RBL1 RB transcriptional corepressor like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBL1provided by HGNC
Official Full Name: RB transcriptional corepressor like 1provided by HGNC
Primary source: HGNC:HGNC:9893
See related: Ensembl:ENSG00000080839 MIM:116957; AllianceGenome:HGNC:9893
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRB1; p107; CP107
Summary: The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 3.5), bone marrow (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (36996349..37095997, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (38720692..38820363, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (35624752..35724400, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
Title: Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
PP2A/B55alpha substrate recruitment as defined by the retinoblastoma-related protein p107.
Title: PP2A/B55α substrate recruitment as defined by the retinoblastoma-related protein p107.
Study found that the methylation of global DNA decreased gradually after irradiation, and the methylation of the promoter of RBL1 gene may play an important role in the induction of radioresistance for three dimensional cultured carcinoma cells.
Title: Methylation of promoter of RBL1 enhances the radioresistance of three dimensional cultured carcinoma cells.
These findings in human skeletal muscle suggest that attenuated transcriptional repression through p107 may be a novel mechanism by which exercise stimulates mitochondrial biogenesis following exercise.
Title: Decreased transcriptional corepressor p107 is associated with exercise-induced mitochondrial biogenesis in human skeletal muscle.
The authors found that phosphorylation of residues S650 and S975 in p107 weakens the E2F4 transactivation domain binding.
Title: Structural Conservation and E2F Binding Specificity within the Retinoblastoma Pocket Protein Family.
UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins
Title: Human cytomegalovirus-encoded viral cyclin-dependent kinase (v-CDK) UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins.
Sequence analysis of the RB1 gene detected a novel mutation in bilateral retinoblastoma.
Title: A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening.
MAGE-A11 is a proto-oncogene whose increased expression in prostate cancer reverses retinoblastoma-related protein p107 from a transcriptional repressor to a transcriptional activator of the androgen receptor and E2F1.
Title: Proto-oncogene activity of melanoma antigen-A11 (MAGE-A11) regulates retinoblastoma-related p107 and E2F1 proteins.
Single nucleotide polymorphism in the ultraconserved elements of RBL1 gene is associated with recurrence in colorectal adenocarcinoma.
Title: Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma.
Concomitant germline large cytogenetic 13q deletion and somatic mutations in the RB1 gene in unilateral retinoblastoma.
Title: A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

D11S2560 (e-PCR)
- UniSTS:37928

RH17622 (e-PCR)
- UniSTS:83250

SGC35236 (e-PCR)
- UniSTS:19322

PMC152552P1 (e-PCR)
- UniSTS:271230

PMC126057P1 (e-PCR)
- UniSTS:270522

STS-H85528 (e-PCR)
- UniSTS:45007

D20S823 (e-PCR)
- UniSTS:72666

stdJ621N11SP6 (e-PCR)
- UniSTS:181743

G15936 (e-PCR)
- UniSTS:75504

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation 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 negative regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid kinase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: retinoblastoma-like protein 1

Names: 107 kDa retinoblastoma-associated protein; retinoblastoma-like 1

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_001323281.2 → NP_001310210.1 retinoblastoma-like protein 1 isoform c

Status: REVIEWED

Source sequence(s)

AL136172, AL365505, AL391114, BQ004524

Conserved Domains (3) summary

pfam01857
Location:360 → 515

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:1 → 151

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:534 → 619

Rb_C; Rb C-terminal domain
NM_001323282.2 → NP_001310211.1 retinoblastoma-like protein 1 isoform c

Status: REVIEWED

Source sequence(s)

AL136172, AL365505, AL391114, BQ004524

Conserved Domains (3) summary

pfam01857
Location:360 → 515

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:1 → 151

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:534 → 619

Rb_C; Rb C-terminal domain
NM_002895.5 → NP_002886.2 retinoblastoma-like protein 1 isoform a

See identical proteins and their annotated locations for NP_002886.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK290380, AL365505, BQ004524, DC375054

Consensus CDS

CCDS13289.1

UniProtKB/Swiss-Prot

A8K2W5, P28749, Q4VXA0, Q8N5K6, Q9H1L5, Q9H1M1

Related

ENSP00000362768.3, ENST00000373664.8

Conserved Domains (4) summary

pfam01857
Location:787 → 942

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:385 → 578

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:961 → 1046

Rb_C; Rb C-terminal domain

pfam11934
Location:77 → 209

DUF3452; Domain of unknown function (DUF3452)
NM_183404.4 → NP_899662.1 retinoblastoma-like protein 1 isoform b

See identical proteins and their annotated locations for NP_899662.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

BC032247, DC375054

Consensus CDS

CCDS13290.1

UniProtKB/Swiss-Prot

P28749

Related

ENSP00000343646.3, ENST00000344359.7

Conserved Domains (4) summary

pfam01857
Location:787 → 942

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:385 → 578

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:961 → 1003

Rb_C; Rb C-terminal domain

pfam11934
Location:77 → 209

DUF3452; Domain of unknown function (DUF3452)