NEFM neurofilament, medium polypeptide [Homo sapiens] - Gene

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Summary

Official Symbol: NEFMprovided by HGNC
Official Full Name: neurofilament, medium polypeptideprovided by HGNC
Primary source: HGNC:7734
See related: Ensembl:ENSG00000104722; HPRD:01205; MIM:162250; Vega:OTTHUMG00000131990
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NFM; NEF3; NF-M
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 medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

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Genomic context

Location :: 8p21

Sequence :: Chromosome: 8; NC_000008.10 (24771274..24776606)

See NEFM in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

direct evidence that NF-M/H are hyperphosphorylated in Alzheimer disease
Title: Quantitative phosphoproteomic analysis of neuronal intermediate filament proteins (NF-M/H) in Alzheimer's disease by iTRAQ.
the importance of alpha-internexin and NF-L in regulating the conformations of NF-M and NF-H
Title: How the projection domains of NF-L and alpha-internexin determine the conformations of NF-M and NF-H in neurofilaments.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of the dopamine receptor interacting protein gene, NEF3, with early response to antipsychotic medication.
mutations in neurofilaments are possible risk factors that may contribute to pathogenesis in amytrophic lateral sclerosis in conjunction with one or more additional genetic or environmental factors, but are not significant primary causes
Title: Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
variation in NEF3 influence rate of response to typical antipsychotic medication
Title: Association of the dopamine receptor interacting protein gene, NEF3, with early response to antipsychotic medication.
The G336S variant of hNF-M does not affect the formation of IF networks nor the distribution of the variant hNFM protein. If the G336S variant is involved in the development of PD, it isn't due to defects in the assembly and distribution of NFs.
Title: The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P07197	P02649	APOE	HPRD	PubMed
P07197	Q8N4C8	MINK1	HPRD	PubMed
P07197	P12036	NEFH	HPRD	PubMed
P07197	P61764	STXBP1	HPRD	PubMed
BioGRID:110818	BioGRID:106845	APOE	BioGRID	PubMed	Reconstituted Complex
BioGRID:110818	BioGRID:118061	DISC1	BioGRID	PubMed	Two-hybrid
BioGRID:110818	BioGRID:114397	SQSTM1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110818	BioGRID:116682	TNIK	BioGRID	PubMed	Two-hybrid
BioGRID:110818	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info
structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
axon	TAS Traceable Author Statement more info	PubMed
cytoskeleton	IEA Inferred from Electronic Annotation more info
neurofilament	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: neurofilament medium polypeptide

Names: neurofilament medium polypeptide; neurofilament 3; 160 kDa neurofilament protein; neurofilament triplet M protein; neurofilament-3 (150 kD medium); neurofilament, medium polypeptide 150kDa

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008388.1 RefSeqGene

Range

5001..10333

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001105541.1 → NP_001099011.1 neurofilament medium polypeptide isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.

Source sequence(s)

AF106564, AF181990, BI496345, BP247321, DC318935, DC332005, DC352660

Consensus CDS

CCDS47831.1

UniProtKB/TrEMBL

E9PBF7

UniProtKB/TrEMBL

Q9UK51

Related

ENSP00000412295, OTTHUMP00000224887, ENST00000433454, OTTHUMT00000375487

Conserved Domains (2) summary

PTZ00121
Location:228 – 315
Blast Score: 91

PTZ00121; MAEBL; Provisional

pfam00038
Location:1 – 35
Blast Score: 212

Filament; Intermediate filament protein
NM_005382.2 → NP_005373.2 neurofilament medium polypeptide isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC071752, BC096757, BP311096

Consensus CDS

CCDS6046.1

UniProtKB/Swiss-Prot

P07197

Related

ENSP00000221166, OTTHUMP00000162831, ENST00000221166, OTTHUMT00000254954

Conserved Domains (2) summary

COG0810
Location:601 – 686
Blast Score: 92

TonB; Periplasmic protein TonB, links inner and outer membranes [Cell envelope biogenesis, outer membrane]

pfam00038
Location:100 – 411
Blast Score: 995

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

24771274..24776606

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

23315978..23321310

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF106564.3 (113837..119136)	None
genomic	CH471080.2	EAW63602.1
genomic	Y00067.1	CAA68276.1
mRNA	AF181990.1	AAF00492.1
mRNA	AK294681.1	BAG57843.1
mRNA	AK296226.1	BAG58949.1
mRNA	BC002421.2	None
mRNA	BC071752.1	None
mRNA	BC096757.1	AAH96757.1
mRNA	BI496345.1	None
mRNA	BP247321.1	None
mRNA	BP311096.1	None
mRNA	DC318935.1	None
mRNA	DC332005.1	None
mRNA	DC352660.1	None
mRNA	EF560736.1	ABQ59046.1
mRNA	EF560737.1	ABQ59047.1
other-genetic	GQ129242.1	ACT64376.1
other-genetic	GQ129243.1	ACT64377.1