• Gene id: 124925

Gene Summary

• Gene Symbol: SEZ6   Gene   UCSC   Ensembl
• Aliases: BSRPC
• Gene name: seizure related 6 homolog
• Alternate names: seizure protein 6 homolog,
• Gene location: 17q11.2 (29006439: 28954904)     Exons: 18     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene ha
• OMIM: 610791

Protein Summary

• Protein general information: Q53EL9  
  • Name: Seizure protein 6 homolog (SEZ 6) (hSEZ 6)
  • Length: 994  
  • Mass: 107425
• Sequence:

  MRPVALLLLPSLLALLAHGLSLEAPTVGKGQAPGIEETDGELTAAPTPEQPERGVHFVTTAPTLKLLNHHPLLEE
  FLQEGLEKGDEELRPALPFQPDPPAPFTPSPLPRLANQDSRPVFTSPTPAMAAVPTQPQSKEGPWSPESESPMLR
  ITAPLPPGPSMAVPTLGPGEIASTTPPSRAWTPTQEGPGDMGRPWVAEVVSQGAGIGIQGTITSSTASGDDEETT
  TTTTIITTTITTVQTPGPCSWNFSGPEGSLDSPTDLSSPTDVGLDCFFYISVYPGYGVEIKVQNISLREGETVTV
  EGLGGPDPLPLANQSFLLRGQVIRSPTHQAALRFQSLPPPAGPGTFHFHYQAYLLSCHFPRRPAYGDVTVTSLHP
  GGSARFHCATGYQLKGARHLTCLNATQPFWDSKEPVCIAACGGVIRNATTGRIVSPGFPGNYSNNLTCHWLLEAP
  EGQRLHLHFEKVSLAEDDDRLIIRNGDNVEAPPVYDSYEVEYLPIEGLLSSGKHFFVELSTDSSGAAAGMALRYE
  AFQQGHCYEPFVKYGNFSSSTPTYPVGTTVEFSCDPGYTLEQGSIIIECVDPHDPQWNETEPACRAVCSGEITDS
  AGVVLSPNWPEPYGRGQDCIWGVHVEEDKRIMLDIRVLRIGPGDVLTFYDGDDLTARVLGQYSGPRSHFKLFTSM
  ADVTIQFQSDPGTSVLGYQQGFVIHFFEVPRNDTCPELPEIPNGWKSPSQPELVHGTVVTYQCYPGYQVVGSSVL
  MCQWDLTWSEDLPSCQRVTSCHDPGDVEHSRRLISSPKFPVGATVQYICDQGFVLMGSSILTCHDRQAGSPKWSD
  RAPKCLLEQLKPCHGLSAPENGARSPEKQLHPAGATIHFSCAPGYVLKGQASIKCVPGHPSHWSDPPPICRAASL
  DGFYNSRSLDVAKAPAASSTLDAAHIAAAIFLPLVAMVLLVGGVYFYFSRLQGKSSLQLPRPRPRPYNRITIESA
  FDNPTYETGSLSFAGDERI

• Structural information:
  • Protein Domains: (355..41-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (416..52-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (530..59-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302";-)
  • Interpro: IPR000859  IPR035914  IPR035976  IPR000436  
  • Prosite: PS01180 PS50923
  • CDD: cd00033 cd00041
  • STRING: ENSP00000312942
• Other Databases: GeneCards:  SEZ6  Malacards:  SEZ6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090036	regulation of protein kinase C signaling	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060074	synapse maturation	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0097440	apical dendrite	IEA	cellular component
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray