Human Gene SMU1 (ENST00000397149.4_7) from GENCODE V47lift37
  Description: SMU1 DNA replication regulator and spliceosomal factor (from RefSeq NM_018225.3)
Gencode Transcript: ENST00000397149.4_7
Gencode Gene: ENSG00000122692.9_10
Transcript (Including UTRs)
   Position: hg19 chr9:33,041,763-33,076,672 Size: 34,910 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr9:33,047,291-33,076,606 Size: 29,316 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:33,041,763-33,076,672)mRNA (may differ from genome)Protein (513 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMU1_HUMAN
DESCRIPTION: RecName: Full=WD40 repeat-containing protein SMU1; AltName: Full=Smu-1 suppressor of mec-8 and unc-52 protein homolog;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity).
SIMILARITY: Belongs to the WD repeat SMU1 family.
SIMILARITY: Contains 1 CTLH domain.
SIMILARITY: Contains 1 LisH domain.
SIMILARITY: Contains 6 WD repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.80 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 417.83 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.8066-0.285 Picture PostScript Text
3' UTR -1910.005528-0.346 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006595 - CTLH_C
IPR020472 - G-protein_beta_WD-40_rep
IPR006594 - LisH_dimerisation
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF12894 - Anaphase-promoting complex subunit 4 WD40 domain
PF17814 - LisH-like dimerisation domain

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q2TAY7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016607 nuclear speck
GO:0071005 U2-type precatalytic spliceosome


-  Descriptions from all associated GenBank mRNAs
  AL512690 - Homo sapiens mRNA; cDNA DKFZp761L0916 (from clone DKFZp761L0916).
LP895622 - Sequence 486 from Patent EP3253886.
JD089928 - Sequence 70952 from Patent EP1572962.
JD163797 - Sequence 144821 from Patent EP1572962.
JD521520 - Sequence 502544 from Patent EP1572962.
JD281299 - Sequence 262323 from Patent EP1572962.
JD042027 - Sequence 23051 from Patent EP1572962.
JD139509 - Sequence 120533 from Patent EP1572962.
JD473647 - Sequence 454671 from Patent EP1572962.
JD360160 - Sequence 341184 from Patent EP1572962.
FW364443 - Oligonucleotides for modulating target RNA activity.
HI964948 - Sequence 233 from Patent WO2010139812.
HI966392 - Sequence 712 from Patent WO2010139811.
HI967258 - Sequence 712 from Patent WO2010139810.
HV595345 - JP 2010539959-A/726: Micromirs.
HV938920 - JP 2011519579-A/1748: Oligonucleotides Containing Arabinose Modified Nucleotides For Treating Inflammation and Neoplastic Cell Proliferation.
HW298033 - JP 2013526852-A/2: CIRCULATING BIOMARKERS FOR DISEASE.
HW415848 - JP 2013540995-A/2: CIRCULATING BIOMARKERS FOR DISEASE.
HW915106 - JP 2015504655-A/64: METHODS FOR DIAGNOSIS AND THERAPEUTIC FOLLOW-UP OF MUSCULAR DYSTROPHIES.
HZ074475 - JP 2013535982-A/566: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer.
HZ157902 - JP 2015130862-A/726: Micromirs.
HZ186756 - JP 2015146814-A/505: Oligonucleotides for modulating target RNA activity.
HZ482217 - JP 2015535430-A/2723: TERMINALLY MODIFIED RNA.
HZ482243 - JP 2015535430-A/2749: TERMINALLY MODIFIED RNA.
HZ482259 - JP 2015535430-A/2765: TERMINALLY MODIFIED RNA.
HZ792148 - JP 2016504050-A/3893: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
HZ792174 - JP 2016504050-A/3919: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
HZ792190 - JP 2016504050-A/3935: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JA400986 - Sequence 233 from Patent WO2011080318.
JA401964 - Sequence 233 from Patent WO2011080315.
JA402971 - Sequence 233 from Patent WO2011080316.
JA405602 - Sequence 233 from Patent EP2336353.
JA426919 - Sequence 252 from Patent WO2011072177.
JA429128 - Sequence 233 from Patent WO2011095623.
JA821227 - Sequence 1748 from Patent EP2285961.
JA913764 - Sequence 1 from Patent EP2524059.
JB175240 - Sequence 272 from Patent WO2012101219.
JB230317 - Sequence 3 from Patent EP2556172.
JB620660 - Sequence 640 from Patent WO2013063544.
JB751182 - Sequence 64 from Patent WO2013087907.
JC506026 - Sequence 45 from Patent EP2733219.
JC506028 - Sequence 47 from Patent EP2733219.
JC506030 - Sequence 49 from Patent EP2733219.
JC514880 - Sequence 5133 from Patent WO2014113089.
JC514906 - Sequence 5159 from Patent WO2014113089.
JC514922 - Sequence 5175 from Patent WO2014113089.
JC737450 - Sequence 45 from Patent WO2014075911.
JC737452 - Sequence 47 from Patent WO2014075911.
JC737454 - Sequence 49 from Patent WO2014075911.
LF160338 - JP 2016513950-A/404: Oligomers with improved off-target profile.
LF160882 - JP 2016513950-A/948: Oligomers with improved off-target profile.
LF161240 - JP 2016513950-A/1306: Oligomers with improved off-target profile.
LP727018 - Sequence 712 from Patent EP2883966.
LP819288 - Sequence 712 from Patent EP3296406.
LP939230 - Sequence 712 from Patent EP3184651.
LP951876 - Sequence 382 from Patent WO2017157650.
LQ072468 - Sequence 2792 from Patent EP2964234.
LQ072494 - Sequence 2818 from Patent EP2964234.
LQ072510 - Sequence 2834 from Patent EP2964234.
LQ472190 - Sequence 36 from Patent WO2016115609.
LY405410 - KR 1020160117535-A/715: POLY OLIGOMER COMPOUND WITH BIOCLEAVABLE CONJUGATES.
LZ234113 - JP 2017184756-A/505: Oligonucleotides for modulating target RNA activity.
MA260649 - JP 2017505623-A/715: POLY OLIGOMER COMPOUND WITH BIOCLEAVABLE CONJUGATES.
MS637924 - Sequence 41 from Patent WO2017037190.
MS638048 - Sequence 165 from Patent WO2017037190.
MS834087 - Sequence 233 from Patent EP3112479.
HZ083344 - JP 2015513906-A/701: Stem Cell Microparticles.
HZ437125 - JP 2015529450-A/701: Stem Cell Microparticles.
HZ482232 - JP 2015535430-A/2738: TERMINALLY MODIFIED RNA.
HZ792163 - JP 2016504050-A/3908: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC172329 - Sequence 701 from Patent WO2013150303.
JC506029 - Sequence 48 from Patent EP2733219.
JC514895 - Sequence 5148 from Patent WO2014113089.
JC573140 - Sequence 701 from Patent WO2014125276.
JC582828 - Sequence 701 from Patent WO2014125277.
JC737453 - Sequence 48 from Patent WO2014075911.
JE954524 - Sequence 701 from Patent WO2015052526.
JE956277 - Sequence 701 from Patent WO2015052527.
LF138029 - JP 2016507550-A/701: Method of Producing Microparticles.
LF161667 - JP 2016513950-A/1733: Oligomers with improved off-target profile.
LF162994 - JP 2016513095-A/701: Stem Cell Microparticles and miRNA.
LF953746 - JP 2016534103-A/701: Stem Cell Microparticles and miRNA.
LG006091 - KR 1020150004822-A/701: STEM CELL MICROPARTICLES.
LG053787 - KR 1020150059168-A/701: STEM CELL MICROPARTICLES.
LG241026 - KR 1020160035087-A/701: STEM CELL MICROPARTICLES AND MIRNA.
LQ072483 - Sequence 2807 from Patent EP2964234.
LV471111 - JP 2016534036-A/701: Stem Cell Microparticles and miRNA.
HZ483271 - JP 2015535430-A/3777: TERMINALLY MODIFIED RNA.
HZ483289 - JP 2015535430-A/3795: TERMINALLY MODIFIED RNA.
HZ793202 - JP 2016504050-A/4947: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
HZ793220 - JP 2016504050-A/4965: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC515934 - Sequence 6187 from Patent WO2014113089.
JC515952 - Sequence 6205 from Patent WO2014113089.
LQ073522 - Sequence 3846 from Patent EP2964234.
LQ073540 - Sequence 3864 from Patent EP2964234.
JD236454 - Sequence 217478 from Patent EP1572962.
JD435274 - Sequence 416298 from Patent EP1572962.
JD114037 - Sequence 95061 from Patent EP1572962.
JD288293 - Sequence 269317 from Patent EP1572962.
JD165888 - Sequence 146912 from Patent EP1572962.
JD435828 - Sequence 416852 from Patent EP1572962.
JD247167 - Sequence 228191 from Patent EP1572962.
JD447184 - Sequence 428208 from Patent EP1572962.
JD440719 - Sequence 421743 from Patent EP1572962.
JD063003 - Sequence 44027 from Patent EP1572962.
JD421451 - Sequence 402475 from Patent EP1572962.
JD146097 - Sequence 127121 from Patent EP1572962.
JD179069 - Sequence 160093 from Patent EP1572962.
JD411618 - Sequence 392642 from Patent EP1572962.
DQ575213 - Homo sapiens piRNA piR-43325, complete sequence.
JD243167 - Sequence 224191 from Patent EP1572962.
JD136108 - Sequence 117132 from Patent EP1572962.
JD100564 - Sequence 81588 from Patent EP1572962.
JD051352 - Sequence 32376 from Patent EP1572962.
JD208811 - Sequence 189835 from Patent EP1572962.
JD159016 - Sequence 140040 from Patent EP1572962.
JD366058 - Sequence 347082 from Patent EP1572962.
JD511441 - Sequence 492465 from Patent EP1572962.
JD286581 - Sequence 267605 from Patent EP1572962.
JD546765 - Sequence 527789 from Patent EP1572962.
JD526676 - Sequence 507700 from Patent EP1572962.
JD172178 - Sequence 153202 from Patent EP1572962.
JD176062 - Sequence 157086 from Patent EP1572962.
JD199845 - Sequence 180869 from Patent EP1572962.
JD354674 - Sequence 335698 from Patent EP1572962.
JD378620 - Sequence 359644 from Patent EP1572962.
JD515726 - Sequence 496750 from Patent EP1572962.
JD048842 - Sequence 29866 from Patent EP1572962.
JD461022 - Sequence 442046 from Patent EP1572962.
JD093946 - Sequence 74970 from Patent EP1572962.
JD544907 - Sequence 525931 from Patent EP1572962.
AK001732 - Homo sapiens cDNA FLJ10870 fis, clone NT2RP4001679.
DQ591559 - Homo sapiens piRNA piR-58671, complete sequence.
AK022032 - Homo sapiens cDNA FLJ11970 fis, clone HEMBB1001177.
LF354217 - JP 2014500723-A/161720: Polycomb-Associated Non-Coding RNAs.
JD274880 - Sequence 255904 from Patent EP1572962.
AK225559 - Homo sapiens mRNA for smu-1 suppressor of mec-8 and unc-52 homolog, clone: KDN03696.
BC002876 - Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans), mRNA (cDNA clone MGC:10286 IMAGE:3940669), complete cds.
EF011613 - Homo sapiens CDW3/SMU1 mRNA, complete cds.
AK001667 - Homo sapiens cDNA FLJ10805 fis, clone NT2RP4000839, weakly similar to VEGETATIBLE INCOMPATIBILITY PROTEIN HET-E-1.
AK225587 - Homo sapiens mRNA for smu-1 suppressor of mec-8 and unc-52 homolog, clone: LNG06603.
AK304767 - Homo sapiens cDNA FLJ54259 complete cds, highly similar to Smu-1 suppressor of mec-8 and unc-52 protein homolog.
DQ893005 - Synthetic construct clone IMAGE:100005635; FLH191606.01X; RZPDo839F0177D smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1) gene, encodes complete protein.
KJ894162 - Synthetic construct Homo sapiens clone ccsbBroadEn_03556 SMU1 gene, encodes complete protein.
DQ896251 - Synthetic construct Homo sapiens clone IMAGE:100010711; FLH191602.01L; RZPDo839F0167D smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1) gene, encodes complete protein.
CU678268 - Synthetic construct Homo sapiens gateway clone IMAGE:100020303 5' read SMU1 mRNA.
JD034482 - Sequence 15506 from Patent EP1572962.
JD024259 - Sequence 5283 from Patent EP1572962.
JD027833 - Sequence 8857 from Patent EP1572962.
JD027026 - Sequence 8050 from Patent EP1572962.
JD445456 - Sequence 426480 from Patent EP1572962.
MA645969 - JP 2017113010-A/3893: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA645995 - JP 2017113010-A/3919: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA646011 - JP 2017113010-A/3935: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733853 - JP 2017140048-A/2723: TERMINALLY MODIFIED RNA.
MA733879 - JP 2017140048-A/2749: TERMINALLY MODIFIED RNA.
MA733895 - JP 2017140048-A/2765: TERMINALLY MODIFIED RNA.
MA645984 - JP 2017113010-A/3908: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733868 - JP 2017140048-A/2738: TERMINALLY MODIFIED RNA.
MA647023 - JP 2017113010-A/4947: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA647041 - JP 2017113010-A/4965: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA734907 - JP 2017140048-A/3777: TERMINALLY MODIFIED RNA.
MA734925 - JP 2017140048-A/3795: TERMINALLY MODIFIED RNA.
MA589794 - JP 2018138019-A/161720: Polycomb-Associated Non-Coding RNAs.
MA803022 - JP 2018183181-A/3893: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA803048 - JP 2018183181-A/3919: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA803064 - JP 2018183181-A/3935: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA803037 - JP 2018183181-A/3908: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA804076 - JP 2018183181-A/4947: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA804094 - JP 2018183181-A/4965: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MP129801 - Sequence 701 from Patent EP3470073.
MP162724 - Sequence 701 from Patent WO2019069093.

-  Other Names for This Gene
  Alternate Gene Symbols: B4E3L0, ENST00000397149.1, ENST00000397149.2, ENST00000397149.3, NM_018225, Q2TAY7, Q9BU59, Q9HA96, Q9NVD1, SMU1_HUMAN, uc318yuh.1, uc318yuh.2
UCSC ID: ENST00000397149.4_7
RefSeq Accession: NM_018225.3
Protein: Q2TAY7 (aka SMU1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.