Seroatlas · Human Serome Atlas

MTHFSD

Methenyltetrahydrofolate synthase domain-containing protein

Also known as: FLJ12998, MTHSD_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q2M296
Gene: MTHFSD
Ensembl: ENSG00000103248
Chromosome: 16
Canonical length: 383 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

Enables RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

383 residues, UniProt reviewed canonical sequence.

>Q2M296|MTHFSD
     1  MEPRAVGVSK QDIREQIWGY MESQNLADFP RPVHHRIPNF KGSYLACQNI KDLDVFARTQ
    61  EVKVDPDKPL EGVRLLVLQS KKTLLVPTPR LRTGLFNKIT PPPGATKDIL RKCATSQGVR
   121  NYSVPIGLDS RVLVDLVVVG SVAVSEKGWR IGKGEGYADL EYAMMVSMGA VSKETPVVTI
   181  VHDCQVVDIP EELVEEHDIT VDYILTPTRV IATGCKRPKP MGITWFKISL EMMEKIPILR
   241  SLRAREQQAG KDVTLQGEHQ HLPEPGCQQT VPLSVGRRPP DTPGPETNSM EAAPGSPPGE
   301  GAPLAADVYV GNLPGDARVS DLKRALRELG SVPLRLTWQG PRRRAFLHYP DSAAAQQAVS
   361  CLQGLRLGTD TLRVALARQQ RDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTHFSD 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): 0.33
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

testis: 17 nTPM
fallopian tube: 12 nTPM
skin: 12 nTPM
parathyroid gland: 11 nTPM
tonsil: 11 nTPM
lymph node: 11 nTPM

Single-cell type

early spermatids: 36 nCPM
late primary spermatocytes: 30 nCPM
late spermatids: 28 nCPM
ependymal cells: 25 nCPM
podocytes: 24 nCPM
lactotrophs: 21 nCPM

Immune cell

NK-cell: 6.3 nTPM
myeloid DC: 6 nTPM
basophil: 5.9 nTPM
memory CD4 T-cell: 5.2 nTPM
MAIT T-cell: 5 nTPM
naive CD8 T-cell: 5 nTPM

Brain region

white matter: 25 nTPM
choroid plexus: 22 nTPM
thalamus: 20 nTPM
medulla oblongata: 19 nTPM
pons: 19 nTPM
basal ganglia: 19 nTPM

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): 1.71
gnomAD pLI: 0
gnomAD missense Z: -0.98
DepMap mean gene effect: -0.02
DepMap dependency class: none

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

Molecular functions

RNA binding

Cellular components

cytoplasm

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

RNA-binding

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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