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    RBM48 RNA binding motif protein 48 [ Homo sapiens (human) ]

    Gene ID: 84060, updated on 21-Nov-2024

    Summary

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    Official Symbol
    RBM48provided by HGNC
    Official Full Name
    RNA binding motif protein 48provided by HGNC
    Primary source
    HGNC:HGNC:21785
    See related
    Ensembl:ENSG00000127993 MIM:621015; AllianceGenome:HGNC:21785
    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
    C7orf64; HSPC304
    Summary
    Predicted to enable RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.5), brain (RPKM 2.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM48 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92528795..92540481)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93770072..93781758)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92158109..92169795)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:92105944-92106445 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene endogenous retrovirus group W member 1, envelope Neighboring gene peroxisomal biogenesis factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26262 Neighboring gene family with sequence similarity 133 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26264 Neighboring gene uncharacterized LOC105375397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18373

    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. Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing. Siebert AE, et al. Genetics, 2022 Sep 30. PMID 36040194, Free PMC Article
    2. Structure of the activated human minor spliceosome. Bai R, et al. Science, 2021 Mar 19. PMID 33509932
    3. High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities. Hart T, et al. Cell, 2015 Dec 3. PMID 26627737
    4. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Goehler H, et al. Mol Cell, 2004 Sep 24. PMID 15383276
    5. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing.
      Title: Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing.
    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

    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

    • MGC16142, DKFZP564O0523, DKFZp686D1651

    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 RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding protein 48
    Names
    UPF0712 protein C7orf64

    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_001363366.1 → NP_001350295.1  RNA-binding protein 48 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005156, BC044570, BX113088
      UniProtKB/TrEMBL
      Q6FI77
      Conserved Domains (1) summary
      cd12442
      Location:36 → 135
      RRM_RBM48; RNA recognition motif in RNA-binding protein 48 (RBM48) and similar proteins

    2. NM_001363367.1 → NP_001350296.1  RNA-binding protein 48 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005156, AC007566, BC044570, BX113088, DC319375

    3. NM_032120.4 → NP_115496.2  RNA-binding protein 48 isoform 1

      See identical proteins and their annotated locations for NP_115496.2

      Status: VALIDATED

      Source sequence(s)
      AC005156, BC044570, BX113088
      Consensus CDS
      CCDS43615.1
      UniProtKB/Swiss-Prot
      B7Z2K5, B7ZL51, Q5H9T2, Q5RL73, Q8IYW7, Q96NS0, Q9H0V7
      UniProtKB/TrEMBL
      Q6FI77
      Related
      ENSP00000265732.5, ENST00000265732.10
      Conserved Domains (1) summary
      cd12442
      Location:36 → 135
      RRM_RBM48; RNA recognition motif (RRM) found in RNA-binding protein 48 (RBM48) 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      92528795..92540481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716149.5 → XP_006716212.1  RNA-binding protein 48 isoform X2

      UniProtKB/TrEMBL
      Q6FI77
      Conserved Domains (1) summary
      cd12442
      Location:36 → 135
      RRM_RBM48; RNA recognition motif in RNA-binding protein 48 (RBM48) and similar proteins

    2. XM_005250636.6 → XP_005250693.1  RNA-binding protein 48 isoform X1

      See identical proteins and their annotated locations for XP_005250693.1

      UniProtKB/TrEMBL
      Q6FI77
      Related
      ENSP00000419242.1, ENST00000481551.5
      Conserved Domains (1) summary
      cd12442
      Location:36 → 135
      RRM_RBM48; RNA recognition motif in RNA-binding protein 48 (RBM48) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93770072..93781758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359197.1 → XP_054215172.1  RNA-binding protein 48 isoform X2

    2. XM_054359196.1 → XP_054215171.1  RNA-binding protein 48 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032763.1: Suppressed sequence

      Description
      NM_032763.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.

    2. NR_026902.1: Suppressed sequence

      Description
      NR_026902.1: This RefSeq was removed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RL73.1 GenPept UniProtKB/Swiss-Prot:Q5RL73

    Gene LinkOut

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

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