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    SMU1 SMU1 DNA replication regulator and spliceosomal factor [ Homo sapiens (human) ]

    Gene ID: 55234, updated on 27-Nov-2024

    Summary

    Official Symbol
    SMU1provided by HGNC
    Official Full Name
    SMU1 DNA replication regulator and spliceosomal factorprovided by HGNC
    Primary source
    HGNC:HGNC:18247
    See related
    Ensembl:ENSG00000122692 MIM:617811; AllianceGenome:HGNC:18247
    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
    BWD; SMU-1; fSAP57
    Summary
    Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.9), thyroid (RPKM 7.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMU1 in Genome Data Viewer
    Location:
    9p21.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (33041765..33076674, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (33058326..33097983, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33041763..33076672, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene aprataxin Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33024111-33024706 Neighboring gene Sharpr-MPRA regulatory region 3987 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33025301-33025895 Neighboring gene L antigen family member 3 pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33043981-33044482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33111589-33112188 Neighboring gene beta-1,4-galactosyltransferase 1 Neighboring gene microRNA 12117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28273 Neighboring gene uncharacterized LOC124902141

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev is identified to have a physical interaction with suppressor of mec-8 and unc-52 homolog (SMU-1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10805, FLJ10870, FLJ11970, MGC117363, DKFZp761L0916

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of precatalytic spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    WD40 repeat-containing protein SMU1
    Names
    DNA replication regulator and spliceosomal factor
    brain-enriched WD-repeat protein
    functional spliceosome-associated protein 57
    smu-1 suppressor of mec-8 and unc-52 homolog
    smu-1 suppressor of mec-8 and unc-52 protein homolog

    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_018225.3NP_060695.2  WD40 repeat-containing protein SMU1

      See identical proteins and their annotated locations for NP_060695.2

      Status: VALIDATED

      Source sequence(s)
      AK001667, AL162590
      Consensus CDS
      CCDS6534.1
      UniProtKB/Swiss-Prot
      B4E3L0, Q2TAY7, Q9BU59, Q9HA96, Q9NVD1
      UniProtKB/TrEMBL
      A0MNN4, A8MXW4
      Related
      ENSP00000380336.3, ENST00000397149.4
      Conserved Domains (5) summary
      smart00668
      Location:4090
      CTLH; C-terminal to LisH motif
      COG4598
      Location:102218
      HisP; ABC-type histidine transport system, ATPase component [Amino acid transport and metabolism]
      cd00200
      Location:205512
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:219262
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:736
      LisH_TPL; LisH-like dimerisation domain

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      33041765..33076674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251503.6XP_005251560.1  WD40 repeat-containing protein SMU1 isoform X1

      See identical proteins and their annotated locations for XP_005251560.1

      Conserved Domains (5) summary
      smart00667
      Location:538
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:4081
      CTLH; C-terminal to LisH motif
      COG2319
      Location:161462
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:154461
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:168211
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      33058326..33097983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363216.1XP_054219191.1  WD40 repeat-containing protein SMU1 isoform X2

      UniProtKB/Swiss-Prot
      B4E3L0, Q2TAY7, Q9BU59, Q9HA96, Q9NVD1
      UniProtKB/TrEMBL
      A0MNN4, A8MXW4
    2. XM_054363217.1XP_054219192.1  WD40 repeat-containing protein SMU1 isoform X1