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

Gene ID: 84991, updated on 11-Apr-2024

Summary

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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
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Genomic context

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Location:
10p15.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (6089034..6117447)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (6089199..6117608)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (6130997..6159410)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2095 Neighboring gene interleukin 2 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2949 Neighboring gene CRISPRi-FlowFISH-validated IL2RA regulatory element GRCh37_chr10:6094489-6094989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2950 Neighboring gene CRISPRi-FlowFISH-validated IL2RA regulatory element GRCh37_chr10:6104083-6104713 Neighboring gene MPRA-validated peak860 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2951 Neighboring gene CRISPRi-FlowFISH-validated IL2RA regulatory element GRCh37_chr10:6125624-6126124 Neighboring gene ribosomal protein L32 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6131655-6132493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6138283-6138782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6137781-6138282 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6138886-6139486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6149773-6150468 Neighboring gene MPRA-validated peak861 silencer Neighboring gene uncharacterized LOC101928080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6176097-6176645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6176646-6177193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2957 Neighboring gene uncharacterized LOC124902369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2958 Neighboring gene CRISPRi-FlowFISH-validated PFKFB3 regulatory elements GRCh37_chr10:6186610-6187110 and GRCh37_chr10:6186666-6187166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2960 Neighboring gene RN7SK pseudogene 78 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors. Liu L, et al. Nat Commun, 2022 Jul 4. PMID 35781533, Free PMC Article
  2. SPF45/RBM17-dependent, but not U2AF-dependent, splicing in a distinct subset of human short introns. Fukumura K, et al. Nat Commun, 2021 Aug 13. PMID 34389706, Free PMC Article
  3. A 5'-tRNA halve, tiRNA-Gly promotes cell proliferation and migration via binding to RBM17 and inducing alternative splicing in papillary thyroid cancer. Han L, et al. J Exp Clin Cancer Res, 2021 Jul 5. PMID 34225773, Free PMC Article
  4. Exploration of the effects of the CYCLOPS gene RBM17 in hepatocellular carcinoma. Li C, et al. PLoS One, 2020. PMID 32497093, Free PMC Article
  5. RBM17 controls apoptosis and proliferation to promote Glioma progression. Lu J, et al. Biochem Biophys Res Commun, 2018 Oct 20. PMID 30227940

See all (118) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

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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
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC14439, DKFZp686F13131

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
  

General protein information

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Preferred Names
splicing factor 45
Names
45 kDa-splicing factor
splicing factor 45kDa

NCBI Reference Sequences (RefSeq)

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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)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    6089034..6117447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    6089199..6117608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96I25.1 GenPept UniProtKB/Swiss-Prot:Q96I25

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