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

Gene ID: 152518, updated on 27-Nov-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 DNA-templated transcription. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 11.1), thyroid (RPKM 5.9) and 25 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (47847233..47914667, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (47814565..47881968, complement)
RS_2024_09 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 (64) 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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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

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
located_in 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_2024_08

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

Gene LinkOut

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