rb1 retinoblastoma 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: rb1provided by ZNC
Official Full Name: retinoblastoma 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-040428-1
See related: Ensembl:ENSDARG00000006782 AllianceGenome:ZFIN:ZDB-GENE-040428-1
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:154147
Summary: Predicted to enable RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of with a negative effect on activation of cysteine-type endopeptidase activity involved in apoptotic process. Acts upstream of or within optic nerve development; retinal ganglion cell axon guidance; and visual perception. Predicted to be located in chromatin. Predicted to be part of Rb-E2F complex. Is expressed in brain; oocyte stage I; retina; and testis. Used to study cancer. Human ortholog(s) of this gene implicated in several diseases, including high grade glioma (multiple); osteosarcoma; prostate cancer; retinoblastoma (multiple); and small cell carcinoma. Orthologous to human RB1 (RB transcriptional corepressor 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (22960739..23017275, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (22924134..22980670, complement)

Chromosome 21 - NC_007132.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A role for Retinoblastoma 1 in hindbrain morphogenesis by regulating GBX family.
Title: A role for Retinoblastoma 1 in hindbrain morphogenesis by regulating GBX family.
data indicate that the Rb1-E2F1-caspase axis is crucial for protecting immature T cells from apoptosis during early T lymphocyte maturation.
Title: Retinoblastoma 1 protects T cell maturation from premature apoptosis by inhibiting E2F1.
Our results indicate that Rb-Raf-1 interaction plays an important role in spontaneous hair cell regeneration in zebrafish
Title: Disrupting Rb-Raf-1 interaction inhibits hair cell regeneration in zebrafish lateral line neuromasts.
our analysis of zebrafish rb1 mutants reveals a previously unknown yet critical role for rb1 during retinotectal tract development and visual function.
Title: The tumor suppressor gene retinoblastoma-1 is required for retinotectal development and visual function in zebrafish.
Zebrafish usp39 regulates embryonic pituitary homeostasis by targeting rb1 and e2f4 expression, respectively, contributing to increased adenohypophyseal sensitivity to these altered cell cycle regulators
Title: Zebrafish usp39 mutation leads to rb1 mRNA splicing defect and pituitary lineage expansion.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cell maturation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell morphogenesis involved in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within optic nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect positive regulation of cysteine-type endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_negative_effect positive regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retinal ganglion cell axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Rb-E2F complex	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	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: retinoblastoma-associated protein

Names: spc

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_001077780.1 → NP_001071248.1 retinoblastoma-associated protein

See identical proteins and their annotated locations for NP_001071248.1

Status: PROVISIONAL

Source sequence(s)

BC125966

UniProtKB/TrEMBL

A0JMQ4

Related

ENSDARP00000021737.8, ENSDART00000024309.10

Conserved Domains (4) summary

pfam01857
Location:630 → 747

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:359 → 569

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:752 → 899

Rb_C; Rb C-terminal domain

pfam11934
Location:99 → 211

DUF3452; Domain of unknown function (DUF3452)