KNL1

Gene

kinetochore scaffold 1

HGNCHGNC:24054 EnsemblENSG00000137812 NCBI Gene57082

Locus: gene with protein productLocation: 15q15.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asMCPH4 · CASC5 · D40 · AF15Q14 · CT29 · KIAA1570 · hKNL-1 · hSpc105 · PPP1R55 · Spc7

View full nomenclature history (16)

Previous symbolsMCPH4, CASC5

Alias symbolsD40, AF15Q14, CT29, KIAA1570, hKNL-1, hSpc105, PPP1R55, Spc7

Previous namesmicrocephaly, primary autosomal recessive 4, cancer susceptibility candidate 5

Alias namescancer/testis antigen 29, kinetochore null 1 homolog (C. elegans), blinkin, bub-linking kinetochore protein, protein phosphatase 1, regulatory subunit 55

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Autosomal recessive primary microcephaly

Genetic Diseases, Inborn

Colorectal adenocarcinoma

Cutaneous melanoma

Colonic Neoplasms

Gastric carcinoma

Skin squamous cell carcinoma

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Protein phosphatase 1 regulatory subunitsKNL1 complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.