Cullin 7

Alternative Names

  • CUL7
  • KIAA0076

Associated Diseases

Three M Syndrome 1
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OMIM Number

609577

NCBI Gene ID

9820

Uniprot ID

Q14999

Length

16,329 bases

No. of Exons

27

No. of isoforms

2

Protein Name

Cullin-7

Molecular Mass

191161 Da

Amino Acid Count

1698

Genomic Location

chr6:43,037,617-43,053,945

Gene Map Locus
6p21.1

Description

CUL7  gene encodes for a component of SCF-like E3 ubiquitin-protein ligase complex, which interacts with TP53, CUL9, and FBXW8 proteins. Such complexes usually mediate the ubiquitination and subsequent proteasomal degradation of target proteins. In the case of CUL7, target proteins are likely to be involved in endothelial proliferation and/or differentiation. In fact CUL7  was found to be involved in chondrocyte growth and proliferation. CUL7 protein has a central DOC domain and a C-terminal cullin domain, in addition to these a 72-amino acid domain enriched in glycine and acidic residues is located at the N-terminus of CUL7. The latter also contains an ATP/GTP-binding site motif A and motifs found in mitochondrial energy transfer proteins. CUL7 is usually expressed in a wide range of tissues and cell lines except testis and small intestine.

CUL7  mutations can lead to reduced cell mitosis during the early gestation period and consequently retarded growth, which is the central feature of the 3M syndrome-1. These mutations may disrupt the ability of CUL7 to assemble the components of the ubiquitin-proteasome system. Therefore, impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001168370.2:c.203G>AJordan; Omanchr6:43052586PathogenicThree M Syndrome 1NG_016205.1:g.6360G>A; NM_001168370.2:c.203G>A; NP_001161842.2:p.Trp68Ter
NM_001168370.2:c.263delUnited Arab EmiratesNC_000006.12:g.43052526delLikely PathogenicPathogenicThree M Syndrome 1NG_016205.1:g.6420del; NM_001168370.2:c.263del; NP_001361802.1:p.Val88fs786205651191331
NM_014780.5:c.1144C>TSaudi ArabiaNC_000006.12:g.43051057G>APathogenicPathogenicThree M Syndrome 1NG_016205.1:g.7889C>T; NM_014780.5:c.1144C>T; NP_055595.2:p.Arg382Ter1023630527800989
NM_014780.5:c.263delSaudi ArabiaNC_000006.12:g.43052526delLikely PathogenicPathogenicThree M Syndrome 1NG_016205.1:g.6420del; NM_014780.5:c.263del; NP_055595.2:p.Val88AlafsTer27786205651191331
NM_014780.5:c.2863-1G>CSaudi ArabiaNC_000006.12:g.43045403C>GPathogenicThree M Syndrome 1NG_016205.1:g.13543G>C; NM_014780.5:c.2863-1G>C
NM_014780.5:c.2988G>ASaudi ArabiaNC_000006.12:g.43045277C>TPathogenicPathogenicThree M Syndrome 1NG_016205.1:g.13669G>A; NM_014780.5:c.2988G>A; NP_055595.2:p.Trp996Ter1581930130828132
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