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    NFXL1 nuclear transcription factor, X-box binding like 1 [ Homo sapiens (human) ]

    Gene ID: 152518, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NFXL1provided by HGNC
    Official Full Name
    nuclear transcription factor, X-box binding like 1provided by HGNC
    Primary source
    HGNC:HGNC:18726
    See related
    Ensembl:ENSG00000170448 MIM:620488; AllianceGenome:HGNC:18726
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OZFP; CDZFP; HOZFP; URCC5
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 11.1), thyroid (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NFXL1 in Genome Data Viewer
    Location:
    4p12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (47847233..47914667, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (47814565..47881968, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47849250..47916684, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene corin, serine peptidase Neighboring gene microRNA 8053 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:47719080-47719658 Neighboring gene ribosomal protein L15 pseudogene 7 Neighboring gene VISTA enhancer hs2414 Neighboring gene uncharacterized LOC101927179 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:47915468-47916154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:47916155-47916840 Neighboring gene uncharacterized LOC101927157 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:47924749-47925248 Neighboring gene cyclic nucleotide gated channel subunit alpha 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:48013506-48014020 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:48014021-48014534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:48018379-48018880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21534 Neighboring gene NIPA like domain containing 1

    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. Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. Villanueva P, et al. PLoS Genet, 2015 Mar. PMID 25781923, Free PMC Article
    2. Structure and putative function of NFX1-like proteins in plants. Müssig C, et al. Plant Biol (Stuttg), 2010 May 1. PMID 20522174
    3. Cloning and characterization of the CDZFP gene which encodes a putative zinc finger protein. Tang W, et al. DNA Seq, 2005 Oct. PMID 16323267
    4. A Chemical Proteomics Approach to Reveal Direct Protein-Protein Interactions in Living Cells. Kleiner RE, et al. Cell Chem Biol, 2018 Jan 18. PMID 29104064, Free PMC Article
    5. Aurora kinase A regulates Survivin stability through targeting FBXL7 in gastric cancer drug resistance and prognosis. Kamran M, et al. Oncogenesis, 2017 Feb 20. PMID 28218735, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We conclude that coding variants within NFXL1 confer an increased risk of Specific Language Impairment within a complex genetic model
      Title: Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CORIN

    Homology

    Clone Names

    • FLJ16294

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NF-X1-type zinc finger protein NFXL1
    Names
    cytoplasm-distribution zinc finger protein
    ovarian zinc finger protein
    up-regulated in colon cancer 5

    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.

    mRNA and Protein(s)

    1. NM_001278623.1 → NP_001265552.1  NF-X1-type zinc finger protein NFXL1

      See identical proteins and their annotated locations for NP_001265552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AB085695, AC107068
      Consensus CDS
      CCDS3478.2
      UniProtKB/Swiss-Prot
      B1Q2K1, Q6ZNB6, Q86VG1, Q8WVH1
      UniProtKB/TrEMBL
      B1Q2B0
      Related
      ENSP00000333113.4, ENST00000329043.7
      Conserved Domains (1) summary
      cd06008
      Location:414 → 462
      NF-X1-zinc-finger; Presumably a zinc binding domain, which has been shown to bind to DNA in the human nuclear transcriptional repressor NF-X1. The zinc finger can be characterized by the pattern C-X(1-6)-H-X-C-X3-C(H/C)-X(3-4)-(H/C)-X(1-10)-C. The NF-X1 zinc finger ...

    2. NM_001278624.2 → NP_001265553.1  NF-X1-type zinc finger protein NFXL1

      See identical proteins and their annotated locations for NP_001265553.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AB181916, AC107068, DA801937
      Consensus CDS
      CCDS3478.2
      UniProtKB/Swiss-Prot
      B1Q2K1, Q6ZNB6, Q86VG1, Q8WVH1
      UniProtKB/TrEMBL
      B1Q2B0
      Related
      ENSP00000422037.1, ENST00000507489.2
      Conserved Domains (1) summary
      cd06008
      Location:414 → 462
      NF-X1-zinc-finger; Presumably a zinc binding domain, which has been shown to bind to DNA in the human nuclear transcriptional repressor NF-X1. The zinc finger can be characterized by the pattern C-X(1-6)-H-X-C-X3-C(H/C)-X(3-4)-(H/C)-X(1-10)-C. The NF-X1 zinc finger ...

    3. NM_152995.6 → NP_694540.3  NF-X1-type zinc finger protein NFXL1

      See identical proteins and their annotated locations for NP_694540.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC107068, AK131285, BC040151, DB087408
      Consensus CDS
      CCDS3478.2
      UniProtKB/Swiss-Prot
      B1Q2K1, Q6ZNB6, Q86VG1, Q8WVH1
      UniProtKB/TrEMBL
      B1Q2B0
      Related
      ENSP00000370949.3, ENST00000381538.7
      Conserved Domains (1) summary
      cd06008
      Location:414 → 462
      NF-X1-zinc-finger; Presumably a zinc binding domain, which has been shown to bind to DNA in the human nuclear transcriptional repressor NF-X1. The zinc finger can be characterized by the pattern C-X(1-6)-H-X-C-X3-C(H/C)-X(3-4)-(H/C)-X(1-10)-C. The NF-X1 zinc finger ...

    RNA

    1. NR_103795.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' most exon and use an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107068, BC051193
      Related
      ENST00000464756.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      47847233..47914667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      47814565..47881968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNB6.2 GenPept UniProtKB/Swiss-Prot:Q6ZNB6

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