Seroatlas · Human Serome Atlas

KY

Kyphoscoliosis peptidase

Also known as: FLJ33207, KY_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8NBH2
Gene: KY
Ensembl: ENSG00000174611
Chromosome: 3
Canonical length: 661 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

661 residues, UniProt reviewed canonical sequence.

>Q8NBH2|KY
     1  MELKKDINAV SIDMLLIVHS EKRRAAQGTL SDQQANPSSL LQRGGGFQGV GNGVRRWQKL
    61  EGNDFHENLV EKQHPQQPQV ITSYNSQGTQ LTVEVHPRDA MPQLLKKFSL AKRLQGDKNG
   121  NTRPRQPGGK DAHAYPWDRS SLKSMSLDLQ QFEKLDIYAS QVTAKSGLDE LVSDLLQEAH
   181  TDLERVRAIW IWICHHIEYD IAAAQEKDRQ AFKPTDILRT QKTNCDGYAG LFERMCRLAG
   241  VQCMTVPGYS KGFGYQTGQS FSGEFDHAWN AVYLEGRWHL VDSTWGSGLV DTITSKFTFL
   301  YNEFYFLTHP ALFIEDHFPD NKNWQLLKPP QSLRQFENNM YHKSEFYNKG MLSAHPETSM
   361  IRTVNGKATV TIESCAPTLF MFMLNGKQEH GLLSLRKNGM KLEVYPPTMG THKLQIFAKG
   421  NSDIYSSVLE YTLKCNYVDM GVQLPAELHQ PVGPSWFSEQ MGIMKPSHPD PIIHTSDGRC
   481  SISFSVEEGI NVLASLHGDD GPITEETQRR YIFQLHREKQ TELKVQLPHA GKFALKIFVK
   541  KRQEPGNYIF VFNYLVCCAN TKVNWPMFPE SFGNWGQDNE LLEPLSGVLP ANRNVPFKLK
   601  LHGIAKVLVK GQDTWPLTLN HEGYWEGSCS TAGCQEVYVM VLENANHNFY SYILKYKVNA
   661  Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KY 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): 0.34
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

tongue: 26 nTPM
skeletal muscle: 15 nTPM
skin: 9 nTPM
pituitary gland: 5.1 nTPM
heart muscle: 4 nTPM
smooth muscle: 3.9 nTPM

Single-cell type

cardiomyocytes: 117 nCPM
lactotrophs: 84 nCPM
corticotrophs: 68 nCPM
thyrotrophs: 52 nCPM
oligodendrocyte progenitor cells: 48 nCPM
retinal ganglion cells: 39 nCPM

Immune cell

basophil: 5.7 nTPM
neutrophil: 2.2 nTPM
eosinophil: 0.9 nTPM
classical monocyte: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebral cortex: 8.3 nTPM
midbrain: 6.8 nTPM
pons: 6.4 nTPM
thalamus: 6.3 nTPM
medulla oblongata: 6.2 nTPM
white matter: 5.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KY.

Disease | AllUniProt

Conditions KY is implicated in, by any mechanism.

Myopathy, myofibrillar, 7 (MFM7) MIM:617114

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myofibrillar myopathy 7
Hereditary spastic paraplegia

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): 0.89
gnomAD pLI: 0
gnomAD missense Z: 0.83
DepMap mean gene effect: -0.01
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

Molecular functions

peptidase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Transglutaminase-like
Papain-like cysteine peptidase superfamily
Transglutaminase-like superfamily
Cytoskeleton-associated protease/Cytokinesis protein
KY-like, immunoglobulin-like domain
KY-like, immunoglobulin-like domain

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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