Q53EL9 (SEZ6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 65.
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 protein 6 homolog Short name=SEZ-6 Short name=hSEZ-6 | ||
| 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 | 994 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 play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity By similarity. |
| Subcellular location | Cell membrane; Single-pass type I membrane protein By similarity. Note: Localized on dendrites and in the synaptic and postsynaptic fraction By similarity. |
| Post-translational modification | Glycosylated By similarity. Ref.6 |
| Sequence similarities | Belongs to the SEZ6 family. Contains 2 CUB domains. Contains 5 Sushi (CCP/SCR) domains. |
| Sequence caution | The sequence AAK71497.1 differs from that shown. Reason: Frameshift at positions 902 and 911. The sequence AAM22213.1 differs from that shown. Reason: Frameshift at positions 902 and 911. The sequence BAB70826.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB70912.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane 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) | |
| Biological_process | negative regulation of dendrite development Inferred from electronic annotation. Source: Compara positive regulation of dendrite developmentInferred from electronic annotation. Source: Compara regulation of excitatory postsynaptic membrane potentialInferred from electronic annotation. Source: Compara |
| Cellular_component | dendritic shaft Inferred from electronic annotation. Source: Compara dendritic spineInferred from electronic annotation. Source: Compara extracellular spaceInferred from electronic annotation. Source: Compara 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 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q53EL9-1) 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: Q53EL9-2) The sequence of this isoform differs from the canonical sequence as follows: 1-125: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q53EL9-3) The sequence of this isoform differs from the canonical sequence as follows: 985-994: SLSFAGDERI → ETREYEVSI | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q53EL9-4) Also known as: SEZ6b; The sequence of this isoform differs from the canonical sequence as follows: 493-508: LPIEGLLSSGKHFFVE → PPPPPPLQPHYHRVSV 509-994: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 19 | 19 | Potential | ||||||||
| Chain | 20 – 994 | 975 | Seizure protein 6 homolog | PRO_0000341346 | |||||||
Regions | |||||||||||
| Topological domain | 20 – 925 | 906 | Extracellular Potential | ||||||||
| Transmembrane | 926 – 946 | 21 | Helical; Potential | ||||||||
| Topological domain | 947 – 994 | 48 | Cytoplasmic Potential | ||||||||
| Domain | 355 – 414 | 60 | Sushi 1 | ||||||||
| Domain | 416 – 527 | 112 | CUB 1 | ||||||||
| Domain | 530 – 591 | 62 | Sushi 2 | ||||||||
| Domain | 593 – 704 | 112 | CUB 2 | ||||||||
| Domain | 708 – 767 | 60 | Sushi 3 | ||||||||
| Domain | 769 – 832 | 64 | Sushi 4 | ||||||||
| Domain | 836 – 897 | 62 | Sushi 5 | ||||||||
| Region | 38 – 47 | 10 | O-glycosylated at two sites | ||||||||
| Region | 59 – 63 | 5 | O-glycosylated at two sites | ||||||||
| Compositional bias | 90 – 188 | 99 | Pro-rich | ||||||||
| Compositional bias | 211 – 240 | 30 | Thr-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 289 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 399 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 436 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 541 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 357 ↔ 397 | By similarity | |||||||||
| Disulfide bond | 383 ↔ 412 | By similarity | |||||||||
| Disulfide bond | 416 ↔ 443 | By similarity | |||||||||
| Disulfide bond | 532 ↔ 574 | By similarity | |||||||||
| Disulfide bond | 559 ↔ 589 | By similarity | |||||||||
| Disulfide bond | 593 ↔ 619 | By similarity | |||||||||
| Disulfide bond | 710 ↔ 752 | By similarity | |||||||||
| Disulfide bond | 738 ↔ 765 | By similarity | |||||||||
| Disulfide bond | 771 ↔ 813 | By similarity | |||||||||
| Disulfide bond | 799 ↔ 830 | By similarity | |||||||||
| Disulfide bond | 838 ↔ 880 | By similarity | |||||||||
| Disulfide bond | 866 ↔ 895 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 125 | 125 | Missing in isoform 2. | VSP_034250 | |||||||
| Alternative sequence | 493 – 508 | 16 | LPIEG…HFFVE → PPPPPPLQPHYHRVSV in isoform 4. | VSP_034251 | |||||||
| Alternative sequence | 509 – 994 | 486 | Missing in isoform 4. | VSP_034252 | |||||||
| Alternative sequence | 985 – 994 | 10 | SLSFAGDERI → ETREYEVSI in isoform 3. | VSP_034253 | |||||||
| Natural variant | 300 | 1 | V → M. Ref.7 | VAR_044048 | |||||||
| Natural variant | 330 | 1 | A → V. Ref.7 | VAR_044049 | |||||||
| Natural variant | 546 | 1 | T → A. Corresponds to variant rs1976165 [ dbSNP | Ensembl ]. | VAR_044050 | |||||||
| Natural variant | 592 | 1 | V → A. Ref.7 | VAR_044051 | |||||||
| Natural variant | 736 | 1 | Y → N. Ref.7 | VAR_044052 | |||||||
| Natural variant | 756 | 1 | L → V. Ref.7 | VAR_044053 | |||||||
| Natural variant | 806 | 1 | M → T. Ref.2 Corresponds to variant rs12941884 [ dbSNP | Ensembl ]. | VAR_044054 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 78 | 1 | Q → H in AAM22213. Ref.1 | ||||||||
| Sequence conflict | 78 | 1 | Q → H in AAM22214. Ref.1 | ||||||||
| Sequence conflict | 78 | 1 | Q → H in AAK71497. Ref.1 | ||||||||
| Sequence conflict | 93 | 1 | P → S in AAM22213. Ref.1 | ||||||||
| Sequence conflict | 93 | 1 | P → S in AAM22214. Ref.1 | ||||||||
| Sequence conflict | 93 | 1 | P → S in AAK71497. Ref.1 | ||||||||
| Sequence conflict | 141 | 1 | S → SPD in AAM22213. Ref.1 | ||||||||
| Sequence conflict | 141 | 1 | S → SPD in AAM22214. Ref.1 | ||||||||
| Sequence conflict | 141 | 1 | S → SPD in AAK71497. Ref.1 | ||||||||
| Sequence conflict | 288 | 1 | Q → K in AAM22213. Ref.1 | ||||||||
| Sequence conflict | 288 | 1 | Q → K in AAK71497. Ref.1 | ||||||||
| Sequence conflict | 359 | 1 | F → L in BAD97340. Ref.3 | ||||||||
| Sequence conflict | 414 – 417 | 4 | AACG → GECP in AAM22213. Ref.1 | ||||||||
| Sequence conflict | 414 – 417 | 4 | AACG → GECP in AAK71497. Ref.1 | ||||||||
| Sequence conflict | 417 | 1 | G → P in AAM22213. Ref.1 | ||||||||
| Sequence conflict | 417 | 1 | G → P in AAK71497. Ref.1 | ||||||||
| Sequence conflict | 815 | 1 | D → G in BAB70912. Ref.2 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | Huang X.H., Guo J.H., Yu L. Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Brain and Oligodendroglioma. |
| [2] | "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 2), VARIANT THR-806. Tissue: Brain and Cerebellum. |
| [3] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 22-994 (ISOFORM 3). Tissue: Brain. |
| [6] | "LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins." Halim A., Ruetschi U., Larson G., Nilsson J. J. Proteome Res. 12:573-584(2013) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION, MASS SPECTROMETRY. |
| [7] | "Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene." Yu Z.-L., Jiang J.-M., Wu D.-H., Xie H.-J., Jiang J.-J., Zhou L., Peng L., Bao G.-S. J. Neurosci. Res. 85:166-172(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-300; VAL-330; ALA-592; ASN-736 AND VAL-756. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY038048 mRNA. Translation: AAK71497.1. Frameshift. AF502129 mRNA. Translation: AAM22213.1. Frameshift. AF502130 mRNA. Translation: AAM22214.1. AK054913 mRNA. Translation: BAB70826.1. Different initiation. AK055383 mRNA. Translation: BAB70912.1. Different initiation. AK091522 mRNA. Translation: BAC03684.1. AK223620 mRNA. Translation: BAD97340.1. AC024267 Genomic DNA. No translation available. AC024619 Genomic DNA. No translation available. AL834405 mRNA. Translation: CAD39067.1. |
| IPI | IPI00154734. IPI00748395. IPI00895805. IPI00895924. |
| RefSeq | NP_001092105.1. NM_001098635.1. NP_849191.3. NM_178860.4. |
| UniGene | Hs.21837. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1NT0 based on UniProtKB Q9QX89. |
| ProteinModelPortal | Q53EL9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q53EL9. 1 interaction. |
| MINT | MINT-1424044. |
PTM databases | |
| PhosphoSite | Q53EL9. |
Polymorphism databases | |
| DMDM | 190410975. |
Proteomic databases | |
| PaxDb | Q53EL9. |
| PRIDE | Q53EL9. |
Protocols and materials databases | |
| DNASU | 124925. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000317338; ENSP00000312942; ENSG00000063015. ENST00000360295; ENSP00000353440; ENSG00000063015. |
| GeneID | 124925. |
| KEGG | hsa:124925. |
| UCSC | uc002hdp.2. human. uc010cry.1. human. |
Organism-specific databases | |
| CTD | 124925. |
| GeneCards | GC17M027281. |
| H-InvDB | HIX0013668. |
| HGNC | HGNC:15955. SEZ6. |
| HPA | HPA007703. HPA011777. |
| neXtProt | NX_Q53EL9. |
| PharmGKB | PA38065. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG271485. |
| HOVERGEN | HBG057885. |
| InParanoid | Q53EL9. |
| OMA | SHFKLFT. |
Gene expression databases | |
| ArrayExpress | Q53EL9. |
| Bgee | Q53EL9. |
| CleanEx | HS_SEZ6. |
| Genevestigator | Q53EL9. |
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. 2 hits. [Graphical view] |
| SUPFAM | SSF57535. Complement_control_module. 5 hits. SSF49854. CUB. 3 hits. |
| PROSITE | PS01180. CUB. 2 hits. PS50923. SUSHI. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 124925. |
| NextBio | 81423. |
Entry information
| Entry name | SEZ6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q53EL9 Secondary accession number(s): B6ZDN1 Q96NQ3 | ||||||||
| 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 17 Human chromosome 17: 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
