Nuclear Export Mediator Factor

Alternative Names

NEMF
Serologically Defined Colon Cancer Antigen 1
SDCCAG1
NY-CO-1

Length

70,706 bases

No. of Exons

No. of isoforms

Protein Name

Ribosome quality control complex subunit NEMF

Molecular Mass

122954 Da

Amino Acid Count

1076

Genomic Location

chr14:49,782,083-49,852,788

Gene Map Locus

14q21.3

Description

The NEMF gene encodes a protein that forms a component of the ribosome quality control complex. By recognizing an exposed, nascent chain-conjugated tRNA moiety, the NEMF protein is responsible for the selective recognition and ubiquitination of stalled 60s subunits by the ubiquitin ligase listerin. Further, as the name suggests, NEMF indirectly plays a role in nuclear export. Multiple isoforms of the NEMF protein exist due to alternative splicing. The gene is found to be expressed in the brain, heart, liver, lung, spleen and skeletal muscle.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004713.6:c.1234_1235insC	Saudi Arabia	NC_000014.9:g.49828805_49828806insG	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	NG_051075.1:g.29398_29399insC; NM_004713.6:c.1234_1235insC; NP_004704.3:p.Asn412ThrfsTer11	1892495985	986405
NM_004713.6:c.2517_2520del	Egypt	NC_000014.9:g.49795890_49795893del		Likely Pathogenic	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	NG_051075.1:g.62311_62314del; NM_004713.6:c.2517_2520del; NP_004704.3:p.Gly841ArgfsTer27
NM_004713.6:c.2608C>T	Syria	NC_000014.9:g.49795802G>A	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	NG_051075.1:g.62402C>T; NM_004713.6:c.2608C>T; NP_004704.3:p.Arg870Ter	766931948	986400
NM_004713.6:c.2871_2875dup	Saudi Arabia	NC_000014.9:g.49789166_49789170dup	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	NG_051075.1:g.69034_69038dup; NM_004713.6:c.2871_2875dup; NP_004704.3:p.Asp959ValfsTer2	1890324880	986402
NM_004713.6:c.574+1G>T	Saudi Arabia	NC_000014.9:g.49838138C>A	Likely Pathogenic	Likely Pathogenic	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	NG_051075.1:g.20066G>T; NM_004713.6:c.574+1G>T; NP_004704.3:p.?	1892998702	993000

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=NEMF

Contributors

Asha Deepthi: 23.11.2022
Sayeeda Hana: 19.01.2017

Edit History

Asha Deepthi: 23.11.2022
Sami Bizzari: 17.05.2017

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