Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	91875
Gene name	Tetratricopeptide repeat domain 5
Gene symbol	TTC5
Synonyms (NCBI Gene)	NEDCAFDStrap
Chromosome	14
Chromosome location	14q11.2

66 Show/Hide all (66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049643	hsa-miR-92a-3p	CLASH	23622248
MIRT1461788	hsa-miR-200b	CLIP-seq
MIRT1461789	hsa-miR-200c	CLIP-seq
MIRT1461790	hsa-miR-3125	CLIP-seq
MIRT1461791	hsa-miR-3545-3p	CLIP-seq
MIRT1461792	hsa-miR-3908	CLIP-seq
MIRT1461793	hsa-miR-3916	CLIP-seq
MIRT1461794	hsa-miR-3942-5p	CLIP-seq
MIRT1461795	hsa-miR-429	CLIP-seq
MIRT1461796	hsa-miR-4476	CLIP-seq
MIRT1461797	hsa-miR-4533	CLIP-seq
MIRT1461798	hsa-miR-4539	CLIP-seq
MIRT1461799	hsa-miR-4703-5p	CLIP-seq
MIRT1461800	hsa-miR-4724-5p	CLIP-seq
MIRT1461801	hsa-miR-4766-3p	CLIP-seq
MIRT1461802	hsa-miR-561	CLIP-seq
MIRT2359606	hsa-miR-34b	CLIP-seq
MIRT2359607	hsa-miR-370	CLIP-seq
MIRT2359608	hsa-miR-4691-5p	CLIP-seq
MIRT2359609	hsa-miR-543	CLIP-seq
MIRT2652973	hsa-miR-2110	CLIP-seq
MIRT2652974	hsa-miR-2467-5p	CLIP-seq
MIRT2652975	hsa-miR-31	CLIP-seq
MIRT2652976	hsa-miR-3144-5p	CLIP-seq
MIRT2652977	hsa-miR-3150a-3p	CLIP-seq
MIRT2652978	hsa-miR-3173-3p	CLIP-seq
MIRT2652979	hsa-miR-3188	CLIP-seq
MIRT2652980	hsa-miR-3189-3p	CLIP-seq
MIRT2652981	hsa-miR-3191	CLIP-seq
MIRT2652982	hsa-miR-3612	CLIP-seq
MIRT2652983	hsa-miR-3664-5p	CLIP-seq
MIRT2652984	hsa-miR-376c	CLIP-seq
MIRT2652985	hsa-miR-3914	CLIP-seq
MIRT2652986	hsa-miR-3975	CLIP-seq
MIRT2652987	hsa-miR-3976	CLIP-seq
MIRT1461796	hsa-miR-4476	CLIP-seq
MIRT2652988	hsa-miR-4522	CLIP-seq
MIRT1461797	hsa-miR-4533	CLIP-seq
MIRT2652989	hsa-miR-4652-5p	CLIP-seq
MIRT2652990	hsa-miR-4695-5p	CLIP-seq
MIRT2652991	hsa-miR-4720-3p	CLIP-seq
MIRT2652992	hsa-miR-4733-5p	CLIP-seq
MIRT2652993	hsa-miR-4804-3p	CLIP-seq
MIRT2652994	hsa-miR-485-5p	CLIP-seq
MIRT2652995	hsa-miR-650	CLIP-seq
MIRT2652996	hsa-miR-873	CLIP-seq
MIRT2652973	hsa-miR-2110	CLIP-seq
MIRT2652974	hsa-miR-2467-5p	CLIP-seq
MIRT2652976	hsa-miR-3144-5p	CLIP-seq
MIRT2652977	hsa-miR-3150a-3p	CLIP-seq
MIRT2652978	hsa-miR-3173-3p	CLIP-seq
MIRT2652979	hsa-miR-3188	CLIP-seq
MIRT2652980	hsa-miR-3189-3p	CLIP-seq
MIRT2652981	hsa-miR-3191	CLIP-seq
MIRT2652982	hsa-miR-3612	CLIP-seq
MIRT2652983	hsa-miR-3664-5p	CLIP-seq
MIRT2652985	hsa-miR-3914	CLIP-seq
MIRT2652986	hsa-miR-3975	CLIP-seq
MIRT1461796	hsa-miR-4476	CLIP-seq
MIRT2652988	hsa-miR-4522	CLIP-seq
MIRT1461797	hsa-miR-4533	CLIP-seq
MIRT2652989	hsa-miR-4652-5p	CLIP-seq
MIRT2652990	hsa-miR-4695-5p	CLIP-seq
MIRT2652994	hsa-miR-485-5p	CLIP-seq
MIRT2652995	hsa-miR-650	CLIP-seq
MIRT2652996	hsa-miR-873	CLIP-seq

25 Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA	31727855
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	ISS
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009267	Process	Cellular response to starvation	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0043022	Function	Ribosome binding	IMP	31727855
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0051254	Process	Positive regulation of RNA metabolic process	IEA
GO:0061014	Process	Positive regulation of mRNA catabolic process	IMP	31727855

MIM	HGNC	e!Ensembl
619014	19274	ENSG00000136319

Q8N0Z6

Protein name

Tetratricopeptide repeat protein 5 (TPR repeat protein 5) (Stress-responsive activator of p300) (Protein Strap)

Protein function

Cofactor involved in the regulation of various cellular mechanisms such as actin regulation, autophagy, chromatin regulation and DNA repair (PubMed:18451878, PubMed:31727855). In non-stress conditions, interacts with cofactor JMY in the cytoplas

PDB

2XVS , 6T59 , 7QWS , 8BPO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16669	TTC5_OB	318 → 432	Tetratricopeptide repeat protein 5 OB fold domain	Domain

Sequence

MMADEEEEVKPILQKLQELVDQLYSFRDCYFETHSVEDAGRKQQDVQKEMEKTLQQMEEV
VGSVQGKAQVLMLTGKALNVTPDYSPKAEELLSKAVKLEPELVEAWNQLGEVYWKKGDVA
AAHTCFSGALTHCRNKVSLQNLSMVLRQLRTDTEDEHSHHVMDSVRQAKLAVQMDVHDGR
SWYILGNSYLSLYFSTGQNPKISQQALSAYAQAEKVDRKASSNPDLHLNRATLHKYEESY
GEALEGFSRAAALDPAWPEPRQREQQLLEFLDRLTSLLESKGKVKTKKLQSMLGSLRPAH
LGPCSDGHYQSASGQKVTLELKPLSTLQPGVNSGAVILGKVVFSLTTEEKVPFTFGLVDS
DGPCYAVMVYNIVQSWGVLIGDSVAIPEPNLRLHRIQHKGKDYSFSSVRVETPLLLVVNG
KPQGSSSQAVATVASRPQCE

Sequence length

440

Interactions

View interactions

Reactome Pathway
Regulation of TP53 Activity through Methylation

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	Pathogenic; Likely pathogenic	rs2138814108, rs1444869298, rs2138814053, rs199831317, rs749799203, rs552581393	RCV001353186 RCV001353187 RCV001353188 RCV001353190 RCV001353191 RCV003986037 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	32439809, 32439809	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	31488892	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	31488892	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	36411363	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TTC5-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Atrophy	Atrophy	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32439809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32439809, 35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23559008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34947995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34947995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31648166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome Type ID	Usher syndrome	Pubtator	35670379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TTC5 (tetratricopeptide repeat domain 5)

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