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    RBM38 RNA binding motif protein 38 [ Homo sapiens (human) ]

    Gene ID: 55544, updated on 27-Nov-2024

    Summary

    Official Symbol
    RBM38provided by HGNC
    Official Full Name
    RNA binding motif protein 38provided by HGNC
    Primary source
    HGNC:HGNC:15818
    See related
    Ensembl:ENSG00000132819 MIM:612428; AllianceGenome:HGNC:15818
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNPC1; SEB4B; SEB4D; HSRNASEB; dJ800J21.2
    Summary
    Enables mRNA 3'-UTR binding activity. Involved in DNA damage response, signal transduction by p53 class mediator; negative regulation of cell population proliferation; and regulation of gene expression. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 68.1), lymph node (RPKM 23.9) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RBM38 in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57391396..57409333)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59169162..59187091)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55966452..55984389)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene nuclear-encoded mitochondrial tRNA-Leu (TAA) 5-1 Neighboring gene ribonucleic acid export 1 Neighboring gene MT-RNR2 like 3 (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:55949536-55950533 Neighboring gene uncharacterized LOC124904938 Neighboring gene Sharpr-MPRA regulatory region 7479 Neighboring gene RBM38 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13059 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:55966169-55966670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:55966671-55967170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55970944-55971905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55973481-55973980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55975022-55975885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55984023-55984528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18149 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:55985201-55985370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55988977-55989746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55989747-55990514 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:55990515-55991283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18154 Neighboring gene uncharacterized LOC124904939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18155 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:56012611-56012842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56014209-56014710 Neighboring gene VISTA enhancer hs1971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18156 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr20:56026537-56027036 and GRCh37_chr20:56027096-56027596 Neighboring gene uncharacterized LOC105372688 Neighboring gene Sharpr-MPRA regulatory region 5175

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    RNA-binding protein 38
    Names
    CLL-associated antigen KW-5
    RNA-binding region (RNP1, RRM) containing 1
    RNA-binding region-containing protein 1
    ssDNA-binding protein SEB4

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_001291780.2NP_001278709.1  RNA-binding protein 38 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AL109955
      UniProtKB/Swiss-Prot
      Q9H0Z9
      Conserved Domains (2) summary
      TIGR01628
      Location:46269
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12384
      Location:34141
      RRM_RBM24_RBM38_like; RNA recognition motif (RRM) found in eukaryotic RNA-binding protein RBM24, RBM38 and similar proteins
    2. NM_017495.6NP_059965.2  RNA-binding protein 38 isoform a

      See identical proteins and their annotated locations for NP_059965.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3, resulting in an isoform (a) that is shorter than isoform c.
      Source sequence(s)
      AL109955
      Consensus CDS
      CCDS46617.1
      UniProtKB/Swiss-Prot
      A6NDK1, A6NMU6, Q15350, Q15351, Q9BYK3, Q9BYK4, Q9H0Z9
      Related
      ENSP00000348538.5, ENST00000356208.10
      Conserved Domains (2) summary
      TIGR01628
      Location:46237
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12384
      Location:34109
      RRM_RBM24_RBM38_like; RNA recognition motif (RRM) found in eukaryotic RNA-binding protein RBM24, RBM38 and similar proteins
    3. NM_183425.3NP_906270.1  RNA-binding protein 38 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, and also lacks another exon that results in a frameshift in the 3' coding region, compared to variant 3. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform c.
      Source sequence(s)
      AL109955
      Consensus CDS
      CCDS46618.1
      UniProtKB/Swiss-Prot
      Q9H0Z9
      Related
      ENSP00000407848.2, ENST00000440234.6
      Conserved Domains (1) summary
      cd12384
      Location:34109
      RRM_RBM24_RBM38_like; RNA recognition motif (RRM) found in eukaryotic RNA-binding protein RBM24, RBM38 and similar proteins

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      57391396..57409333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528885.4XP_011527187.1  RNA-binding protein 38 isoform X1

      Conserved Domains (1) summary
      cd12384
      Location:34141
      RRM_RBM24_RBM38_like; RNA recognition motif in eukaryotic RNA-binding protein RBM24, RBM38 and similar proteins
    2. XM_005260446.5XP_005260503.1  RNA-binding protein 38 isoform X3

      Conserved Domains (1) summary
      cd12384
      Location:34141
      RRM_RBM24_RBM38_like; RNA recognition motif in eukaryotic RNA-binding protein RBM24, RBM38 and similar proteins
    3. XM_047440258.1XP_047296214.1  RNA-binding protein 38 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      59169162..59187091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323628.1XP_054179603.1  RNA-binding protein 38 isoform X1

    2. XM_054323630.1XP_054179605.1  RNA-binding protein 38 isoform X3

    3. XM_054323629.1XP_054179604.1  RNA-binding protein 38 isoform X2