TTC19

Protein identityUniProt · HPA

UniProt accession

Q6DKK2

Gene

TTC19

Ensembl

ENSG00000011295

Chromosome

17

Canonical length

380 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]

Canonical amino-acid sequenceUniProt

380 residues, UniProt reviewed canonical sequence.

>Q6DKK2|TTC19
     1  MFRLLSWSLG RGFLRAAGRR CRGCSARLLP GLAGGPGPEV QVPPSRVAPH GRGPGLLPLL
    61  AALAWFSRPA AAEEEEQQGA DGAAAEDGAD EAEAEIIQLL KRAKLSIMKD EPEEAELILH
   121  DALRLAYQTD NKKAITYTYD LMANLAFIRG QLENAEQLFK ATMSYLLGGG MKQEDNAIIE
   181  ISLKLASIYA AQNRQEFAVA GYEFCISTLE EKIEREKELA EDIMSVEEKA NTHLLLGMCL
   241  DACARYLLFS KQPSQAQRMY EKALQISEEI QGERHPQTIV LMSDLATTLD AQGRFDEAYI
   301  YMQRASDLAR QINHPELHMV LSNLAAVLMH RERYTQAKEI YQEALKQAKL KKDEISVQHI
   361  REELAELSKK SRPLTNSVKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTC19 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)

0.36

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTC19.

Disease | AllUniProt

Conditions TTC19 is implicated in, by any mechanism.

• Mitochondrial complex III deficiency, nuclear type 2 (MC3DN2) MIM:615157

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 374 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex III deficiency nuclear type 2
• Inborn genetic diseases
• Autism
• Mitochondrial disease

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)

1.12

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.25

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex III assembly
• mitotic cytokinesis

Cellular components

• centrosome
• midbody
• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Tetratricopeptide-like helical domain superfamily
• Tetratricopeptide repeat
• Tetratricopeptide repeat
• Tetratricopeptide repeat
• Tetratricopeptide repeat protein 19

KeywordsUniProt

• Cell cycle
• Cell division
• Electron transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Repeat
• Respiratory chain
• TPR repeat
• Transit peptide
• Transport

InteractionsUniProt · HPA

Protein binding partners of TTC19 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CHMP4B
• UQCRC1
• UQCRFS1
• ZFYVE26
• GPANK1
• TCAP