SPTBN1 - spectrin beta, non-erythrocytic 1 Gene

中文名称：spectrin beta，非红细胞 1

种属: Homo sapiens

同用名: ELF; SPTB2; DDISBA; HEL102; betaSpII

基因 ID: 6711 | 基因类型: protein coding

关于 SPTBN1

Cytogenetic location: 2p16.2 Genomic coordinates (GRCh38): 2:54,456,327-54,671,446 (from NCBI)

This gene has 7 transcripts (splice variants), 308 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 102.5), lung (RPKM 72.2) and 24 other tissues.

功能概要

Spectrin 是一种肌动蛋白交联和分子支架蛋白，可将质膜连接到肌动蛋白细胞骨架，并在确定细胞形状、跨膜蛋白排列和细胞器组织中发挥作用。它由两个反平行的α-和β-亚基二聚体组成。该基因是 β-血影蛋白基因家族的一员。编码的蛋白质包含一个 N 末端肌动蛋白结合域，以及 17 个参与二聚体形成的血影蛋白重复序列。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin Cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SPTBN1 基因产物(2)

mRNA	Protein	Name
NM_003128.3	NP_003119.2	spectrin beta chain, non-erythrocytic 1 isoform 1
NM_178313.3	NP_842565.2	spectrin beta chain, non-erythrocytic 1 isoform 2

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 GTPase binding	IPI IPI: 通过物理相互作用推断	24337748	GOA
enables ankyrin binding	IPI IPI: 通过物理相互作用推断	15262991	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9537418	GOA
enables structural constituent of cytoskeleton	IMP IMP: 通过突变表型推断	17620337	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi to plasma membrane protein transport	IMP IMP: 通过突变表型推断	17620337	GOA
involved in actin cytoskeleton organization	IMP IMP: 通过突变表型推断	34211179	GOA
involved in central nervous system development	IMP IMP: 通过突变表型推断	34211179	GOA
involved in central nervous system formation	IMP IMP: 通过突变表型推断	34211179	GOA
involved in membrane assembly	IMP IMP: 通过突变表型推断	17620337	GOA
involved in mitotic cytokinesis	IMP IMP: 通过突变表型推断	17620337	GOA
involved in plasma membrane organization	IMP IMP: 通过突变表型推断	17620337	GOA
involved in positive regulation of interleukin-2 production	IMP IMP: 通过突变表型推断	24337748	GOA
involved in positive regulation of protein localization to plasma membrane	IMP IMP: 通过突变表型推断	24337748	GOA
involved in protein localization to plasma membrane	IMP IMP: 通过突变表型推断	17620337	GOA
involved in regulation of protein localization to plasma membrane	IGI IGI: 通过遗传相互作用推断	24337748	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	9537418	GOA
located in cytosol	IDA IDA: 通过直接分析推断	34211179	GOA
located in nucleolus	IDA IDA: 通过直接分析推断	9537418	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	34211179	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

SPTBN1 蛋白结构

Spectrin

PH_9

0
400
800
1200
1600
2000
2364 a.a.

蛋白主名

其他名称

spectrin beta chain, non-erythrocytic 1

beta-G spectrin

SPTBN1 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	SPTBN1	Q01082	NF2	Homo sapiens	P35240-3	Pull Down	9537418
种属内	SPTBN1	Q01082	NF2	Homo sapiens	P35240-3	Y2H	11779178
种属内	SPTBN1	Q01082	SPTAN1	Homo sapiens	Q13813	SPR	12820899
种属内	SPTBN1	Q01082	SPTAN1	Homo sapiens	Q13813	Crosslink	30021884
种属内	SPTBN1	Q01082	CDC5L	Homo sapiens	Q99459	Y2H	17043677
种属内	SPTBN1	Q01082	SPTA1	Homo sapiens	P02549	SPR	12820899
种属内	SPTBN1	Q01082	DISC1	Homo sapiens	Q9NRI5	Y2H	17043677

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

Developmental Delay, Impaired Speech, And Behavioral Abnormalities

DDISBA

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Rare Pervasive Developmental Disorder

Rare Asd	Rare Pdd
Rare Autism Spectrum Disorder

Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy

Glycosylphosphatidylinositol Biosynthesis Defect 13	Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Gpibd13	NEDHCAS
Glycosylphosphatidylinositol Biosynthesis Defect 22	Gpibd22
NEDHSCA	Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly
Mrt53, Formerly	Mental Retardation, Autosomal Recessive 53, Formerly
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigg Deficiency
Pigg-Cdg	Intellectual Developmental Disorder, Autosomal Recessive 53
MRT53

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Acoustic Neuroma

Neurofibromatosis Type 2	Vestibular Schwannoma
Acoustic Neurinoma	Bilateral Acoustic Neurofibromatosis
Nf2	Acoustic Neurilemoma
Cerebellopontine Angle Tumor	Neurofibromatosis Central Type
Neurofibromatosis Type Ii	Vestibular Neurilemmoma
Acoustic Tumor	Neurinoma Of The Acoustic Nerve
Acoustic Neurinoma Bilateral	Acoustic Schwannomas Bilateral
Banf	Central Neurofibromatosis
Familial Acoustic Neuromas	Neurofibromatosis 2
Neurofibromatosis Type 2 Merlin	Schwannoma, Acoustic, Bilateral
Neuroma Acoustic	Neuroma, Acoustic
Familial Acoustic Neuroma	Familial Vestibular Schwannoma
Neurofibromatosis, Central Type	Nf2 - [Neurofibromatosis Type 2]

Occipital Lobe Neoplasm

Neoplasm Of Occipital Lobe	Malignant Neoplasm Of Occipital Lobe
Tumor Of Occipital Lobe

Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5	SCA5
Spinocerebellar Ataxia-5	Ataxia, Spinocerebellar, Type 5

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

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

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13732	SPTBN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SPTBN1	VGNC	VGNC:65659
Rattus norvegicus	SPTBN1	RGD	RGD:727922
Macaca mulatta	SPTBN1	VGNC	VGNC:77871
Canis familiaris	SPTBN1	VGNC	VGNC:46775
Bos taurus	SPTBN1	VGNC	VGNC:35253
Mus musculus	SPTBN1	MGD	MGI:98388

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SPTBN1 - spectrin beta, non-erythrocytic 1 Gene

关于 SPTBN1

功能概要

SPTBN1 基因产物(2)

SPTBN1 蛋白结构

SPTBN1 蛋白互作信息

关联疾病

直系同源

热门区域

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SPTBN1 - spectrin beta, non-erythrocytic 1 Gene

关于 SPTBN1

功能概要

SPTBN1 基因产物(2)

SPTBN1 蛋白结构

SPTBN1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z