NFASC - neurofascin Gene

Also Known as NF; NRCAML; NEDCPMD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23114

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23897819 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
30850329 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NFASC Protein Structure

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.
Protein Preferred Names Protein Names

neurofascin

  • neurofascin homolog

Recombinant NFASC Proteins

Cat. No. Product Name Accession Purity
HY-P74706 Neurofascin Protein, Human (HEK293, His, solution) O94856-12 (I25-Q939) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P74707 Neurofascin Protein, Human (HEK293, hFc) O94856-12 (I25-Q939) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P74708 Neurofascin Protein, Human (Biotinylated, HEK293, hFc) O94856-12 (I25-Q939) ≥ 90%, as determined by reducing SDS-PAGE.

NFASC Antibodies

Cat. No. Product Name Application Reactivity
HY-P81965 Neurofascin Antibody (YA1710) WB Human, Mouse, Rat
HY-P81965A Neurofascin Antibody (YA1710)(PBS only) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09236 NFASC Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20065 Nfasc Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26569 Nfasc Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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