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

Gene ID: 55234, updated on 5-Jul-2020

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
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
Expression
Ubiquitous expression in brain (RPKM 7.9), thyroid (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See SMU1 in Genome Data Viewer
Location:
9p21.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (33041765..33076705, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33041850..33076714, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene aprataxin Neighboring gene L antigen family member 3 pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene beta-1,4-galactosyltransferase 1 Neighboring gene microRNA 12117 Neighboring gene B4GALT1 antisense RNA 1 Neighboring gene RNA, U4atac small nuclear 15, pseudogene

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

Homology

Clone Names

  • FLJ10805, FLJ10870, FLJ11970, MGC117363, DKFZp761L0916

Gene Ontology Provided by GOA

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

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)

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
    Q2TAY7
    UniProtKB/TrEMBL
    A0MNN4
    Related
    ENSP00000380336.3, ENST00000397149.4
    Conserved Domains (5) summary
    smart00667
    Location:538
    LisH; Lissencephaly type-1-like homology motif
    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]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    33041765..33076705 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251503.5XP_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]
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