Seroatlas · Human Serome Atlas

FRA10AC1

Protein FRA10AC1

Also known as: C10orf4, F10C1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q70Z53
Gene: FRA10AC1
Ensembl: ENSG00000148690
Chromosome: 10
Canonical length: 315 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

315 residues, UniProt reviewed canonical sequence.

>Q70Z53|FRA10AC1
     1  MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE
    61  ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE
   121  DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC
   181  DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC
   241  EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLRNSDE EESASESELW KGPLPETDEK
   301  SQEEEFDEYF QDLFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FRA10AC1 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): 0.51
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

midbrain: 22 nTPM
spinal cord: 22 nTPM
amygdala: 21 nTPM
basal ganglia: 21 nTPM
cerebral cortex: 18 nTPM
hippocampal formation: 18 nTPM

Single-cell type

early primary spermatocytes: 161 nCPM
late primary spermatocytes: 143 nCPM
corticotrophs: 112 nCPM
hepatocytes: 111 nCPM
somatotrophs: 106 nCPM
thyrotrophs: 105 nCPM

Immune cell

naive CD4 T-cell: 7.8 nTPM
naive CD8 T-cell: 6.7 nTPM
memory CD4 T-cell: 6.5 nTPM
naive B-cell: 6.3 nTPM
MAIT T-cell: 6 nTPM
memory CD8 T-cell: 5.9 nTPM

Brain region

white matter: 27 nTPM
basal ganglia: 26 nTPM
cerebellum: 26 nTPM
thalamus: 25 nTPM
pons: 25 nTPM
medulla oblongata: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FRA10AC1.

Disease | AllUniProt

Conditions FRA10AC1 is implicated in, by any mechanism.

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) MIM:620113

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
See cases
Acute myeloid leukemia

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): 1.17
gnomAD pLI: 0
gnomAD missense Z: 0.47
DepMap mean gene effect: -0.05
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

Protein domainsUniProt · Pfam · InterPro

Histidine Acid Phosphatase
Folate-sensitive fragile site protein Fra10Ac1
Folate-sensitive fragile site protein Fra10Ac1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FRA10AC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FRA10AC1 as an antibody target. Whether an autoantibody or antibody against FRA10AC1 could matter depends on whether native FRA10AC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FRA10AC1 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 FRA10AC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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