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

Summary

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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)

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 ...
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 ...
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

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