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NEFH

GENERAL INFORMATION

Gene name

 NEFH

Gene description

 Neurofilament, heavy polypeptide

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (prostate)
GTEx:Tissue enhanced (prostate)
FANTOM5:Tissue enhanced (brain, cerebellum)

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in CNS, peripheral nerves and glandular cells of prostate.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA061615 , CAB007786
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Prostate

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (prostate)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (prostate)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (brain, cerebellum)

GENE INFORMATION

Gene name

 NEFH

Synonyms

Description

 Neurofilament, heavy polypeptide (HGNC Symbol)

Entrez gene summary

 Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

Chromosome

 22

Cytoband

 q12.2

Chromosome location (bp)

 29480230 - 29491390

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000100285 (version 83.38)

Entrez gene

 4744

UniProt

 P12036 (UniProt - Evidence at protein level)

neXtProt

 NX_P12036

Antibodypedia

 NEFH antibodies

PROTEIN BROWSER
NEFH-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NEFH-001
ENSP00000311997
ENST00000310624
P12036 [Direct mapping]
Neurofilament heavy polypeptide
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000226 [microtubule cytoskeleton organization]
GO:0001552 [ovarian follicle atresia]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005882 [intermediate filament]
GO:0005883 [neurofilament]
GO:0007409 [axonogenesis]
GO:0007420 [brain development]
GO:0008017 [microtubule binding]
GO:0015643 [toxic substance binding]
GO:0019894 [kinesin binding]
GO:0019901 [protein kinase binding]
GO:0021510 [spinal cord development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030031 [cell projection assembly]
GO:0030424 [axon]
GO:0030674 [protein binding, bridging]
GO:0031103 [axon regeneration]
GO:0031175 [neuron projection development]
GO:0033693 [neurofilament bundle assembly]
GO:0034599 [cellular response to oxidative stress]
GO:0042220 [response to cocaine]
GO:0043204 [perikaryon]
GO:0043209 [myelin sheath]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0045110 [intermediate filament bundle assembly]
GO:0045502 [dynein binding]
GO:0046982 [protein heterodimerization activity]
GO:0048936 [peripheral nervous system neuron axonogenesis]
GO:0060052 [neurofilament cytoskeleton organization]
GO:0061564 [axon development]
GO:0071392 [cellular response to estradiol stimulus]
GO:0097418 [neurofibrillary tangle]
GO:0097481 [neuronal postsynaptic density]
GO:1902513 [regulation of organelle transport along microtubule]
GO:1903935 [response to sodium arsenite]
GO:1903937 [response to acrylamide]
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 1020 aa
111.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.