FKBP6
Inactive peptidyl-prolyl cis-trans isomerase FKBP6
Also known as: FKBP36, FKBP6_HUMAN, PPIase
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75344
- Gene
- FKBP6
- Ensembl
- ENSG00000077800
- Chromosome
- 7
- Canonical length
- 327 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoli fibrillar center,Microtubules,Cytokinetic bridge,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
327 residues, UniProt reviewed canonical sequence.
>O75344|FKBP6
1 MGGSALNQGV LEGDDAPGQS LYERLSQRML DISGDRGVLK DVIREGAGDL VAPDASVLVK
61 YSGYLEHMDR PFDSNYFRKT PRLMKLGEDI TLWGMELGLL SMRRGELARF LFKPNYAYGT
121 LGCPPLIPPN TTVLFEIELL DFLDCAESDK FCALSAEQQD QFPLQKVLKV AATEREFGNY
181 LFRQNRFYDA KVRYKRALLL LRRRSAPPEE QHLVEAAKLP VLLNLSFTYL KLDRPTIALC
241 YGEQALIIDQ KNAKALFRCG QACLLLTEYQ KARDFLVRAQ KEQPFNHDIN NELKKLASCY
301 RDYVDKEKEM WHRMFAPCGD GSTAGESLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FKBP6 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)
- 0.32
- Highest tissue expression
- 53 nTPM
Expression across tissuesHPA
Tissue
- testis: 53 nTPM
- ovary: 0.3 nTPM
- bone marrow: 0.2 nTPM
- cerebellum: 0.2 nTPM
- duodenum: 0.2 nTPM
- fallopian tube: 0.2 nTPM
Single-cell type
- early primary spermatocytes: 126 nCPM
- late primary spermatocytes: 125 nCPM
- oocytes: 41 nCPM
- early spermatids: 39 nCPM
- undifferentiated spermatogonia: 35 nCPM
- differentiating spermatogonia: 34 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- pons: 0.4 nTPM
- basal ganglia: 0.2 nTPM
- cerebellum: 0.2 nTPM
- cerebral cortex: 0.2 nTPM
- choroid plexus: 0.2 nTPM
- medulla oblongata: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FKBP6.
Disease | AllUniProt
Conditions FKBP6 is implicated in, by any mechanism.
- Spermatogenic failure 77 (SPGF77) MIM:620103
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 50 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 77
- Male infertility
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)
- 1.03
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- 0.25
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- meiotic cell cycle
- piRNA processing
- positive regulation of viral genome replication
- protein folding
- regulatory ncRNA-mediated gene silencing
- spermatogenesis
- transposable element silencing by piRNA-mediated DNA methylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- FKBP-type peptidyl-prolyl cis-trans isomerase domain
- Tetratricopeptide-like helical domain superfamily
- Tetratricopeptide repeat
- Peptidyl-prolyl cis-trans isomerase domain superfamily
- FKBP-type peptidyl-prolyl cis-trans isomerase
- Inactive peptidyl-prolyl cis-trans isomerase FKBP6/shutdown
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FKBP6 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 FKBP6 as an antibody target. Whether an autoantibody or antibody against FKBP6 could matter depends on whether native FKBP6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FKBP6 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 FKBP6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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