ATL1 - atlastin GTPase 1 Gene

中文名称：阿特拉斯蛋白 GTPase 1

种属: Homo sapiens

同用名: FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1

基因 ID: 51062 | 基因类型: protein coding

关于 ATL1

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,533,082-50,633,068 (from NCBI)

This gene has 23 transcripts (splice variants), 214 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 34.8), endometrium (RPKM 5.1) and 15 other tissues.

功能概要

该基因编码的蛋白质是 GTP 酶和高尔基体跨膜蛋白。编码的蛋白质可以形成同源四聚体，并已被证明与 spastin 和丝裂原活化蛋白激酶 kinase kinase kinase 4 相互作用。该蛋白质可能参与轴突维持，事实证明该基因的缺陷是痉挛的原因 3 型截瘫。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATL1 基因产物(3)

mRNA	Protein	Name
NM_001127713.1	NP_001121185.1	atlastin-1 isoform b
NM_015915.5	NP_056999.2	atlastin-1 isoform a
NM_181598.4	NP_853629.2	atlastin-1 isoform b

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 activity	IDA IDA: 通过直接分析推断	14506257	GOA
enables identical protein binding	IDA IDA: 通过直接分析推断	14506257	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	21220294	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16815977	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endoplasmic reticulum organization	IDA IDA: 通过直接分析推断	19665976	GOA
involved in endoplasmic reticulum tubular network membrane organization	IMP IMP: 通过突变表型推断	27619977	GOA
involved in protein homooligomerization	IDA IDA: 通过直接分析推断	14506257	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	19665976	GOA
located in endoplasmic reticulum tubular network membrane	IDA IDA: 通过直接分析推断	27619977	GOA
located in membrane	IDA IDA: 通过直接分析推断	14506257	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

ATL1 蛋白结构

GBP

0
100
200
300
400
500
558 a.a.

蛋白主名

其他名称

atlastin-1

GBP-3

重组 ATL1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P77214	SPG3A/ATL1 Protein, Human (sf9, His)	Q8WXF7-1 (M1-T447)	≥95%

关联疾病

疾病名称

别名

Spastic Paraplegia 3, Autosomal Dominant

SPG3A	Strumpell Disease
Hereditary Spastic Paraplegia 3a	SPG3
Fsp1	Autosomal Dominant Spastic Paraplegia Type 3
Familial Spastic Paraplegia, Autosomal Dominant, 1	Spastic Paraplegia 3a, Autosomal Dominant
Autosomal Dominant Familial Spastic Paraplegia 1	Autosomal Dominant Spastic Paraplegia 3
Spastic Paraplegia 3	Familial Spastic Paraplegia Autosomal Dominant 1
Strumpell-Lorrain Syndrome	Paraplegia, Spastic, Autosomal Dominant, Type 3a
Spastic Paraplegia, Hereditary

Neuropathy, Hereditary Sensory, Type Id

HSN1D	Hereditary Sensory Neuropathy Type 1d
Neuropathy, Hereditary Sensory, Type 1d	Neuropathy, Hereditary Sensory, 1d
Hereditary Sensory Neuropathy Type Id	Neuropathy, Sensory, Hereditary, Type Id

Spastic Paraplegia 3a

Spg3a	Atl1-Hsp
Spastic Paraplegia Type 3a	Spastic Paraplegia 3
Spastic Paraplegia 3, Autosomal Dominant

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 73, Autosomal Dominant

SPG73	Hereditary Spastic Paraplegia 73
Autosomal Dominant Spastic Paraplegia Type 73	Autosomal Dominant Spastic Paraplegia 73
Paraplegia, Spastic, Autosomal Dominant, Type 73

Masa Syndrome

L1 Syndrome	Crash Syndrome
X-Linked Hydrocephalus Syndrome	SPG1
Gareis-Mason Syndrome	Spastic Paraplegia 1, X-Linked
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome	L1cam Syndrome
Spastic Paraplegia 1	Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Clasped Thumb And Mental Retardation	Thumb, Congenital Clasped, With Mental Retardation
Adducted Thumb With Mental Retardation	Hereditary Spastic Paraplegia 1
X-Linked Complicated Hereditary Spastic Paraplegia Type 1	X-Linked Corpus Callosum Agenesis
X-Linked Spastic Paraplegia 1	L1 Disease
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	Adducted Thumb With Intellectual Disability
Clasped Thumb And Intellectual Disability	Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
Thumb Congenital Clasped With Intellectual Disability	X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
Adducted Thumbs-Mental Retardation Syndrome	Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
Mental Retardation-Clasped Thumb Syndrome	Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
Spastic Paraplegia Type 1, X-Linked	MASA
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus	Crash
Masa Syndrome

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Spastic Paraplegia 12, Autosomal Dominant

SPG12	Hereditary Spastic Paraplegia 12
Autosomal Dominant Spastic Paraplegia Type 12	Autosomal Dominant Spastic Paraplegia 12
Spastic Paraplegia 12	Spastic Paraplegia-12
Paraplegia, Spastic, Autosomal Dominant, Type 12

Spastic Paraplegia 6, Autosomal Dominant

SPG6	Fsp3
Hereditary Spastic Paraplegia 6	Autosomal Dominant Spastic Paraplegia Type 6
Spastic Paraplegia 6	Familial Spastic Paraplegia Autosomal Dominant 3
Familial Spastic Paraplegia, Autosomal Dominant, 3	Autosomal Dominant Familial Spastic Paraplegia Type 3
Autosomal Dominant Spastic Paraplegia 6	Spastic Paraplegia-6
Paraplegia, Spastic, Type 6

Spastic Paraplegia 13, Autosomal Dominant

SPG13	Hereditary Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia 13	Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia Type 13	Spastic Paraplegia-13
Paraplegia, Spastic, Type 13

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Spastic Paraplegia 14, Autosomal Recessive

SPG14	Hereditary Spastic Paraplegia 14
Autosomal Recessive Spastic Paraplegia Type 14	Autosomal Recessive Spastic Paraplegia 14
Spastic Paraplegia 14

Spastic Paraplegia 61, Autosomal Recessive

SPG61	Hereditary Spastic Paraplegia 61
Autosomal Recessive Spastic Paraplegia Type 61	Autosomal Recessive Spastic Paraplegia 61
Paraplegia, Spastic, Type 61, Autosomal Recessive

Spastic Paraplegia 42, Autosomal Dominant

SPG42	Hereditary Spastic Paraplegia 42
Autosomal Dominant Spastic Paraplegia Type 42	Autosomal Dominant Spastic Paraplegia 42
Paraplegia, Spastic, Type 42, Autosomal Dominant

Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome	SPG20
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting	Spastic Paraplegia, Autosomal Recessive, Troyer Type
Autosomal Recessive Spastic Paraplegia Type 20	Autosomal Recessive Hereditary Spastic Paraplegia
Spastic Paraplegia 20	Cross-Mckusick Syndrome
Autosomal Recessive Spastic Paraplegia 20	Autosomal Recessive Spastic Paraplegia Troyer Type
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting	Hereditary Spastic Paraplegia 20
Spastic Paraplegia Type 20	Hereditary Spastic Paraplegia
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome	Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
Spastic Paraplegia Autosomal Recessive Troyer Type	Trs
Spastic Paraplegia Hereditary Autosomal Recessive	Spastic Paraplegia, Hereditary

Spastic Paraplegia 43, Autosomal Recessive

SPG43	Hereditary Spastic Paraplegia 43
Autosomal Recessive Spastic Paraplegia Type 43	Autosomal Recessive Spastic Paraplegia 43
Paraplegia, Spastic, Type 43, Autosomal Recessive

Retinitis Pigmentosa 3

RP3	Retinitis Pigmentosa 15
Rp15	Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
Cone-Rod Degeneration, X-Linked	Retinitis Pigmentosa Type 15
X-Linked Cone-Rod Degeneration	X-Linked Retinitis Pigmentosa 3
Xlrp3	Xlrp-3
Retinitis Pigmentosa-3	Retinitis Pigmentosa, Type 3

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30	Spg30
Autosomal Recessive Spastic Paraplegia 30

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

Spastic Paraplegia 57, Autosomal Recessive

SPG57	Hereditary Spastic Paraplegia 57
Autosomal Recessive Spastic Paraplegia Type 57	Autosomal Recessive Spastic Paraplegia 57
Spastic Paraplegia Due To Partial Tfg Deficiency	Paraplegia, Spastic, Type 57, Autosomal Recessive

Spastic Paraplegia 31, Autosomal Dominant

SPG31	Hereditary Spastic Paraplegia 31
Spastic Paraplegia 31	Autosomal Dominant Spastic Paraplegia 31
Autosomal Dominant Spastic Paraplegia Type 31	Spastic Paraplegia Type 31
Paraplegia, Spastic, Autosomal Dominant, Type 31

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Spastic Paraplegia 36, Autosomal Dominant

SPG36	Hereditary Spastic Paraplegia 36
Autosomal Dominant Spastic Paraplegia Type 36	Autosomal Dominant Spastic Paraplegia 36

Spastic Paraplegia 18, Autosomal Recessive

SPG18	Idmdc
Hereditary Spastic Paraplegia 18	Intellectual Disability, Motor Dysfunction, And Joint Contractures
Autosomal Recessive Spastic Paraplegia Type 18	Autosomal Recessive Spastic Paraplegia 18
Intellectual Disability, Motor Dysfunction And Joint Contractures	Spastic Paraplegia 18
Intellectual Disability Motor Dysfunction And Joint Contractures	Paraplegia, Spastic, Type 18

Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia 49
Spg49	Paraplegia, Spastic, Type 49, Autosomal Recessive

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Spastic Paraplegia 54, Autosomal Recessive

SPG54	Hereditary Spastic Paraplegia 54
Autosomal Recessive Spastic Paraplegia Type 54	Autosomal Recessive Spastic Paraplegia 54
Paraplegia, Spastic, Type 54, Autosomal Recessive

Spastic Paraplegia 24, Autosomal Recessive

SPG24	Spastic Paraplegia 24
Hereditary Spastic Paraplegia 24	Autosomal Recessive Spastic Paraplegia Type 24
Autosomal Recessive Spastic Paraplegia 24

Spastic Paraplegia 53, Autosomal Recessive

SPG53	Hereditary Spastic Paraplegia 53
Autosomal Recessive Spastic Paraplegia Type 53	Autosomal Recessive Spastic Paraplegia 53
Paraplegia, Spastic, Type 53, Autosomal Recessive

Spastic Paraplegia 4, Autosomal Dominant

SPG4	Hereditary Spastic Paraplegia 4
Fsp2	Autosomal Dominant Spastic Paraplegia Type 4
Familial Spastic Paraplegia, Autosomal Dominant, 2	Autosomal Dominant Spastic Paraplegia 4
Familial Spastic Paraplegia Autosomal Dominant 2	Paraplegia, Spastic, Autosomal Dominant, Type 4

Spastic Paraplegia 62, Autosomal Recessive

SPG62	Hereditary Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia Type 62	Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia 62	Paraplegia, Spastic, Type 62

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35	Spg35
Autosomal Recessive Spastic Paraplegia 35	Fahn
Fatty Acid Hydroxylase-Associated Neurodegeneration	Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia, Optic Atrophy, And Neuropathy

Spoan Syndrome	SPOAN
Spastic Paraplegia, Optic Atropy, And Neuropathy	Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Spastic Paraplegia 8, Autosomal Dominant

SPG8	Hereditary Spastic Paraplegia 8
Autosomal Dominant Spastic Paraplegia Type 8	Autosomal Dominant Spastic Paraplegia 8
Paraplegia, Spastic, Autosomal Dominant, Type 8

Spastic Paraplegia 34, X-Linked

SPG34	Hereditary Spastic Paraplegia 34
X-Linked Spastic Paraplegia Type 34	X-Linked Spastic Paraplegia 34

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome	SPG17
Silver Spastic Paraplegia Syndrome	Spastic Paraplegia With Amyotrophy Of Hands And Feet
Hereditary Spastic Paraplegia 17	Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17	Spastic Paraplegia-Amyotrophy Of Hands And Feet
Autosomal Dominant Spastic Paraplegia 17	Dhmn5b
Distal Hereditary Motor Neuropathy Type 5b	Paraplegia, Spastic, Autosomal Dominant, Type 17
Russell-Silver Syndrome	Neuronopathy, Distal Hereditary Motor, Type Vb

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Spastic Ataxia

Spax	Ataxia, Spastic

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	ATL1	VGNC	VGNC:38230
Macaca mulatta	ATL1	VGNC	VGNC:70049
Felis catus	ATL1	VGNC	VGNC:60008
Rattus norvegicus	ATL1	RGD	RGD:1359232
Bos taurus	ATL1	VGNC	VGNC:26265
Mus musculus	ATL1	MGD	MGI:1921241
Others	ATL1	NCBI

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ATL1 - atlastin GTPase 1 Gene

关于 ATL1

功能概要

ATL1 基因产物(3)

ATL1 蛋白结构

重组 ATL1 蛋白

关联疾病

直系同源

热门区域

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ATL1 - atlastin GTPase 1 Gene

关于 ATL1

功能概要

ATL1 基因产物(3)

ATL1 蛋白结构

重组 ATL1 蛋白

关联疾病

相关产品

直系同源

热门区域

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