Human Gene CUL7 (uc011dvb.2)
  Description: Homo sapiens cullin 7 (CUL7), transcript variant 1, mRNA.
RefSeq Summary (NM_001168370): The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Transcript (Including UTRs)
   Position: hg19 chr6:43,005,355-43,021,683 Size: 16,329 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr6:43,005,426-43,021,596 Size: 16,171 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:43,005,355-43,021,683)mRNA (may differ from genome)Protein (1782 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5H0L1_HUMAN
DESCRIPTION: SubName: Full=Cullin-7;
SIMILARITY: Belongs to the cullin family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: CUL7
Diseases sorted by gene-association score: 3-m syndrome 1* (1220), 3-m syndrome, cul7-related* (500), dubowitz syndrome (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 34.59 RPKM in Pituitary
Total median expression: 465.06 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 -41.7087-0.479 Picture PostScript Text
3' UTR -15.6771-0.221 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
IPR004939 - APC_su10/DOC_dom
IPR011989 - ARM-like
IPR021097 - CPH_domain
IPR016158 - Cullin_homology
IPR001373 - Cullin_N
IPR008979 - Galactose-bd-like
IPR014722 - Transl_SH3-like_sub

Pfam Domains:
PF00888 - Cullin family
PF03256 - Anaphase-promoting complex, subunit 10 (APC10)
PF11515 - Mouse development and cellular proliferation protein Cullin-7

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
49785 - Galactose-binding domain-like
75632 - Cullin homology domain

ModBase Predicted Comparative 3D Structure on F5H0L1
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 Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF341645 - JP 2014500723-A/149148: Polycomb-Associated Non-Coding RNAs.
LF210870 - JP 2014500723-A/18373: Polycomb-Associated Non-Coding RNAs.
BC033647 - Homo sapiens cullin 7, mRNA (cDNA clone MGC:45130 IMAGE:5580027), complete cds.
LF213813 - JP 2014500723-A/21316: Polycomb-Associated Non-Coding RNAs.
D38548 - Homo sapiens KIAA0076 mRNA.
AK292806 - Homo sapiens cDNA FLJ76468 complete cds, highly similar to Homo sapiens cullin 7 (CUL7), mRNA.
AK302668 - Homo sapiens cDNA FLJ56181 complete cds, highly similar to Cullin-7.
JD165576 - Sequence 146600 from Patent EP1572962.
AB383737 - Synthetic construct DNA, clone: pF1KSDA0076, Homo sapiens CUL7 gene for cullin-7, complete cds, without stop codon, in Flexi system.
AK307936 - Homo sapiens cDNA, FLJ97884.
AK309902 - Homo sapiens cDNA, FLJ99943.
LF341641 - JP 2014500723-A/149144: Polycomb-Associated Non-Coding RNAs.
LF341640 - JP 2014500723-A/149143: Polycomb-Associated Non-Coding RNAs.
LF341639 - JP 2014500723-A/149142: Polycomb-Associated Non-Coding RNAs.
LF341638 - JP 2014500723-A/149141: Polycomb-Associated Non-Coding RNAs.
LF341637 - JP 2014500723-A/149140: Polycomb-Associated Non-Coding RNAs.
LF341636 - JP 2014500723-A/149139: Polycomb-Associated Non-Coding RNAs.
LF341634 - JP 2014500723-A/149137: Polycomb-Associated Non-Coding RNAs.
JD221997 - Sequence 203021 from Patent EP1572962.
JD100489 - Sequence 81513 from Patent EP1572962.
JD409194 - Sequence 390218 from Patent EP1572962.
JD405793 - Sequence 386817 from Patent EP1572962.
MA577222 - JP 2018138019-A/149148: Polycomb-Associated Non-Coding RNAs.
MA577218 - JP 2018138019-A/149144: Polycomb-Associated Non-Coding RNAs.
MA577217 - JP 2018138019-A/149143: Polycomb-Associated Non-Coding RNAs.
MA577216 - JP 2018138019-A/149142: Polycomb-Associated Non-Coding RNAs.
MA577215 - JP 2018138019-A/149141: Polycomb-Associated Non-Coding RNAs.
MA577214 - JP 2018138019-A/149140: Polycomb-Associated Non-Coding RNAs.
MA577213 - JP 2018138019-A/149139: Polycomb-Associated Non-Coding RNAs.
MA577211 - JP 2018138019-A/149137: Polycomb-Associated Non-Coding RNAs.
MA446447 - JP 2018138019-A/18373: Polycomb-Associated Non-Coding RNAs.
MA449390 - JP 2018138019-A/21316: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

-  Other Names for This Gene
  Alternate Gene Symbols: F5H0L1, F5H0L1_HUMAN, NM_001168370, NP_001161842
UCSC ID: uc011dvb.2
RefSeq Accession: NM_001168370
Protein: F5H0L1 CCDS: CCDS4881.1, CCDS55003.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CUL7:
gr_3ms (Three M Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001168370.1
exon count: 26CDS single in 3' UTR: no RNA size: 5527
ORF size: 5349CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10892.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.