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Aliases for CCT4 Gene

Aliases for CCT4 Gene

  • Chaperonin Containing TCP1 Subunit 4 2 3 5
  • Chaperonin Containing TCP1, Subunit 4 (Delta) 2 3
  • Stimulator Of TAR RNA-Binding 3 4
  • TCP-1-Delta 3 4
  • CCT-DELTA 3 4
  • Cctd 3 4
  • SRB 3 4
  • Chaperonin Containing T-Complex Polypeptide 1, Delta Subunit 3
  • T-Complex Protein 1 Subunit Delta 3

External Ids for CCT4 Gene

Previous GeneCards Identifiers for CCT4 Gene

  • GC02M062223
  • GC02M062281
  • GC02M062052
  • GC02M062070
  • GC02M062069
  • GC02M062006
  • GC02M062095

Summaries for CCT4 Gene

Entrez Gene Summary for CCT4 Gene

  • The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CCT4 Gene

CCT4 (Chaperonin Containing TCP1 Subunit 4) is a Protein Coding gene. Diseases associated with CCT4 include Mental Retardation, X-Linked, Snyder-Robinson Type. Among its related pathways are Chaperonin-mediated protein folding and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and unfolded protein binding.

UniProtKB/Swiss-Prot for CCT4 Gene

  • Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin.

Gene Wiki entry for CCT4 Gene

Additional gene information for CCT4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCT4 Gene

Genomics for CCT4 Gene

Regulatory Elements for CCT4 Gene

Enhancers for CCT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H061534 1.7 FANTOM5 ENCODE dbSUPER 48.6 +351.4 351414 5 HNRNPUL1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CCT4 USP34 XPO1 LOC339803 AHSA2 REL ENSG00000232713 PAPOLG ENSG00000236498 LOC105377633
GH02H061016 1.4 ENCODE dbSUPER 41.2 +870.9 870906 4 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 USP34 CCT4 AHSA2 PAPOLG XPO1 ENSG00000236498 ENSG00000232713 PUS10 NONOP2 PEX13
GH02H062704 1.3 ENCODE dbSUPER 27.5 -817.4 -817395 3 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 CCT4 OTX1 ENSG00000226622 EHBP1 ENSG00000252436
GH02H061853 1.1 ENCODE 25 +34.3 34310 2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS CCT4 USP34 XPO1 FAM161A PEX13 PIR42567
GH02H062409 1.2 Ensembl ENCODE 20.9 -522.4 -522405 3 HDGF PKNOX1 FEZF1 DNMT3B ZNF2 THRB RAD21 ZEB1 ZNF366 ZNF143 CCT4 COMMD1 USP34 TMEM17 GC02M062385 ENSG00000228541
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCT4 on UCSC Golden Path with GeneCards custom track

Promoters for CCT4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117696 504 2201 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Location for CCT4 Gene

Chromosome:
2
Start:
61,868,089 bp from pter
End:
61,888,804 bp from pter
Size:
20,716 bases
Orientation:
Minus strand

Genomic View for CCT4 Gene

Genes around CCT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCT4 Gene

Proteins for CCT4 Gene

  • Protein details for CCT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50991-TCPD_HUMAN
    Recommended name:
    T-complex protein 1 subunit delta
    Protein Accession:
    P50991
    Secondary Accessions:
    • B2R6I3
    • B7Z8B1
    • F5H5W3
    • O14870
    • Q53QP9
    • Q96C51

    Protein attributes for CCT4 Gene

    Size:
    539 amino acids
    Molecular mass:
    57924 Da
    Quaternary structure:
    • Heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Interacts with PACRG. Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with DNAAF4 (By similarity).

    Alternative splice isoforms for CCT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCT4 Gene

Post-translational modifications for CCT4 Gene

  • Ubiquitination at posLast=4242, posLast=5555, Lys65, Lys79, posLast=126126, Lys139, posLast=213213, Lys489, and posLast=531531
  • Modification sites at PhosphoSitePlus

Other Protein References for CCT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCT4 Gene

Domains & Families for CCT4 Gene

Gene Families for CCT4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P50991

UniProtKB/Swiss-Prot:

TCPD_HUMAN :
  • Belongs to the TCP-1 chaperonin family.
Family:
  • Belongs to the TCP-1 chaperonin family.
genes like me logo Genes that share domains with CCT4: view

Function for CCT4 Gene

Molecular function for CCT4 Gene

GENATLAS Biochemistry:
chaperonin containing TCP1 (T complex protein 1) subunit 4 (delta),cytosolic,TF55/TCP-1 family,required for the maturation of cyclin E
UniProtKB/Swiss-Prot Function:
Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin.

Phenotypes From GWAS Catalog for CCT4 Gene

Gene Ontology (GO) - Molecular Function for CCT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 24846140
GO:0005524 ATP binding IEA --
GO:0044183 protein binding involved in protein folding IBA --
GO:0051082 unfolded protein binding IBA --
genes like me logo Genes that share ontologies with CCT4: view
genes like me logo Genes that share phenotypes with CCT4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCT4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCT4 Gene

Localization for CCT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCT4 Gene

Cytoplasm. Melanosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCT4 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002199 zona pellucida receptor complex IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20080638
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CCT4: view

Pathways & Interactions for CCT4 Gene

genes like me logo Genes that share pathways with CCT4: view

Gene Ontology (GO) - Biological Process for CCT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006458 de novo protein folding IBA --
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0032212 positive regulation of telomere maintenance via telomerase IMP 25467444
GO:0050821 protein stabilization IMP 25467444
genes like me logo Genes that share ontologies with CCT4: view

No data available for SIGNOR curated interactions for CCT4 Gene

Drugs & Compounds for CCT4 Gene

No Compound Related Data Available

Transcripts for CCT4 Gene

Unigene Clusters for CCT4 Gene

Chaperonin containing TCP1, subunit 4 (delta):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCT4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCT4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - - -
SP6:

Relevant External Links for CCT4 Gene

GeneLoc Exon Structure for
CCT4
ECgene alternative splicing isoforms for
CCT4

Expression for CCT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCT4 Gene



Protein tissue co-expression partners for CCT4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCT4 Gene:

CCT4

SOURCE GeneReport for Unigene cluster for CCT4 Gene:

Hs.421509

Evidence on tissue expression from TISSUES for CCT4 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Blood(4.4)
  • Lung(4.2)
  • Intestine(3.4)
  • Skin(3.4)
  • Eye(3.3)
  • Kidney(2.8)
  • Heart(2.4)
  • Bone(2.2)
genes like me logo Genes that share expression patterns with CCT4: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCT4 Gene

Orthologs for CCT4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCT4 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CCT4 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia CCT4 33 34
  • 93.26 (n)
oppossum
(Monodelphis domestica)
Mammalia CCT4 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCT4 33 34
  • 92.95 (n)
mouse
(Mus musculus)
Mammalia Cct4 33 16 34
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Cct4 33
  • 89.86 (n)
chicken
(Gallus gallus)
Aves CCT4 33 34
  • 79.54 (n)
lizard
(Anolis carolinensis)
Reptilia CCT4 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cct4 33
  • 78.91 (n)
Str.2717 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398959 33
zebrafish
(Danio rerio)
Actinopterygii cct4 33 34
  • 74.61 (n)
zgc65789 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1747 33
fruit fly
(Drosophila melanogaster)
Insecta CG5525 35 33 34
  • 63.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009505 33
  • 63.75 (n)
worm
(Caenorhabditis elegans)
Secernentea cct-4 35 33 34
  • 61.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT4 33 34
  • 60.61 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05005g 33
  • 59.86 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR083W 33
  • 57.13 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G18190 33
  • 62.65 (n)
soybean
(Glycine max)
eudicotyledons Gma.5713 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10395 33
rice
(Oryza sativa)
Liliopsida Os02g0332200 33
  • 59.22 (n)
Os.9114 33
barley
(Hordeum vulgare)
Liliopsida Hv.2601 33
wheat
(Triticum aestivum)
Liliopsida Ta.1648 33
corn
(Zea mays)
Liliopsida Zm.6601 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.45 34
  • 69 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cct4 33
  • 62.46 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02839 33
  • 58.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12186 33
Species where no ortholog for CCT4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CCT4 Gene

ENSEMBL:
Gene Tree for CCT4 (if available)
TreeFam:
Gene Tree for CCT4 (if available)

Paralogs for CCT4 Gene

(8) SIMAP similar genes for CCT4 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CCT4 Gene

genes like me logo Genes that share paralogs with CCT4: view

No data available for Paralogs for CCT4 Gene

Variants for CCT4 Gene

Sequence variations from dbSNP and Humsavar for CCT4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000014408 -- 61,876,573(+) GGTCC(C/T)ACTAT intron-variant
rs1000021224 -- 61,880,978(+) CTTCA(A/G)CCTCC intron-variant
rs1000023325 -- 61,885,955(+) TGCTC(A/G)ATTTA intron-variant
rs1000070995 -- 61,882,805(+) TGTGC(C/T)CAGCT intron-variant
rs1000089758 -- 61,886,663(+) TGTTT(C/G)AGTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCT4 Gene

Variant ID Type Subtype PubMed ID
esv2657259 CNV deletion 23128226
esv2720131 CNV deletion 23290073
esv34000 CNV loss 18971310
esv3591026 CNV loss 21293372
nsv1009446 CNV gain 25217958
nsv458074 CNV gain 19166990
nsv470467 CNV gain 18288195
nsv582118 CNV gain 21841781
nsv582122 CNV gain 21841781
nsv582123 CNV gain 21841781
nsv7313 OTHER inversion 18451855

Variation tolerance for CCT4 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCT4 Gene

Disorders for CCT4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCT4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mental retardation, x-linked, snyder-robinson type
  • syndromic x-linked intellectual disability snyder type
- elite association - COSMIC cancer census association via MalaCards
Search CCT4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CCT4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCT4
genes like me logo Genes that share disorders with CCT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCT4 Gene

Publications for CCT4 Gene

  1. Maturation of human cyclin E requires the function of eukaryotic chaperonin CCT. (PMID: 9819444) Won KA … Reed SI (Molecular and cellular biology 1998) 2 3 4 60
  2. Identification of a group of cellular cofactors that stimulate the binding of RNA polymerase II and TRP-185 to human immunodeficiency virus 1 TAR RNA. (PMID: 8626763) Wu-Baer F … Gaynor RB (The Journal of biological chemistry 1996) 3 4 22 60
  3. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S … Sheffield VC (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 60
  4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4 60
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60

Products for CCT4 Gene

Sources for CCT4 Gene

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