KRIT1 - KRIT1 ankyrin repeat containing Gene

Also Known as CAM; CCM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 889

About KRIT1

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:92,198,969-92,246,100 (from NCBI)

This gene has 70 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.9), thyroid (RPKM 10.0) and 25 other tissues.

Summary

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 protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

KRIT1 Products (34)

mRNA	Protein	Name
NM_001013406.2	NP_001013424.1	krev interaction trapped protein 1 isoform 2
NM_001350669.1	NP_001337598.1	krev interaction trapped protein 1 isoform 2
NM_001350670.1	NP_001337599.1	krev interaction trapped protein 1 isoform 2
NM_001350671.1	NP_001337600.1	krev interaction trapped protein 1 isoform 3
NM_001350672.1	NP_001337601.1	krev interaction trapped protein 1 isoform 1
NM_001350673.1	NP_001337602.1	krev interaction trapped protein 1 isoform 1
NM_001350674.1	NP_001337603.1	krev interaction trapped protein 1 isoform 1
NM_001350675.1	NP_001337604.1	krev interaction trapped protein 1 isoform 1
NM_001350676.1	NP_001337605.1	krev interaction trapped protein 1 isoform 1
NM_001350677.1	NP_001337606.1	krev interaction trapped protein 1 isoform 1
NM_001350678.1	NP_001337607.1	krev interaction trapped protein 1 isoform 1
NM_001350679.1	NP_001337608.1	krev interaction trapped protein 1 isoform 1
NM_001350680.1	NP_001337609.1	krev interaction trapped protein 1 isoform 1
NM_001350681.1	NP_001337610.1	krev interaction trapped protein 1 isoform 1
NM_001350682.1	NP_001337611.1	krev interaction trapped protein 1 isoform 1
NM_001350683.1	NP_001337612.1	krev interaction trapped protein 1 isoform 1
NM_001350684.1	NP_001337613.1	krev interaction trapped protein 1 isoform 1
NM_001350685.1	NP_001337614.1	krev interaction trapped protein 1 isoform 1
NM_001350686.1	NP_001337615.1	krev interaction trapped protein 1 isoform 1
NM_001350687.1	NP_001337616.1	krev interaction trapped protein 1 isoform 1
NM_001350688.1	NP_001337617.1	krev interaction trapped protein 1 isoform 1
NM_001350689.1	NP_001337618.1	krev interaction trapped protein 1 isoform 1
NM_001350690.1	NP_001337619.1	krev interaction trapped protein 1 isoform 1
NM_001350691.1	NP_001337620.1	krev interaction trapped protein 1 isoform 1
NM_001350692.1	NP_001337621.1	krev interaction trapped protein 1 isoform 1
NM_001350693.1	NP_001337622.1	krev interaction trapped protein 1 isoform 1
NM_001350694.1	NP_001337623.1	krev interaction trapped protein 1 isoform 1
NM_001350695.1	NP_001337624.1	krev interaction trapped protein 1 isoform 1
NM_001350696.1	NP_001337625.1	krev interaction trapped protein 1 isoform 1
NM_001350697.1	NP_001337626.1	krev interaction trapped protein 1 isoform 1
NM_004912.4	NP_004903.2	krev interaction trapped protein 1 isoform 1
NM_194454.3	NP_919436.1	krev interaction trapped protein 1 isoform 1
NM_194455.1	NP_919437.1	krev interaction trapped protein 1 isoform 1
NM_194456.1	NP_919438.1	krev interaction trapped protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables microtubule binding	IDA IDA: Inferred from direct assay	17916086	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	17916086	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16037064	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cell redox homeostasis	IMP IMP: Inferred from mutant phenotype	20668652	GOA
involved in integrin activation	IDA IDA: Inferred from direct assay	23317506	GOA
involved in negative regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	20616044	GOA
involved in negative regulation of endothelial cell apoptotic process	IMP IMP: Inferred from mutant phenotype	20616044	GOA
involved in negative regulation of endothelial cell migration	IMP IMP: Inferred from mutant phenotype	20616044	GOA
involved in negative regulation of endothelial cell proliferation	IMP IMP: Inferred from mutant phenotype	20616044	GOA
involved in regulation of establishment of cell polarity	IMP IMP: Inferred from mutant phenotype	20332120	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cell-cell junction	IDA IDA: Inferred from direct assay	20332120	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17916086	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KRIT1 Protein Structure

Ank_5

FERM_M

0
200
400
600
736 a.a.

Protein Preferred Names	Protein Names
krev interaction trapped protein 1	ankyrin repeat-containing protein Krit1

KRIT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	KRIT1	O00522	HEG1	Homo sapiens	Q9ULI3	Anti Tag CoIP	33961781
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	BLI	25525273
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	Y2H Array	25910212
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	Pull Down	25525273
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	Anti Tag CoIP	17657516
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	Anti Tag CoIP	25525273
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	Y2H Bait-Prey Pool	25910212
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	GMS	25525273
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	Validated Y2H	25910212
Intra	KRIT1	O00522	CCM2	Homo sapiens	Q9BSQ5	X-Ray Diffraction	25525273
Intra	KRIT1	O00522	ITGB1BP1	Homo sapiens	O14713	Y2H Array	25910212
Intra	KRIT1	O00522	ITGB1BP1	Homo sapiens	O14713	Anti Tag CoIP	33961781
Intra	KRIT1	O00522	ITGB1BP1	Homo sapiens	O14713	Validated Y2H	25910212
Intra	KRIT1	O00522	ITGB1BP1	Homo sapiens	O14713	Y2H Bait-Prey Pool	25910212
Intra	KRIT1	O00522	UBE2K	Homo sapiens	P61086	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

KRIT1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83402	KRIT1 Antibody (YA3147)	WB, ICC/IF	Human, Mouse
HY-P83402A	KRIT1 Antibody (YA3147)(PBS only)	WB, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
Cerebral Cavernous Malformations	Cerebral Cavernous Malformation Cavernous Malformations Of Cns And Retina Cerebral Cavernous Malformation 1 Cavernous Angiomatous Malformations Cerebral Capillary Malformations CCM Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations Familial Cavernous Angioma Cavernous Angioma Familial Cerebral Cavernous Malformation Cerebral Cavernous Malformations 1 Cavernous Angioma, Familial Cam Cerebral Cavernous Malformations-1 Cavernoma Central Nervous System Cavernous Hemangioma Cerebral Cavernous Hemangioma Familial Cavernous Hemangioma Familial Cavernous Malformation Familial Cerebral Cavernous Angioma Intracerebral Cavernous Hemangioma CCM1 Cavernous Hemangioma Of The Brain Cerebral Cavernoma Cerebral Cavernous Malformations, Type 1 Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous Angioma, Cavernous
Cavernous Hemangioma	Hemangioma, Cavernous Cavernoma Cavernous Haemangioma
Cerebral Cavernous Malformation, Familial	Familial Cerebral Cavernous Malformation Familial Cavernous Hemangioma Familial Cerebral Cavernous Angioma Familial Brain Cavernous Angioma Familial Cerebral Cavernoma Hereditary Brain Cavernous Angioma Hereditary Cerebral Cavernoma Hereditary Cerebral Cavernous Malformation
Intracranial Cavernous Angioma	Intracranial Cavernoma Intracranial Cavernous Hemangioma
Intracranial Structure Hemangioma	Angioma Of Intracranial Structure Hemangioma Of Intracranial Structure Hemangioma Of Intracranial Structures
Brain Angioma	Brain Hemangioma
Cerebral Angioma	Hemangioma Of Cerebrum Cerebral Hemangioma
Cerebrocostomandibular Syndrome	Cerebro-Costo-Mandibular Syndrome CCMS Rib Gap Defects With Micrognathia Ccm Syndrome
Glomuvenous Malformations	Glomuvenous Malformation Venous Malformations With Glomus Cells Vmglom Glomus Tumors, Multiple Glomangiomatosis GVM Glomangiomas, Multiple Hereditary Multiple Glomangiomas Multiple Glomus Tumors GVMS Malformations, Glomuvenous
Hemangioma	Hemangiomas
Hemangioma Of Liver	Hepatic Hemangioma Angioma Of Liver Hepatic Angioma
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay Syndrome KTS Ktw Syndrome Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Haemangiectatic Hypertrophy Weber-Klippel-Trenaunay Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Weber Klippel Trenaunay
Venous Malformations, Multiple Cutaneous And Mucosal	VMCM Multiple Cutaneous And Mucosal Venous Malformations Mucocutaneous Venous Malformations Vmcm1 Cutaneous And Mucosal Venous Malformation Dominantly Inherited Venous Malformations
Idiopathic Scoliosis	Scoliosis Idiopathic
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Cerebral Cavernous Malformations 3	Cerebral Cavernous Malformation 3 CCM3 Cerebral Cavernous Malformations-3 Cavernous Angiomatous Malformations Cavernous Hemangioma Of The Brain Cerebral Capillary Malformations Cerebral Cavernoma Familial Cavernous Angioma Cerebral Cavernous Malformations, Type 3
Hemorrhagic Disease	Hemorrhagic Disorders Hemorrhagic Diathesis Hemorrhagic Diseases Bleeding Tendency Acquired Coagulation Factor Inhibitor Disorder Acquired Inhibitor Of Coagulation Antithrombinaemia Antithromboplastinogenaemia Circulating Anticoagulant Disorder Haemorrhagic Disorder Due To Antithrombinaemia Haemorrhagic Disorder Due To Excess Administered Heparin Antithromboplastinaemia Haemorrhagic Disorder Due To Hyperheparinemia
Cerebrovascular Disease	Cerebrovascular Disorder Cerebrovascular Accident Cerebrovascular Disorders Cva Stroke
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	MCC2D Mcc2 Deficiency 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Ii Methylcrotonylglycinuria, Type Ii 3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Type Ii Mcgii Methylcrotonylglycinuria Type Ii
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Scoliosis
Cardiovascular Organ Benign Neoplasm

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07431	KRIT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KRIT1	VGNC	VGNC:81629
Canis familiaris	KRIT1	VGNC	VGNC:42514
Felis catus	KRIT1	VGNC	VGNC:80607
Rattus norvegicus	KRIT1	RGD	RGD:1305929
Mus musculus	KRIT1	MGD	MGI:1930618
Bos taurus	KRIT1	VGNC	VGNC:30714
Others	KRIT1	NCBI