Seroatlas · Human Serome Atlas

FKRP

Ribitol 5-phosphate transferase FKRP

Also known as: FKRP_HUMAN, FKTR, LGMD2I, MDC1C

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

Protein identityUniProt · HPA

UniProt accession
Q9H9S5
Gene
FKRP
Ensembl
ENSG00000181027
Chromosome
19
Canonical length
495 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Cytosol
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

495 residues, UniProt reviewed canonical sequence.

>Q9H9S5|FKRP
     1  MRLTRCQAAL AAAITLNLLV LFYVSWLQHQ PRNSRARGPR RASAAGPRVT VLVREFEAFD
    61  NAVPELVDSF LQQDPAQPVV VAADTLPYPP LALPRIPNVR LALLQPALDR PAAASRPETY
   121  VATEFVALVP DGARAEAPGL LERMVEALRA GSARLVAAPV ATANPARCLA LNVSLREWTA
   181  RYGAAPAAPR CDALDGDAVV LLRARDLFNL SAPLARPVGT SLFLQTALRG WAVQLLDLTF
   241  AAARQPPLAT AHARWKAERE GRARRAALLR ALGIRLVSWE GGRLEWFGCN KETTRCFGTV
   301  VGDTPAYLYE ERWTPPCCLR ALRETARYVV GVLEAAGVRY WLEGGSLLGA ARHGDIIPWD
   361  YDVDLGIYLE DVGNCEQLRG AEAGSVVDER GFVWEKAVEG DFFRVQYSES NHLHVDLWPF
   421  YPRNGVMTKD TWLDHRQDVE FPEHFLQPLV PLPFAGFVAQ APNNYRRFLE LKFGPGVIEN
   481  PQYPNPALLS LTGSG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FKRP 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
18 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 18 nTPM
  • pituitary gland: 16 nTPM
  • heart muscle: 15 nTPM
  • spleen: 14 nTPM
  • blood vessel: 14 nTPM
  • endometrium: 14 nTPM

Single-cell type

  • epididymal basal cells: 46 nCPM
  • salivary myoepithelial cells: 44 nCPM
  • epicardial cells: 36 nCPM
  • late primary spermatocytes: 36 nCPM
  • thymocytes: 36 nCPM
  • adipocytes: 32 nCPM

Immune cell

  • naive B-cell: 2.4 nTPM
  • neutrophil: 2.3 nTPM
  • NK-cell: 2 nTPM
  • plasmacytoid DC: 2 nTPM
  • classical monocyte: 1.8 nTPM
  • memory B-cell: 1.7 nTPM

Brain region

  • cerebral cortex: 40 nTPM
  • hypothalamus: 38 nTPM
  • medulla oblongata: 38 nTPM
  • pons: 35 nTPM
  • amygdala: 34 nTPM
  • white matter: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FKRP.

Disease | AllUniProt

Conditions FKRP is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) MIM:613153
  • Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) MIM:606612
  • Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) MIM:607155

Disease | GeneticClinVar

228 pathogenic / likely-pathogenic of 1,234 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.32
gnomAD pLI
0
gnomAD missense Z
1.85
DepMap mean gene effect
0.02
DepMap dependency class
selective

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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

FKRP is annotated at the cell surface, where native FKRP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label FKRP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FKRP. 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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