Entry - *162250 - NEUROFILAMENT PROTEIN, MEDIUM POLYPEPTIDE; NEFM - OMIM
 
* 162250

NEUROFILAMENT PROTEIN, MEDIUM POLYPEPTIDE; NEFM


Alternative titles; symbols

NEUROFILAMENT 3; NEF3
NFM


HGNC Approved Gene Symbol: NEFM

Cytogenetic location: 8p21.2     Genomic coordinates (GRCh38): 8:24,913,761-24,919,093 (from NCBI)


TEXT

Description

NEF3 is an intermediate-sized cytoskeletal neurofilament that localizes to neuronal axons and dendrites (Myers et al., 1987).


Cloning and Expression

By sequencing clones obtained from a 1-day-old infant basal ganglia cDNA library and a genomic library, Myers et al. (1987) cloned NEF3, which they called NFM. The deduced 915-amino acid protein has a calculated molecular mass of approximately 102 kD. NEF3 has an N-terminal alpha-helical region and a C-terminal repeat domain. It had an apparent molecular mass of 150 kD by SDS-PAGE.


Gene Structure

Myers et al. (1987) determined that the NEF3 gene contains 3 exons. They identified a TATAAA motif at the proximal 5-prime UTR.


Mapping

Hartz (2014) mapped the NEF3 gene to chromosome 8p21.2 based on an alignment of the NEF3 sequence (GenBank BC002421) with the genomic sequence (GRCh37).

Levy et al. (1987) found that the mouse Nef3 and Nefl (162280) genes appeared to be on chromosome 14.


REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 5/21/2014.

  2. Levy, E., Liem, R. K. H., D'Eustachio, P., Cowan, N. J. Structure and evolutionary origin of the gene encoding NF-M, the middle-molecular-mass neurofilament protein. Europ. J. Biochem. 166: 71-77, 1987. [PubMed: 3036526, related citations] [Full Text]

  3. Myers, M. W., Lazzarini, R. A., Lee, V. M.-Y., Schlaepfer, W. W., Nelson, D. L. The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. EMBO J. 6: 1617-1626, 1987. [PubMed: 3608989, related citations] [Full Text]


Patricia A. Hartz - updated : 5/21/2014
Victor A. McKusick - updated : 9/8/2000
Creation Date:
Victor A. McKusick : 5/12/1988
carol : 07/11/2014
mgross : 5/21/2014
mcolton : 5/21/2014
carol : 6/21/2013
carol : 9/15/2000
carol : 9/15/2000
terry : 9/8/2000
psherman : 5/28/1999
warfield : 3/31/1994
supermim : 3/16/1992
carol : 8/7/1991
supermim : 3/20/1990
ddp : 10/27/1989
root : 9/20/1988

* 162250

NEUROFILAMENT PROTEIN, MEDIUM POLYPEPTIDE; NEFM


Alternative titles; symbols

NEUROFILAMENT 3; NEF3
NFM


HGNC Approved Gene Symbol: NEFM

Cytogenetic location: 8p21.2     Genomic coordinates (GRCh38): 8:24,913,761-24,919,093 (from NCBI)


TEXT

Description

NEF3 is an intermediate-sized cytoskeletal neurofilament that localizes to neuronal axons and dendrites (Myers et al., 1987).


Cloning and Expression

By sequencing clones obtained from a 1-day-old infant basal ganglia cDNA library and a genomic library, Myers et al. (1987) cloned NEF3, which they called NFM. The deduced 915-amino acid protein has a calculated molecular mass of approximately 102 kD. NEF3 has an N-terminal alpha-helical region and a C-terminal repeat domain. It had an apparent molecular mass of 150 kD by SDS-PAGE.


Gene Structure

Myers et al. (1987) determined that the NEF3 gene contains 3 exons. They identified a TATAAA motif at the proximal 5-prime UTR.


Mapping

Hartz (2014) mapped the NEF3 gene to chromosome 8p21.2 based on an alignment of the NEF3 sequence (GenBank BC002421) with the genomic sequence (GRCh37).

Levy et al. (1987) found that the mouse Nef3 and Nefl (162280) genes appeared to be on chromosome 14.


REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 5/21/2014.

  2. Levy, E., Liem, R. K. H., D'Eustachio, P., Cowan, N. J. Structure and evolutionary origin of the gene encoding NF-M, the middle-molecular-mass neurofilament protein. Europ. J. Biochem. 166: 71-77, 1987. [PubMed: 3036526] [Full Text: https://doi.org/10.1111/j.1432-1033.1987.tb13485.x]

  3. Myers, M. W., Lazzarini, R. A., Lee, V. M.-Y., Schlaepfer, W. W., Nelson, D. L. The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. EMBO J. 6: 1617-1626, 1987. [PubMed: 3608989] [Full Text: https://doi.org/10.1002/j.1460-2075.1987.tb02409.x]


Contributors:
Patricia A. Hartz - updated : 5/21/2014
Victor A. McKusick - updated : 9/8/2000

Creation Date:
Victor A. McKusick : 5/12/1988

Edit History:
carol : 07/11/2014
mgross : 5/21/2014
mcolton : 5/21/2014
carol : 6/21/2013
carol : 9/15/2000
carol : 9/15/2000
terry : 9/8/2000
psherman : 5/28/1999
warfield : 3/31/1994
supermim : 3/16/1992
carol : 8/7/1991
supermim : 3/20/1990
ddp : 10/27/1989
root : 9/20/1988