CCT7 (chaperonin containing TCP1 subunit 7)

Gene

• Entrez ID: 10574
• Gene name: Chaperonin containing TCP1 subunit 7
• Gene symbol: CCT7
• Synonyms (NCBI Gene): CCTETA, CCTH, NIP7-1, TCP1ETA
• Chromosome: 2
• Chromosome location: 2p13.2
• Summary: This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777929	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030121	hsa-miR-26b-5p	Microarray	19088304
MIRT049820	hsa-miR-92a-3p	qRT-PCR	23622248
MIRT049820	hsa-miR-92a-3p	CLASH	23622248
MIRT046278	hsa-miR-23b-3p	CLASH	23622248
MIRT041059	hsa-miR-505-3p	CLASH	23622248
MIRT040484	hsa-miR-598-3p	CLASH	23622248
MIRT040174	hsa-miR-615-3p	CLASH	23622248
MIRT036986	hsa-miR-877-3p	CLASH	23622248
MIRT052763	hsa-miR-1260b	CLASH	23622248
MIRT873583	hsa-miR-1264	CLIP-seq
MIRT873584	hsa-miR-3121-3p	CLIP-seq
MIRT873585	hsa-miR-3200-5p	CLIP-seq
MIRT873586	hsa-miR-3653	CLIP-seq
MIRT873587	hsa-miR-600	CLIP-seq
MIRT873584	hsa-miR-3121-3p	CLIP-seq
MIRT873588	hsa-miR-3646	CLIP-seq
MIRT873586	hsa-miR-3653	CLIP-seq
MIRT873589	hsa-miR-3662	CLIP-seq
MIRT873590	hsa-miR-3667-3p	CLIP-seq
MIRT873591	hsa-miR-502-5p	CLIP-seq
MIRT873588	hsa-miR-3646	CLIP-seq
MIRT873586	hsa-miR-3653	CLIP-seq
MIRT873589	hsa-miR-3662	CLIP-seq
MIRT873590	hsa-miR-3667-3p	CLIP-seq
MIRT873591	hsa-miR-502-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	14532270, 25416956, 25467444, 28514442, 30021884, 31515488, 32296183, 32814053, 33144677, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9819444
GO:0005829	Component	Cytosol	TAS
GO:0005832	Component	Chaperonin-containing T-complex	IBA
GO:0005832	Component	Chaperonin-containing T-complex	IDA	23011926, 30955883
GO:0005832	Component	Chaperonin-containing T-complex	IEA
GO:0005832	Component	Chaperonin-containing T-complex	IPI	22133715
GO:0005832	Component	Chaperonin-containing T-complex	TAS	25467444
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IDA	22133715, 30955883
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	IMP	25467444
GO:0006457	Process	Protein folding	TAS	9819444
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	25467444
GO:0042802	Function	Identical protein binding	IEA
GO:0044183	Function	Protein folding chaperone	IDA	25467444, 30955883
GO:0044183	Function	Protein folding chaperone	IEA
GO:0044297	Component	Cell body	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	25467444
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	9819444
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0140662	Function	ATP-dependent protein folding chaperone	IEA
GO:1904871	Process	Positive regulation of protein localization to Cajal body	HMP	25467444
GO:1904874	Process	Positive regulation of telomerase RNA localization to Cajal body	HMP	25467444

Other IDs

• MIM: 605140
• HGNC: 1622
• e!Ensembl: ENSG00000135624

Protein

• UniProt ID: Q99832
• Protein name: T-complex protein 1 subunit eta (TCP-1-eta) (EC 3.6.1.-) (CCT-eta) (Chaperonin containing T-complex polypeptide 1 subunit 7) (HIV-1 Nef-interacting protein) [Cleaved into: T-complex protein 1 subunit eta, N-terminally processed]
• Protein function: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TR
• PDB: 6NR8, 6NR9, 6NRA, 6NRB, 6NRC, 6NRD, 6QB8, 7LUM, 7LUP, 7NVL, 7NVM, 7NVN, 7NVO, 7TRG, 7TTN, 7TTT, 7TUB, 7WU7, 7WZ3, 7X0A, 7X0S, 7X0V, 7X3J, 7X3U, 7X6Q, 7X7Y, 8HKI, 8I1U, 8I9U, 8IB8, 8SFE, 8SFF, 8SG8, 8SG9, 8SGC, 8SGL, 8SGQ, 8SH9, 8SHA, 8SHD, 8SHE, 8SHF, 8SHG, 8SHL, 8SHN, 8SHO, 8SHP, 8SHQ, 8SHT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00118	Cpn60_TCP1	32 → 524	TCP-1/cpn60 chaperonin family	Family

• Sequence:

  MMPTPVILLKEGTDSSQGIPQLVSNISACQVIAEAVRTTLGPRGMDKLIVDGRGKATISN
  DGATILKLLDVVHPAAKTLVDIAKSQDAEVGDGTTSVTLLAAEFLKQVKPYVEEGLHPQI
  IIRAFRTATQLAVNKIKEIAVTVKKADKVEQRKLLEKCAMTALSSKLISQQKAFFAKMVV
  DAVMMLDDLLQLKMIGIKKVQGGALEDSQLVAGVAFKKTFSYAGFEMQPKKYHNPKIALL
  NVELELKAEKDNAEIRVHTVEDYQAIVDAEWNILYDKLEKIHHSGAKVVLSKLPIGDVAT
  QYFADRDMFCAGRVPEEDLKRTMMACGGSIQTSVNALSADVLGRCQVFEETQIGGERYNF
  FTGCPKAKTCTFILRGGAEQFMEETERSLHDAIMIVRRAIKNDSVVAGGGAIEMELSKYL
  RDYSRTIPGKQQLLIGAYAKALEIIPRQLCDNAGFDATNILNKLRARHAQGGTWYGVDIN
  NEDIADNFEAFVWEPAMVRINALTAASEAACLIVSVDETIKNPRSTVDAPTAAGRGRGRG
  RPH

• Sequence length: 543

Pathways

Reactome:

Association of TriC/CCT with target proteins during biosynthesis
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Myocardial infarction, susceptibility to, 1	Pathogenic	rs587777929	RCV000077778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35073517	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	23292503	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	34382870	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19098285		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19098285	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	23292503	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30451371		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30451371		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations