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RBMS1 RNA binding motif single stranded interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 5937, updated on 3-Apr-2024

Summary

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Official Symbol
RBMS1provided by HGNC
Official Full Name
RNA binding motif single stranded interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:9907
See related
Ensembl:ENSG00000153250 MIM:602310; AllianceGenome:HGNC:9907
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
YC1; MSSP; SCR2; HCC-4; MSSP-1; MSSP-2; MSSP-3; C2orf12
Summary
This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. 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. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in placenta (RPKM 34.9), endometrium (RPKM 27.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
2q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (160272151..160493807, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (160729618..160951341, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (161128662..161350318, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:160982362-160982960 Neighboring gene integrin subunit beta 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161037195-161037767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161037768-161038339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16701 Neighboring gene ITGB6-RBMS1 intergenic CAGE-defined low expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:161126614-161127223 Neighboring gene long intergenic non-protein coding RNA 2478 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12048 Neighboring gene NANOG hESC enhancer GRCh37_chr2:161274181-161274715 Neighboring gene centromere protein L pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161295775-161296348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161296349-161296920 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:161305591-161306398 Neighboring gene microRNA 4785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:161333289-161333788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:161349859-161350379 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:161350566-161350745 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54109 Neighboring gene uncharacterized LOC105373718 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54167 Neighboring gene uncharacterized LOC124907902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161712407-161713014 Neighboring gene RNA, 7SL, cytoplasmic 423, pseudogene

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. Circular RNA Rbms1 inhibited the development of myocardial ischemia reperfusion injury by regulating miR-92a/BCL2L11 signaling pathway. Jin L, et al. Bioengineered, 2022 Feb. PMID 35068339, Free PMC Article
  2. Hinge like domain motion facilitates human RBMS1 protein binding to proto-oncogene c-myc promoter. Aggarwal P, et al. Nucleic Acids Res, 2021 Jun 4. PMID 33999211, Free PMC Article
  3. Loss of RBMS1 as a regulatory target of miR-106b influences cell growth, gap closing and colony forming in prostate carcinoma. Dankert JT, et al. Sci Rep, 2020 Oct 22. PMID 33093529, Free PMC Article
  4. RBMS1 Suppresses Colon Cancer Metastasis through Targeted Stabilization of Its mRNA Regulon. Yu J, et al. Cancer Discov, 2020 Sep. PMID 32513775, Free PMC Article
  5. RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11. Zhang W, et al. J Clin Invest, 2021 Nov 15. PMID 34609966, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Polymorphisms in risk genes of type 2 diabetes mellitus could be also markers of susceptibility to periodontitis.
    Title: Polymorphisms in risk genes of type 2 diabetes mellitus could be also markers of susceptibility to periodontitis.
  2. Circular RNA Rbms1 inhibited the development of myocardial ischemia reperfusion injury by regulating miR-92a/BCL2L11 signaling pathway.
    Title: Circular RNA Rbms1 inhibited the development of myocardial ischemia reperfusion injury by regulating miR-92a/BCL2L11 signaling pathway.
  3. RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11.
    Title: RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11.
  4. RBMS1 Suppresses Colon Cancer Metastasis through Targeted Stabilization of Its mRNA Regulon.
    Title: RBMS1 Suppresses Colon Cancer Metastasis through Targeted Stabilization of Its mRNA Regulon.
  5. Hinge like domain motion facilitates human RBMS1 protein binding to proto-oncogene c-myc promoter.
    Title: Hinge like domain motion facilitates human RBMS1 protein binding to proto-oncogene c-myc promoter.
  6. Loss of RBMS1 as a regulatory target of miR-106b influences cell growth, gap closing and colony forming in prostate carcinoma.
    Title: Loss of RBMS1 as a regulatory target of miR-106b influences cell growth, gap closing and colony forming in prostate carcinoma.
  7. study showed that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 were significantly associated with type 2 diabetes in the Chinese population
    Title: Association between RBMS1 gene rs7593730 and BCAR1 gene rs7202877 and Type 2 diabetes mellitus in the Chinese Han population.
  8. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
    Title: Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.
  9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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
Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes.
EBI GWAS Catalog
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
EBI GWAS Catalog
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3331, MGC15146, MGC70597, MGC97258, MGC97270, MGC97282, MGC99543, DKFZp564H0764

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables double-stranded DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables poly(A) binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables poly(U) RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA replication NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in RNA processing TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
RNA-binding motif, single-stranded-interacting protein 1
Names
c-myc gene single strand binding protein 2
cervical cancer oncogene 4
single-stranded DNA-binding protein MSSP-1
suppressor of CDC2 with RNA-binding motif 2
suppressor of cdc 2 (cdc13) with RNA binding motif 2

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_002897.5 → NP_002888.1  RNA-binding motif, single-stranded-interacting protein 1 isoform c

    See identical proteins and their annotated locations for NP_002888.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as scr2, uses an alternate in-frame donor splice site at one of the coding exons compared to transcript variant 1. This results in a shorter isoform (c) missing a 3 aa segment in the middle region compared to isoform a.
    Source sequence(s)
    AI675628, BC012992, BC018951, BC065192, CN296957, CN399839
    UniProtKB/TrEMBL
    A0A0S2Z499, E7ETU5
    Related
    ENSP00000386571.2, ENST00000409289.6
    Conserved Domains (2) summary
    cd12470
    Location:55 → 140
    RRM1_MSSP1; RNA recognition motif 1 (RRM1) found in vertebrate single-stranded DNA-binding protein MSSP-1
    cd12473
    Location:141 → 225
    RRM2_MSSP1; RNA recognition motif 2 (RRM2) found in vertebrate single-stranded DNA-binding protein MSSP-1

  2. NM_016836.4 → NP_058520.1  RNA-binding motif, single-stranded-interacting protein 1 isoform a

    See identical proteins and their annotated locations for NP_058520.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as YC1 and MSSP-1, encodes the longest isoform (a).
    Source sequence(s)
    AI675628, BC018951, BC065192, CN296957, CN399839
    Consensus CDS
    CCDS2213.1
    UniProtKB/Swiss-Prot
    P29558, Q14869, Q15433, Q53P46, Q53QX8, Q53RG6, Q8WV20
    UniProtKB/TrEMBL
    E7ETU5
    Related
    ENSP00000294904.6, ENST00000348849.8
    Conserved Domains (2) summary
    cd12470
    Location:55 → 140
    RRM1_MSSP1; RNA recognition motif 1 (RRM1) found in vertebrate single-stranded DNA-binding protein MSSP-1
    cd12473
    Location:141 → 225
    RRM2_MSSP1; RNA recognition motif 2 (RRM2) found in vertebrate single-stranded DNA-binding protein MSSP-1

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    160272151..160493807 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445368.1 → XP_047301324.1  RNA-binding motif, single-stranded-interacting protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    160729618..160951341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343266.1 → XP_054199241.1  RNA-binding motif, single-stranded-interacting protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016839.2: Suppressed sequence

    Description
    NM_016839.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P29558.3 GenPept UniProtKB/Swiss-Prot:P29558

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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