MKI67 marker of proliferation Ki-67 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MKI67provided by HGNC
Official Full Name: marker of proliferation Ki-67provided by HGNC
Primary source: HGNC:HGNC:7107
See related: Ensembl:ENSG00000148773 MIM:176741; AllianceGenome:HGNC:7107
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KIA; MIB-; MIB-1; PPP1R105
Summary: Enables protein C-terminus binding activity. Involved in regulation of chromosome segregation and regulation of mitotic nuclear division. Located in chromosome; nuclear body; and nucleolus. Colocalizes with condensed chromosome. Implicated in Crohn's disease; breast cancer; human immunodeficiency virus infectious disease; and pancreatic cancer. Biomarker of several diseases, including Barrett's esophagus; autoimmune disease of musculoskeletal system (multiple); endocrine gland cancer (multiple); gastrointestinal system cancer (multiple); and interstitial cystitis. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bone marrow (RPKM 18.5), lymph node (RPKM 8.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (128096659..128126423, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (128995212..129024955, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (129894923..129924687, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of different KRAS mutants and Ki67 expression on diagnosis and prognosis in lung adenocarcinoma.
Title: Effects of different KRAS mutants and Ki67 expression on diagnosis and prognosis in lung adenocarcinoma.
The expression of p53, ki67 and COX-2 in erosive-type oral lichen planus.
Title: The expression of p53, ki67 and COX-2 in erosive-type oral lichen planus.
Ki67 and prostate specific antigen are prognostic in metastatic hormone naive prostate cancer.
Title: Ki67 and prostate specific antigen are prognostic in metastatic hormone naïve prostate cancer.
Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.
Title: Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.
Clinicopathological Value Of Epidermal Growth Factor Receptor (EGFR) And Ki-67 Expression In Colorectal Adenoma And Adenocarcinoma.
Title: Clinicopathological Value Of Epidermal Growth Factor Receptor (EGFR) And Ki-67 Expression In Colorectal Adenoma And Adenocarcinoma.
Identifying key genes related to inflammasome in severe COVID-19 patients based on a joint model with random forest and artificial neural network.
Title: Identifying key genes related to inflammasome in severe COVID-19 patients based on a joint model with random forest and artificial neural network.
A Consensus Diagnosis Utilizing Surface KI-67 Expression as an Ancillary Marker in Low-Grade Dysplasia Helps Identify Patients at High Risk of Progression to High-Grade Dysplasia and Esophaegal Adenocarcinoma.
Title: A Consensus Diagnosis Utilizing Surface KI-67 Expression as an Ancillary Marker in Low-Grade Dysplasia Helps Identify Patients at High Risk of Progression to High-Grade Dysplasia and Esophaegal Adenocarcinoma.
Practice patterns for reporting digestive system neuroendocrine neoplasms: results from a large, comprehensive international survey.
Title: Practice patterns for reporting digestive system neuroendocrine neoplasms: results from a large, comprehensive international survey.
[Features of expression of GLUT-1 and Ki-67 proteins in various components of mixed variants of ameloblastoma].
Title: [Features of expression of GLUT-1 and Ki-67 proteins in various components of mixed variants of ameloblastoma].
Circulating tumor cells correlating with Ki-67 predicts the prognosis of bladder cancer patients.
Title: Circulating tumor cells correlating with Ki-67 predicts the prognosis of bladder cancer patients.

Submit: New GeneRIF Correction See all GeneRIFs (803)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with select biomarker traits in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 increases MK167 (Ki67) expression and inversely correlates with PRDM1 (BLIMP1) expression in activated B cells from HIV-1-infected treatment naive individuals	PubMed
HIV-1 infection decreases MKI67 expression in hippocampal sections of brain autopsy tissue	PubMed
HIV-1 upregulates MKI67(Ki-67) in CD4+ and CD8+ T lymphocytes as observed in clinical samples collected from HIV-1 infected patients	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Podocyte-specific expression of HIV-1 Nef induces loss of synaptopodin and WT1, and expression of Ki-67 in podocytes, which is essential for the dedifferentiation and proliferation of podocytes in HIV-associated nephropathy	PubMed
Pr55(Gag)	gag	Cellular biotinylated marker of proliferation Ki-67 (MKI67) protein is incorporated into HIV-1 Gag virus-like particles	PubMed
	gag	HIV-1 Gag co-localizes with Ki-67 in germinal center of HIV-1 infected patients	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-63598 (e-PCR)
- UniSTS:45066

RH1579 (e-PCR)
- UniSTS:11642

D10S2184 (e-PCR)
- UniSTS:72059

SHGC-52534 (e-PCR)
- UniSTS:81565

MKI67_7831 (e-PCR)
- UniSTS:466337

SHGC-145292 (e-PCR)
- UniSTS:174498

D10S1202 (e-PCR)
- UniSTS:40108

STS-R96656 (e-PCR)
- UniSTS:58351

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
NOT involved_in cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of chromatin organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of chromosome segregation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitotic nuclear division	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome	IDA Inferred from Direct Assay more info
colocalizes_with condensed chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: proliferation marker protein Ki-67

Names: Molecular Immunology Borstel antibody 1; antigen Ki67; antigen identified by monoclonal antibody Ki-67; proliferation-related Ki-67 antigen; protein phosphatase 1, regulatory subunit 105

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047061.1 RefSeqGene

Range

4941..34705

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145966.2 → NP_001139438.1 proliferation marker protein Ki-67 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL355529, AL390236, BU632619, BU855841, X65551

Consensus CDS

CCDS53588.1

UniProtKB/Swiss-Prot

P46013

Related

ENSP00000357642.3, ENST00000368653.7

Conserved Domains (4) summary

COG1716
Location:11 → 119

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:8 → 98

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

pfam08065
Location:643 → 752

K167R; K167R (NUC007) repeat

pfam15276
Location:143 → 185

PP1_bind; Protein phosphatase 1 binding
NM_002417.5 → NP_002408.3 proliferation marker protein Ki-67 isoform 1

See identical proteins and their annotated locations for NP_002408.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL355529, AL390236, BU632619, BU855841, X65550

Consensus CDS

CCDS7659.1

UniProtKB/Swiss-Prot

P46013, Q5VWH2

Related

ENSP00000357643.3, ENST00000368654.8

Conserved Domains (4) summary

COG1716
Location:11 → 119

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:8 → 98

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

pfam08065
Location:1003 → 1112

K167R; K167R (NUC007) repeat

pfam15276
Location:503 → 545

PP1_bind; Protein phosphatase 1 binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

128096659..128126423 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539818.3 → XP_011538120.1 proliferation marker protein Ki-67 isoform X2

Conserved Domains (2) summary

pfam08065
Location:659 → 768

K167R; K167R (NUC007) repeat

pfam15276
Location:159 → 201

PP1_bind; Protein phosphatase 1 binding
XM_006717864.4 → XP_006717927.2 proliferation marker protein Ki-67 isoform X1

Conserved Domains (1) summary

pfam08065
Location:229 → 338

K167R; K167R (NUC007) repeat