• Gene id: 889

Gene Summary

• Gene Symbol: KRIT1   Gene   UCSC   Ensembl
• Aliases: CAM, CCM1
• Gene name: KRIT1 ankyrin repeat containing
• Alternate names: krev interaction trapped protein 1, ankyrin repeat-containing protein Krit1, cerebral cavernous malformations 1 protein, krev interaction trapped 1,
• Gene location: 7q21.2 (92246099: 92198968)     Exons: 20     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated prot
• OMIM: 604214

Protein Summary

• Protein general information: O00522  
  • Name: Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein)
  • Length: 736  
  • Mass: 84348
  • Tissue specificity: Low levels in brain. Very weak expression found in heart and muscle. {ECO
• Sequence:

  MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVET
  TKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFA
  TLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKA
  DTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGD
  SELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILL
  NHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEG
  MRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDP
  LAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNR
  ILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETK
  ALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS

• Structural information:
  • Protein Domains: (420..73-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR019749  IPR014352   IPR035963  IPR019748  IPR000299  IPR041791  IPR032022  IPR043058  IPR011993  
  • Prosite: PS50297 PS50088 PS50057
  • CDD: cd14473 cd13197
  • PDB: 3U7D 4DX8 4DXA 4HDO 4HDQ 4JIF 4TKN 5D68
  • PDBsum: 3U7D 4DX8 4DXA 4HDO 4HDQ 4JIF 4TKN 5D68
  • DIP: 40610
  • STRING: ENSP00000378015
• Other Databases: GeneCards:  KRIT1  Malacards:  KRIT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008017	microtubule binding	IDA	molecular function
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:2000352	negative regulation of endothelial cell apoptotic process	IMP	biological process
GO:0045454	cell redox homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000114	regulation of establishment of cell polarity	IMP	biological process
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0010596	negative regulation of endothelial cell migration	IMP	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030695	GTPase regulator activity	TAS	molecular function
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Cerebral cavernous malformation	KEGG:H00534
Cerebral cavernous malformation	KEGG:H00534
Cerebral cavernous malformation	PMID:15079030
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881