Krit1 KRIT1, ankyrin repeat containing [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Krit1provided by MGI
Official Full Name: KRIT1, ankyrin repeat containingprovided by MGI
Primary source: MGI:MGI:1930618
See related: Ensembl:ENSMUSG00000000600 AllianceGenome:MGI:1930618
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ccm1; 2010007K12Rik; A630036P20Rik
Summary: Predicted to enable microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in cell redox homeostasis; negative regulation of angiogenesis; and regulation of establishment of cell polarity. Acts upstream of or within positive regulation of protein binding activity. Located in cytoplasm. Part of protein-containing complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; eye; and reproductive system. Used to study cerebral cavernous malformation. 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, Apr 2022]
Expression: Broad expression in CNS E14 (RPKM 7.1), CNS E11.5 (RPKM 6.7) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A1; 5 2.26 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (3853156..3894515)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (3803156..3844515)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model.
Title: Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model.
KRIT1-mediated regulation of neutrophil adhesion and motility.
Title: KRIT1-mediated regulation of neutrophil adhesion and motility.
Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress.
Title: Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress.
KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses.
Title: KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses.
VEGF signalling enhances lesion burden in KRIT1 deficient mice.
Title: VEGF signalling enhances lesion burden in KRIT1 deficient mice.
KRIT1 loss of function mutation causes aortic endothelial dysfunction.
Title: KRIT1 Deficiency Promotes Aortic Endothelial Dysfunction.
this study shows that KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress
Title: KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease.
our data indicate that ROS signaling is critical for the loss of barrier function following genetic deletion of KRIT1.
Title: Up-regulation of NADPH oxidase-mediated redox signaling contributes to the loss of barrier function in KRIT1 deficient endothelium.
Data show that the reduced expression of thrombospondin1 (TSP1) that follows Krit1 inactivation contributes to cavernous malformation (CCM) lesion pathogenesis.
Title: Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations.
Lesions develop in a stereotypic location and pattern, preceded by endothelial hypersprouting as confirmed in a zebrafish model of disease. The vascular defects seen with loss of Ccm1 suggest a defect in endothelial flow response.
Title: Lack of CCM1 induces hypersprouting and impairs response to flow.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Mit406.2 (e-PCR), detects polymorphism
- UniSTS:130562

13.MMHAP29FRE7.seq (e-PCR)
- UniSTS:123166

Ccm1 (e-PCR), detects polymorphism
- UniSTS:224092

NoName (e-PCR)
- UniSTS:235124

BB235701 (e-PCR)
- UniSTS:207752

BB155247 (e-PCR)
- UniSTS:207755

AI643869 (e-PCR)
- UniSTS:179126

AI450393 (e-PCR)
- UniSTS:179127

34.MMHAP5FLD4.seq (e-PCR)
- UniSTS:124098

06.MHAa81T_M13Rev.seq (e-PCR)
- UniSTS:122843

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase regulator activity	TAS Traceable Author Statement more info	PubMed
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell redox homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell redox homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell redox homeostasis	ISO Inferred from Sequence Orthology more info
involved_in endothelium development	NAS Non-traceable Author Statement more info	PubMed
involved_in integrin activation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of angiogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of establishment of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of cell polarity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: krev interaction trapped protein 1

Names: 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_001170552.1 → NP_001164023.1 krev interaction trapped protein 1 isoform 2

See identical proteins and their annotated locations for NP_001164023.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Isoform 2 is also known as Krit1B.

Source sequence(s)

AK041574, AK087107, AY328895, BB853405, BB855141, BY150935

Consensus CDS

CCDS51409.1

UniProtKB/TrEMBL

Q5U463

Related

ENSMUSP00000132375.2, ENSMUST00000171023.8

Conserved Domains (5) summary

smart00295
Location:421 → 640

B41; Band 4.1 homologues

sd00045
Location:291 → 318

ANK; ANK repeat [structural motif]

pfam12796
Location:292 → 386

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 198

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

cl17171
Location:636 → 696

PH-like; Pleckstrin homology-like domain
NM_030675.3 → NP_109600.2 krev interaction trapped protein 1 isoform 1

See identical proteins and their annotated locations for NP_109600.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Isoform 1 is also known as Krit1A.

Source sequence(s)

AK041574, AK087107, BB619038, BB855141, BC141042

Consensus CDS

CCDS39002.1

UniProtKB/Swiss-Prot

Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0

UniProtKB/TrEMBL

B2RUA8, Q5U463

Related

ENSMUSP00000078985.5, ENSMUST00000080085.9

Conserved Domains (5) summary

smart00295
Location:421 → 640

B41; Band 4.1 homologues

cd13197
Location:636 → 735

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

sd00045
Location:291 → 318

ANK; ANK repeat [structural motif]

pfam12796
Location:292 → 386

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 198

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

RNA

NR_033173.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK041574, AK087107, BB591998, BC054819

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

3853156..3894515

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030254912.1 → XP_030110772.1 krev interaction trapped protein 1 isoform X2

UniProtKB/TrEMBL

Q5U463

Conserved Domains (5) summary

smart00295
Location:421 → 640

B41; Band 4.1 homologues

sd00045
Location:291 → 318

ANK; ANK repeat [structural motif]

pfam12796
Location:292 → 386

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 198

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

cl17171
Location:636 → 696

PH-like; Pleckstrin homology-like domain
XM_006503617.4 → XP_006503680.1 krev interaction trapped protein 1 isoform X1

See identical proteins and their annotated locations for XP_006503680.1

UniProtKB/Swiss-Prot

Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0

UniProtKB/TrEMBL

B2RUA8, Q5U463

Related

ENSMUSP00000143559.2, ENSMUST00000200386.5

Conserved Domains (5) summary

smart00295
Location:421 → 640

B41; Band 4.1 homologues

cd13197
Location:636 → 735

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

sd00045
Location:291 → 318

ANK; ANK repeat [structural motif]

pfam12796
Location:292 → 386

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 198

NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
XM_006503618.5 → XP_006503681.1 krev interaction trapped protein 1 isoform X1

See identical proteins and their annotated locations for XP_006503681.1

UniProtKB/Swiss-Prot

Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0

UniProtKB/TrEMBL

B2RUA8, Q5U463

Conserved Domains (5) summary

smart00295
Location:421 → 640

B41; Band 4.1 homologues

cd13197
Location:636 → 735

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

sd00045
Location:291 → 318

ANK; ANK repeat [structural motif]

pfam12796
Location:292 → 386

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 198

NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
XM_030254911.2 → XP_030110771.1 krev interaction trapped protein 1 isoform X1

UniProtKB/Swiss-Prot

Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0

UniProtKB/TrEMBL

B2RUA8, Q5U463

Conserved Domains (5) summary

smart00295
Location:421 → 640

B41; Band 4.1 homologues

cd13197
Location:636 → 735

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

sd00045
Location:291 → 318

ANK; ANK repeat [structural motif]

pfam12796
Location:292 → 386

Ank_2; Ankyrin repeats (3 copies)

pfam16705
Location:30 → 198

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