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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
  • SRB 3 4
  • Chaperonin Containing T-Complex Polypeptide 1, Delta Subunit 3
  • T-Complex Protein 1 Subunit Delta 3
  • CCT-DELTA 3
  • CCT-Delta 4
  • Cctd 3
  • CCTD 4

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 Syndromic X-Linked Intellectual Disability Snyder Type. Among its related pathways are Organelle biogenesis and maintenance and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Gene Ontology (GO) annotations related to this gene include 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

GeneHancer (GH) Regulatory Elements for CCT4 Gene

Promoters and enhancers for CCT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J061886 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 668.5 +0.5 501 3.5 MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC CCT4 COMMD1 AHSA2P ENSG00000236498 ENSG00000232713 ENSG00000273302 USP34 XPO1 NONOP2 PUS10
GH02J061534 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 48.6 +351.4 351414 5.2 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 XPO1 CCT4 USP34 REL ENSG00000232713 AHSA2P LOC339803 NONOP2 PAPOLG ENSG00000236498
GH02J061015 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 41.2 +870.9 870906 4.4 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PUS10 PEX13 AHSA2P PAPOLG ENSG00000236498 USP34 CCT4 ENSG00000232713 XPO1 NONOP2
GH02J062704 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.5 -817.4 -817395 3.7 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 EHBP1 CCT4 OTX1 ENSG00000226622 ENSG00000252436
GH02J061853 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 25 +34.3 34332 2.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 E2F8 ZNF207 FAM161A CCT4 USP34 NONOP2 ENSG00000232713 REL XPO1 AHSA2P PEX13 PIR42567
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCT4 gene promoter:
  • TBP
  • TFIID
  • PPAR-gamma2
  • PPAR-gamma1
  • AP-1
  • C/EBPbeta
  • GATA-1
  • STAT1beta

Genomic Locations for CCT4 Gene

Genomic Locations for CCT4 Gene
chr2:61,868,089-61,888,804
(GRCh38/hg38)
Size:
20,716 bases
Orientation:
Minus strand
chr2:62,095,224-62,115,939
(GRCh37/hg19)
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 Lys531, posLast=489489, Lys213, posLast=139139, posLast=126126, Lys79, Lys65, posLast=5555, and Lys42
  • 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

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.
GENATLAS Biochemistry:
chaperonin containing TCP1 (T complex protein 1) subunit 4 (delta),cytosolic,TF55/TCP-1 family,required for the maturation of cyclin E

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 HDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCT4

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

mRNA/cDNA for CCT4 Gene

Unigene Clusters for CCT4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCT4

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, 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

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 34 33
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCT4 34 33
  • 93.26 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCT4 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCT4 34 33
  • 92.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cct4 16 34 33
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Cct4 33
  • 89.86 (n)
chicken
(Gallus gallus)
Aves CCT4 34 33
  • 79.54 (n)
OneToOne
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 34 33
  • 74.61 (n)
OneToOne
zgc65789 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1747 33
fruit fly
(Drosophila melanogaster)
Insecta CG5525 34 35 33
  • 63.75 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009505 33
  • 63.75 (n)
worm
(Caenorhabditis elegans)
Secernentea cct-4 34 35 33
  • 61.53 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT4 34 33
  • 60.61 (n)
OneToOne
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
corn
(Zea mays)
Liliopsida Zm.6601 33
wheat
(Triticum aestivum)
Liliopsida Ta.1648 33
barley
(Hordeum vulgare)
Liliopsida Hv.2601 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.45 34
  • 69 (a)
OneToOne
Cin.12186 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for CCT4: view image

Paralogs for CCT4 Gene

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

  • TCPD_HUMAN
  • B7Z2F4_HUMAN
  • B7Z9L0_HUMAN

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 Variation AA Info Type
rs1000014408 -- 61,876,573(-) C/T intron_variant
rs1000021224 -- 61,880,978(-) G/A intron_variant
rs1000023325 -- 61,885,955(-) A/C/G intron_variant
rs1000070995 -- 61,882,805(-) C/T intron_variant
rs1000089758 -- 61,886,663(-) C/G 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)

Additional Variant Information for CCT4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

- elite association - COSMIC cancer census association via MalaCards
Search CCT4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 58
  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 58
  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 58
  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 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for CCT4 Gene

Sources for CCT4 Gene

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