RBM28 RNA binding motif protein 28 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM28provided by HGNC
Official Full Name: RNA binding motif protein 28provided by HGNC
Primary source: HGNC:HGNC:21863
See related: Ensembl:ENSG00000106344 MIM:612074; AllianceGenome:HGNC:21863
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: ANES; NOP4
Summary: The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128297685..128343908, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (129609469..129655695, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (127937738..127983962, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53.
Title: RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53.
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
Title: Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
The authors conclude that the ANE syndrome mutation generates defective RBM28 protein folding which abrogates protein-protein interactions and causes faulty pre-large subunit rRNA processing, thus revealing one aspect of the molecular basis of this human disease.
Title: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.
RBM28 controls the expression of miR-203. RBM28 contributes to hair follicle growth regulation through modulation of miR-203 and p63 activity.
Title: RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.
RBM28 gene defects should be added to the growing list of gene defects associated with syndromic combined anterior pituitary hormone deficiency.
Title: ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome).
Title: Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus
Title: Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs.

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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

Associated conditions

Description	Tests
ANE syndrome MedGen: C2677535 OMIM: 612079 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human RNA binding motif protein 28 (RBM28) at amino acid residues 648-649 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: RNA-binding protein 28

Names: 2810480G15Rik

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.

Genomic

NG_015802.2 RefSeqGene

Range

5000..51223

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166135.2 → NP_001159607.1 RNA-binding protein 28 isoform 2

Status: REVIEWED

Source sequence(s)

AC010655, AC018635

Consensus CDS

CCDS55159.1

UniProtKB/Swiss-Prot

Q9NW13

Related

ENSP00000390517.2, ENST00000415472.6

Conserved Domains (5) summary

TIGR01628
Location:187 → 580

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

COG0724
Location:133 → 276

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12415
Location:194 → 276

RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins

cd12416
Location:346 → 440

RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins

cl17169
Location:5 → 42

RRM_SF; RNA recognition motif (RRM) superfamily
NM_018077.3 → NP_060547.2 RNA-binding protein 28 isoform 1

See identical proteins and their annotated locations for NP_060547.2

Status: REVIEWED

Source sequence(s)

AC010655, AC018635

Consensus CDS

CCDS5801.1

UniProtKB/Swiss-Prot

A4D100, B4DU52, E9PDD9, Q53H65, Q96CV3, Q9NW13

UniProtKB/TrEMBL

A0A024R753

Related

ENSP00000223073.1, ENST00000223073.6

Conserved Domains (5) summary

cd12413
Location:5 → 81

RRM1_RBM28_like; RNA recognition motif 1 in RNA-binding protein 28 (RBM28) and similar proteins

cd12414
Location:115 → 190

RRM2_RBM28_like; RNA recognition motif 2 in RNA-binding protein 28 (RBM28) and similar proteins

cd12415
Location:335 → 417

RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins

cd12416
Location:487 → 581

RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins

cl25887
Location:126 → 721

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

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_000007.14 Reference GRCh38.p14 Primary Assembly

Range

128297685..128343908 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

129609469..129655695 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_175880.2: Suppressed sequence

Description

NM_175880.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
NR_046216.1: Suppressed sequence

Description

NR_046216.1: This RefSeq was removed because the gene was discontinued.