1. Gene
  2. CASK - calcium/calmodulin dependent serine protein kinase Gene

CASK - calcium/calmodulin dependent serine protein kinase Gene

中文名称:钙/钙调蛋白依赖性丝氨酸蛋白激酶

种属: Homo sapiens

同用名: CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA

基因 ID: 8573 | 基因类型: protein coding

关于 CASK

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,514,934-41,923,554 (from NCBI)

This gene has 30 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 9 phenotypes. Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码钙/钙调蛋白依赖性丝氨酸蛋白激酶。编码的蛋白质是 MAGUK (膜相关鸟苷酸激酶) 蛋白质家族成员。这些蛋白质是支架蛋白,编码的蛋白质位于大脑的突触处。该基因的突变与 FG 综合征 4、智力障碍和小头畸形伴脑桥和小脑发育不全以及一种 X 连锁智力障碍有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2017 年 7 月]

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

CASK 基因产物(5)

mRNA Protein Name
NM_001126054.3 NP_001119526.1 peripheral plasma membrane protein CASK isoform 2
NM_001126055.3 NP_001119527.1 peripheral plasma membrane protein CASK isoform 3
NM_001367721.1 NP_001354650.1 peripheral plasma membrane protein CASK isoform 4
NM_001410745.1 NP_001397674.1 peripheral plasma membrane protein CASK isoform 5
NM_003688.4 NP_003679.2 peripheral plasma membrane protein CASK 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 protein binding IPI
IPI: 通过物理相互作用推断
9660868 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
18423203 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cell-matrix adhesion IMP
IMP: 通过突变表型推断
18664494 GOA
involved in negative regulation of cellular response to growth factor stimulus IMP
IMP: 通过突变表型推断
18664494 GOA
involved in negative regulation of keratinocyte proliferation IDA
IDA: 通过直接分析推断
18664494 GOA
involved in negative regulation of keratinocyte proliferation IMP
IMP: 通过突变表型推断
18664494 GOA
involved in negative regulation of wound healing IMP
IMP: 通过突变表型推断
18664494 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with basement membrane IDA
IDA: 通过直接分析推断
18664494 GOA
located in basement membrane IDA
IDA: 通过直接分析推断
18664494 GOA
located in cell-cell junction IDA
IDA: 通过直接分析推断
18664494 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
18664494 GOA
located in nuclear lamina IDA
IDA: 通过直接分析推断
18664494 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
18664494 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
18664494 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

CASK 蛋白结构

Pkinase

Pkinase: Protein kinase domain (12 - 276)

L27

L27: L27 domain (346 - 399)

L27

L27: L27 domain (405 - 457)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (491 - 567)

SH3_2

SH3_2: Variant SH3 domain (616 - 680)

Guanylate_kin

Guanylate_kin: Guanylate kinase (738 - 911)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 926 a.a.
蛋白主名 其他名称

peripheral plasma membrane protein CASK

calcium/calmodulin-dependent serin protein kinase

CASK 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
CASK O14936 TIAM1 Homo sapiens Q13009 21763699
种属内
CASK O14936 TIAM1 Homo sapiens Q13009 32707033
种属内
CASK O14936 SDC2 Homo sapiens P34741
Y2H
9660868
种属内
CASK O14936 SDC2 Homo sapiens P34741 9660868
种属内
CASK O14936 ID1 Homo sapiens P41134 15694377
种属内
CASK O14936 ID1 Homo sapiens P41134
Y2H
15694377
种属内
CASK O14936 RPH3A Homo sapiens Q9Y2J0 11377421
种属内
CASK O14936 LIN7A Homo sapiens O14910 16688213
种属内
CASK O14936 LIN7A Homo sapiens O14910 25416956
种属内
CASK O14936 LIN7A Homo sapiens O14910 16688213
种属内
CASK O14936 LIN7A Homo sapiens O14910 32707033
种属内
CASK O14936 CFTR Homo sapiens P13569 39009827
种属内
CASK O14936 APBA1 Homo sapiens Q02410 21763699
种属内
CASK O14936 EPS8 Homo sapiens Q12929 16688213
种属内
CASK O14936 EPS8 Homo sapiens Q12929 16688213
种属内
CASK O14936 APC Homo sapiens P25054 32707033
种属内
CASK O14936 APC Homo sapiens P25054 39009827
种属内
CASK O14936 SH2D4A Homo sapiens Q9H788 25416956
种属内
CASK O14936 SH2D4A Homo sapiens Q9H788 25416956
种属内
CASK O14936 SNTB2 Homo sapiens Q13425 32707033
种属内
CASK O14936 SNTB2 Homo sapiens Q13425 25852190
种属内
CASK O14936 CASKIN1 Homo sapiens Q8WXD9 21763699
种属间
CASK O14936 Nrxn1 Rattus norvegicus Q63373 18423203
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CASK 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74349 CASK Protein, Human (sf9) O14936-4 (A2-Y898) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia

MICPCH

Micpch Syndrome

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Intellectual Developmental Disorder, X-Linked, Syndromic, Najm Type

Mrxsna

X-Linked Intellectual Disability, Najm Type

Intellectual Disability And Microcephaly With Pontine And Cerebellar Hypoplasia

X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Mental Retardation, X-Linked, Syndromic, Najm Type

Intellectual Developmental Disorder And Microcephaly With Pontine And Cerebellar Hypoplasia

X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia

Microcephaly With Pontine And Cerebellar Hypoplasia

Mental Retardation, Microcephaly With Pontine, Cerebellar Hypoplasia

Fg Syndrome 4

FGS4

Intellectual Developmental Disorder, With Or Without Nystagmus

X-Linked Intellectual Disability With Or Without Nystagmus

Fg Syndrome, Type 4

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Micpch

X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Cask-Related Disorders

Cask-Related Intellectual Disability

X-Linked Intellectual Deficit, Najm Type

Cask-Related Disorder

Cask Related Intellectual Disability

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Cerebellar Hypoplasia
Hypertonia
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Opitz-Kaveggia Syndrome

Fg Syndrome

Fgs1

Fgs

Keller Syndrome

OKS

Fg Syndrome 1

Fg Syndrome Type 1

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Lobular Neoplasia

Lobular Carcinoma In Situ

Lobular Carcinoma In Situ Of Breast

Lobular Intraepithelial Neoplasia

Non-Infiltrating Lobular Carcinoma

Noninfiltrating Lobular Carcinoma Unspecified Site

Noninfiltrating Lobular Carcinoma Of Breast

Lobular Carcinoma In Situ Unspecified Site

Developmental And Epileptic Encephalopathy 8

DEE8

Epileptic Encephalopathy, Early Infantile, 8

Eiee8

Hyperekplexia And Epilepsy

Developmental And Epileptic Encephalopathy, 8

Early Infantile Epileptic Encephalopathy 8

Hyperekplexia-Epilepsy Syndrome

Hyperekplexia With Epilepsy

Startle Disease With Epilepsy

Encephalopathy, Epileptic, Early Infantile, Type 8

Pathologic Nystagmus

Nystagmus

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Constipation
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Syndromic Intellectual Disability
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

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

直系同源

种属 基因名 来源 基因 ID
Felis catus CASK VGNC VGNC:97372
Rattus norvegicus CASK RGD RGD:62004
Macaca mulatta CASK VGNC VGNC:70541
Mus musculus CASK MGD MGI:1309489
Canis familiaris CASK VGNC VGNC:38729
Bos taurus CASK VGNC VGNC:26776
Others CASK NCBI