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NEMF nuclear export mediator factor [ Homo sapiens (human) ]

Gene ID: 9147, updated on 3-Nov-2024

Summary

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Official Symbol
NEMFprovided by HGNC
Official Full Name
nuclear export mediator factorprovided by HGNC
Primary source
HGNC:HGNC:10663
See related
Ensembl:ENSG00000165525 MIM:608378; AllianceGenome:HGNC:10663
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
RQC2; IDDSAPN; NY-CO-1; SDCCAG1
Summary
This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in brain (RPKM 12.2), thyroid (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

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See NEMF in Genome Data Viewer
Location:
14q21.3
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49782083..49852788, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43987877..44058011, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50248801..50319506, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DNA polymerase epsilon 2, accessory subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154169-50154930 Neighboring gene RNA, U6atac small nuclear 30, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154931-50155690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5704 Neighboring gene kelch domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50184541-50185042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5707 Neighboring gene kelch domain containing 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:50288374-50289106 Neighboring gene RNA, U6 small nuclear 539, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5708 Neighboring gene uncharacterized LOC105378179 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr14:50328688-50329288 Neighboring gene RNA component of signal recognition particle 7SL3 Neighboring gene RNA component of signal recognition particle 7SL2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Assignment of the serologically defined colon cancer antigen 1 gene (SDCCAG1) to human chromosome band 14q22 by in situ hybridization. Carbonnelle D, et al. Cytogenet Cell Genet, 1999. PMID 10575219
  2. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy. Ahmed A, et al. Hum Genet, 2021 Apr. PMID 33048237
  3. Failure to Degrade CAT-Tailed Proteins Disrupts Neuronal Morphogenesis and Cell Survival. Udagawa T, et al. Cell Rep, 2021 Jan 5. PMID 33406423
  4. Convergence of mammalian RQC and C-end rule proteolytic pathways via alanine tailing. Thrun A, et al. Mol Cell, 2021 May 20. PMID 33909987, Free PMC Article
  5. Drosophila caliban, a nuclear export mediator, can function as a tumor suppressor in human lung cancer cells. Bi X, et al. Oncogene, 2005 Dec 15. PMID 16103875

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
    Title: Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
  2. Results show that Listerin specificity for nascent chain-60S complexes depends on nuclear export mediator factor.
    Title: Structure and assembly pathway of the ribosome quality control complex.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
MedGen: C5436813 OMIM: 619099 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-aminoacyl-tRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ribosomal large subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribosomal large subunit binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in CAT tailing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nuclear export IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in rescue of stalled ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in rescue of stalled ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ribosome-associated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ribosome-associated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of RQC complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RQC complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosolic ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ribosome quality control complex subunit NEMF
Names
New-York Colon 1
antigen NY-CO-1
caliban homolog
serologically defined colon cancer antigen 1

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

  1. NG_051075.2 RefSeqGene

    Range
    5000..75705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301732.3 → NP_001288661.2  ribosome quality control complex subunit NEMF isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL591767, AL627171, KF459555
    UniProtKB/TrEMBL
    G3V5V3
    Conserved Domains (2) summary
    COG1293
    Location:1 → 623
    YloA; Predicted component of the ribosome quality control (RQC) complex, YloA/Tae2 family, contains fibronectin-binding (FbpA) and DUF814 domains [Translation, ribosomal structure and biogenesis]
    cl22451
    Location:637 → 755
    ASF1_hist_chap; ASF1 like histone chaperone

  2. NM_004713.6 → NP_004704.3  ribosome quality control complex subunit NEMF isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL591767, AL627171, KF459555
    Consensus CDS
    CCDS9694.1
    UniProtKB/Swiss-Prot
    A0JLQ3, B3KSK1, B4DDL3, B4DHA9, B4E3F3, O60524, Q32Q66, Q8WW70, Q9NWG1
    UniProtKB/TrEMBL
    G3V5V3
    Related
    ENSP00000298310.5, ENST00000298310.10
    Conserved Domains (3) summary
    COG1293
    Location:1 → 644
    YloA; Predicted component of the ribosome quality control (RQC) complex, YloA/Tae2 family, contains fibronectin-binding (FbpA) and DUF814 domains [Translation, ribosomal structure and biogenesis]
    pfam11923
    Location:968 → 1067
    DUF3441; Domain of unknown function (DUF3441)
    cl22451
    Location:658 → 776
    ASF1_hist_chap; ASF1 like histone chaperone

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49782083..49852788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431912.1 → XP_047287868.1  ribosome quality control complex subunit NEMF isoform X2

  2. XM_017021761.2 → XP_016877250.1  ribosome quality control complex subunit NEMF isoform X2

    UniProtKB/TrEMBL
    G3V5V3
    Conserved Domains (4) summary
    COG1293
    Location:49 → 415
    YloA; Predicted component of the ribosome quality control (RQC) complex, YloA/Tae2 family, contains fibronectin-binding (FbpA) and DUF814 domains [Translation, ribosomal structure and biogenesis]
    pfam05670
    Location:303 → 377
    DUF814; Domain of unknown function (DUF814)
    pfam11923
    Location:739 → 838
    DUF3441; Domain of unknown function (DUF3441)
    cl22451
    Location:429 → 547
    ASF1_hist_chap; ASF1 like histone chaperone

  3. XM_047431911.1 → XP_047287867.1  ribosome quality control complex subunit NEMF isoform X1

    Related
    ENSP00000452540.1, ENST00000555970.5

  4. XM_011537317.4 → XP_011535619.1  ribosome quality control complex subunit NEMF isoform X3

    Conserved Domains (2) summary
    COG1293
    Location:1 → 580
    YloA; Predicted component of the ribosome quality control (RQC) complex, YloA/Tae2 family, contains fibronectin-binding (FbpA) and DUF814 domains [Translation, ribosomal structure and biogenesis]
    pfam05670
    Location:532 → 582
    DUF814; Domain of unknown function (DUF814)

  5. XM_011537318.4 → XP_011535620.1  ribosome quality control complex subunit NEMF isoform X4

    Conserved Domains (1) summary
    cl40653
    Location:1 → 400
    FbpA; Fibronectin-binding protein A N-terminus (FbpA)

RNA

  1. XR_943557.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43987877..44058011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376963.1 → XP_054232938.1  ribosome quality control complex subunit NEMF isoform X2

  2. XM_054376964.1 → XP_054232939.1  ribosome quality control complex subunit NEMF isoform X2

  3. XM_054376962.1 → XP_054232937.1  ribosome quality control complex subunit NEMF isoform X1

  4. XM_054376965.1 → XP_054232940.1  ribosome quality control complex subunit NEMF isoform X3

  5. XM_054376966.1 → XP_054232941.1  ribosome quality control complex subunit NEMF isoform X4

RNA

  1. XR_008488899.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60524.4 GenPept UniProtKB/Swiss-Prot:O60524

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