Q9BYH1 (SE6L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 98.
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 | ||||||
| Gene names |
| ||||||
| 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 | 1024 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 | Endoplasmic reticulum membrane; Single-pass type I membrane protein By similarity. |
| Tissue specificity | Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines. |
| Sequence similarities | Belongs to the SEZ6 family. Contains 3 CUB domains. Contains 5 Sushi (CCP/SCR) domains. |
| Sequence caution | The sequence BAA76771.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal Sushi Transmembrane Transmembrane helix |
| PTM | Disulfide bond Glycoprotein |
| Technical term | 3D-structure 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 |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] Note: Experimental confirmation may be lacking for some isoforms. | ||||||
| Isoform 4 (identifier: Q9BYH1-1) 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 1 (identifier: Q9BYH1-2) The sequence of this isoform differs from the canonical sequence as follows: 1-227: Missing. 868-944: Missing. 1016-1024: ETREYEVSI → GTQKV | ||||||
| Isoform 2 (identifier: Q9BYH1-3) The sequence of this isoform differs from the canonical sequence as follows: 1-227: Missing. 943-943: Missing. 1016-1024: ETREYEVSI → GTQKV | ||||||
| Isoform 3 (identifier: Q9BYH1-4) The sequence of this isoform differs from the canonical sequence as follows: 803-867: IMYCTDPGEVDHSTRLISDPVLLVGTTIQYTCNPGFVLEGSSLLTCYSRETGTPIWTSRLPHCVS → T 933-943: Missing. | ||||||
| Isoform 5 (identifier: Q9BYH1-5) The sequence of this isoform differs from the canonical sequence as follows: 867-943: SEESLACDNP...QDSFEHALEV → L | ||||||
| Isoform 6 (identifier: Q9BYH1-6) The sequence of this isoform differs from the canonical sequence as follows: 943-943: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||
Molecule processing | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 28 | 28 | Potential | ||||||||||||||||||
| Chain | 29 – 1024 | 996 | Seizure 6-like protein | PRO_0000022323 | |||||||||||||||||
Regions | |||||||||||||||||||||
| Topological domain | 29 – 958 | 930 | Extracellular Potential | ||||||||||||||||||
| Transmembrane | 959 – 979 | 21 | Helical; Potential | ||||||||||||||||||
| Topological domain | 980 – 1024 | 45 | Cytoplasmic Potential | ||||||||||||||||||
| Domain | 281 – 389 | 109 | CUB 1 | ||||||||||||||||||
| Domain | 391 – 450 | 60 | Sushi 1 | ||||||||||||||||||
| Domain | 452 – 562 | 111 | CUB 2 | ||||||||||||||||||
| Domain | 565 – 626 | 62 | Sushi 2 | ||||||||||||||||||
| Domain | 628 – 739 | 112 | CUB 3 | ||||||||||||||||||
| Domain | 743 – 802 | 60 | Sushi 3 | ||||||||||||||||||
| Domain | 804 – 867 | 64 | Sushi 4 | ||||||||||||||||||
| Domain | 871 – 932 | 62 | Sushi 5 | ||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||
| Glycosylation | 311 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 328 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 350 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 435 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 458 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 474 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 514 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 576 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 618 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 674 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Glycosylation | 742 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||
| Disulfide bond | 281 ↔ 308 | By similarity | |||||||||||||||||||
| Disulfide bond | 393 ↔ 433 | By similarity | |||||||||||||||||||
| Disulfide bond | 419 ↔ 448 | By similarity | |||||||||||||||||||
| Disulfide bond | 567 ↔ 609 | By similarity | |||||||||||||||||||
| Disulfide bond | 594 ↔ 624 | By similarity | |||||||||||||||||||
| Disulfide bond | 745 ↔ 787 | By similarity | |||||||||||||||||||
| Disulfide bond | 773 ↔ 800 | By similarity | |||||||||||||||||||
| Disulfide bond | 806 ↔ 848 | By similarity | |||||||||||||||||||
| Disulfide bond | 834 ↔ 865 | By similarity | |||||||||||||||||||
| Disulfide bond | 873 ↔ 915 | By similarity | |||||||||||||||||||
| Disulfide bond | 901 ↔ 930 | By similarity | |||||||||||||||||||
Natural variations | |||||||||||||||||||||
| Alternative sequence | 1 – 227 | 227 | Missing in isoform 1 and isoform 2. | VSP_003976 | |||||||||||||||||
| Alternative sequence | 803 – 867 | 65 | IMYCT…PHCVS → T in isoform 3. | VSP_003981 | |||||||||||||||||
| Alternative sequence | 867 – 943 | 77 | SEESL…HALEV → L in isoform 5. | VSP_013022 | |||||||||||||||||
| Alternative sequence | 868 – 944 | 77 | Missing in isoform 1. | VSP_003977 | |||||||||||||||||
| Alternative sequence | 933 – 943 | 11 | Missing in isoform 3. | VSP_003978 | |||||||||||||||||
| Alternative sequence | 943 | 1 | Missing in isoform 2 and isoform 6. | VSP_003979 | |||||||||||||||||
| Alternative sequence | 1016 – 1024 | 9 | ETREYEVSI → GTQKV in isoform 1 and isoform 2. | VSP_003980 | |||||||||||||||||
| Natural variant | 52 | 1 | P → L. Corresponds to variant rs6004989 [ dbSNP | Ensembl ]. | VAR_043338 | |||||||||||||||||
| Natural variant | 185 | 1 | W → L. Corresponds to variant rs137203 [ dbSNP | Ensembl ]. | VAR_024348 | |||||||||||||||||
| Natural variant | 430 | 1 | M → I. Ref.7 Corresponds to variant rs663048 [ dbSNP | Ensembl ]. | VAR_020330 | |||||||||||||||||
| Natural variant | 671 | 1 | Q → H. Corresponds to variant rs586542 [ dbSNP | Ensembl ]. | VAR_043339 | |||||||||||||||||
Secondary structure | |||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||
| Beta strand | 759 – 762 | 4 | |||||||||||||||||||
| Beta strand | 768 – 771 | 4 | |||||||||||||||||||
| Beta strand | 778 – 780 | 3 | |||||||||||||||||||
| Beta strand | 784 – 787 | 4 | |||||||||||||||||||
| Beta strand | 793 – 795 | 3 | |||||||||||||||||||
| Beta strand | 799 – 801 | 3 | |||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line." Nishioka M., Kohno T., Takahashi M., Niki T., Yamada T., Sone S., Yokota J. Oncogene 19:6251-6260(2000) [PubMed: 11175339] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Brain. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [3] | "Reevaluating human gene annotation: a second-generation analysis of chromosome 22." Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I. Genome Res. 13:27-36(2003) [PubMed: 12529303] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Fetal brain. |
| [4] | "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: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). |
| [5] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). |
| [6] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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), VARIANT ILE-430. Tissue: Brain. |
| [8] | "A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer." Suzuki H., Gabrielson E., Chen W., Anbazhagan R., Van Engeland M., Weijenberg M.P., Herman J.G., Baylin S.B. Nat. Genet. 31:141-149(2002) [PubMed: 11992124] [Abstract] Cited for: GENE EXPRESSION REGULATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AB041736 mRNA. Translation: BAB40970.1. AB023144 mRNA. Translation: BAA76771.2. Different initiation. AL035545 mRNA. Translation: CAB37431.1. AL050253 mRNA. Translation: CAB43355.1. AY358405 mRNA. Translation: AAQ88771.1. CR456574 mRNA. Translation: CAG30460.1. AL022337, AL023513, AL078460 Genomic DNA. Translation: CAI17997.1. AL078460, AL022337, AL023513 Genomic DNA. Translation: CAI20266.1. AL023513, AL022337, AL078460 Genomic DNA. Translation: CAI19980.1. AL023513, AL022337, AL078460 Genomic DNA. Translation: CAQ08922.1. AL023513, AL022337, AL078460 Genomic DNA. Translation: CAQ08923.1. AL078460, AL022337, AL023513 Genomic DNA. Translation: CAQ08975.1. AL078460, AL022337, AL023513 Genomic DNA. Translation: CAQ08976.1. AL022337, AL023513, AL078460 Genomic DNA. Translation: CAQ10786.1. AL022337, AL023513, AL078460 Genomic DNA. Translation: CAQ10787.1. BC126115 mRNA. Translation: AAI26116.1. | ||||||||||||
| IPI | IPI00157417. IPI00163788. IPI00220333. IPI00220334. IPI00554736. IPI00879665. | ||||||||||||
| RefSeq | NP_001171702.1. NM_001184773.1. NP_001171703.1. NM_001184774.1. NP_001171704.1. NM_001184775.1. NP_001171705.1. NM_001184776.1. NP_001171706.1. NM_001184777.1. NP_066938.2. NM_021115.4. | ||||||||||||
| UniGene | Hs.194766. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9BYH1. | ||||||||||||
| SMR | Q9BYH1. Positions 280-933. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| STRING | Q9BYH1. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 22002000. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q9BYH1. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000248933; ENSP00000248933; ENSG00000100095. | ||||||||||||
| GeneID | 23544. | ||||||||||||
| KEGG | hsa:23544. | ||||||||||||
| UCSC | uc003acb.1. human. uc003acd.1. human. uc003ace.1. human. uc003acf.1. human. uc010gvc.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 23544. | ||||||||||||
| GeneCards | GC22P026565. | ||||||||||||
| H-InvDB | HIX0016322. | ||||||||||||
| HGNC | HGNC:10763. SEZ6L. | ||||||||||||
| MIM | 607021. gene. | ||||||||||||
| neXtProt | NX_Q9BYH1. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG14999. | ||||||||||||
| GeneTree | ENSGT00600000084043. | ||||||||||||
| HOVERGEN | HBG057885. | ||||||||||||
| InParanoid | Q9BYH1. | ||||||||||||
| OMA | MTVHSGQ. | ||||||||||||
| PhylomeDB | Q9BYH1. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q9BYH1. | ||||||||||||
| Bgee | Q9BYH1. | ||||||||||||
| Genevestigator | Q9BYH1. | ||||||||||||
| GermOnline | ENSG00000100095. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR016060. Complement_control_module. IPR000859. CUB. IPR000436. Sushi_SCR_CCP. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:2.10.70.10. Complement_control_module. 5 hits. G3DSA:2.60.120.290. CUB. 3 hits. | ||||||||||||
| Pfam | PF00431. CUB. 3 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 | |||||||||||||
| NextBio | 46072. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | SE6L1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BYH1 Secondary accession number(s): A0AUW7 Q9Y3J6 | ||||||||
| 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 22 Human chromosome 22: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with