Seroatlas · Human Serome Atlas

FKTN

Ribitol-5-phosphate transferase FKTN

Also known as: FCMD, FKTN_HUMAN, LGMD2M

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

Protein identityUniProt · HPA

UniProt accession
O75072
Gene
FKTN
Ensembl
ENSG00000106692
Chromosome
9
Canonical length
461 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

461 residues, UniProt reviewed canonical sequence.

>O75072|FKTN
     1  MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF DSTQWRAVKK
    61  FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ CKFFCVPRDF TAFALQYHLW
   121  KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI DSLSGTEIPL HYICKLATHA IHLVVFHERS
   181  GNYLWHGHLR LKEHIDRKFV PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE
   241  EVPHSRFIEC RYKEARAFFQ QYLDDNTVEA VAFRKSAKEL LQLAAKTLNK LGVPFWLSSG
   301  TCLGWYRQCN IIPYSKDVDL GIFIQDYKSD IILAFQDAGL PLKHKFGKVE DSLELSFQGK
   361  DDVKLDVFFF YEETDHMWNG GTQAKTGKKF KYLFPKFTLC WTEFVDMKVH VPCETLEYIE
   421  ANYGKTWKIP VKTWDWKRSP PNVQPNGIWP ISEWDEVIQL Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FKTN 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
9.3 nTPM

Expression across tissuesHPA

Tissue

  • retina: 9.3 nTPM
  • parathyroid gland: 7 nTPM
  • pancreas: 6 nTPM
  • thyroid gland: 5.8 nTPM
  • cerebral cortex: 5.6 nTPM
  • ovary: 5.4 nTPM

Single-cell type

  • myonuclei: 125 nCPM
  • oligodendrocytes: 95 nCPM
  • pituicytes/fscs: 87 nCPM
  • early primary spermatocytes: 81 nCPM
  • adrenal cortex cells: 78 nCPM
  • brain inhibitory neurons: 78 nCPM

Immune cell

  • myeloid DC: 0.5 nTPM
  • memory CD4 T-cell: 0.3 nTPM
  • naive B-cell: 0.3 nTPM
  • naive CD4 T-cell: 0.3 nTPM
  • basophil: 0.2 nTPM
  • classical monocyte: 0.2 nTPM

Brain region

  • white matter: 13 nTPM
  • hypothalamus: 11 nTPM
  • basal ganglia: 11 nTPM
  • thalamus: 11 nTPM
  • cerebellum: 11 nTPM
  • spinal cord: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FKTN.

Disease | AllUniProt

Conditions FKTN is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) MIM:253800
  • Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4 (MDDGB4) MIM:613152
  • Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) MIM:611588
  • Cardiomyopathy, dilated, 1X (CMD1X) MIM:611615

Disease | GeneticClinVar

172 pathogenic / likely-pathogenic of 1,155 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Walker-Warburg congenital muscular dystrophy
  • Dilated cardiomyopathy 1X
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • Autosomal recessive limb-girdle muscular dystrophy type 2M
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

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)
0.84
gnomAD pLI
0
gnomAD missense Z
-0.05
DepMap mean gene effect
0.14
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 FKTN as an antibody target. Whether an autoantibody or antibody against FKTN could matter depends on whether native FKTN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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