• Gene id: 140862

Gene Summary

• Gene Symbol: ISM1   Gene   UCSC   Ensembl
• Aliases: C20orf82, ISM, Isthmin, bA149I18.1, dJ1077I2.1
• Gene name: isthmin 1
• Alternate names: isthmin-1, isthmin 1 homolog, isthmin 1, angiogenesis inhibitor,
• Gene location: 20p12.1 (13221273: 13326733)     Exons: 8     NC_000020.11
• OMIM: 615936

Protein Summary

• Protein general information: B1AKI9  
  • Name: Isthmin 1
  • Length: 464  
  • Mass: 52107
• Sequence:

  MVRLAAELLLLLGLLLLTLHITVLRGSGAADGPDAAAGNASQAQLQNNLNVGSDTTSETSFSLSKEAPREHLDHQ
  AAHQPFPRPRFRQETGHPSLQRDFPRSFLLDLPNFPDLSKADINGQNPNIQVTIEVVDGPDSEADKDQHPENKPS
  WSVPSPDWRAWWQRSLSLARANSGDQDYKYDSTSDDSNFLNPPRGWDHTAPGHRTFETKDQPEYDSTDGEGDWSL
  WSVCSVTCGNGNQKRTRSCGYACTATESRTCDRPNCPGIEDTFRTAATEVSLLAGSEEFNATKLFEVDTDSCERW
  MSCKSEFLKKYMHKVMNDLPSCPCSYPTEVAYSTADIFDRIKRKDFRWKDASGPKEKLEIYKPTARYCIRSMLSL
  ESTTLAAQHCCYGDNMQLITRGKGAGTPNLISTEFSAELHYKVDVLPWIICKGDWSRYNEARPPNNGQKCTESPS
  DEDYIKQFQEAREY

• Structural information:
  • Protein Domains: (218..26-)
    (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (289..45-)
    (/note="AMOP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00347"-)
  • Interpro: IPR005533  IPR042413  IPR000884  IPR036383  
  • Prosite: PS50856 PS50092
  • STRING: ENSP00000262487
• Other Databases: GeneCards:  ISM1  Malacards:  ISM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016525	negative regulation of angiogenesis	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray