Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9820
Gene name	Cullin 7
Gene symbol	CUL7
Synonyms (NCBI Gene)	3M1CUL-7KIAA0076dJ20C7.5
Chromosome	6
Chromosome location	6p21.1
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs45574335	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs61752334	A>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs121918228	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs121918229	T>C,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs138777262	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, downstream transcript variant
rs139243761	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141211365	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141692693	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs143128153	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs144880219	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, upstream transcript variant, genic upstream transcript variant
rs144926293	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs145572983	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs146227929	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs147326417	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs200040003	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs201135654	G>A	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201406974	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, synonymous variant
rs730880261	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880262	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880263	G>T	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs730880301	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs746333044	G>A,T	Pathogenic	Coding sequence variant, upstream transcript variant, stop gained, genic upstream transcript variant, synonymous variant
rs748555538	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs749509661	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs760910667	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs786205581	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786205651	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727644	CTCCGAGATCAGGGTGCCCATG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs864309521	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886042376	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs886043872	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886044397	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1064792895	AG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064793092	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795325	C>A,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1554135458	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554137913	G>-	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs1554138553	AG>CAGGCA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554138577	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1561873941	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1561875767	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1561881909	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1561892336	C>T	Likely-pathogenic	Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1561898352	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1581930130	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1581962986	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017662	hsa-miR-335-5p	Microarray	18185580

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	24793695
GO:0000281	Process	Mitotic cytokinesis	IMP	24793695
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	20139075
GO:0001890	Process	Placenta development	IDA	20139075
GO:0005515	Function	Protein binding	IPI	17298945, 21572988, 21778237, 22653443, 24793696, 25609649, 33961781, 34591612, 34591642, 35140242
GO:0005680	Component	Anaphase-promoting complex	NAS	12481031
GO:0005737	Component	Cytoplasm	IDA	24793695
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	21572988
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	24793695
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006508	Process	Proteolysis	NAS	12481031
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18498745
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18498745
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0007030	Process	Golgi organization	ISS
GO:0007088	Process	Regulation of mitotic nuclear division	IEA
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	24793695
GO:0008286	Process	Insulin receptor signaling pathway	IDA	38056462
GO:0016567	Process	Protein ubiquitination	IDA	18498745
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	TAS	20139075
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IEA
GO:0031467	Component	Cul7-RING ubiquitin ligase complex	IDA	18498745, 21572988, 24362026
GO:0031467	Component	Cul7-RING ubiquitin ligase complex	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	18498745
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	18498745
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21572988
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IGI	21572988
GO:0050775	Process	Positive regulation of dendrite morphogenesis	ISS
GO:0160072	Function	Ubiquitin ligase complex scaffold activity	IDA	18498745
GO:1990393	Component	3M complex	IDA	24793695, 24793696

MIM	HGNC	e!Ensembl
609577	21024	ENSG00000044090

Q14999

Protein name

Cullin-7 (CUL-7)

Protein function

Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:12481031, PubMed:12904573, PubMed:21572988, PubMed:21737058, PubMed:24793695, PubMed:3598

PDB

2JNG , 7Z8B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11515	Cul7	360 → 434	Mouse development and cellular proliferation protein Cullin-7	Family
PF03256	ANAPC10	831 → 990	Anaphase-promoting complex, subunit 10 (APC10)	Family
PF00888	Cullin	945 → 1524	Cullin family	Family

Tissue specificity

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

MVGELRYREFRVPLGPGLHAYPDELIRQRVGHDGHPEYQIRWLILRRGDEGDGGSGQVDC
KAEHILLWMSKDEIYANCHKMLGEDGQVIGPSQESAGEVGALDKSVLEEMETDVKSLIQR
ALRQLEECVGTIPPAPLLHTVHVLSAYASIEPLTGVFKDPRVLDLLMHMLSSPDYQIRWS
AGRMIQALSSHDAGTRTQILLSLSQQEAIEKHLDFDSRCALLALFAQATLSEHPMSFEGI
QLPQVPGRVLFSLVKRYLHVTSLLDQLNDSAAEPGAQNTSAPEELSGERGQLELEFSMAM
GTLISELVQAMRWDQASDRPRSSARSPGSIFQPQLADVSPGLPAAQAQPSFRRSRRFRPR
SEFASGNTYALYVRDTLQPGMRVRMLDDYEEISAGDEGEFRQSNNGVPPVQVFWESTGRT
YWVHWHMLEILGFEEDIEDMVEADEYQGAVASRVLGRALPAWRWRPMTELYAVPYVLPED
EDTEECEHLTLAEWWELLFFIKKLDGPDHQEVLQILQENLDGEILDDEILAELAVPIELA
QDLLLTLPQRLNDSALRDLINCHVYKKYGPEALAGNQAYPSLLEAQEDVLLLDAQAQAKD
SEDAAKVEAKEPPSQSPNTPLQRLVEGYGPAGKILLDLEQALSSEGTQENKVKPLLLQLQ
RQPQPFLALMQSLDTPETNRTLHLTVLRILKQLVDFPEALLLPWHEAVDACMACLRSPNT
DREVLQELIFFLHRLTSVSRDYAVVLNQLGARDAISKALEKHLGKLELAQELRDMVFKCE
KHAHLYRKLITNILGGCIQMVLGQIEDHRRTHQPINIPFFDVFLRYLCQGSSVEVKEDKC
WEKVEVSSNPHRASKLTDHNPKTYWESNGSAGSHYITLHMRRGILIRQLTLLVASEDSSY
MPARVVVCGGDSTSSLHTELNSVNVMPSASRVILLENLTRFWPIIQIRIKRCQQGGIDTR
IRGLEILGPKPTFWPVFREQLCRHTRLFYMVRAQAWSQDMAEDRRSLLHLSSRLNGALRQ
EQNFADRFLPDDEAAQALGKTCWEALVSPVVQNITSPDEDGISPLGWLLDQYLECQEAVF
NPQSRGPAFFSRVRRLTHLLVHVEPCEAPPPVVATPRPKGRNRSHDWSSLATRGLPSSIM
RNLTRCWRAVVEKQVNNFLTSSWRDDDFVPRYCEHFNILQNSSSELFGPRAAFLLALQNG
CAGALLKLPFLKAAHVSEQFARHIDQQIQGSRIGGAQEMERLAQLQQCLQAVLIFSGLEI
ATTFEHYYQHYMADRLLGVVSSWLEGAVLEQIGPCFPNRLPQQMLQSLSTSKELQRQFHV
YQLQQLDQELLKLEDTEKKIQVGLGASGKEHKSEKEEEAGAAAVVDVAEGEEEEEENEDL
YYEGAMPEVSVLVLSRHSWPVASICHTLNPRTCLPSYLRGTLNRYSNFYNKSQSHPALER
GSQRRLQWTWLGWAELQFGNQTLHVSTVQMWLLLYLNDLKAVSVESLLAFSGLSADMLNQ
AIGPLTSSRGPLDLHEQKDIPGGVLKIRDGSKEPRSRWDIVRLIPPQTYLQAEGEDGQNL
EKRRNLLNCLIVRILKAHGDEGLHIDQLVCLVLEAWQKGPCPPRGLVSSLGKGSACSSTD
VLSCILHLLGKGTLRRHDDRPQVLSYAVPVTVMEPHTESLNPGSSGPNPPLTFHTLQIRS
RGVPYASCTATQSFSTFR

Sequence length

1698

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		XBP1(S) activates chaperone genes Neddylation Antigen processing: Ubiquitination & Proteasome degradation

314

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-M syndrome	Pathogenic; Likely pathogenic	rs758737233, rs121918229, rs1340929933, rs61752334, rs1173494063, rs748555538, rs2532602526, rs1359152024, rs1064792895, rs1554138553, rs760910667, rs759300846	RCV004766575 RCV002281688 RCV002238638 RCV002509281 RCV002510277 RCV003987494 RCV003405083 RCV003988477 RCV000487737 RCV004767325 RCV004800561 RCV003155388
3M syndrome 1	Pathogenic; Likely pathogenic	rs2150304168, rs2150328634, rs1473516947, rs201406974, rs201137899, rs121918228, rs121918229, rs730880261, rs730880262, rs730880263, rs2150317151, rs2150320060, rs2150321832, rs377169342, rs1763636120 View all (29 more)	RCV001644998 RCV001667871 RCV004596030 RCV000115042 RCV005032052 RCV000001680 RCV000001681 RCV000001682 RCV000001685 RCV000001686 RCV002238735 RCV002238736 RCV002249019 RCV002251130 RCV002254374 RCV002283776 RCV002283812 RCV002283875 RCV004798796 RCV000755718 RCV005230039 RCV005045011 RCV000202615 RCV002503985 RCV003988842 RCV003314151 RCV003337722 RCV003388660 RCV003988791 RCV004556173 RCV005044773 RCV001265587 RCV000778114 RCV000778115 RCV000778116 RCV000778120 RCV000778121 RCV000985217 RCV001174508 RCV000987706 RCV001028003 RCV001268949 RCV001293688 RCV006274186
CUL7-related disorder	Pathogenic	rs730880261	RCV003390632
Yakut short stature syndrome	Pathogenic	rs730880301	RCV000001683

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1763081105	-
Acute myeloid leukemia	Benign	rs144154816	RCV005899083
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs201135654, rs144154816	RCV005889822 RCV005899085
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs144154816, rs3737186	RCV005899095 RCV005899102
Clear cell carcinoma of kidney	Benign	rs150212051	RCV005889829
Familial cancer of breast	Likely benign; Benign	rs373514392, rs144154816	RCV005928230 RCV005899082
Familial pancreatic carcinoma	Benign	rs3737186	RCV005899099
Gastric cancer	Likely benign; Benign	rs754238136, rs144154816	RCV005912713 RCV005899088
Growth delay	Uncertain significance	rs140218677	RCV001270065
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs3737186, rs199819170	RCV005899096 RCV005914002
Lung cancer	Benign	rs144154816	RCV005899093
Lymphoma	Benign	rs41274916, rs144154816, rs3737186	RCV005917995 RCV005899089 RCV005899101
Malignant tumor of esophagus	Benign; Uncertain significance	rs144154816, rs3737186, rs371627402	RCV005899084 RCV005899097 RCV005898684
Nonpapillary renal cell carcinoma	Benign	rs41274916, rs150212051	RCV005917993 RCV005889828
Ovarian cancer	Benign	rs41274916, rs144154816, rs3737186	RCV005917994 RCV005899086 RCV005899098
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs143314106, rs373514392, rs144154816	RCV005921160 RCV005928231 RCV005899090
Sarcoma	Benign	rs113218760, rs144154816, rs3737186	RCV005923747 RCV005899087 RCV005899100
Short stature	Uncertain significance	rs140218677	RCV001270065
Thymoma	Benign; Uncertain significance	rs150212051, rs144154816, rs764000209	RCV005889830 RCV005899092 RCV005913980
Uterine carcinosarcoma	Benign	rs144154816	RCV005899091
Uterine corpus endometrial carcinoma	Benign	rs113218760, rs144154816	RCV005923748 RCV005899094

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adamantinoma	Associate	37877343
Autistic Disorder	Associate	25961944
Carcinoma Hepatocellular	Associate	29207970
Choriocarcinoma	Associate	20139075
Cleft Lip	Associate	34024335
Colonic Neoplasms	Associate	36304472
Colorectal Neoplasms	Associate	29328363, 36304472
Dwarfism Pituitary	Associate	23517720
Fetal Growth Retardation	Associate	20139075
Growth Disorders	Associate	17675530, 19225462, 20139075, 21737058, 22974575, 24711643, 24793695
Hypertension	Associate	35563538
Laron Syndrome	Associate	34136918
Lymphatic Metastasis	Stimulate	29207970
Miller McKusick Malvaux Syndrome (3M Syndrome)	Associate	17675530, 19225462, 20139075, 21737058, 22974575, 23517720, 24711643, 25752541, 30945686, 32141654, 34136918, 35982156, 37877343
Neoplasms	Associate	17586686, 29207970, 36304472
Ovarian Neoplasms	Associate	34793589
Pancreatic Neoplasms	Associate	24362026
Placenta Diseases	Associate	20139075
Pseudohypoaldosteronism	Associate	35563538
Renal Insufficiency	Associate	24711643
Testicular Neoplasms	Associate	37877343
Thrombosis	Associate	29207970

CUL7 (cullin 7)