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    NELFA negative elongation factor complex member A [ Homo sapiens (human) ]

    Gene ID: 7469, updated on 8-Jul-2021

    Summary

    Official Symbol
    NELFAprovided by HGNC
    Official Full Name
    negative elongation factor complex member Aprovided by HGNC
    Primary source
    HGNC:HGNC:12768
    See related
    Ensembl:ENSG00000185049 MIM:606026
    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
    WHSC2; NELF-A; P/OKcl.15
    Summary
    This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 9.8), ovary (RPKM 6.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NELFA in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1982717..2041914, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1984450..2010701, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene Neighboring gene nuclear receptor binding SET domain protein 2 Neighboring gene small Cajal body-specific RNA 22 Neighboring gene microRNA 943 Neighboring gene chromosome 4 open reading frame 48 Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene N-acetyltransferase 8 like Neighboring gene DNA polymerase nu

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat NELF represses HIV-1 transcription by pausing the RNA polymerase II complex PubMed
    tat NELF associates with HIV-1 Tat as part of the HIV-1 transcription elongation complex PubMed
    tat WHSC2 is hypothesized to function as a transcriptional repressor and has been shown to be downregulated by HIV-1 Tat PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10442, FLJ25112

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of NELF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of NELF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    negative elongation factor A
    Names
    wolf-Hirschhorn syndrome candidate 2 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009232.1 RefSeqGene

      Range
      5259..31510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005663.5NP_005654.4  negative elongation factor A

      Status: REVIEWED

      Source sequence(s)
      AB044549, BC002764
      Consensus CDS
      CCDS3358.2
      Related
      ENSP00000372335.4, ENST00000382882.9

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      1982717..2041914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008589.2XP_016864078.1  negative elongation factor A isoform X1

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