TTC5

Protein identityUniProt · HPA

UniProt accession

Q8N0Z6

Gene

TTC5

Ensembl

ENSG00000136319

Chromosome

14

Canonical length

440 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

Enables ribosome binding activity. Involved in positive regulation of mRNA catabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

440 residues, UniProt reviewed canonical sequence.

>Q8N0Z6|TTC5
     1  MMADEEEEVK PILQKLQELV DQLYSFRDCY FETHSVEDAG RKQQDVQKEM EKTLQQMEEV
    61  VGSVQGKAQV LMLTGKALNV TPDYSPKAEE LLSKAVKLEP ELVEAWNQLG EVYWKKGDVA
   121  AAHTCFSGAL THCRNKVSLQ NLSMVLRQLR TDTEDEHSHH VMDSVRQAKL AVQMDVHDGR
   181  SWYILGNSYL SLYFSTGQNP KISQQALSAY AQAEKVDRKA SSNPDLHLNR ATLHKYEESY
   241  GEALEGFSRA AALDPAWPEP RQREQQLLEF LDRLTSLLES KGKVKTKKLQ SMLGSLRPAH
   301  LGPCSDGHYQ SASGQKVTLE LKPLSTLQPG VNSGAVILGK VVFSLTTEEK VPFTFGLVDS
   361  DGPCYAVMVY NIVQSWGVLI GDSVAIPEPN LRLHRIQHKG KDYSFSSVRV ETPLLLVVNG
   421  KPQGSSSQAV ATVASRPQCE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTC5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

5.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTC5.

Disease | AllUniProt

Conditions TTC5 is implicated in, by any mechanism.

• Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism (NEDCAFD) MIM:619244

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 81 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.79

gnomAD pLI

0

gnomAD missense Z

0.53

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to starvation
• DNA damage response
• DNA repair
• positive regulation of mRNA catabolic process
• positive regulation of transcription by RNA polymerase II

Molecular functions

• chromatin binding
• DNA binding
• ribosome binding

Cellular components

• cytoplasmic vesicle
• cytosol
• mitochondrial matrix
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Tetratricopeptide-like helical domain superfamily
• Tetratricopeptide repeat
• Tetratricopeptide repeat protein 5, OB fold domain
• TTC5, OB fold domain superfamily
• Tetratricopeptide repeat protein 5 OB fold domain

KeywordsUniProt

• Cytoplasm
• Cytoplasmic vesicle
• DNA damage
• DNA repair
• Intellectual disability
• Mitochondrion
• Nucleus
• Phosphoprotein
• Repeat
• TPR repeat

InteractionsUniProt · HPA

Protein binding partners of TTC5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP5F1B
• JMY
• PRMT5