RFPL1 ret finger protein like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFPL1provided by HGNC
Official Full Name: ret finger protein like 1provided by HGNC
Primary source: HGNC:HGNC:9977
See related: Ensembl:ENSG00000128250 MIM:605968; AllianceGenome:HGNC:9977
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: RNF78
Summary: Predicted to enable protein homodimerization activity; protein kinase binding activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of G2/M transition of mitotic cell cycle; negative regulation of cell division; and positive regulation of proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 3.4), testis (RPKM 1.0) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q12.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (29387909..29442455)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (29851316..29905831)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (29783898..29838444)

Chromosome 22 - NC_000022.11 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 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?

hRFPL1 antiproliferative activity led to an increased cell population in G(2)/M phase and specific cyclin B1 and Cdc2 downregulations.
Title: Primate-specific RFPL1 gene controls cell-cycle progression through cyclin B1/Cdc2 degradation.
the human RFPL1,2,3 genes have a role in neocortex development
Title: Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.

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

EBI GWAS Catalog

Description
A genome-wide association study of carotid atherosclerosis in HIV-infected men. 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

NoName (e-PCR)
- UniSTS:483358

ECD11094 (e-PCR)
- UniSTS:292130

REN76914 (e-PCR)
- UniSTS:401714

REN76915 (e-PCR)
- UniSTS:401715

REN76916 (e-PCR)
- UniSTS:401716

REN76920 (e-PCR)
- UniSTS:401720

ECD05026 (e-PCR)
- UniSTS:286094

NoName (e-PCR)
- UniSTS:481986

REN77581 (e-PCR)
- UniSTS:402381

REN77582 (e-PCR)
- UniSTS:402382

ECD11272 (e-PCR)
- UniSTS:292308

RH46208 (e-PCR)
- UniSTS:23254

REN77593 (e-PCR)
- UniSTS:402393

RH98366 (e-PCR)
- UniSTS:85491

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of G2/M transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of viral entry into host cell	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ret finger protein-like 1

Names: RING finger protein 78

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_001393612.1 → NP_001380541.1 ret finger protein-like 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC000041, AC002059

UniProtKB/TrEMBL

Q6NSX6

Conserved Domains (3) summary

cd15821
Location:93 → 270

SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4

cd16621
Location:10 → 53

vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family

pfam11002
Location:54 → 95

RDM; RFPL defining motif (RDM)
NM_021026.2 → NP_066306.2 ret finger protein-like 1 isoform 1

See identical proteins and their annotated locations for NP_066306.2

Status: VALIDATED

Source sequence(s)

AC000041, CR456562

Consensus CDS

CCDS13857.2

UniProtKB/Swiss-Prot

O75677, Q6IC06, Q9UJ97

UniProtKB/TrEMBL

Q6NSX6

Related

ENSP00000346342.2, ENST00000354373.2

Conserved Domains (3) summary

pfam11002
Location:83 → 124

RDM; RFPL defining motif (RDM)

pfam15227
Location:40 → 81

zf-C3HC4_4; zinc finger of C3HC4-type, RING

cd15821
Location:122 → 299

SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4