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

KRIT1 - KRIT1 ankyrin repeat containing Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 KRIT1 锚蛋白重复

种属: Homo sapiens

同用名: CAM; CCM1

基因 ID: 889 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含四个锚蛋白重复、带 4.1/ezrin/radixin/moesin (FERM) 结构域和多个 NPXY 序列。编码的蛋白质位于细胞核和细胞质中。它与整合素胞质结构域相关蛋白 1 α (ICAP1alpha) 结合，并在 beta1 整合素介导的细胞增殖中起关键作用。它与连接蛋白和 Ras 相关蛋白 1A (Rap1A) 相关联，后者需要编码的蛋白质来维持内皮连接的完整性。它也是一种微管相关蛋白，可能在微管靶向中发挥作用。该基因的突变会导致脑海绵状血管畸形。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供，2009 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables microtubule binding IDA
IDA: 通过直接分析推断
17916086 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
17916086 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16037064 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell redox homeostasis IMP
IMP: 通过突变表型推断
20668652 GOA
involved in integrin activation IDA
IDA: 通过直接分析推断
23317506 GOA
involved in negative regulation of angiogenesis IMP
IMP: 通过突变表型推断
20616044 GOA
involved in negative regulation of endothelial cell apoptotic process IMP
IMP: 通过突变表型推断
20616044 GOA
involved in negative regulation of endothelial cell migration IMP
IMP: 通过突变表型推断
20616044 GOA
involved in negative regulation of endothelial cell proliferation IMP
IMP: 通过突变表型推断
20616044 GOA
involved in regulation of establishment of cell polarity IMP
IMP: 通过突变表型推断
20332120 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IDA
IDA: 通过直接分析推断
20332120 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17916086 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

KRIT1 蛋白结构

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.
蛋白主名 其他名称

krev interaction trapped protein 1

ankyrin repeat-containing protein Krit1

KRIT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KRIT1 O00522 HEG1 Homo sapiens Q9ULI3
Anti Tag CoIP
33961781
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
BLI
25525273
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
Y2H Array
25910212
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
Pull Down
25525273
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
Anti Tag CoIP
17657516
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
Anti Tag CoIP
25525273
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
Y2H Bait-Prey Pool
25910212
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
GMS
25525273
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
Validated Y2H
25910212
种属内
KRIT1 O00522 CCM2 Homo sapiens Q9BSQ5
X-Ray Diffraction
25525273
种属内
KRIT1 O00522 ITGB1BP1 Homo sapiens O14713
Y2H Array
25910212
种属内
KRIT1 O00522 ITGB1BP1 Homo sapiens O14713
Anti Tag CoIP
33961781
种属内
KRIT1 O00522 ITGB1BP1 Homo sapiens O14713
Validated Y2H
25910212
种属内
KRIT1 O00522 ITGB1BP1 Homo sapiens O14713
Y2H Bait-Prey Pool
25910212
种属内
KRIT1 O00522 UBE2K Homo sapiens P61086
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07431 KRIT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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