• Gene id: 81621

Gene Summary

• Gene Symbol: KAZALD1   Gene   UCSC   Ensembl
• Aliases: BONO1, FKSG28, FKSG40, IGFBP-rP10
• Gene name: Kazal type serine peptidase inhibitor domain 1
• Alternate names: kazal-type serine protease inhibitor domain-containing protein 1, IGFBP-related protein 10, bone- and odontoblast-expressed gene 1, novel kazal-type serine protease inhibitor domain and immunoglobulin domain containing protein,
• Gene location: 10q24.31 (101061084: 101068130)     Exons: 7     NC_000010.11
• Gene summary(Entrez): This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain
• OMIM: 300921

Protein Summary

• Protein general information: Q96I82  
  • Name: Kazal type serine protease inhibitor domain containing protein 1
  • Length: 304  
  • Mass: 32945
• Sequence:

  MLPPPRPAAALALPVLLLLLVVLTPPPTGARPSPGPDYLRRGWMRLLAEGEGCAPCRPEECAAPRGCLAGRVRDA
  CGCCWECANLEGQLCDLDPSAHFYGHCGEQLECRLDTGGDLSRGEVPEPLCACRSQSPLCGSDGHTYSQICRLQE
  AARARPDANLTVAHPGPCESGPQIVSHPYDTWNVTGQDVIFGCEVFAYPMASIEWRKDGLDIQLPGDDPHISVQF
  RGGPQRFEVTGWLQIQAVRPSDEGTYRCLGRNALGQVEAPASLTVLTPDQLNSTGIPQLRSLNLVPEEEAESEEN
  DDYY

• Structural information:
  • Protein Domains: (49..12-)
    (/note="IGFBP-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00653-)
    (120..17-)
    (/note="Kazal-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (172..26-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR009030  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  IPR000867  IPR011390  IPR002350  IPR036058  
  • Prosite: PS50835 PS51323 PS51465
  • STRING: ENSP00000359219
• Other Databases: GeneCards:  KAZALD1  Malacards:  KAZALD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001558	regulation of cell growth	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005520	insulin-like growth factor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0005614	interstitial matrix	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0001558	regulation of cell growth	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005520	insulin-like growth factor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0005614	interstitial matrix	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process

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