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

    Gene ID: 9147, updated on 28-Oct-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
    mouse all
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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 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 (65) 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)

    Genotypes

    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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