irf2bpl interferon regulatory factor 2 binding protein-like [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: irf2bplprovided by ZNC
Official Full Name: interferon regulatory factor 2 binding protein-likeprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1968
See related: Ensembl:ENSDARG00000004297 AllianceGenome:ZFIN:ZDB-GENE-040426-1968
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:73290; zgc:77204; wu:fc39d10; wu:fj46f11
Summary: Predicted to enable transcription corepressor activity. Acts upstream of or within negative regulation of Wnt signaling pathway and swimming behavior. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. Orthologous to human IRF2BPL (interferon regulatory factor 2 binding protein like). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 17

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (11327164..11329959, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (11173098..11175893, complement)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo variants of IRF2BPL result in developmental epileptic disorder.
Title: De novo variants of IRF2BPL result in developmental epileptic disorder.

Submit: New GeneRIF Correction

General gene information

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Markers

fc39d10.x1 (e-PCR)
- UniSTS:188112

fj46f11.x1 (e-PCR)
- UniSTS:199408

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within swimming behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: probable E3 ubiquitin-protein ligase IRF2BPL

NP_997852.1

EC 2.3.2.27

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_212687.1 → NP_997852.1 probable E3 ubiquitin-protein ligase IRF2BPL

See identical proteins and their annotated locations for NP_997852.1

Status: PROVISIONAL

Source sequence(s)

BC060929

UniProtKB/TrEMBL

Q6P947

Related

ENSDARP00000011663.5, ENSDART00000015418.7

Conserved Domains (2) summary

smart00184
Location:581 → 625

RING; Ring finger

pfam11261
Location:10 → 61

IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger