• Gene id: 9820

Gene Summary

• Gene Symbol: CUL7   Gene   UCSC   Ensembl
• Aliases: 3M1, CUL-7, KIAA0076, dJ20C7.5
• Gene name: cullin 7
• Alternate names: cullin-7,
• Gene location: 6p21.1 (43053944: 43037616)     Exons: 27     NC_000006.12
• Gene summary(Entrez): 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 di
• OMIM: 617689

Protein Summary

• Protein general information: Q14999  
  • Name: Cullin 7 (CUL 7)
  • Length: 1698  
  • Mass: 191161
  • Tissue specificity: Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.
• Sequence:

  MVGELRYREFRVPLGPGLHAYPDELIRQRVGHDGHPEYQIRWLILRRGDEGDGGSGQVDCKAEHILLWMSKDEIY
  ANCHKMLGEDGQVIGPSQESAGEVGALDKSVLEEMETDVKSLIQRALRQLEECVGTIPPAPLLHTVHVLSAYASI
  EPLTGVFKDPRVLDLLMHMLSSPDYQIRWSAGRMIQALSSHDAGTRTQILLSLSQQEAIEKHLDFDSRCALLALF
  AQATLSEHPMSFEGIQLPQVPGRVLFSLVKRYLHVTSLLDQLNDSAAEPGAQNTSAPEELSGERGQLELEFSMAM
  GTLISELVQAMRWDQASDRPRSSARSPGSIFQPQLADVSPGLPAAQAQPSFRRSRRFRPRSEFASGNTYALYVRD
  TLQPGMRVRMLDDYEEISAGDEGEFRQSNNGVPPVQVFWESTGRTYWVHWHMLEILGFEEDIEDMVEADEYQGAV
  ASRVLGRALPAWRWRPMTELYAVPYVLPEDEDTEECEHLTLAEWWELLFFIKKLDGPDHQEVLQILQENLDGEIL
  DDEILAELAVPIELAQDLLLTLPQRLNDSALRDLINCHVYKKYGPEALAGNQAYPSLLEAQEDVLLLDAQAQAKD
  SEDAAKVEAKEPPSQSPNTPLQRLVEGYGPAGKILLDLEQALSSEGTQENKVKPLLLQLQRQPQPFLALMQSLDT
  PETNRTLHLTVLRILKQLVDFPEALLLPWHEAVDACMACLRSPNTDREVLQELIFFLHRLTSVSRDYAVVLNQLG
  ARDAISKALEKHLGKLELAQELRDMVFKCEKHAHLYRKLITNILGGCIQMVLGQIEDHRRTHQPINIPFFDVFLR
  YLCQGSSVEVKEDKCWEKVEVSSNPHRASKLTDHNPKTYWESNGSAGSHYITLHMRRGILIRQLTLLVASEDSSY
  MPARVVVCGGDSTSSLHTELNSVNVMPSASRVILLENLTRFWPIIQIRIKRCQQGGIDTRIRGLEILGPKPTFWP
  VFREQLCRHTRLFYMVRAQAWSQDMAEDRRSLLHLSSRLNGALRQEQNFADRFLPDDEAAQALGKTCWEALVSPV
  VQNITSPDEDGISPLGWLLDQYLECQEAVFNPQSRGPAFFSRVRRLTHLLVHVEPCEAPPPVVATPRPKGRNRSH
  DWSSLATRGLPSSIMRNLTRCWRAVVEKQVNNFLTSSWRDDDFVPRYCEHFNILQNSSSELFGPRAAFLLALQNG
  CAGALLKLPFLKAAHVSEQFARHIDQQIQGSRIGGAQEMERLAQLQQCLQAVLIFSGLEIATTFEHYYQHYMADR
  LLGVVSSWLEGAVLEQIGPCFPNRLPQQMLQSLSTSKELQRQFHVYQLQQLDQELLKLEDTEKKIQVGLGASGKE
  HKSEKEEEAGAAAVVDVAEGEEEEEENEDLYYEGAMPEVSVLVLSRHSWPVASICHTLNPRTCLPSYLRGTLNRY
  SNFYNKSQSHPALERGSQRRLQWTWLGWAELQFGNQTLHVSTVQMWLLLYLNDLKAVSVESLLAFSGLSADMLNQ
  AIGPLTSSRGPLDLHEQKDIPGGVLKIRDGSKEPRSRWDIVRLIPPQTYLQAEGEDGQNLEKRRNLLNCLIVRIL
  KAHGDEGLHIDQLVCLVLEAWQKGPCPPRGLVSSLGKGSACSSTDVLSCILHLLGKGTLRRHDDRPQVLSYAVPV
  TVMEPHTESLNPGSSGPNPPLTFHTLQIRSRGVPYASCTATQSFSTFR

• Structural information:
  • Protein Domains: (814..99-)
    (/note="DOC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00614"-)
  • Interpro: IPR004939  IPR016024  IPR021097  IPR031223  IPR016158   IPR036317  IPR001373  IPR019559  IPR008979  IPR014722  
  • Prosite: PS50069 PS51284
  • PDB: 2JNG
  • PDBsum: 2JNG
  • DIP: 31618 60187
  • STRING: ENSP00000438788
• Other Databases: GeneCards:  CUL7  Malacards:  CUL7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990393	3M complex	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:1990393	3M complex	IDA	cellular component
GO:0001890	placenta development	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0031467	Cul7-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0031467	Cul7-RING ubiquitin ligase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0007088	regulation of mitotic nuclear division	IMP	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:1990393	3M complex	IEA	cellular component
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0031467	Cul7-RING ubiquitin ligase complex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001570	vasculogenesis	IEA	biological process
GO:0031467	Cul7-RING ubiquitin ligase complex	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0031467	Cul7-RING ubiquitin ligase complex	IDA	cellular component
GO:0006508	proteolysis	NAS	biological process
GO:0005680	anaphase-promoting complex	NAS	cellular component
GO:0001570	vasculogenesis	ISS	biological process
GO:0050775	positive regulation of dendrite morphogenesis	IGI	biological process
GO:0050775	positive regulation of dendrite morphogenesis	ISS	biological process
GO:0007030	Golgi organization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
3M syndrome	KEGG:H00509
3M syndrome	KEGG:H00509
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq