RBMS3 - RNA binding motif single stranded interacting protein 3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27303

About RBMS3

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:29,281,071-30,010,395 (from NCBI)

This gene has 20 transcripts (splice variants), 264 orthologues and 24 paralogues. Broad expression in thyroid (RPKM 7.8), fat (RPKM 6.1) and 23 other tissues.

Summary

This gene encodes an RNA-binding protein that belongs to the c-Myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and Apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) Collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

RBMS3 Products (6)

mRNA Protein Name
NM_001003792.3 NP_001003792.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 3
NM_001003793.3 NP_001003793.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 1
NM_001177711.2 NP_001171182.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 5
NM_001177712.2 NP_001171183.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 4
NM_001330696.1 NP_001317625.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 6
NM_014483.4 NP_055298.2 RNA-binding motif, single-stranded-interacting protein 3 isoform 2
Molecular Function GO Annotation Evidence References Source
enables mRNA 3'-UTR AU-rich region binding IDA
IDA: Inferred from direct assay
10675610 GOA
enables poly(A) binding IDA
IDA: Inferred from direct assay
10675610 GOA
enables poly(U) RNA binding IDA
IDA: Inferred from direct assay
10675610 GOA
Biological Process GO Annotation Evidence References Source
involved in defense response to tumor cell IMP
IMP: Inferred from mutant phenotype
28409548 GOA
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
28409548 GOA
involved in negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
28409548 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
28409548 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10675610 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBMS3 Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (63 - 123)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (142 - 206)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 437 a.a.
Protein Preferred Names Protein Names

RNA-binding motif, single-stranded-interacting protein 3

  • RNA binding motif, single stranded interacting protein

Related Diseases

Diseases Alias
Osteonecrosis Of The Jaw
Heimler Syndrome 2
  • HMLR2

  • Peroxisome Biogenesis Disorder 4c

  • Pbd4c

  • Peroxisomal Biogenesis Disorder 4c

  • Heimler Syndrome, Type 2

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
  • Foxp1 Syndrome

  • Mental Retardation With Language Impairment And With Or Without Autistic Features

  • Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

  • Intellectual Disability With Language Impairment And With Or Without Autistic Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus RBMS3 VGNC VGNC:33811
Mus musculus RBMS3 MGD MGI:2444477
Macaca mulatta RBMS3 VGNC VGNC:76474
Rattus norvegicus RBMS3 RGD RGD:1588240
Felis catus RBMS3 VGNC VGNC:64537
Canis familiaris RBMS3 VGNC VGNC:45429
Others RBMS3 NCBI