• Gene id: 23544

Gene Summary

• Gene Symbol: SEZ6L   Gene   UCSC   Ensembl
• Gene name: seizure related 6 homolog like
• Alternate names: seizure 6-like protein, seizure related gene 6-like,
• Gene location: 22q12.1 (26169461: 26383596)     Exons: 17     NC_000022.11
• OMIM: 608147

Protein Summary

• Protein general information: Q9BYH1  
  • Name: Seizure 6 like protein
  • Length: 1024  
  • Mass: 111782
  • Tissue specificity: Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines.
• Sequence:

  MPAARPPAAGLRGISLFLALLLGSPAAALERDALPEGDASPLGPYLLPSGAPERGSPGKEHPEERVVTAPPSSSQ
  SAEVLGELVLDGTAPSAHHDIPALSPLLPEEARPKHALPPKKKLPSLKQVNSARKQLRPKATSAATVQRAGSQPA
  SQGLDLLSSSTEKPGPPGDPDPIVASEEASEVPLWLDRKESAVPTTPAPLQISPFTSQPYVAHTLPQRPEPGEPG
  PDMAQEAPQEDTSPMALMDKGENELTGSASEESQETTTSTIITTTVITTEQAPALCSVSFSNPEGYIDSSDYPLL
  PLNNFLECTYNVTVYTGYGVELQVKSVNLSDGELLSIRGVDGPTLTVLANQTLLVEGQVIRSPTNTISVYFRTFQ
  DDGLGTFQLHYQAFMLSCNFPRRPDSGDVTVMDLHSGGVAHFHCHLGYELQGAKMLTCINASKPHWSSQEPICSA
  PCGGAVHNATIGRVLSPSYPENTNGSQFCIWTIEAPEGQKLHLHFERLLLHDKDRMTVHSGQTNKSALLYDSLQT
  ESVPFEGLLSEGNTIRIEFTSDQARAASTFNIRFEAFEKGHCYEPYIQNGNFTTSDPTYNIGTIVEFTCDPGHSL
  EQGPAIIECINVRDPYWNDTEPLCRAMCGGELSAVAGVVLSPNWPEPYVEGEDCIWKIHVGEEKRIFLDIQFLNL
  SNSDILTIYDGDEVMPHILGQYLGNSGPQKLYSSTPDLTIQFHSDPAGLIFGKGQGFIMNYIEVSRNDSCSDLPE
  IQNGWKTTSHTELVRGARITYQCDPGYDIVGSDTLTCQWDLSWSSDPPFCEKIMYCTDPGEVDHSTRLISDPVLL
  VGTTIQYTCNPGFVLEGSSLLTCYSRETGTPIWTSRLPHCVSEESLACDNPGLPENGYQILYKRLYLPGESLTFM
  CYEGFELMGEVTIRCILGQPSHWNGPLPVCKVNQDSFEHALEVAEAAAETSLEGGNMALAIFIPVLIISLLLGGA
  YIYITRCRYYSNLRLPLMYSHPYSQITVETEFDNPIYETGETREYEVSI

• Structural information:
  • Protein Domains: (281..38-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (391..45-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (452..56-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (-)
  • Interpro: IPR000859  IPR035914  IPR035976  IPR000436  
  • Prosite: PS01180 PS50923
  • CDD: cd00033 cd00041
  • PDB: 2YRA
  • PDBsum: 2YRA
  • STRING: ENSP00000248933
• Other Databases: GeneCards:  SEZ6L  Malacards:  SEZ6L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0060074	synapse maturation	IEA	biological process
GO:0090036	regulation of protein kinase C signaling	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881