Format

Send to:

Choose Destination

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

Gene ID: 55131, updated on 9-Dec-2018

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
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
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

Genomic context

See RBM28 in Genome Data Viewer
Location:
7q32.1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (128304173..128343915, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127950429..127983962, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375494 Neighboring gene LEP 5' regulatory region Neighboring gene leptin Neighboring gene uncharacterized protein MGC27345 Neighboring gene aurora kinase A pseudogene Neighboring gene RNA, U7 small nuclear 27 pseudogene Neighboring gene proline rich transmembrane protein 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
    Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
  • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
    Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10377

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spliceosomal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RNA-binding protein 28
Names
2810480G15Rik

NCBI Reference Sequences (RefSeq)

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

  1. NG_015802.1 RefSeqGene

    Range
    5001..38527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks four exons in the 5' coding region, as compared to variant 1. The reading frame is not changed, but the resulting isoform (2) has lost part of the RRMs 1 and 2, as compared to isoform 1.
    Source sequence(s)
    AK001239, AK300500, BC013889, BU609187
    Consensus CDS
    CCDS55159.1
    UniProtKB/Swiss-Prot
    Q9NW13
    Related
    ENSP00000390517.2, ENST00000415472.6
    Conserved Domains (5) summary
    TIGR01628
    Location:187580
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    COG0724
    Location:133276
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12415
    Location:194276
    RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12416
    Location:346440
    RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins
    cl17169
    Location:542
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. NM_018077.2NP_060547.2  RNA-binding protein 28 isoform 1

    See identical proteins and their annotated locations for NP_060547.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1), which includes four RRMs (RNA recognition motifs), also known as RBDs (RNA binding domains), and an extremely acidic region between RRMs 2 and 3.
    Source sequence(s)
    BC013889, BU609187, DA566130
    Consensus CDS
    CCDS5801.1
    UniProtKB/Swiss-Prot
    Q9NW13
    UniProtKB/TrEMBL
    A0A024R753
    Related
    ENSP00000223073.1, ENST00000223073.6
    Conserved Domains (5) summary
    cd12413
    Location:581
    RRM1_RBM28_like; RNA recognition motif 1 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12414
    Location:115190
    RRM2_RBM28_like; RNA recognition motif 2 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12415
    Location:335417
    RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12416
    Location:487581
    RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins
    cl25887
    Location:126721
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    128304173..128343915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012389.1XP_016867878.1  RNA-binding protein 28 isoform X2

  2. XM_017012390.1XP_016867879.1  RNA-binding protein 28 isoform X3

  3. XM_011516370.3XP_011514672.1  RNA-binding protein 28 isoform X1

    Conserved Domains (6) summary
    TIGR01628
    Location:362755
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    COG0724
    Location:308451
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12413
    Location:5115
    RRM1_RBM28_like; RNA recognition motif 1 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12414
    Location:149224
    RRM2_RBM28_like; RNA recognition motif 2 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12415
    Location:369451
    RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12416
    Location:521615
    RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins

RNA

  1. XR_001744830.1 RNA Sequence

Support Center