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

Gene ID: 55544, updated on 2-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
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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 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)

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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_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