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

    Gene ID: 5937, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See RBMS1 in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (160272151..160493807, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (160729618..160951341, complement)
    RS_2024_09 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 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. 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
    2. 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
    3. 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
    4. 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
    5. Association between RBMS1 gene rs7593730 and BCAR1 gene rs7202877 and Type 2 diabetes mellitus in the Chinese Han population. Kazakova EV, et al. Acta Biochim Pol, 2018. PMID 30188962

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RBMS1 Coordinates with the m[6]A Reader YTHDF1 to Promote NSCLC Metastasis through Stimulating S100P Translation.
      Title: RBMS1 Coordinates with the m(6)A Reader YTHDF1 to Promote NSCLC Metastasis through Stimulating S100P Translation.
    2. 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.
    3. 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.
    4. RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11.
      Title: RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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)

    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_2024_08

    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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