2. Gene
  3. SRCAP - Snf2 related CREBBP activator protein Gene

SRCAP - Snf2 related CREBBP activator protein Gene

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

中文名称：Snf2 相关 CREBBP 激活蛋白

种属: Homo sapiens

同用名: EAF1; FLHS; SWR1; DOMO1; DEHMBA

基因 ID: 10847 | 基因类型: protein coding

关于 SRCAP

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,699,171-30,741,409 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues, 30 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 12.4), spleen (RPKM 11.6) and 25 other tissues.

功能概要

该基因编码多蛋白染色质重塑 SRCAP 复合物的核心催化成分。编码的蛋白质是一种 ATP 酶，是将组蛋白变体 H2A.Z 掺入核小体所必需的。它可以在 Notch 介导的、CREB 介导的和类固醇受体介导的转录中充当转录激活剂。该基因的突变会导致 Floating-Harbor 综合征，这是一种罕见的疾病，其特征是身材矮小、语言缺陷和面部特征畸形。[RefSeq 提供，2012 年 2 月]

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

SRCAP 基因产物(1)

mRNA Protein Name
NM_006662.3 NP_006653.2 helicase SRCAP
基因本体论
  • 分子功能
  • 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
10702287 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
10702287 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
10702287 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
14966270 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

SRCAP 蛋白结构

HSA

HSA: HSA (125 - 196)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (621 - 907)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (2078 - 2156)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 3000
  • 3230 a.a.
蛋白主名 其他名称

helicase SRCAP

Snf2-related CBP activator protein

关联疾病

疾病名称 别名
Floating-Harbor Syndrome

FLHS

Fhs

Pelletier-Leisti Syndrome

Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

Leisti-Hollander-Rimoin Syndrome
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities

DEHMBA
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Expressive Language Disorder

Developmental Expressive Language Disorder
Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability

Rts
Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome
Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly
Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae
Marshall-Smith Syndrome

MRSHSS

Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

Mss
Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Scoliosis
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome
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-RS13752 SRCAP Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SRCAP MGD MGI:2444036
Rattus norvegicus SRCAP RGD RGD:1565642
Macaca mulatta SRCAP VGNC VGNC:104756
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