Nuclear Export Mediator Factor

Alternative Names

  • NEMF
  • Serologically Defined Colon Cancer Antigen 1
  • SDCCAG1
  • NY-CO-1
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OMIM Number

608378

NCBI Gene ID

9147

Uniprot ID

O60524

Length

70,706 bases

No. of Exons

37

No. of isoforms

5

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

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004713.6:c.1234_1235insCSaudi ArabiaNC_000014.9:g.49828805_49828806insGPathogenicPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyNG_051075.1:g.29398_29399insC; NM_004713.6:c.1234_1235insC; NP_004704.3:p.Asn412ThrfsTer111892495985986405
NM_004713.6:c.2517_2520delEgyptNC_000014.9:g.49795890_49795893delLikely PathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyNG_051075.1:g.62311_62314del; NM_004713.6:c.2517_2520del; NP_004704.3:p.Gly841ArgfsTer27
NM_004713.6:c.2608C>TSyriaNC_000014.9:g.49795802G>APathogenicPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyNG_051075.1:g.62402C>T; NM_004713.6:c.2608C>T; NP_004704.3:p.Arg870Ter766931948986400
NM_004713.6:c.2871_2875dupSaudi ArabiaNC_000014.9:g.49789166_49789170dupPathogenicPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyNG_051075.1:g.69034_69038dup; NM_004713.6:c.2871_2875dup; NP_004704.3:p.Asp959ValfsTer21890324880986402
NM_004713.6:c.574+1G>TSaudi ArabiaNC_000014.9:g.49838138C>ALikely PathogenicLikely PathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyNG_051075.1:g.20066G>T; NM_004713.6:c.574+1G>T; NP_004704.3:p.?1892998702993000
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