Seroatlas · Human Serome Atlas

FRG1

Protein FRG1

Also known as: FRG1_HUMAN, FRG1A, FSG1

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

Protein identityUniProt · HPA

UniProt accession: Q14331
Gene: FRG1
Ensembl: ENSG00000109536
Chromosome: 4
Canonical length: 258 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Quaternary structure: Homotetramer

OverviewNCBI Gene

This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

258 residues, UniProt reviewed canonical sequence.

>Q14331|FRG1
     1  MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV TNFGEISGTI
    61  AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV KLSDSRIALK SGYGKYLGIN
   121  SDGLVVGRSD AIGPREQWEP VFQNGKMALL ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI
   181  RSCAERETKK KDDIPEEDKG NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL
   241  HETLLDRRAK LKADRYCK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FRG1 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): 0.39
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 45 nTPM
adipose tissue: 39 nTPM
colon: 37 nTPM
breast: 36 nTPM
endometrium: 34 nTPM
ovary: 34 nTPM

Single-cell type

oocytes: 120 nCPM
esophageal apical cells: 64 nCPM
decidual stromal cells: 53 nCPM
cytotrophoblasts: 50 nCPM
extravillous trophoblasts: 45 nCPM
hofbauer cells: 44 nCPM

Immune cell

basophil: 32 nTPM
T-reg: 20 nTPM
eosinophil: 20 nTPM
non-classical monocyte: 19 nTPM
intermediate monocyte: 18 nTPM
memory B-cell: 17 nTPM

Brain region

cerebral cortex: 2.2 nTPM
white matter: 1.7 nTPM
cerebellum: 1.5 nTPM
basal ganglia: 1.3 nTPM
hypothalamus: 1.2 nTPM
pons: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FRG1.

Disease | AllUniProt

Conditions FRG1 is implicated in, by any mechanism.

Facioscapulohumeral muscular dystrophy 1 (FSHD1) MIM:158900

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 73 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pulmonary artery atresia

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): 1.31
gnomAD pLI: 0
gnomAD missense Z: 0.18
DepMap mean gene effect: -0.21
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Actin-crosslinking
Protein FRG1
FRG1-like domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FRG1 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 FRG1 as an antibody target. Whether an autoantibody or antibody against FRG1 could matter depends on whether native FRG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FRG1 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 FRG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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