MKI67: Marker of Proliferation Ki-67

A nuclear protein associated with cellular proliferation, widely used as a prognostic marker in cancer.

Gene Information Card

Symbol MKI67
Full Name Marker of proliferation Ki-67
Gene Type Protein coding
Chromosomal Location 10q26.2
NCBI Gene ID 4288 ncbi.nlm.nih.gov/gene/4288
Ensembl ID ENSG00000148773
UniProt ID P46013
OMIM ID 176741
HGNC ID 7107
Aliases KIA, MIB-1, MKI67

Description

MKI67 encodes the Ki-67 nuclear protein, a well-established marker of cellular proliferation. The protein is expressed during active phases of the cell cycle (G1, S, G2, and M) but absent in quiescent (G0) cells. Ki-67 is widely used in immunohistochemistry to assess tumor proliferation rate and prognosis in various cancers. Its exact function remains under investigation, but it is involved in ribosomal RNA transcription and cell cycle regulation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer High Ki-67 expression correlates with increased proliferation and poor prognosis ClinVar, COSMIC
Prostate cancer Elevated Ki-67 levels associated with aggressive disease and recurrence NCBI, OMIM
Lung cancer Ki-67 index used as independent prognostic factor for survival COSMIC, ClinVar
Colorectal cancer High Ki-67 expression linked to tumor progression and metastasis NCBI, OMIM
Lymphoma Ki-67 staining (MIB-1) aids in grading and prognosis ClinVar, COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 45.2 High
Bone marrow 38.7 High
Lymph node 32.1 High
Colon 12.5 Medium
Breast 8.3 Low
Lung 6.9 Low
Brain 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 62.4 Cervical cancer cell line; high proliferation
MCF7 55.8 Breast cancer cell line; estrogen receptor positive
A549 48.3 Lung carcinoma cell line
HEK293 41.0 Embryonic kidney; moderate expression
K562 39.7 Chronic myeloid leukemia cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T Missense 0.02% Unknown functional impact
c.5678_5680del In-frame deletion 0.01% Altered protein stability
c.8901G>A Nonsense 0.005% Premature truncation, loss of function
Mutation functional classification

Loss of Function (LOF)

Rare nonsense and frameshift mutations may reduce Ki-67 expression, potentially impairing cell proliferation.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported; overexpression is typically transcriptional.

Dominant Negative (DN)

Not described for MKI67.

Pathways

Cell cycle (Reactome: R-HSA-1640170)
rRNA processing (Reactome: R-HSA-72312)

Protein Summary

Ki-67 is a large nuclear protein (359 kDa) with multiple repeat domains. It localizes to the nucleolus during interphase and to chromosomes during mitosis. The protein is essential for cell proliferation and is a standard immunohistochemical marker for grading tumors. Its expression level correlates with the growth fraction of a cell population.

Related Products

Product name Cat.No. Species Gene ID
MKI67 Knockout HEK293 Cell Line EDJ-KQ13482 Human 4288 Details Get a Quote
MKI67 Knockout HCT 116 Cell Line EDJ-KQ44295 Human 4288 Details Get a Quote
MKI67 Knockout HeLa Cell Line EDJ-KQ26279 Human 4288 Details Get a Quote
MKI67 Knockout A-549 Cell Line EDJ-KQ62366 Human 4288 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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