Seroatlas · Human Serome Atlas

MTHFD1L

Monofunctional C1-tetrahydrofolate synthase, mitochondrial

Also known as: C1TM_HUMAN, DKFZP586G1517, FLJ21145, FTHFSDC1

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

Protein identityUniProt · HPA

UniProt accession
Q6UB35
Gene
MTHFD1L
Ensembl
ENSG00000120254
Chromosome
6
Canonical length
978 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]

Canonical amino-acid sequenceUniProt

978 residues, UniProt reviewed canonical sequence.

>Q6UB35|MTHFD1L
     1  MGTRLPLVLR QLRRPPQPPG PPRRLRVPCR ASSGGGGGGG GGREGLLGQR RPQDGQARSS
    61  CSPGGRTPAA RDSIVREVIQ NSKEVLSLLQ EKNPAFKPVL AIIQAGDDNL MQEINQNLAE
   121  EAGLNITHIC LPPDSSEAEI IDEILKINED TRVHGLALQI SENLFSNKVL NALKPEKDVD
   181  GVTDINLGKL VRGDAHECFV SPVAKAVIEL LEKSGVNLDG KKILVVGAHG SLEAALQCLF
   241  QRKGSMTMSI QWKTRQLQSK LHEADIVVLG SPKPEEIPLT WIQPGTTVLN CSHDFLSGKV
   301  GCGSPRIHFG GLIEEDDVIL LAAALRIQNM VSSGRRWLRE QQHRRWRLHC LKLQPLSPVP
   361  SDIEISRGQT PKAVDVLAKE IGLLADEIEI YGKSKAKVRL SVLERLKDQA DGKYVLVAGI
   421  TPTPLGEGKS TVTIGLVQAL TAHLNVNSFA CLRQPSQGPT FGVKGGAAGG GYAQVIPMEE
   481  FNLHLTGDIH AITAANNLLA AAIDTRILHE NTQTDKALYN RLVPLVNGVR EFSEIQLARL
   541  KKLGINKTDP STLTEEEVSK FARLDIDPST ITWQRVLDTN DRFLRKITIG QGNTEKGHYR
   601  QAQFDIAVAS EIMAVLALTD SLADMKARLG RMVVASDKSG QPVTADDLGV TGALTVLMKD
   661  AIKPNLMQTL EGTPVFVHAG PFANIAHGNS SVLADKIALK LVGEEGFVVT EAGFGADIGM
   721  EKFFNIKCRA SGLVPNVVVL VATVRALKMH GGGPSVTAGV PLKKEYTEEN IQLVADGCCN
   781  LQKQIQITQL FGVPVVVALN VFKTDTRAEI DLVCELAKRA GAFDAVPCYH WSVGGKGSVD
   841  LARAVREAAS KRSRFQFLYD VQVPIVDKIR TIAQAVYGAK DIELSPEAQA KIDRYTQQGF
   901  GNLPICMAKT HLSLSHQPDK KGVPRDFILP ISDVRASIGA GFIYPLVGTM STMPGLPTRP
   961  CFYDIDLDTE TEQVKGLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTHFD1L 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)
0.27
Highest tissue expression
60 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 60 nTPM
  • cerebellum: 20 nTPM
  • lung: 18 nTPM
  • ovary: 15 nTPM
  • placenta: 14 nTPM
  • bone marrow: 13 nTPM

Single-cell type

  • melanocytes: 767 nCPM
  • microglia: 648 nCPM
  • cone photoreceptor cells: 586 nCPM
  • sertoli cells: 434 nCPM
  • extravillous trophoblasts: 405 nCPM
  • epicardial cells: 343 nCPM

Immune cell

  • T-reg: 1.8 nTPM
  • myeloid DC: 1.1 nTPM
  • memory CD8 T-cell: 0.7 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • naive CD8 T-cell: 0.6 nTPM
  • naive CD4 T-cell: 0.5 nTPM

Brain region

  • cerebellum: 62 nTPM
  • white matter: 42 nTPM
  • spinal cord: 35 nTPM
  • medulla oblongata: 34 nTPM
  • pons: 31 nTPM
  • midbrain: 31 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)
0.73
gnomAD pLI
0
gnomAD missense Z
0.99
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MTHFD1L as an antibody target. Whether an autoantibody or antibody against MTHFD1L could matter depends on whether native MTHFD1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MTHFD1L 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 MTHFD1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MTHFD1L. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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