
| PhosphoSite | Q6UXD5. |
Polymorphism databases | |
| DMDM | 74749421. |
Proteomic databases | |
| PaxDb | Q6UXD5. |
| PRIDE | Q6UXD5. |
Protocols and materials databases | |
| DNASU | 26470. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000308713; ENSP00000312550; ENSG00000174938. ENST00000346932; ENSP00000319215; ENSG00000174938. ENST00000350527; ENSP00000310206; ENSG00000174938. ENST00000537485; ENSP00000439412; ENSG00000174938. |
| GeneID | 26470. |
| KEGG | hsa:26470. |
| UCSC | uc002dup.4. human. uc002duq.4. human. uc002dur.4. human. uc002dus.4. human. uc010ved.2. human. |
Organism-specific databases | |
| CTD | 26470. |
| GeneCards | GC16M029882. |
| HGNC | HGNC:30844. SEZ6L2. |
| neXtProt | NX_Q6UXD5. |
| PharmGKB | PA134924025. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG148801. |
| HOVERGEN | HBG057885. |
| InParanoid | Q6UXD5. |
| OMA | GIEIQVQ. |
| PhylomeDB | Q6UXD5. |
Enzyme and pathway databases | |
| SignaLink | Q6UXD5. |
Gene expression databases | |
| ArrayExpress | Q6UXD5. |
| Bgee | Q6UXD5. |
| CleanEx | HS_SEZ6L2. |
| Genevestigator | Q6UXD5. |
Family and domain databases | |
| Gene3D | 2.60.120.290. 3 hits. |
| InterPro | IPR000859. CUB_dom. IPR000436. Sushi_SCR_CCP. [Graphical view] |
| Pfam | PF00431. CUB. 2 hits. PF00084. Sushi. 5 hits. [Graphical view] |
| SMART | SM00032. CCP. 5 hits. SM00042. CUB. 3 hits. [Graphical view] |
| SUPFAM | SSF57535. Complement_control_module. 5 hits. SSF49854. CUB. 3 hits. |
| PROSITE | PS01180. CUB. 3 hits. PS50923. SUSHI. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 26470. |
| NextBio | 48715. |
Entry information
| Entry name | SE6L2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6UXD5 Secondary accession number(s): B7Z1N0 Q9UJ47 | ||||||||
| Entry history |
| ||||||||
| 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 16 Human chromosome 16: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
