2. Gene
  3. NFASC - neurofascin Gene

NFASC - neurofascin Gene

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

中文名称：神经成束蛋白

种属: Homo sapiens

同用名: NF; NRCAML; NEDCPMD

基因 ID: 23114 | 基因类型: protein coding

关于 NFASC

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:204,828,652-205,022,822 (from NCBI)

This gene has 24 transcripts (splice variants), 288 orthologues, 36 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 17.7), kidney (RPKM 6.6) and 19 other tissues.

功能概要

该基因编码具有多个 IGcam 和纤连蛋白结构域的 L1 家族免疫球蛋白细胞粘附分子。在早期发育过程中，该蛋白质在轴突生长、轴突束化和轴突起始段 (AIS) 和轴突上的 Ranvier 节点的组织中发挥作用。 AIS 和 Ranvier 节点都包含高密度的电压门控 Na+ (Nav) 通道，这些通道通过与细胞骨架和支架蛋白 (包括该蛋白、胶质蛋白、锚蛋白 3 (锚蛋白-G) 和 betaIV 血影蛋白) 的相互作用而聚集。这种蛋白质将 AIS 细胞外基质连接到细胞内细胞骨架。该基因经历了广泛的选择性剪接，一些变体的全长性质尚未确定。[RefSeq 提供，2009 年 5 月]

This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular Cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]

NFASC 基因产物(10)

mRNA Protein Name
NM_001005388.3 NP_001005388.2 neurofascin isoform 1 precursor
NM_001005389.2 NP_001005389.2 neurofascin isoform 5 precursor
NM_001160331.2 NP_001153803.1 neurofascin isoform 2 precursor
NM_001160332.2 NP_001153804.1 neurofascin isoform 3 precursor
NM_001160333.2 NP_001153805.1 neurofascin isoform 6 precursor
NM_001365986.1 NP_001352915.1 neurofascin isoform 7 precursor
NM_001378329.1 NP_001365258.1 neurofascin isoform 8 precursor
NM_001378330.1 NP_001365259.1 neurofascin isoform 9 precursor
NM_001378331.1 NP_001365260.1 neurofascin isoform 9 precursor
NM_015090.4 NP_055905.2 neurofascin isoform 4 precursor
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
23897819 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
30850329 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

NFASC 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (42 - 135)

Ig_2

Ig_2: Immunoglobulin domain (148 - 233)

I-set

I-set: Immunoglobulin I-set domain (255 - 333)

I-set

I-set: Immunoglobulin I-set domain (341 - 425)

I-set

I-set: Immunoglobulin I-set domain (447 - 518)

I-set

I-set: Immunoglobulin I-set domain (524 - 609)

fn3

fn3: Fibronectin type III domain (630 - 714)

fn3

fn3: Fibronectin type III domain (729 - 812)

fn3

fn3: Fibronectin type III domain (826 - 910)

fn3

fn3: Fibronectin type III domain (1014 - 1086)

Bravo_FIGEY

Bravo_FIGEY: Bravo-like intracellular region (1132 - 1218)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1240 a.a.
蛋白主名 其他名称

neurofascin

neurofascin homolog

重组 NFASC 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74706 Neurofascin Protein, Human (HEK293, His) O94856-12 (I25-Q939) ≥95%
HY-P74707 Neurofascin Protein, Human (HEK293, hFc) O94856-12 (I25-Q939) ≥95%
HY-P74708 Neurofascin Protein, Human (Biotinylated, HEK293, hFc) O94856-12 (I25-Q939) ≥95%

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction

NEDCPMD
Autoimmune Neuropathy
Polyradiculopathy
Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy
Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy

Cidp

Polyradiculoneuropathy Chronic Inflammatory Demyelinating

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Generalized Epilepsy With Febrile Seizures Plus, Type 1

GEFSP1

GEFS+1

Generalized Epilepsy With Febrile Seizures Plus 1

Gefs+, Type 1

Generalised Epilepsy With Febrile Seizures Plus 1

Generalised Epilepsy With Febrile Seizures Plus Type 1

Generalized Epilepsy With Febrile Seizures Plus Type 1

Gefs+ Type 1

Epilepsy, Generalized, With Febrile Seizures Plus, Type 1
Autoimmune Disease Of Peripheral Nervous System
Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies
Autoimmune Peripheral Neuropathy
Miller Fisher Syndrome

Cranial Variant Of Gbs

Fisher'S Syndrome

Miller-Fisher Variant Of Guillain-Barre Syndrome

Miller-Fisher Syndrome

Cranial Variant Of Guillain-Barré Syndrome

Cranial Variant Of Guillain-Barre Syndrome

Fisher Syndrome
Locked-In Syndrome

Locked In Syndrome

Cerebromedullospinal Disconnection

Locked-In State

Quadriplegia
Combined Oxidative Phosphorylation Deficiency 30

COXPD30

Combined Oxidative Phosphorylation Defect Type 30

Combined Oxidative Phosphorylation Deficiency, Type 30
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
Hypotonia
Median Neuropathy
Plexopathy
Brachial Plexus Neuritis

Brachial Neuritis

Parsonage-Aldren-Turner Syndrome
Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5

SCA5

Spinocerebellar Ataxia-5

Ataxia, Spinocerebellar, Type 5
Polyneuropathy

Polyneuropathies
Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus
Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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
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
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-RS09236 NFASC Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NFASC RGD RGD:620911
Macaca mulatta NFASC VGNC VGNC:75278
Canis familiaris NFASC VGNC VGNC:43764
Felis catus NFASC VGNC VGNC:63788
Mus musculus NFASC MGD MGI:104753
Bos taurus NFASC VGNC VGNC:32028
Others NFASC NCBI
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