Seroatlas · Human Serome Atlas

TAMM41

Phosphatidate cytidylyltransferase, mitochondrial

Also known as: C3orf31, DKFZp434E0519, MGC16471, TAM41_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96BW9
Gene: TAMM41
Ensembl: ENSG00000144559
Chromosome: 3
Canonical length: 452 aa
Protein class: Enzymes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylglycerol biosynthetic process and cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

452 residues, UniProt reviewed canonical sequence.

>Q96BW9|TAMM41
     1  MALQTLQSSW VTFRKILSHF PEELSLAFVY GSGVYRQAGP SSDQKNAMLD FVFTVDDPVA
    61  WHSKNLKKNW SHYSFLKVLG PKIITSIQNN YGAGVYYNSL IMCNGRLIKY GVISTNVLIE
   121  DLLNWNNLYI AGRLQKPVKI ISVNEDVTLR SALDRNLKSA VTAAFLMLPE SFSEEDLFIE
   181  IAGLSYSGDF RMVVGEDKTK VLNIVKPNIA HFRELYGSIL QENPQVVYKS QQGWLEIDKS
   241  PEGQFTQLMT LPKTLQQQIN HIMDPPGKNR DVEETLFQVA HDPDCGDVVR LGLSAIVRPS
   301  SIRQSTKGIF TAGKSFGNPC VTYLLTEWLP HSWLQCKALY LLGACEMLSF DGHKLGYCSK
   361  VQTGITAAEP GGRTMSDHWQ CCWKLYCPSE FSETLPVCRV FPSYCFIYQS YRCIGLQKQQ
   421  HLCSPSSSPS LRQLLPSVLV GYFCCYCHFS KW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TAMM41 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): 0.37
Highest tissue expression: 9.8 nTPM

Expression across tissuesHPA

Tissue

ovary: 9.8 nTPM
skin: 9.1 nTPM
epididymis: 8.5 nTPM
basal ganglia: 8.1 nTPM
skeletal muscle: 7.9 nTPM
esophagus: 7.8 nTPM

Single-cell type

distal convoluted tubule cells: 71 nCPM
renal connecting tubule cells: 67 nCPM
choroid plexus epithelial cells: 65 nCPM
brain inhibitory neurons: 59 nCPM
oligodendrocyte progenitor cells: 56 nCPM
proximal tubule cells: 56 nCPM

Immune cell

memory CD4 T-cell: 10 nTPM
naive CD4 T-cell: 9.2 nTPM
naive CD8 T-cell: 9 nTPM
myeloid DC: 8.7 nTPM
eosinophil: 8.4 nTPM
T-reg: 8.3 nTPM

Brain region

cerebral cortex: 19 nTPM
hypothalamus: 18 nTPM
cerebellum: 17 nTPM
basal ganglia: 16 nTPM
white matter: 16 nTPM
amygdala: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TAMM41.

Disease | AllUniProt

Conditions TAMM41 is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 56 (COXPD56) MIM:620139

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 74 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Combined oxidative phosphorylation deficiency 56
Dysphagia
Bilateral ptosis
Gastroesophageal reflux
Respiratory failure

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): 1.06
gnomAD pLI: 0
gnomAD missense Z: -0.01
DepMap mean gene effect: -0.66
DepMap dependency class: common

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

Molecular functions

phosphatidate cytidylyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Phosphatidate cytidylyltransferase, mitochondrial
Phosphatidate cytidylyltransferase, mitochondrial

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TAMM41 as an antibody target. Whether an autoantibody or antibody against TAMM41 could matter depends on whether native TAMM41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TAMM41 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 TAMM41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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