RBM47 RNA binding motif protein 47 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM47provided by HGNC
Official Full Name: RNA binding motif protein 47provided by HGNC
Primary source: HGNC:HGNC:30358
See related: Ensembl:ENSG00000163694 MIM:619104; AllianceGenome:HGNC:30358
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: NET18
Summary: Enables enzyme binding activity; enzyme-substrate adaptor activity; and mRNA 3'-UTR binding activity. Involved in cytidine to uridine editing; positive regulation of type I interferon-mediated signaling pathway; and regulation of mRNA metabolic process. Located in cytoplasm and nucleus. Part of apolipoprotein B mRNA editing enzyme complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in colon (RPKM 20.7), kidney (RPKM 20.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p14

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (40423280..40630852, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (40396950..40605120, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (40425297..40632611, complement)

Chromosome 4 - NC_000004.12 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?

Deubiquitinating enzyme OTUD4 stabilizes RBM47 to induce ATF3 transcription: a novel mechanism underlying the restrained malignant properties of ccRCC cells.
Title: Deubiquitinating enzyme OTUD4 stabilizes RBM47 to induce ATF3 transcription: a novel mechanism underlying the restrained malignant properties of ccRCC cells.
RNA-Binding Motif Protein RBM47 Promotes Invasiveness of Glioblastoma Through Activation of Epithelial-to-Mesenchymal Transition Program.
Title: RNA-Binding Motif Protein RBM47 Promotes Invasiveness of Glioblastoma Through Activation of Epithelial-to-Mesenchymal Transition Program.
RBM47 regulates intestinal injury and tumorigenesis by modifying proliferation, oxidative response, and inflammatory pathways.
Title: RBM47 regulates intestinal injury and tumorigenesis by modifying proliferation, oxidative response, and inflammatory pathways.
RNA binding motif 47 (RBM47): emerging roles in vertebrate development, RNA editing and cancer.
Title: RNA binding motif 47 (RBM47): emerging roles in vertebrate development, RNA editing and cancer.
The RNA-binding protein RBM47 inhibits non-small cell lung carcinoma metastasis through modulation of AXIN1 mRNA stability and Wnt/beta-catentin signaling.
Title: The RNA-binding protein RBM47 inhibits non-small cell lung carcinoma metastasis through modulation of AXIN1 mRNA stability and Wnt/β-catentin signaling.
[RNA Binding Protein RBM47 Inhibits the K562 Cell Proliferation by Regulating HMGA2 mRNA Expression].
Title: [RNA Binding Protein RBM47 Inhibits the K562 Cell Proliferation by Regulating HMGA2 mRNA Expression].
The RNA-binding protein RBM47 is a novel regulator of cell fate decisions by transcriptionally controlling the p53-p21-axis.
Title: The RNA-binding protein RBM47 is a novel regulator of cell fate decisions by transcriptionally controlling the p53-p21-axis.
The first RNA recognition motif (RRM) domain of RBM47 is critical in the regulation of alternative splicing and its recognition to pre-mRNA of TJP1. Furthermore, the TJP1-alpha- isoform enhances the assembly of actin stress fibers, thereby promoting cellular migration in a wound healing assay, providing a basis for studies related to the modulation of epithelial-to-mesenchymal transition via alternative splicing.
Title: RBM47-regulated alternative splicing of TJP1 promotes actin stress fiber assembly during epithelial-to-mesenchymal transition.
Results identified and confirmed to have downregulated gene expression of SFRP5 in sporadic nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) and CDCA7L and RBM47 in MEN1-related NFPanNETs.
Title: Distinct genome-wide methylation patterns in sporadic and hereditary nonfunctioning pancreatic neuroendocrine tumors.
miR-25 could directly target the RNA-binding motif protein 47 (RBM47). RBM47 is a promising target for the treatment of melanoma.
Title: miR-25 Promotes Melanoma Progression by regulating RNA binding motif protein 47.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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 association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. 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

RH47703 (e-PCR)
- UniSTS:28160

SHGC-111748 (e-PCR)
- UniSTS:168725

NoName (e-PCR)
- UniSTS:490300

BC013481 (e-PCR), detects polymorphism
- UniSTS:479074

RH36240 (e-PCR)
- UniSTS:77740

SHGC-67234 (e-PCR)
- UniSTS:48319

SHGC-111624 (e-PCR)
- UniSTS:168438

RH94065 (e-PCR)
- UniSTS:88569

Clone Names

FLJ20273, FLJ21344, FLJ21643, DKFZp686F02235

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cytidine to uridine editing	IDA Inferred from Direct Assay more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-10 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of apolipoprotein B mRNA editing enzyme complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RNA-binding protein 47

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_001098634.2 → NP_001092104.1 RNA-binding protein 47 isoform a

See identical proteins and their annotated locations for NP_001092104.1

Status: VALIDATED

Description

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

Source sequence(s)

AC098869, AC112717

Consensus CDS

CCDS43223.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Related

ENSP00000295971.7, ENST00000295971.12

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_001371113.1 → NP_001358042.1 RNA-binding protein 47 isoform a

Status: VALIDATED

Source sequence(s)

AC098869

Consensus CDS

CCDS43223.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Related

ENSP00000371212.2, ENST00000381793.6

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_001371114.1 → NP_001358043.1 RNA-binding protein 47 isoform c

Status: VALIDATED

Source sequence(s)

AC098869, AC112717

Consensus CDS

CCDS93492.1

UniProtKB/TrEMBL

B7Z8Z7, B7ZLP7

Related

ENSP00000423243.1, ENST00000514014.1

Conserved Domains (1) summary

TIGR01648
Location:1 → 555

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
NM_019027.4 → NP_061900.2 RNA-binding protein 47 isoform b

See identical proteins and their annotated locations for NP_061900.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AC098869, AK000280, AK025296, BM837005, BP332501, CB124502

Consensus CDS

CCDS3460.1

UniProtKB/TrEMBL

B7ZLP7

Related

ENSP00000371214.6, ENST00000381795.10

Conserved Domains (4) summary

cd12485
Location:70 → 147

RRM1_RBM47; RNA recognition motif 1 found in vertebrate RNA-binding protein 47 (RBM47)

cd12491
Location:150 → 238

RRM2_RBM47; RNA recognition motif 2 in vertebrate RNA-binding protein 47 (RBM47)

cd12497
Location:245 → 318

RRM3_RBM47; RNA recognition motif 3 in vertebrate RNA-binding protein 47 (RBM47)

TIGR01648
Location:21 → 524

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

40423280..40630852 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008310.3 → XP_016863799.1 RNA-binding protein 47 isoform X3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (4) summary

cd12485
Location:70 → 147

RRM1_RBM47; RNA recognition motif 1 found in vertebrate RNA-binding protein 47 (RBM47)

cd12491
Location:150 → 238

RRM2_RBM47; RNA recognition motif 2 in vertebrate RNA-binding protein 47 (RBM47)

cd12497
Location:245 → 318

RRM3_RBM47; RNA recognition motif 3 in vertebrate RNA-binding protein 47 (RBM47)

TIGR01648
Location:21 → 524

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_017008309.3 → XP_016863798.1 RNA-binding protein 47 isoform X2

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (4) summary

cd12485
Location:70 → 147

RRM1_RBM47; RNA recognition motif 1 found in vertebrate RNA-binding protein 47 (RBM47)

cd12491
Location:150 → 238

RRM2_RBM47; RNA recognition motif 2 in vertebrate RNA-binding protein 47 (RBM47)

cd12497
Location:245 → 318

RRM3_RBM47; RNA recognition motif 3 in vertebrate RNA-binding protein 47 (RBM47)

TIGR01648
Location:21 → 592

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_005248103.5 → XP_005248160.1 RNA-binding protein 47 isoform X1

See identical proteins and their annotated locations for XP_005248160.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_047415818.1 → XP_047271774.1 RNA-binding protein 47 isoform X3
XM_047415805.1 → XP_047271761.1 RNA-binding protein 47 isoform X2
XM_047415797.1 → XP_047271753.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3
XM_011513707.3 → XP_011512009.1 RNA-binding protein 47 isoform X1

See identical proteins and their annotated locations for XP_011512009.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_047415804.1 → XP_047271760.1 RNA-binding protein 47 isoform X2
XM_047415796.1 → XP_047271752.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3
XM_047415808.1 → XP_047271764.1 RNA-binding protein 47 isoform X2
XM_047415798.1 → XP_047271754.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3
XM_047415816.1 → XP_047271772.1 RNA-binding protein 47 isoform X2
XM_047415822.1 → XP_047271778.1 RNA-binding protein 47 isoform X3
XM_047415819.1 → XP_047271775.1 RNA-binding protein 47 isoform X3
XM_047415807.1 → XP_047271763.1 RNA-binding protein 47 isoform X2
XM_011513708.3 → XP_011512010.1 RNA-binding protein 47 isoform X1

See identical proteins and their annotated locations for XP_011512010.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_047415824.1 → XP_047271780.1 RNA-binding protein 47 isoform X3
XM_047415814.1 → XP_047271770.1 RNA-binding protein 47 isoform X2
XM_017008308.2 → XP_016863797.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_047415817.1 → XP_047271773.1 RNA-binding protein 47 isoform X3
XM_047415803.1 → XP_047271759.1 RNA-binding protein 47 isoform X2
XM_047415820.1 → XP_047271776.1 RNA-binding protein 47 isoform X3
XM_047415810.1 → XP_047271766.1 RNA-binding protein 47 isoform X2
XM_047415800.1 → XP_047271756.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3
XM_047415811.1 → XP_047271767.1 RNA-binding protein 47 isoform X2
XM_047415801.1 → XP_047271757.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3
XM_047415802.1 → XP_047271758.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3
XM_047415821.1 → XP_047271777.1 RNA-binding protein 47 isoform X3
XM_047415809.1 → XP_047271765.1 RNA-binding protein 47 isoform X2
XM_017008304.3 → XP_016863793.1 RNA-binding protein 47 isoform X1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_047415812.1 → XP_047271768.1 RNA-binding protein 47 isoform X2
XM_005248108.5 → XP_005248165.1 RNA-binding protein 47 isoform X1

See identical proteins and their annotated locations for XP_005248165.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
XM_047415823.1 → XP_047271779.1 RNA-binding protein 47 isoform X3
XM_047415813.1 → XP_047271769.1 RNA-binding protein 47 isoform X2
XM_047415815.1 → XP_047271771.1 RNA-binding protein 47 isoform X2
XM_005248109.5 → XP_005248166.1 RNA-binding protein 47 isoform X1

See identical proteins and their annotated locations for XP_005248166.1

UniProtKB/Swiss-Prot

A0AV96, A0PJK2, B5MED4, Q8NI52, Q8NI53, Q9NXG3

UniProtKB/TrEMBL

B7ZLP7

Conserved Domains (1) summary

TIGR01648
Location:21 → 593

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family