• Gene id: 25992

Gene Summary

• Gene Symbol: SNED1   Gene   UCSC   Ensembl
• Aliases: IRE-BP1, SST3, Snep
• Gene name: sushi, nidogen and EGF like domains 1
• Alternate names: sushi, nidogen and EGF-like domain-containing protein 1, insulin responsive sequence DNA binding protein-1,
• Gene location: 2q37.3 (240997409: 241095567)     Exons: 38     NC_000002.12
• OMIM: 616634

Protein Summary

• Protein general information: Q8TER0  
  • Name: Sushi, nidogen and EGF like domain containing protein 1 (Insulin responsive sequence DNA binding protein 1) (IRE BP1)
  • Length: 1413  
  • Mass: 152204
• Sequence:

  MRHGVAWALLVAAALGLGARGVRGAVALADFYPFGAERGDAVTPKQDDGGSGLRPLSVPFPFFGAEHSGLYVNNN
  GIISFLKEVSQFTPVAFPIAKDRCVVAAFWADVDNRRAGDVYYREATDPAMLRRATEDVRHYFPELLDFNATWVF
  VATWYRVTFFGGSSSSPVNTFQTVLITDGKLSFTIFNYESIVWTTGTHASSGGNATGLGGIAAQAGFNAGDGQRY
  FSIPGSRTADMAEVETTTNVGVPGRWAFRIDDAQVRVGGCGHTTSVCLALRPCLNGGKCIDDCVTGNPSYTCSCL
  SGFTGRRCHLDVNECASQPCQNGGTCTHGINSFRCQCPAGFGGPTCETAQSPCDTKECQHGGQCQVENGSAVCVC
  QAGYTGAACEMDVDDCSPDPCLNGGSCVDLVGNYTCLCAEPFKGLRCETGDHPVPDACLSAPCHNGGTCVDADQG
  YVCECPEGFMGLDCRERVPDDCECRNGGRCLGANTTLCQCPLGFFGLLCEFEITAMPCNMNTQCPDGGYCMEHGG
  SYLCVCHTDHNASHSLPSPCDSDPCFNGGSCDAHDDSYTCECPRGFHGKHCEKARPHLCSSGPCRNGGTCKEAGG
  EYHCSCPYRFTGRHCEIGKPDSCASGPCHNGGTCFHYIGKYKCDCPPGFSGRHCEIAPSPCFRSPCVNGGTCEDR
  DTDFFCHCQAGYMGRRCQAEVDCGPPEEVKHATLRFNGTRLGAVALYACDRGYSLSAPSRIRVCQPHGVWSEPPQ
  CLEIDECRSQPCLHGGSCQDRVAGYLCLCSTGYEGAHCELERDECRAHPCRNGGSCRNLPGAYVCRCPAGFVGVH
  CETEVDACDSSPCQHGGRCESGGGAYLCVCPESFFGYHCETVSDPCFSSPCGGRGYCLASNGSHSCTCKVGYTGE
  DCAKELFPPTALKMERVEESGVSISWNPPNGPAARQMLDGYAVTYVSSDGSYRRTDFVDRTRSSHQLQALAAGRA
  YNISVFSVKRNSNNKNDISRPAVLLARTRPRPVEGFEVTNVTASTISVQWALHRIRHATVSGVRVSIRHPEALRD
  QATDVDRSVDRFTFRALLPGKRYTIQLTTLSGLRGEEHPTESLATAPTHVWTRPLPPANLTAARVTATSAHVVWD
  APTPGSLLEAYVINVTTSQSTKSRYVPNGKLASYTVRDLLPGRRYQLSVIAVQSTELGPQHSEPAHLYIITSPRD
  GADRRWHQGGHHPRVLKNRPPPARLPELRLLNDHSAPETPTQPPRFSELVDGRGRVSARFGGSPSKAATVRSQPT
  ASAQLENMEEAPKRVSLALQLPEHGSKDIGNVPGNCSENPCQNGGTCVPGADAHSCDCGPGFKGRRCELACIKVS
  RPCTRLFSETKAFPVWEGGVCHHVYKRVYRVHQDICFKESCESTSLKKTPNRKQSKSQTLEKS

• Structural information:
  • Protein Domains: (103..25-)
    (/note="NIDO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00570-)
    (268..30-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (311..34-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  IPR018097   IPR003961  IPR036116  IPR013783  IPR003886  IPR035976  IPR000436  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS50853 PS51220 PS50923
  • CDD: cd00033 cd00063
  • STRING: ENSP00000308893
• Other Databases: GeneCards:  SNED1  Malacards:  SNED1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005112	Notch binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq