1. Gene
  2. MAP1B - microtubule associated protein 1B Gene

MAP1B - microtubule associated protein 1B Gene

中文名称:微管相关蛋白 1B

种属: Homo sapiens

同用名: MAP5; PVNH9; DFNA83; FUTSCH; PPP1R102

基因 ID: 4131 | 基因类型: protein coding

关于 MAP1B

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:72,107,475-72,209,565 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 49.2), adrenal (RPKM 7.7) and 10 other tissues.

功能概要

该基因编码属于微管相关蛋白家族的蛋白质。该家族的蛋白质被认为参与微管组装,这是神经发生的重要步骤。该基因的产物是一种前体多肽,可能经过蛋白水解加工产生最终的 MAP1B 重链和 LC1 轻链。小鼠微管相关蛋白 1B 基因的基因敲除研究表明在神经系统的发育和功能中起重要作用。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 LIGHT chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]

MAP1B 基因产物(2)

mRNA Protein Name
NM_001324255.2 NP_001311184.1 microtubule-associated protein 1B isoform 2
NM_005909.5 NP_005900.2 microtubule-associated protein 1B 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
12147674 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in neuron projection development IMP
IMP: 通过突变表型推断
33268592 GOA
acts upstream of or within odontoblast differentiation IDA
IDA: 通过直接分析推断
19567321 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
19567321 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

MAP1B 蛋白结构

MAP1B_neuraxin

MAP1B_neuraxin: Neuraxin and MAP1B repeat (1895 - 1911)

MAP1B_neuraxin

MAP1B_neuraxin: Neuraxin and MAP1B repeat (1929 - 1945)

MAP1B_neuraxin

MAP1B_neuraxin: Neuraxin and MAP1B repeat (1963 - 1979)

MAP1B_neuraxin

MAP1B_neuraxin: Neuraxin and MAP1B repeat (1997 - 2013)

MAP1B_neuraxin

MAP1B_neuraxin: Neuraxin and MAP1B repeat (2031 - 2047)

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  • 2000
  • 2468 a.a.
蛋白主名 其他名称

microtubule-associated protein 1B

protein phosphatase 1, regulatory subunit 102

关联疾病

疾病名称 别名
Periventricular Nodular Heterotopia 9

PVNH9

Deafness, Autosomal Dominant 83

DFNA83

Deafness, Autosomal Dominant, 83

Pyloric Stenosis
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Hypotonia
Olivopontocerebellar Atrophy

Thomas Syndrome

Olivopontocerebellar Atrophies

Dejerine-Thomas Syndrome

Thomas' Syndrome

Wadia-Swami Syndrome

Opca

Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

Spinocerebellar Ataxia Type 2

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

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

Autonomic Peripheral Neuropathy

Peripheral Autonomic Nervous System Diseases

Differentiating Neuroblastoma
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Spermatogenic Failure, Y-Linked, 2

SPGFY2

Spermatogenic Failure, Nonobstructive, Y-Linked

Y-Linked Spermatogenic Failure 2

Azoospermia, Nonobstructive, Y-Linked

Oligozoospermia, Nonobstructive, Y-Linked

Oligospermia, Nonobstructive, Y-Linked

Spermatogenic Arrest, Y-Linked

Nonobstructive Y-Linked Spermatogenic Failure

Spermatogenic Failure Y-Linked 2

Azoospermia Non-Obstructive Y-Linked

Non-Obstructive Azoospermia And Infertility

Oligospermia Non-Obstructive Y-Linked

Oligozoospermia Non-Obstructive Y-Linked

Spermatogenic Arrest Y-Linked

Spermatogenic Failure Nonobstructive Y-Linked

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 MAP1B VGNC VGNC:68151
Canis familiaris MAP1B VGNC VGNC:42956
Rattus norvegicus MAP1B RGD RGD:3043
Mus musculus MAP1B MGD MGI:1306778
Macaca mulatta MAP1B VGNC VGNC:74490
Bos taurus MAP1B VGNC VGNC:31178
Others MAP1B NCBI