Seroatlas · Human Serome Atlas

ENOSF1

Mitochondrial enolase superfamily member 1

Also known as: ENOF1_HUMAN, FUCD, HSRTSBETA, rTS, TYMSAS

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

Protein identityUniProt · HPA

UniProt accession: Q7L5Y1
Gene: ENOSF1
Ensembl: ENSG00000132199
Chromosome: 18
Canonical length: 443 aa
Protein class: Enzymes, Predicted intracellular proteins

OverviewNCBI Gene

This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

443 residues, UniProt reviewed canonical sequence.

>Q7L5Y1|ENOSF1
     1  MVRGRISRLS VRDVRFPTSL GGHGADAMHT DPDYSAAYVV IETDAEDGIK GCGITFTLGK
    61  GTEVVVCAVN ALAHHVLNKD LKDIVGDFRG FYRQLTSDGQ LRWIGPEKGV VHLATAAVLN
   121  AVWDLWAKQE GKPVWKLLVD MDPRMLVSCI DFRYITDVLT EEDALEILQK GQIGKKEREK
   181  QMLAQGYPAY TTSCAWLGYS DDTLKQLCAQ ALKDGWTRFK VKVGADLQDD MRRCQIIRDM
   241  IGPEKTLMMD ANQRWDVPEA VEWMSKLAKF KPLWIEEPTS PDDILGHATI SKALVPLGIG
   301  IATGEQCHNR VIFKQLLQAK ALQFLQIDSC RLGSVNENLS VLLMAKKFEI PVCPHAGGVG
   361  LCELVQHLII FDYISVSASL ENRVCEYVDH LHEHFKYPVM IQRASYMPPK DPGYSTEMKE
   421  ESVKKHQYPD GEVWKKLLPA QEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ENOSF1 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): 0.19
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

kidney: 14 nTPM
choroid plexus: 13 nTPM
liver: 13 nTPM
thyroid gland: 10 nTPM
adrenal gland: 9.8 nTPM
pituitary gland: 9.2 nTPM

Single-cell type

proximal tubule cells: 362 nCPM
somatotrophs: 327 nCPM
distal convoluted tubule cells: 286 nCPM
thyrotrophs: 266 nCPM
rod photoreceptor cells: 255 nCPM
oligodendrocytes: 253 nCPM

Immune cell

gdT-cell: 3.5 nTPM
naive CD8 T-cell: 3.4 nTPM
naive CD4 T-cell: 3.3 nTPM
MAIT T-cell: 2.7 nTPM
memory CD4 T-cell: 2.4 nTPM
plasmacytoid DC: 2.4 nTPM

Brain region

choroid plexus: 7.4 nTPM
white matter: 7.1 nTPM
basal ganglia: 5 nTPM
cerebral cortex: 4.4 nTPM
hypothalamus: 4.4 nTPM
thalamus: 4.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ENOSF1.

Disease | AllUniProt

Conditions ENOSF1 is implicated in, by any mechanism.

Dyskeratosis congenita, digenic (DKCD) MIM:620040

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): 1.35
gnomAD pLI: 0
gnomAD missense Z: -0.27
DepMap mean gene effect: 0.17
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

mitochondrion

Protein domainsUniProt · Pfam · InterPro

Enolase-like, N-terminal
Enolase-like, C-terminal domain superfamily
Mandelate racemase, N-terminal domain
Mandelate racemase, C-terminal domain
Mandelate racemase/muconate lactonizing enzyme, conserved site
L-fuconate dehydratase
L-rhamnonate dehydratase-like
Mandelate racemase / muconate lactonizing enzyme, N-terminal domain
Enolase C-terminal domain-like

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ENOSF1 as an antibody target. Whether an autoantibody or antibody against ENOSF1 could matter depends on whether native ENOSF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ENOSF1 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 ENOSF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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