Gene

krit1

ID
ZDB-GENE-030131-555
Name
KRIT1 ankyrin repeat containing
Symbol
krit1 Nomenclature History
Previous Names
  • ccm1 (2)
  • fb36f07
  • san (1)
  • santa (1)
  • wu:fb36f07
  • zgc:63585
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Involved in several processes, including circulatory system development; endothelial cell morphogenesis; and negative regulation of endothelial cell differentiation. Predicted to localize to plasma membrane. Is expressed in head; notochord; post-vent region; posterior cardinal vein; and ventricular zone. Used to study cerebral cavernous malformation 1. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing).
Genome Resources
Note
None
Expression
All Expression Data
5 figures from 5 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
40 figures from 17 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With krit1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cerebral cavernous malformation 1 Alliance Cavernous malformations of CNS and retina 116860
cerebral cavernous malformation 1 Alliance Cerebral cavernous malformations-1 116860
cerebral cavernous malformation 1 Alliance Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Associated With krit1 Via Experimental Models
Human Disease Fish Conditions Citations
cerebral cavernous malformation 1 krit1ty219c/ty219c control Rödel et al., 2019
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000299 FERM domain
Domain IPR019748 FERM central domain
Domain IPR019749 Band 4.1 domain
Domain IPR020683 Ankyrin repeat-containing domain
Domain IPR032022 KRIT, N-terminal NPxY motif-rich region
Domain IPR041791 Krev interaction trapped protein 1, FERM domain C-lobe
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR014352 FERM/acyl-CoA-binding protein superfamily
Homologous_superfamily IPR035963 FERM superfamily, second domain
Homologous_superfamily IPR036770 Ankyrin repeat-containing domain superfamily
Homologous_superfamily IPR043058 KRIT, N-terminal NPxY motif-rich domain superfamily
Repeat IPR002110 Ankyrin repeat
Domain Details Per Protein
Protein Length Ankyrin repeat Ankyrin repeat-containing domain Ankyrin repeat-containing domain superfamily Band 4.1 domain FERM/acyl-CoA-binding protein superfamily FERM central domain FERM domain FERM superfamily, second domain Krev interaction trapped protein 1, FERM domain C-lobe KRIT, N-terminal NPxY motif-rich domain superfamily KRIT, N-terminal NPxY motif-rich region PH-like domain superfamily
UniProtKB:F1REV3 740
UniProtKB:A0A0R4IW01 741
UniProtKB:Q7SY27 442
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations