Seroatlas · Human Serome Atlas

FTCD

Formimidoyltransferase-cyclodeaminase

Also known as: FTCD_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O95954
Gene: FTCD
Ensembl: ENSG00000160282
Chromosome: 21
Canonical length: 541 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol
Quaternary structure: Homooctamer

OverviewNCBI Gene

The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>O95954|FTCD
     1  MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT FVGPPECVVE
    61  GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS VDECVLCAQA FGQRLAEELD
   121  VPVYLYGEAA RMDSRRTLPA IRAGEYEALP KKLQQADWAP DFGPSSFVPS WGATATGARK
   181  FLIAFNINLL GTKEQAHRIA LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD
   241  FEVTALHTVY EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
   301  RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR SAAPGGGSVA
   361  AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE ASAKLTTLVD ADAEAFTAYL
   421  EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV PLTLAETVAS LWPALQELAR CGNLACRSDL
   481  QVAAKALEMG VFGAYFNVLI NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ
   541  E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FTCD 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): 0.24
Highest tissue expression: 914 nTPM

Expression across tissuesHPA

Tissue

liver: 914 nTPM
kidney: 146 nTPM
testis: 13 nTPM
basal ganglia: 11 nTPM
cerebral cortex: 6.8 nTPM
hippocampal formation: 6.2 nTPM

Single-cell type

hepatocytes: 556 nCPM
proximal tubule cells: 507 nCPM
oocytes: 405 nCPM
late spermatids: 184 nCPM
cholangiocytes: 141 nCPM
late primary spermatocytes: 128 nCPM

Immune cell

T-reg: 0.7 nTPM
naive CD4 T-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM
gdT-cell: 0.2 nTPM
memory CD4 T-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM

Brain region

basal ganglia: 12 nTPM
cerebral cortex: 9.5 nTPM
white matter: 7.6 nTPM
amygdala: 7.4 nTPM
pons: 7.3 nTPM
hippocampal formation: 6.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FTCD.

Disease | AllUniProt

Conditions FTCD is implicated in, by any mechanism.

Glutamate formiminotransferase deficiency (FIGLU-URIA) MIM:229100

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 429 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Glutamate formiminotransferase deficiency
FTCD-related disorder
Inborn genetic diseases
Sarcoma

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): 1.23
gnomAD pLI: 0
gnomAD missense Z: -0.35
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

folic acid binding
microtubule binding
formimidoyltetrahydrofolate cyclodeaminase activity
glutamate formimidoyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Formiminotransferase, N-terminal subdomain
Formiminotransferase catalytic domain superfamily
Formiminotransferase, N-terminal subdomain superfamily
Formiminotransferase-cyclodeaminase
Formiminotransferase domain, N-terminal subdomain
Formiminotransferase catalytic domain
Cyclodeaminase/cyclohydrolase
Formiminotransferase, C-terminal subdomain
Formimidoyltransferase-cyclodeaminase-like superfamily
Formiminotransferase, C-terminal subdomain superfamily
Formiminotransferase domain
Formiminotransferase-cyclodeaminase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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