Seroatlas · Human Serome Atlas

TACO1

Translational activator of cytochrome c oxidase 1

Also known as: CCDC44, TACO1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BSH4
Gene: TACO1
Ensembl: ENSG00000136463
Chromosome: 17
Canonical length: 297 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>Q9BSH4|TACO1
     1  MSAWAAASLS RAAARCLLAR GPGVRAAPPR DPRPSHPEPR GCGAAPGRTL HFTAAVPAGH
    61  NKWSKVRHIK GPKDVERSRI FSKLCLNIRL AVKEGGPNPE HNSNLANILE VCRSKHMPKS
   121  TIETALKMEK SKDTYLLYEG RGPGGSSLLI EALSNSSHKC QADIRHILNK NGGVMAVGAR
   181  HSFDKKGVIV VEVEDREKKA VNLERALEMA IEAGAEDVKE TEDEEERNVF KFICDASSLH
   241  QVRKKLDSLG LCSVSCALEF IPNSKVQLAE PDLEQAAHLI QALSNHEDVI HVYDNIE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TACO1 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): 0.39
Highest tissue expression: 42 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 42 nTPM
liver: 40 nTPM
tongue: 36 nTPM
heart muscle: 25 nTPM
choroid plexus: 19 nTPM
kidney: 18 nTPM

Single-cell type

enterocytes: 35 nCPM
enteric transient amplifying cells: 21 nCPM
colonocytes: 17 nCPM
paneth cells: 16 nCPM
enteric stem cells: 14 nCPM
parietal cells: 14 nCPM

Immune cell

NK-cell: 15 nTPM
memory CD4 T-cell: 12 nTPM
naive CD4 T-cell: 11 nTPM
myeloid DC: 9 nTPM
naive B-cell: 9 nTPM
gdT-cell: 8.9 nTPM

Brain region

cerebellum: 18 nTPM
cerebral cortex: 17 nTPM
hypothalamus: 16 nTPM
choroid plexus: 15 nTPM
medulla oblongata: 15 nTPM
midbrain: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TACO1.

Disease | AllUniProt

Conditions TACO1 is implicated in, by any mechanism.

Mitochondrial complex IV deficiency, nuclear type 8 (MC4DN8) MIM:619052

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 183 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial complex IV deficiency, nuclear type 8
Mitochondrial complex IV deficiency, nuclear type 1
Inborn genetic diseases

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): 1.09
gnomAD pLI: 0
gnomAD missense Z: 0.94
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

mitochondrion

Protein domainsUniProt · Pfam · InterPro

Integrase-like, N-terminal
Transcriptional regulator TACO1-like
Transcriptional regulator TACO1-like, domain 3
YebC-like
TACO1/YebC-like, second and third domains
TACO1/YebC-like, N-terminal domain
TACO1/YebC second and third domain
TACO1/YebC protein N-terminal domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TACO1 as an antibody target. Whether an autoantibody or antibody against TACO1 could matter depends on whether native TACO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TACO1 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 TACO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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