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  2. CUL7 - cullin 7 Gene

CUL7 - cullin 7 Gene

Homo sapiens

Also known as 3M1; CUL-7; KIAA0076; dJ20C7.5

Gene ID: 9820 | Gene type: protein coding

About CUL7

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,037,617-43,053,851 (from NCBI)

This gene has 19 transcripts (splice variants), 243 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.9) and 25 other tissues.

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 different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

CUL7 Products(5)

mRNA Protein Name
NM_001168370.2 NP_001161842.2 cullin-7 isoform 1
NM_001374872.1 NP_001361801.1 cullin-7 isoform 1
NM_001374873.1 NP_001361802.1 cullin-7 isoform 3
NM_001374874.1 NP_001361803.1 cullin-7 isoform 4
NM_014780.5 NP_055595.2 cullin-7 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17298945 GOA
Biological Process GO Annotation Evidence Reference Source
involved in epithelial to mesenchymal transition IDA
IDA: Inferred from direct assay
20139075 GOA
involved in microtubule cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
24793695 GOA
involved in mitotic cytokinesis IMP
IMP: Inferred from mutant phenotype
24793695 GOA
involved in placenta development IDA
IDA: Inferred from direct assay
20139075 GOA
involved in positive regulation of dendrite morphogenesis IGI
IGI: Inferred from genetic interaction
21572988 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
18498745 GOA
involved in regulation of mitotic nuclear division IMP
IMP: Inferred from mutant phenotype
24793695 GOA
Cellular Component GO Annotation Evidence Reference Source
part of 3M complex IDA
IDA: Inferred from direct assay
24793695 GOA
part of Cul7-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
18498745 GOA
located in Golgi apparatus IDA
IDA: Inferred from direct assay
21572988 GOA
located in centrosome IDA
IDA: Inferred from direct assay
24793695 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
24793695 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
21572988 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CUL7 Protein Structure

Cul7

Cul7: Mouse development and cellular proliferation protein Cullin-7 (360 - 434)

ANAPC10

ANAPC10: Anaphase-promoting complex, subunit 10 (APC10) (853 - 972)

Cullin

Cullin: Cullin family (1144 - 1538)

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  • 1698 a.a.
Protein Preferred Names Protein Names

cullin-7

Related Diseases

Diseases Alias
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Shox-Related Short Stature

Idiopathic Familial Short Stature

Osteogenesis Imperfecta, Type Xiv

Osteogenesis Imperfecta Type 14

OI14

Osteogenesis Imperfecta Type Xiv

Oi, Type Xiv

Osteogenesis Imperfecta 14

Oi Type Xiv

Oi-Xiv

Chondrodysplasia, Blomstrand Type

Chondrodysplasia Blomstrand Type

BOCD

Blomstrand Lethal Chondrodysplasia

Blomstrand Lethal Osteochondrodysplasia

Blomstrand'S Lethal Chondrodysplasia

Blc

Blomstrand Chondrodysplasia

Blomstrand Osteochondrodysplasia

Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Dubowitz Syndrome

Dubowitz'S Syndrome

Dwarfism-Eczema-Peculiar Facies Syndrome

Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CUL7 RGD RGD:1587048
Canis familiaris CUL7 VGNC VGNC:39734
Macaca mulatta CUL7 VGNC VGNC:71446
Mus musculus CUL7 MGD MGI:1913765
Bos taurus CUL7 VGNC VGNC:27835
Felis catus CUL7 VGNC VGNC:61287