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RBM28 (RNA binding motif protein 28)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55131
Gene nameGene Name - the full gene name approved by the HGNC.
RNA binding motif protein 28
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RBM28
SynonymsGene synonyms aliases
ANES, NOP4
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
SummarySummary of gene provided in NCBI Entrez Gene.
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 trans
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs118204055 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs1427042125 C>A,G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1584663340 C>- Pathogenic Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023056 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT024023 hsa-miR-1-3p Proteomics 18668040
MIRT031952 hsa-miR-16-5p Proteomics 18668040
MIRT044943 hsa-miR-186-5p CLASH 23622248
MIRT724917 hsa-miR-34b-3p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005681 Component Spliceosomal complex IEA
GO:0005730 Component Nucleolus IDA
GO:0006397 Process MRNA processing IEA
GO:0008380 Process RNA splicing IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9NW13
Protein name RNA-binding protein 28 (RNA-binding motif protein 28)
Protein function Nucleolar component of the spliceosomal ribonucleoprotein complexes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1
6 74
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
Domain
PF00076 RRM_1
116 185
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
Domain
PF00076 RRM_1
337 410
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
Domain
Sequence
MAGLTLFVGRLPPSARSEQLEELFSQVGPVKQCFVVTEKGSKACRGFGYVTFSMLEDVQR
ALKEITTFEGCKIN
VTVAKKKLRNKTKEKGKNENSECPKKEPKAKKAKVADKKARLIIRN
LSFKCSEDDLKTVFAQFGAVLEVNIPRKPDGKMRGFGFVQFKNLLEAGKALKGMNMKEIK
GRTVA
VDWAVAKDKYKDTQSVSAIGEEKSHESKHQESVKKKGREEEDMEEEENDDDDDDD
DEEDGVFDDEDEEEENIESKVTKPVQIQKRAVKRPAPAKSSDHSEEDSDLEESDSIDDGE
ELAQSDTSTEEQEDKAVQVSNKKKRKLPSDVNEGKTVFIRNLSFDSEEEELGELLQQFGE
LKYVRIVLHPDTEHSKGCAFAQFMTQEAAQKCLLAASPENEAGGLKLDGR
QLKVDLAVTR
DEAAKLQTTKVKKPTGTRNLYLAREGLIRAGTKAAEGVSAADMAKRERFELLKHQKLKDQ
NIFVSRTRLCLHNLPKAVDDKQLRKLLLSATSGEKGVRIKECRVMRDLKGVHGNMKGQSL
GYAFAEFQEHEHALKALRLINNNPEIFGPLKRPIVEFSLEDRRKLKMKELRIQRSLQKMR
SKPATGEPQKGQPEPAKDQQQKAAQHHTEEQSKVPPEQKRKAGSTSWTGFQTKAEVEQVE
LPDGKKRRKVLALPSHRGPKIRLRDKGKVKPVHPKKPKPQINQWKQEKQQLSSEQVSRKK
AKGNKTETRFNQLVEQYKQKLLGPSKGAPLAKRSKWFDS
Sequence length 759
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alopecia, neurologic defects, and endocrinopathy syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome, ANE syndrome rs118204055, rs1427042125, rs1584663340 20231366, 18439547
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Isolated somatotropin deficiency Isolated somatotropin deficiency rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Lipodystrophy Lipodystrophy rs553668, rs766817317
Unknown
Disease name Disease term dbSNP ID References
Acquired kyphoscoliosis Acquired Kyphoscoliosis
Adrenocorticotropin deficient adrenal insufficiency Adrenocorticotropin deficient adrenal insufficiency
Alopecia Alopecia
Amyotrophy Generalized amyotrophy

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