RBCC Red Blood Cell Collection

CUL4B_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CUL4B , KIAA0695
Protein names and data: CUL4B_HUMAN , Cullin-4B; CUL-4B Lenght: 913 a.a.
Mass: 103982 Da
fasta formatted sequence
Function: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation- induced DNA damage. Targeted to UV damaged chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E, and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 300304 300354 ) Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]: A syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus.

Genetic variants

103 - 103 L -> P (in dbSNP:rs61759504). VAR_032272 61759504
213 - 213 T -> I (in MRXS15; uncertain pathological significance). VAR_032273
572 - 572 R -> C (in MRXS15). VAR_032274
745 - 745 V -> A (in MRXS15). VAR_032275

Database cross-references

UniProt: Q13620
Ensembl: ENST00000371322
Ensembl: ENST00000404115
MIM: 300304
MIM: 300354
neXtProt: NX_Q13620
Antibodypedia: Q13620 (may not find the protein thus also not any antibody)
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