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FLASH GENE

Symbol

RBM5

contributors: mct - updated : 30-10-2017

HGNC name	RNA binding motif protein 5
HGNC id	9902

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	30.10 kb     25 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	see SEMA3F

regionally located

located in a region duplicated from the Xp11.3-p11.23 region, containing UBE1 and DXS8237E, in the TSG3B region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005778 25 - 3177 NP_005769 - 815 - 2020 32450081

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly   mouth       highly Lymphoid/Immune spleen       highly   thymus       highly Nervous brain       highly Homo sapiens Reproductive male system         Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatid Mus musculus Reproductive spermatocyte Mus musculus Reproductive spermatogonia Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal region, with two RNA binding motifs (RNP1) flanking a C2C2 zinc finger motif
	two RRM motif (RNA recognition motif) and the second RRM of RBM5 is pivotal for appropriate pre-mRNA splicing
	in the C terminal region, a C2H2 zinc finger motif and a bipartite nuclear localization signal (NLS)

HOMOLOGY

intraspecies	homolog to DXS8237E
	paralog to RBM10

Homologene

FAMILY

CATEGORY

DNA associated , RNA associated , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in the control of apoptosis
	may mediate apoptosis in a TP53-independent manner, acting as a post-transcriptional regulator for cell cycle/apoptotic-related proteins
	nuclear SR-related RNA binding protein with the ability to modulate both apoptosis and the cell cycle, and retard tumour formation
	regulates CASP2 alternative splicing and promotes the formation of proapoptotic CASP-2L isoform
	having a role as an apoptosis regulator in cancer cells
	functions as an alternative splicing regulator of apoptosis-related genes
	is an essential regulator of haploid male germ cell pre-mRNA splicing and fertility
	critical role for RBM5 as a pre-mRNA splicing regulator in round spermatids and male fertility
	RNA binding activity of RBM5 contributes to its function on apoptosis induction and cell growth inhibition
	nuclear protein that modulates gene transcription and mRNA splicing in cancer cells
	may function as a tumor suppressor in medulloblastoma (MB) by regulating Wnt/CTNNB1 signaling

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

binding

small molecule

protein	binds to CASP2 pre-mRNA
	tumor suppressor gene that has been shown to function in cell growth inhibition by modulating apoptosis, and also plays a critical role in alternative splicing as an RNA binding protein
	RBM5, a close homologue of RBM10, regulates alternative splicing of apoptosis-related genes, FAS and CFLAR
	autoregulation of RBM10 and cross-regulation of RBM10/RBM5 via alternative splicing-coupled nonsense-mediated decay
	RBM5 regulates likely RAB4A in neurons
	RBM5 expression level was negatively related to the PCAT1 expression level in pancreatic cancer tissues
	regulates alternative splicing of apoptotic genes including the cell death receptor FAS and the initiator CASP2

cell & other

REGULATION

Other

regulated by reversible phosphorylation (mechanism capable of regulating RBM5 participation in modulating apoptosis, and perhaps tumour suppression)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in lung cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer lung   RBM5-enhanced autophagy acts in a cytoprotective way and inhibition of autophagy may improve the anti-tumor efficacy of RBM5 in lung cancer cancer digestive pancreas PCAT1 acts as an oncogene in pancreatic cancer and promotes cell metastasis via inhibiting RBM5, which might be a novel therapeutic strategy in pancreatic cancer

ANIMAL & CELL MODELS

mice carrying a missense mutation (R263P) in the second RNA recognition motif (RRM) of RBM5 exhibited spermatid differentiation arrest, germ cell sloughing and apoptosis, which ultimately led to azoospermia (no sperm in the ejaculate) and male sterility