krit1 KRIT1 ankyrin repeat containing [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: krit1provided by ZNC
Official Full Name: KRIT1 ankyrin repeat containingprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-555
See related: Ensembl:ENSDARG00000098916 AllianceGenome:ZFIN:ZDB-GENE-030131-555
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: san; santa; fb36f07; zgc:63585; wu:fb36f07
Summary: Acts upstream of or within several processes, including circulatory system development; endothelial cell morphogenesis; and negative regulation of endothelial cell differentiation. Predicted to be located in several cellular components, including anchoring junction; cytoplasm; and cytoskeleton. Predicted to be active in plasma membrane. Is expressed in head; notochord; post-vent region; vasculature; 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 19

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	19	NC_007130.7 (45991058..46017829, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	19	NC_007130.6 (46400438..46427209, complement)

Chromosome 19 - NC_007130.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In turn, Heg1 stabilizes levels of Krit1 protein, and both Heg1 and Krit1 dampen expression levels of klf2a, a major mechanosensitive gene. The correct balance of blood-flow-dependent induction and Krit1 protein-mediated repression of klf2a and notch1b ultimately shapes cardiac valve leaflet morphology.
Title: Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis.
CCM3 signals through sterile 20-like kinases to regulate both endothelial and epithelial cell junctions in development and disease.
Title: CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations.
endothelial cellular morphogenesis is regulated by CCM1 proteins during development and pathogenesis. [CCM1]
Title: ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish.
the direct interaction between Rap1 and KRIT1 is required for KRIT1 function in cardiovascular development.
Title: A mechanism of Rap1-induced stabilization of endothelial cell--cell junctions.
Ccm1 has been identified as a key angiogenic modulator in microvascular tubulogenesis.
Title: Ccm1 regulates microvascular morphogenesis during angiogenesis.
Zebrafish embryos with the recessive lethal mutations santa (san) and valentine (vtn) do not thicken, but do add the proper number of cells to the myocardium.
Title: santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior axis specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within atrioventricular valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel lumenization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell redox homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in developmental process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endocardial cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endothelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vacuole organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: krev interaction trapped protein 1

Names: ccm1; cerebral cavernous malformations 1 protein homolog; krev interaction trapped 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317001.1 → NP_001303930.1 krev interaction trapped protein 1

Status: VALIDATED

Source sequence(s)

CR855331, EB920540

UniProtKB/Swiss-Prot

B8JIZ5, F1REV3, Q0Z803

UniProtKB/TrEMBL

A0A0R4IW01, A0A8M1P212

Related

ENSDARP00000138856.1, ENSDART00000159206.2

Conserved Domains (7) summary

smart00295
Location:419 → 638

B41; Band 4.1 homologues

cd00204
Location:289 → 409

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd13197
Location:634 → 733

FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1

pfam00373
Location:519 → 638

FERM_M; FERM central domain

pfam12796
Location:290 → 384

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 197

NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

sd00045
Location:289 → 316

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007130.7 Reference GRCz11 Primary Assembly

Range

45991058..46017829 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_199572.1: Suppressed sequence

Description

NM_199572.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.