Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

CUL7

CUL7

protein_coding 6 43,037,617 - 43,053,943 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000044090
Gene type
protein_coding
Chromosome
6
Coordinates
43,037,617 - 43,053,943
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

9820 CCDS4881 CCDS55003 ENST00000265348.9 KIAA0076 KIAA0076 NM_014780 NM_014780.5 Q14999 dJ20C7.5

Summary

GENCODE gene_type=protein_coding; HGNC symbol=CUL7; HGNC name=cullin 7; alias_count=9; RefSeq=NM_014780; UniProt=Q14999; MANE Select=ENST00000265348.9,NM_014780.5

Source: GENCODE + HGNC complete set

9820 • protein-coding

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]

NCBI Gene

UniProt

Q14999 • reviewed

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:35982156). Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity (PubMed:21572988, PubMed:21737058, PubMed:24793695). It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695). The Cul7-RING(FBXW8) complex alone lacks ubiquitination activity and does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328, PubMed:35982156). However it mediates recruitment of p53/TP53 for ubiquitination by neddylated CUL1-RBX1 (PubMed:35982156). Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696). The Cul7-RING(FBXW8) complex also mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026). Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075). While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may have additional functions. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation

Cullin-7 · Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, perinuclear region; Golgi apparatus

Q14999 • reviewed

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:35982156). Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity (PubMed:21572988, PubMed:21737058, PubMed:24793695). It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695). The Cul7-RING(FBXW8) complex alone lacks ubiquitination activity and does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328, PubMed:35982156). However it mediates recruitment of p53/TP53 for ubiquitination by neddylated CUL1-RBX1 (PubMed:35982156). Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696). The Cul7-RING(FBXW8) complex also mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026). Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075). While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may have additional functions. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation

Cullin-7 · Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, perinuclear region; Golgi apparatus

GO annotations

Biological process
  • GO:0007030 Golgi organization (ISS)
  • GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (NAS)
  • GO:0001837 epithelial to mesenchymal transition (IDA)
  • GO:0000226 microtubule cytoskeleton organization (IEA)
  • GO:0000226 microtubule cytoskeleton organization (IMP)
  • GO:0000226 microtubule cytoskeleton organization (NAS)
  • GO:0000281 mitotic cytokinesis (IMP)
  • GO:0046627 negative regulation of insulin receptor signaling pathway (IDA)
  • GO:0001890 placenta development (IDA)
  • GO:0050775 positive regulation of dendrite morphogenesis (ISS)

+ 14 more

Cellular component
  • GO:1990393 3M complex (IDA)
  • GO:1990393 3M complex (IDA)
  • GO:1990393 3M complex (IPI)
  • GO:1990393 3M complex (IBA)
  • GO:0031467 Cul7-RING ubiquitin ligase complex (IEA)
  • GO:0031467 Cul7-RING ubiquitin ligase complex (IDA)
  • GO:0031467 Cul7-RING ubiquitin ligase complex (IDA)
  • GO:0031467 Cul7-RING ubiquitin ligase complex (IDA)
  • GO:0031467 Cul7-RING ubiquitin ligase complex (IBA)
  • GO:0005794 Golgi apparatus (IEA)

+ 15 more

Molecular function
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

+ 10 more

Representative

Representative transcript
ENST00000265348
Representative protein
ENSP00000265348.4
Representative type
CCDS
Candidate count
9

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000265348 CUL7-201 protein_coding not available ENSP00000265348.4 6:43,037,617 - 43,053,851 -
ENST00000674100 CUL7-205 protein_coding not available ENSP00000501292.1 6:43,037,617 - 43,053,943 -
ENST00000674134 CUL7-207 protein_coding not available ENSP00000501068.1 6:43,037,617 - 43,053,890 -
ENST00000690231 CUL7-218 protein_coding not available ENSP00000508461.1 6:43,037,617 - 43,053,902 -
ENST00000857866 CUL7-220 protein_coding not available ENSP00000527925.1 6:43,037,617 - 43,053,943 -
ENST00000857867 CUL7-221 protein_coding not available ENSP00000527926.1 6:43,037,617 - 43,053,902 -
ENST00000930001 CUL7-222 protein_coding not available ENSP00000600060.1 6:43,037,617 - 43,053,902 -
ENST00000930002 CUL7-223 protein_coding not available ENSP00000600061.1 6:43,037,617 - 43,053,632 -
ENST00000952316 CUL7-224 protein_coding not available ENSP00000622375.1 6:43,037,617 - 43,053,943 -
ENST00000952317 CUL7-225 protein_coding not available ENSP00000622376.1 6:43,037,617 - 43,053,943 -
ENST00000952318 CUL7-226 protein_coding not available ENSP00000622377.1 6:43,037,617 - 43,053,943 -
ENST00000952319 CUL7-227 protein_coding not available ENSP00000622378.1 6:43,037,617 - 43,053,943 -
ENST00001066573 CUL7-235 nonsense_mediated_decay not available ENSP00000736379.1 6:43,037,617 - 43,053,921 -
ENST00001066574 CUL7-236 nonsense_mediated_decay not available ENSP00000736380.1 6:43,037,617 - 43,053,856 -
ENST00001136821 CUL7-237 protein_coding not available ENSP00000803746.1 6:43,037,617 - 43,053,943 -
ENST00000692002 CUL7-219 protein_coding not available ENSP00000508567.1 6:43,037,618 - 43,040,565 -
ENST00000993800 CUL7-228 nonsense_mediated_decay not available ENSP00000663617.1 6:43,037,618 - 43,053,804 -
ENST00001013852 CUL7-230 nonsense_mediated_decay not available ENSP00000683669.1 6:43,037,620 - 43,053,881 -
ENST00000685042 CUL7-212 nonsense_mediated_decay not available ENSP00000509871.1 6:43,037,631 - 43,053,896 -
ENST00000689256 CUL7-217 retained_intron not available not available 6:43,037,631 - 43,053,816 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.