TTC5 tetratricopeptide repeat domain 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTC5provided by HGNC
Official Full Name: tetratricopeptide repeat domain 5provided by HGNC
Primary source: HGNC:HGNC:19274
See related: Ensembl:ENSG00000136319 MIM:619014; AllianceGenome:HGNC:19274
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Strap; NEDCAFD
Summary: Predicted to enable DNA binding activity and chromatin binding activity. Predicted to be involved in DNA repair. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (20286227..20305951, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (14483002..14502708, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (20754386..20774110, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Title: TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Evaluation of the Role of p53 Tumour Suppressor Posttranslational Modifications and TTC5 Cofactor in Lung Cancer.
Title: Evaluation of the Role of p53 Tumour Suppressor Posttranslational Modifications and TTC5 Cofactor in Lung Cancer.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Title: Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
TRIP13 interference inhibited the proliferation and metastasis of thyroid cancer cells through regulating TTC5/p53 pathway and epithelial-mesenchymal transition related genes expression.
Title: TRIP13 interference inhibits the proliferation and metastasis of thyroid cancer cells through regulating TTC5/p53 pathway and epithelial-mesenchymal transition related genes expression.
this study identified tetratricopeptide protein 5 (TTC5) as a tubulin-specific ribosome-associating factor that triggers cotranslational degradation of tubulin mRNAs in response to excess soluble tubulin.
Title: TTC5 mediates autoregulation of tubulin via mRNA degradation.
Human TTC5, a novel tetratricopeptide repeat domain containing gene, activates p53 and inhibits AP-1 pathway.
Title: Human TTC5, a novel tetratricopeptide repeat domain containing gene, activates p53 and inhibits AP-1 pathway.
TTC5 and EP300 cooperate to prevent excessive accumulation of MYC in AML cells and their sensitization to cell death.
Title: TTC5 is required to prevent apoptosis of acute myeloid leukemia stem cells.
TTC5 is a novel cofactor regulating GR function in a stress-dependent manner.
Title: Regulation of glucocorticoid receptor activity by a stress responsive transcriptional cofactor.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism MedGen: C5543228 OMIM: 619244 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-153640 (e-PCR)
- UniSTS:177860

WI-18343 (e-PCR)
- UniSTS:20980

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in cellular response to starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tetratricopeptide repeat protein 5

Names: TPR repeat protein 5; protein Strap; stress-responsive activator of p300

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_138376.3 → NP_612385.2 tetratricopeptide repeat protein 5

See identical proteins and their annotated locations for NP_612385.2

Status: VALIDATED

Source sequence(s)

AL356019, BC030822, BM998414, BX248066, DB051711

Consensus CDS

CCDS9546.1

UniProtKB/Swiss-Prot

A8MQ18, Q8N0Z6, Q96HF9

UniProtKB/TrEMBL

Q86T04

Related

ENSP00000258821.3, ENST00000258821.8

Conserved Domains (3) summary

COG0457
Location:38 → 279

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:68 → 97

TPR; TPR repeat [structural motif]

pfam16669
Location:318 → 432

TTC5_OB; Tetratricopeptide repeat protein 5 OB fold domain