RYBP RING1 and YY1 binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: RYBPprovided by HGNC
Official Full Name: RING1 and YY1 binding proteinprovided by HGNC
Primary source: HGNC:HGNC:10480
See related: Ensembl:ENSG00000163602 MIM:607535; AllianceGenome:HGNC:10480
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: AAP1; DEDAF; YEAF1; APAP-1
Summary: Predicted to enable DNA binding activity and transcription coregulator activity. Involved in several processes, including histone H2A monoubiquitination; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of transcription, DNA-templated. Located in nucleoplasm. Colocalizes with PcG protein complex. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: suggests misassembly; Annotation category: partial on reference assembly
Expression: Ubiquitous expression in placenta (RPKM 20.7), testis (RPKM 18.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (72374597..72446623, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (72416169..72500475, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (72423744..72495774, complement)

Chromosome 3 - NC_000003.12 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
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?

Deficiency of the Polycomb Protein RYBP and TET Methylcytosine Oxidases Promotes Extensive CpG Island Hypermethylation and Malignant Transformation.
Title: Deficiency of the Polycomb Protein RYBP and TET Methylcytosine Oxidases Promotes Extensive CpG Island Hypermethylation and Malignant Transformation.
Re-expression of circ_0043610 contributes to trophoblast dysfunction through the miR-558/RYBP pathway in preeclampsia.
Title: Re-expression of circ_0043610 contributes to trophoblast dysfunction through the miR-558/RYBP pathway in preeclampsia.
RYBP Sensitizes Cancer Cells to PARP Inhibitors by Regulating ATM Activity.
Title: RYBP Sensitizes Cancer Cells to PARP Inhibitors by Regulating ATM Activity.
The nuclear localization sequence of the epigenetic factor RYBP binds to human importin alpha3.
Title: The nuclear localization sequence of the epigenetic factor RYBP binds to human importin α3.
Upregulated miR4115p levels promote lymph node metastasis by targeting RYBP in head and neck squamous cell carcinoma.
Title: Upregulated miR‑411‑5p levels promote lymph node metastasis by targeting RYBP in head and neck squamous cell carcinoma.
RYBP suppresses esophageal squamous cell carcinoma proliferation by downregulating CDC6 and CDC45, thus inhibiting the G1-S transition
Title: RYBP inhibits esophageal squamous cell carcinoma proliferation through downregulating CDC6 and CDC45 in G1-S phase transition process.
the up-regulated expression of miR-769-5p contributed to Hepatocellular carcinoma progression possibly by targeting RYBP.
Title: MicroRNA-769-5p contributes to the proliferation, migration and invasion of hepatocellular carcinoma cells by attenuating RYBP.
ETS1 up-regulates human RYBP expression at transcriptional level. ETS1 binds to RYBP promoter region through a multiple of conserved ETS1 binding sites in RYBP promoter region. RYBP is required for ETS1-induced human tumor cell growth inhibition.
Title: ETS1 targets RYBP transcription to inhibit tumor cell proliferation.
Mechanistic dissection further disclosed that RYBP directly binds to ubiquitin protein ligase E3A (UBE3A) to promote its ubiquitination and proteasomal degradation in an autoubiquitination-independent manner
Title: RYBP modulates stability and function of Ring1B through targeting UBE3A.
RYBP expression level in tumor tissues was applied to predict the prognosis of hepatocellular carcinoma patients more accurately
Title: [Clinical significance of RYBP expression in primary hepatocellular carcinoma].

Submit: New GeneRIF Correction See all GeneRIFs (27)

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
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
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

Cda10b05 (e-PCR)
- UniSTS:49666

SGC34284 (e-PCR)
- UniSTS:59418

RH16326 (e-PCR)
- UniSTS:58652

SHGC-77078 (e-PCR)
- UniSTS:81182

SHGC-52585 (e-PCR)
- UniSTS:65128

HSC10B052 (e-PCR)
- UniSTS:81514

RH119434 (e-PCR)
- UniSTS:132975

G19717 (e-PCR)
- UniSTS:60274

A001W26 (e-PCR)
- UniSTS:60275

STS-AA027856 (e-PCR)
- UniSTS:60066

SGC33951 (e-PCR)
- UniSTS:20666

WI-11804 (e-PCR)
- UniSTS:70615

SHGC-36192 (e-PCR)
- UniSTS:73708

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	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 positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of PcG protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RING1 and YY1-binding protein

Names: DED-associated factor; YY1 and E4TF1 associated factor 1; apoptin-associating protein 1; death effector domain-associated factor; ring1 interactor RYBP

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_012234.7 → NP_036366.3 RING1 and YY1-binding protein

See identical proteins and their annotated locations for NP_036366.3

Status: VALIDATED

Source sequence(s)

AC255560

UniProtKB/Swiss-Prot

Q8N488, Q9P2W5, Q9UMW4

Related

ENSP00000419494.4, ENST00000477973.5

Conserved Domains (3) summary

sd00029
Location:25 → 44

zf-RanBP2; RanBP2-type Zn finger [structural motif]

pfam00641
Location:22 → 45

zf-RanBP; Zn-finger in Ran binding protein and others

pfam17219
Location:145 → 176

YAF2_RYBP; Yaf2/RYBP C-terminal binding motif