TTC1
Tetratricopeptide repeat protein 1
Also known as: TPR1, TTC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99614
- Gene
- TTC1
- Ensembl
- ENSG00000113312
- Chromosome
- 5
- Canonical length
- 292 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Canonical amino-acid sequenceUniProt
292 residues, UniProt reviewed canonical sequence.
>Q99614|TTC1
1 MGEKSENCGV PEDLLNGLKV TDTQEAECAG PPVPDPKNQH SQSKLLRDDE AHLQEDQGEE
61 ECFHDCSASF EEEPGADKVE NKSNEDVNSS ELDEEYLIEL EKNMSDEEKQ KRREESTRLK
121 EEGNEQFKKG DYIEAESSYS RALEMCPSCF QKERSILFSN RAAARMKQDK KEMAINDCSK
181 AIQLNPSYIR AILRRAELYE KTDKLDEALE DYKSILEKDP SIHQAREACM RLPKQIEERN
241 ERLKEEMLGK LKDLGNLVLR PFGLSTENFQ IKQDSSTGSY SINFVQNPNN NRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TTC1 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 85 nTPM
- midbrain: 72 nTPM
- tongue: 72 nTPM
- cerebral cortex: 71 nTPM
- amygdala: 65 nTPM
- hypothalamus: 63 nTPM
Single-cell type
- oocytes: 313 nCPM
- neutrophils: 188 nCPM
- syncytiotrophoblasts: 170 nCPM
- late primary spermatocytes: 167 nCPM
- cytotrophoblasts: 166 nCPM
- migrating cytotrophoblasts: 152 nCPM
Immune cell
- total PBMC: 116 nTPM
- eosinophil: 105 nTPM
- basophil: 103 nTPM
- neutrophil: 102 nTPM
- memory B-cell: 94 nTPM
- T-reg: 91 nTPM
Brain region
- medulla oblongata: 65 nTPM
- pons: 58 nTPM
- cerebellum: 51 nTPM
- midbrain: 50 nTPM
- hypothalamus: 47 nTPM
- cerebral cortex: 47 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TTC1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 51 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 1.11
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.66
- DepMap mean gene effect
- -1.11
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chemokine-mediated signaling pathway
- positive regulation of inflammatory response
- positive regulation of neuroinflammatory response
- protein folding
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tetratricopeptide-like helical domain superfamily
- Tetratricopeptide repeat
- Tetratricopeptide repeat
- Tetratricopeptide repeat
- Tetratricopeptide repeat domain-containing protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TTC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TTC1 as an antibody target. Whether an autoantibody or antibody against TTC1 could matter depends on whether native TTC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TTC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TTC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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