Seroatlas · Human Serome Atlas

TIMMDC1

Complex I assembly factor TIMMDC1, mitochondrial

Also known as: C3orf1, FLJ22597, TIDC1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NPL8
Gene: TIMMDC1
Ensembl: ENSG00000113845
Chromosome: 3
Canonical length: 285 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

285 residues, UniProt reviewed canonical sequence.

>Q9NPL8|TIMMDC1
     1  MEVPPPAPRS FLCRALCLFP RVFAAEAVTA DSEVLEERQK RLPYVPEPYY PESGWDRLRE
    61  LFGKDEQQRI SKDLANICKT AATAGIIGWV YGGIPAFIHA KQQYIEQSQA EIYHNRFDAV
   121  QSAHRAATRG FIRYGWRWGW RTAVFVTIFN TVNTSLNVYR NKDALSHFVI AGAVTGSLFR
   181  INVGLRGLVA GGIIGALLGT PVGGLLMAFQ KYSGETVQER KQKDRKALHE LKLEEWKGRL
   241  QVTEHLPEKI ESSLQEDEPE NDAKKIEALL NLPRNPSVID KQDKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TIMMDC1 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: 4
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

tongue: 46 nTPM
heart muscle: 41 nTPM
skeletal muscle: 27 nTPM
parathyroid gland: 22 nTPM
seminal vesicle: 19 nTPM
thyroid gland: 18 nTPM

Single-cell type

syncytiotrophoblasts: 218 nCPM
cytotrophoblasts: 196 nCPM
esophageal suprabasal cells: 157 nCPM
esophageal apical cells: 155 nCPM
migrating cytotrophoblasts: 151 nCPM
extravillous trophoblasts: 140 nCPM

Immune cell

total PBMC: 22 nTPM
eosinophil: 21 nTPM
non-classical monocyte: 21 nTPM
T-reg: 21 nTPM
classical monocyte: 18 nTPM
intermediate monocyte: 18 nTPM

Brain region

white matter: 9 nTPM
medulla oblongata: 8.6 nTPM
basal ganglia: 8.4 nTPM
cerebellum: 8.4 nTPM
thalamus: 8.3 nTPM
spinal cord: 7.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TIMMDC1.

Disease | AllUniProt

Conditions TIMMDC1 is implicated in, by any mechanism.

Mitochondrial complex I deficiency, nuclear type 31 (MC1DN31) MIM:618251

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 152 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial complex I deficiency, nuclear type 31
Mitochondrial complex I deficiency, nuclear type 1

Disease | ImmuneIEDB

Conditions an epitope on TIMMDC1 was assayed in.

human immunodeficiency virus infectious disease T cell

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): 1.27
gnomAD pLI: 0
gnomAD missense Z: 0
DepMap mean gene effect: -0.35
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

mitochondrial respiratory chain complex I assembly

Cellular components

Protein domainsUniProt · Pfam · InterPro

Tim17/Tim22/Tim23/Pmp24 family
Complex I assembly factor TIMMDC1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TIMMDC1 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 TIMMDC1 as an antibody target. Whether an autoantibody or antibody against TIMMDC1 could matter depends on whether native TIMMDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TIMMDC1 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 TIMMDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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