2. Gene
  3. KRIT1 - KRIT1 ankyrin repeat containing Gene

KRIT1 - KRIT1 ankyrin repeat containing Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CAM; CCM1

Gene ID: 889 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Ank_5: Ankyrin repeats (many copies) (340 - 395)

FERM_M

FERM_M: FERM central domain (520 - 640)

  • 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 Reference
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 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83402 KRIT1 Antibody (YA3147) WB Human, Mouse, Rat

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07431 KRIT1 Human Pre-designed siRNA Set A Pre-designed Sets / 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