KNSTRN
Small kinetochore-associated protein
Also known as: C15orf23, FLJ14502, kinastrin, SKAP, SKAP_HUMAN, TRAF4AF1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y448
- Gene
- KNSTRN
- Ensembl
- ENSG00000128944
- Chromosome
- 15
- Canonical length
- 316 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Mitotic spindle,Centriolar satellite
OverviewNCBI Gene
Enables microtubule plus-end binding activity and protein homodimerization activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
316 residues, UniProt reviewed canonical sequence.
>Q9Y448|KNSTRN
1 MAAPEAPPLD RVFRTTWLST ECDSHPLPPS YRKFLFETQA ADLAGGTTVA AGNLLNESEK
61 DCGQDRRAPG VQPCRLVTMT SVVKTVYSLQ PPSALSGGQP ADTQTRATSK SLLPVRSKEV
121 DVSKQLHSGG PENDVTKITK LRRENGQMKA TDTATRRNVR KGYKPLSKQK SEEELKDKNQ
181 LLEAVNKQLH QKLTETQGEL KDLTQKVELL EKFRDNCLAI LESKGLDPAL GSETLASRQE
241 STTDHMDSML LLETLQEELK LFNETAKKQM EELQALKVKL EMKEERVRFL EQQTLCNNQV
301 NDLTTALKEM EQLLEMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KNSTRN 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)
- 0.62
- Highest tissue expression
- 59 nTPM
Expression across tissuesHPA
Tissue
- testis: 59 nTPM
- thyroid gland: 51 nTPM
- thymus: 24 nTPM
- tonsil: 15 nTPM
- breast: 13 nTPM
- bone marrow: 13 nTPM
Single-cell type
- late spermatids: 940 nCPM
- early spermatids: 405 nCPM
- late primary spermatocytes: 261 nCPM
- extravillous trophoblasts: 47 nCPM
- early primary spermatocytes: 43 nCPM
- monocyte progenitors: 35 nCPM
Immune cell
- non-classical monocyte: 48 nTPM
- intermediate monocyte: 24 nTPM
- myeloid DC: 18 nTPM
- classical monocyte: 18 nTPM
- eosinophil: 17 nTPM
- basophil: 13 nTPM
Brain region
- cerebellum: 12 nTPM
- white matter: 12 nTPM
- cerebral cortex: 12 nTPM
- pons: 9.7 nTPM
- basal ganglia: 9.6 nTPM
- hypothalamus: 9.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KNSTRN.
Disease | AllUniProt
Conditions KNSTRN is implicated in, by any mechanism.
- Roifman-Chitayat syndrome (ROCHIS) MIM:613328
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 85 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)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.46
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
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
- cell division
- cell migration
- cellular response to epidermal growth factor stimulus
- chromosome segregation
- microtubule cytoskeleton organization
- mitotic sister chromatid segregation
- regulation of attachment of spindle microtubules to kinetochore
- spindle organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Small kinetochore-associated protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KNSTRN 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 KNSTRN as an antibody target. Whether an autoantibody or antibody against KNSTRN could matter depends on whether native KNSTRN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KNSTRN 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 KNSTRN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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