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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CUL7 Gene

protein-coding GIFtS: 61
GCID: GC06M043053

cullin 7

(Previous name: KIAA0076 )
(Previous symbol: KIAA0076)

Explore 11 diseases affiliated with
CUL7 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cullin 7¹ ²
KIAA0076¹ ² ³
DJ20C7.5¹
CUL-7² ³
Cullin-7¹

External Ids:	HGNC: 21024¹	Entrez Gene: 9820²	Ensembl: ENSG00000044090⁷	OMIM: 609577⁵	UniProtKB: Q14999³

Export aliases for CUL7 gene to outside databases

Previous GC identifers: GC06M043113 GC06M042722

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CUL7:

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)

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999

Function: Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and

subsequent proteasomal degradation of target proteins. Probably plays a role in the degradation of proteins involved

in endothelial proliferation and/or differentiation (By similarity). Seems not to promote polyubiquitination and

proteasomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or TP53 contain E3

ubiquitin-protein ligase activity

Gene Wiki entry for CUL7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CUL7 gene promoter:
GR E2F-4 E2F-3a E2F-5 Sox5 RFX1 E2F-2 E2F E2F-1 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CUL7 promoter sequence

Search SABiosciences Chromatin IP Primers for CUL7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CUL7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1 Ensembl cytogenetic band: 6p21.1 HGNC cytogenetic band: 6p21.1

CUL7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CUL7 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M043053: view genomic region (about GC identifiers)

Start:	43,005,355 bp from pter	End:	43,021,683 bp from pter
Size:	16,329 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999 (See protein sequence)

Recommended Name: Cullin-7

Size: 1698 amino acids; 191161 Da

Subunit: Part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1. Interacts with a complex

of SKP1 and FBXW8, but not with SKP1 alone. Interacts with CUL9. Interacts with FBXW8; interaction is mutually

exclusive of binding to CUL9 or TP53. Interacts with TP53; the interaction preferentially involves tetrameric and

dimeric TP53. The CUL7-CUL9 heterodimer seems to interact specifically with TP53. Interacts with CUL1; the

interactions seems to be mediated by FBXW8 (By similarity). Interacts with SV40 Large T antigen; this interaction

seems to inhibit CUL7. Component of a SCF-like complex composed of SV40 Large T antigen, CUL7, SKP1, RBX1, and FBXW8.

Interacts with OBSL1

Subcellular location: Cytoplasm

Sequence caution: Sequence=BAA07551.2; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for CUL7:

2JNG (3D)

Secondary accessions: B4DYZ0 F5H0L1 Q5T654

Alternative splicing: 2 isoforms: Q14999-1 Q14999-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CUL7: NX_Q14999

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14999

CUL7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001161842.1 NP_055595.2

ENSEMBL proteins:

ENSP00000265348 ENSP00000438788

Reactome Protein details: Q14999
Human Recombinant Protein Products:

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	Novus Biologicals CUL7 Protein
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	Uscn Proteins for CUL7

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005680	anaphase-promoting complex	NAS	12481031
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

CUL7 for ontologies About GeneDecksing

CUL7 Antibody Products:

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	Uscn Antibodies for CUL7
	ThermoFisher Antibody for CUL7

Assay Products for CUL7:

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	GenScript Custom Assay Services for CUL7
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CUL7

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CUL7 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR004939 APC_su10/DOC_dom

IPR001373 Cullin_N

IPR008979 Galactose-bd-like

IPR016158 Cullin_homology

IPR014722 Rib_L2_dom2

Graphical View of Domain Structure for InterPro Entry Q14999

ProtoNet protein and cluster: Q14999

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999

Similarity: Belongs to the cullin family

Similarity: Contains 1 DOC domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999

Function: Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and

subsequent proteasomal degradation of target proteins. Probably plays a role in the degradation of proteins involved

in endothelial proliferation and/or differentiation (By similarity). Seems not to promote polyubiquitination and

proteasomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or TP53 contain E3

ubiquitin-protein ligase activity

miRNA Products:		OriGene 3'-UTR Clone: CUL7 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CUL7
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CUL7
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUL7 (see all 4) OriGene shRNA RFP: CUL7 OriGene siRNA: CUL7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUL7

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CUL7

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CUL7
		Search LifeMap BioReagents cell lines for CUL7

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUL7

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17298945
GO:0031625	ubiquitin protein ligase binding	IEA	--

CUL7 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for CUL7:

Increased cell death HMECs cel

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for CUL7: Cul7^tm1Jdec Cul7^tm1Zqp
10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Cul7):

adipose tissue	cardiovascular system	cellular	embryogenesis	growth/size
homeostasis/metabolism	mortality/aging	no phenotypic analysis	respiratory system	skeleton

CUL7 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Antigen processing: Ubiquitination & Proteasome degradation

	Antigen processing: Ubiquitination & Proteasome degradation	1.00			Polyubiquitination of substrate	0.75
	Class I MHC mediated antigen processing & presentation	0.83			Ubiquitin mediated proteolysis	0.36

Activation of Chaperone Genes by XBP1(S)

	Activation of Chaperone Genes by XBP1(S)	1.00			Unfolded Protein Response	0.71
	Activation of Chaperones by IRE1alpha	0.94

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Expression of Cullin-7

Expression of Cullin-7

1.00

Asparagine N-linked glycosylation

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

5/10 Reactome Pathways for CUL7 (see all 10)

	Polyubiquitination of substrate
	Adaptive Immune System
	Activation of Chaperone Genes by XBP1(S)
	Antigen processing: Ubiquitination & Proteasome degradation
	Expression of Cullin-7

1 Kegg Pathway (Kegg details for CUL7):

Ubiquitin mediated proteolysis

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999

Pathway: Protein modification; protein ubiquitination

CUL7 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CUL7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/85 Interacting proteins for CUL7 (Q14999^{1, 2, 3} ENSP00000265348⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 85)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TP53	P04637¹^,²^,³, ENSP00000269305⁴	EBI-308606,EBI-366083 MINT-8415355 I2D: score=2 STRING: ENSP00000269305
RBX1	P62877²^,³, ENSP00000216225⁴	MINT-8415355 I2D: score=5 STRING: ENSP00000216225
SKP1	P63208²^,³, ENSP00000231487⁴	MINT-8415355 I2D: score=5 STRING: ENSP00000231487
FBXW8	Q8N3Y1²^,³, ENSP00000310686⁴	MINT-8415355 I2D: score=4 STRING: ENSP00000310686
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110203 I2D: score=3 STRING: ENSP00000361423

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001570	vasculogenesis	ISS	--
GO:0006508	proteolysis	NAS	12481031
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	--
GO:0006987	activation of signaling protein activity involved in unfolded protein response	TAS	--
GO:0016567	protein ubiquitination	IEA	--

CUL7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CUL7
Search CenterWatch for drugs/clinical trials and news about CUL7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CUL7 gene (2 alternative transcripts):

NM_001168370.1 NM_014780.4

Unigene Cluster for CUL7:

Cullin 7

Hs.520136 [show with all ESTs]

Unigene Representative Sequence: NM_001168370

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265348(uc010jyg.3) ENST00000478630 ENST00000535468(uc003otq.3 uc011dvb.2)

miRNA Products:		OriGene 3'-UTR Clone: CUL7 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CUL7
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUL7 (see all 4) OriGene shRNA RFP: CUL7 OriGene siRNA: CUL7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUL7

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CUL7 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CUL7 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CUL7
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CUL7

Additional cDNA sequence:

AK292806.1 AK302668.1 AK307936.1 AK309902.1 BC033647.1 D38548.1

19 DOTS entries:

DT.86849052 DT.215672 DT.121375018 DT.102836932 DT.121375017 DT.95149131 DT.100780706 DT.97781150

DT.121374921 DT.75182058 DT.100780711 DT.100780707 DT.87014980 DT.92424011 DT.95149207 DT.99963120

DT.40275918 DT.75103749 DT.91663686

24/178 AceView cDNA sequences (see all 178):

BM698845 BP351752 BQ918243 BQ050054 R98569 BQ670215 AA351340 BX394355

BQ949424 BU856953 AL042914 AI356267 BU624413 BM662682 BX479113 AA479771

BE560863 BX102885 BU859377 BC033647 BU854824 BU073341 AI359671 D38548

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for CUL7 (see all 22) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	·	10c	^	11a	·	11b	^	12	^	13a	·	13b	·	13c	^	14	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	15a	·	15b	^	16	^	17	^	18a	·	18b	·	18c	^	19a	·	19b	^	20a	·	20b	^	21	^	22a	·	22b	·	22c	^	23	^	24a	·	24b	^	25a	·	25b	^	26a	·	26b	^	27	^	28	^	29a	·	29b	·
SP1:									-								-
SP2:									-								-
SP3:																	-
SP4:									-
SP5:																																	-

ExUns:	29c	·	29d	^	30a	·	30b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CUL7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CUL7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGCCTCACA

About this image

CUL7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Endochondral Facial Bones

Bone

Bone

Bone

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CUL7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CUL7

SOURCE GeneReport for Unigene cluster: Hs.520136

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999

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

SABiosciences Expression via Pathway-Focused PCR Arrays including CUL7:

Ubiquitination (Ubiquitylation) Pathway in human mouse rat

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CUL7 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CUL7

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUL7

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CUL7 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	E1BZ07_CHICK⁶ -- (see all 3)	Uncharacterized protein (see all 3)	48(a) 39(a) (see all 3)	many ↔ many many ↔ many (see all 3)	3(4275756-4283048) 3(4355081-4363758)
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	48(a) 38(a) (see all 3)	many ↔ many many ↔ many (see all 3)	2(144228552-144239569) 2(144210212-144221069)
zebrafish (Danio rerio)	Actinopterygii	CABZ01087282.2⁶ CABZ01087282.1⁶	--	39(a) 38(a)	1 ↔ many possible ortholog	Zv9_NA395(33864-34631) Zv9_NA395(166-15589)

ENSEMBL Gene Tree for CUL7 (if available)
TreeFam Gene Tree for CUL7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CUL7 gene

ANKIB1² CUL9² ARIH1² ARIH2²

1 SIMAP similar gene for CUL7 using alignment to 2 protein entries: CUL7_HUMAN (see all proteins):

CUL9

CUL7 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918228^1,2	C,	pathogenic	71812004(-)	`AGAGGC/TGACTG`	4	R *	stg¹		0	--	--	--	--
rs11753750^1,2	C,F,A,H,	--	42722108(+)	`CAAACG/AAGGAG`	2	--	ds500¹		15		NS EA NA	1532
rs200333395^1,2	C	--	42722273(-)	`TCTAGA/GCAGAG`	2	--	ds500¹		0	--	--	--	--
rs76588719^1,2		--	42722362(+)	`TCATGC/TGACAG`	2	--	ds500¹		1		WA	118
rs28554041^1,2	C	--	42723215(+)	`GCCGTA/CTTCAC`	4	D Y	mis¹ ese³		0	--	--	--	--
rs58659748^1,2		--	42724002(+)	`GGCCTG/TCCTCT`	2	--	int¹		3		CSA WA	121
rs62417467^1,2		--	42724200(+)	`CCTGAC/GCACAG`	2	--	int¹		1		NA	120
rs113218760^1,2		--	42724740(+)	`ACACCC/TGGCTA`	2	--	int¹		1		CSA	2
rs112613155^1,2		--	42724768(+)	`AGAGAT/CGAGGT`	2	--	int¹		1		CSA	1
rs12203333^1,2	C,H	--	42725007(+)	`TTGTAG/AAAGTT`	4	/F	syn¹ ese³		6		NS EA NA	518

HapMap Linkage Disequilibrium report for CUL7 (43005355 - 43021683 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CUL7: --
Human Gene Mutation Database (HGMD): CUL7

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CUL7

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CUL7 for disorders           About GeneDecksing

OMIM gene information: 609577
OMIM disorders: 273750
UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999

Defects in CUL7 are the cause of 3M syndrome type 1 (3M1) [MIM:273750]. An autosomal recessive disorder

characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and

normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral

bodies

11 diseases for CUL7: About MalaCards

3-m syndrome mulibrey nanism skin tag dubowitz syndrome

short stature hydrocele fanconi's anemia growth disorders

anemia choriocarcinoma glioblastoma

1 disease from the University of Copenhagen DISEASES database for CUL7:

Dubowitz Syndrome

GeneTests: CUL7

3-M Syndrome

Export disorders for CUL7 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CUL7 gene, integrated from 9 sources (see all 54):
(articles sorted by number of sources associating them with CUL7)

Utopia: connect your pdf to the dynamic
world of online information

CUL7: a DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. (PubMed id 12481031)^{1, 2, 3, 9} Dias D.C.... Pan Z.Q. (2002)
Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis. (PubMed id 12904573)^{1, 2, 3} Arai T....DeCaprio J.A. (2003)
Identification of mutations in CUL7 in 3-M syndrome. (PubMed id 16142236)^{1, 2, 9} Huber C.... Cormier-Daire V. (2005)
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. (PubMed id 21737058)^{1, 2} Hanson D.... Black G.C. (2011)
PARC and CUL7 form atypical cullin RING ligase complexes. (PubMed id 17332328)^{1, 2} Skaar J.R.... DeCaprio J.A. (2007)
The conserved CPH domains of Cul7 and PARC are protein-protein interaction modules that bind the tetramerization domain of p53. (PubMed id 17298945)^{1, 2} Kaustov L....Arrowsmith C.H. (2007)
Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function. (PubMed id 16547496)^{1, 2} Andrews P.... Xiong Y. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)^{1, 2} Nomura N....Tabata S. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9820	HGNC: 21024	AceView: CUL7	Ensembl:ENSG00000044090	euGenes: HUgn9820
ECgene: CUL7	Kegg: 9820	H-InvDB: CUL7

(According to HUGE)
About This Section

HUGE: KIAA0076

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CUL7	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CUL7

Intellectual Property for CUL7 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CUL7 gene:
Search GeneIP for patents involving CUL7

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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