RBM17 RNA binding motif protein 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM17provided by HGNC
Official Full Name: RNA binding motif protein 17provided by HGNC
Primary source: HGNC:HGNC:16944
See related: Ensembl:ENSG00000134453 MIM:606935; AllianceGenome:HGNC:16944
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: SPF45
Summary: This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]
Expression: Ubiquitous expression in bone marrow (RPKM 17.7), lymph node (RPKM 15.8) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10p15.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (6089034..6117447)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (6089199..6117608)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (6130997..6159410)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns.
Title: SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns.
AKT1 phosphorylates RBM17 to promote Sox2 transcription by modulating alternative splicing of FOXM1 to enhance cancer stem cell properties in colorectal cancer cells.
Title: AKT1 phosphorylates RBM17 to promote Sox2 transcription by modulating alternative splicing of FOXM1 to enhance cancer stem cell properties in colorectal cancer cells.
The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors.
Title: The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors.
A 5'-tRNA halve, tiRNA-Gly promotes cell proliferation and migration via binding to RBM17 and inducing alternative splicing in papillary thyroid cancer.
Title: A 5'-tRNA halve, tiRNA-Gly promotes cell proliferation and migration via binding to RBM17 and inducing alternative splicing in papillary thyroid cancer.
SPF45/RBM17-dependent, but not U2AF-dependent, splicing in a distinct subset of human short introns.
Title: SPF45/RBM17-dependent, but not U2AF-dependent, splicing in a distinct subset of human short introns.
Exploration of the effects of the CYCLOPS gene RBM17 in hepatocellular carcinoma.
Title: Exploration of the effects of the CYCLOPS gene RBM17 in hepatocellular carcinoma.
Also our presented results indicate that splicing factors hnRNP A1 and SPF45, previously shown to regulate Fas alternative splicing in normoxic cells, are not involved in hypoxia dependent alternative Fas pre-mRNA splicing regulation in an amount dependent manner. Our observations on hypoxia dependent alternative Fas pre-mRNA splicing regulation indicate a probable involvement of other, yet unidentified splicing factors.
Title: Hypoxia alters splicing of the cancer associated Fas gene.
Data show that RNA binding motif protein 17 (RBM17) overexpressed in glioma patients and resulted in the poor prognosis.
Title: RBM17 controls apoptosis and proliferation to promote Glioma progression.
this work provides the structural and molecular basis of the interaction between RBM17 and the phosphorylated form of ATXN1.
Title: Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxin-1 and RBM17.
identify SPF45 as the first splicing factor regulated by multiple MAP kinase pathways and show effects of both SPF45 overexpression and phosphorylation
Title: Mitogen-activated protein kinase phosphorylation of splicing factor 45 (SPF45) regulates SPF45 alternative splicing site utilization, proliferation, and cell adhesion.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
Knockdown of RNA binding motif protein 17 (RBM17) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag is identified to have a physical interaction with RNA binding motif protein 17 (RBM17; SPF45) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D10S1520 (e-PCR)
- UniSTS:153624

STS-H58939 (e-PCR)
- UniSTS:39983

G32453 (e-PCR)
- UniSTS:117039

RH80691 (e-PCR)
- UniSTS:88925

STS-R99346 (e-PCR)
- UniSTS:65406

RH122660 (e-PCR)
- UniSTS:135105

RH11159 (e-PCR)
- UniSTS:65757

WI-20510 (e-PCR)
- UniSTS:65758

A009D35 (e-PCR)
- UniSTS:22760

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA cis splicing, via spliceosome	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: splicing factor 45

Names: 45 kDa-splicing factor; splicing factor 45kDa

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001145547.2 → NP_001139019.1 splicing factor 45

See identical proteins and their annotated locations for NP_001139019.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA905075, AF542550, AL157395, BC039322, CN291330

Consensus CDS

CCDS7077.1

UniProtKB/Swiss-Prot

Q96GY6, Q96I25

UniProtKB/TrEMBL

Q5W009

Related

ENSP00000388638.1, ENST00000446108.5

Conserved Domains (2) summary

pfam01585
Location:235 → 279

G-patch; G-patch domain

cd12647
Location:303 → 397

RRM_UHM_SPF45; RNA recognition motif (RRM) found in UHM domain of 45 kDa-splicing factor (SPF45) and similar proteins
NM_032905.5 → NP_116294.1 splicing factor 45

See identical proteins and their annotated locations for NP_116294.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA905075, AF542550, AL157395, CN291330, CV570433

Consensus CDS

CCDS7077.1

UniProtKB/Swiss-Prot

Q96GY6, Q96I25

UniProtKB/TrEMBL

Q5W009

Related

ENSP00000369218.4, ENST00000379888.9

Conserved Domains (2) summary

pfam01585
Location:235 → 279

G-patch; G-patch domain

cd12647
Location:303 → 397

RRM_UHM_SPF45; RNA recognition motif (RRM) found in UHM domain of 45 kDa-splicing factor (SPF45) and similar proteins