NEFM neurofilament medium chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEFMprovided by HGNC
Official Full Name: neurofilament medium chainprovided by HGNC
Primary source: HGNC:HGNC:7734
See related: Ensembl:ENSG00000104722 MIM:162250; AllianceGenome:HGNC:7734
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]
Expression: Biased expression in brain (RPKM 56.0), adrenal (RPKM 9.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (24913761..24919093)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (25188914..25194246)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (24771274..24776606)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.
Title: Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder.
NEFM DNA methylation correlates with immune infiltration and survival in breast cancer.
Title: NEFM DNA methylation correlates with immune infiltration and survival in breast cancer.
LINC00294 negatively modulates cell proliferation in glioma through a neurofilament medium-mediated pathway via interacting with miR-1278.
Title: LINC00294 negatively modulates cell proliferation in glioma through a neurofilament medium-mediated pathway via interacting with miR-1278.
the regulation of NEFM and NEFH mRNA levels by miRNAs, was investigated.
Title: Dysregulation of human NEFM and NEFH mRNA stability by ALS-linked miRNAs.
Study determined that spinophilin binding to neurofilament medium required overexpression of the catalytic subunit of protein kinase A and was decreased by cyclin-dependent protein kinase 5.
Title: Mechanisms and Consequences of Dopamine Depletion-Induced Attenuation of the Spinophilin/Neurofilament Medium Interaction.
NEFM is a negative regulator of aldosterone production and cell proliferation, in part by facilitating D1R internalization from the plasma membrane in Adosterone-producing Adenomas.
Title: NEFM (Neurofilament Medium) Polypeptide, a Marker for Zona Glomerulosa Cells in Human Adrenal, Inhibits D1R (Dopamine D1 Receptor)-Mediated Secretion of Aldosterone.
There was a strongly elevated reactivity against neurofilament medium in a subset of schizophrenia patients compared to controls.
Title: Elevated levels of autoantibodies targeting the M1 muscarinic acetylcholine receptor and neurofilament medium in sera from subgroups of patients with schizophrenia.
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.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat modulates NEFM expression in neuron cells	PubMed
Vpr	vpr	The RNA and protein levels of NEFM decreases in Vpr-treated human neurons compared to the untreated control	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NEF3_219 (e-PCR)
- UniSTS:277527

D8S1927 (e-PCR)
- UniSTS:46910

PMC125376P1 (e-PCR)
- UniSTS:270496

MARC_16085-16086:1013616869:1 (e-PCR)
- UniSTS:267954

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in neurofilament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurofilament bundle assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	TAS Traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in neurofibrillary tangle	IDA Inferred from Direct Assay more info	PubMed
located_in neurofilament	TAS Traceable Author Statement more info	PubMed
is_active_in postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: neurofilament medium polypeptide

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

NCBI Reference Sequences (RefSeq)

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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_008388.2 RefSeqGene

Range

5002..10334

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001105541.2 → 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

Q9UK51

Related

ENSP00000412295.2, ENST00000433454.3

Conserved Domains (2) summary

PTZ00121
Location:169 → 488

PTZ00121; MAEBL; Provisional

pfam00038
Location:1 → 35

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

See identical proteins and their annotated locations for NP_005373.2

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

B4DGN2, E9PBF7, P07197, Q4QRK6

UniProtKB/TrEMBL

E7ESP9

Related

ENSP00000221166.5, ENST00000221166.10

Conserved Domains (2) summary

pfam00038
Location:100 → 411

Filament; Intermediate filament protein

pfam04732
Location:10 → 78

Filament_head; Intermediate filament head (DNA binding) region