CENPF centromere protein F [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPFprovided by HGNC
Official Full Name: centromere protein Fprovided by HGNC
Primary source: HGNC:HGNC:1857
See related: Ensembl:ENSG00000117724 MIM:600236; AllianceGenome:HGNC:1857
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: CENF; hcp-1; CILD31; STROMS; PRO1779
Summary: This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]
Expression: Broad expression in bone marrow (RPKM 9.7), testis (RPKM 6.0) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q41

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (214603195..214664571)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (213842449..213903796)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (214776538..214837914)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

CENPF Upregulation is Associated with Immunosuppressive Status and Poor Clinical Outcomes in Lung Adenocarcinoma Validated by qRT-PCR.
Title: CENPF Upregulation is Associated with Immunosuppressive Status and Poor Clinical Outcomes in Lung Adenocarcinoma Validated by qRT-PCR.
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Stromme Syndrome.
Title: Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
[Heterogeneity analysis of pancreatic cancer and identification of molecular subtypes of tumor cells based on CEACAM5, LGALS1 and CENPF gene expression].
Title: [Heterogeneity analysis of pancreatic cancer and identification of molecular subtypes of tumor cells based on CEACAM5, LGALS1 and CENPF gene expression].
Long Non-Coding RNA Small Nucleolar RNA Host Gene 4 Induced by Transcription Factor SP1 Promoted the Progression of Nasopharyngeal Carcinoma Through Modulating microRNA-510-5p/Centromere Protein F Axis.
Title: Long Non-Coding RNA Small Nucleolar RNA Host Gene 4 Induced by Transcription Factor SP1 Promoted the Progression of Nasopharyngeal Carcinoma Through Modulating microRNA-510-5p/Centromere Protein F Axis.
Integrated pan-cancer analysis of centromere protein F and experimental verification of its role and clinical significance in cholangiocarcinoma.
Title: Integrated pan-cancer analysis of centromere protein F and experimental verification of its role and clinical significance in cholangiocarcinoma.
CENPF knockdown inhibits adriamycin chemoresistance in triple-negative breast cancer via the Rb-E2F1 axis.
Title: CENPF knockdown inhibits adriamycin chemoresistance in triple-negative breast cancer via the Rb-E2F1 axis.
Hsa_circ_0002082 up-regulates Centromere Protein F via abolishing miR-508-3p to promote breast cancer progression.
Title: Hsa_circ_0002082 up-regulates Centromere Protein F via abolishing miR-508-3p to promote breast cancer progression.
Biallelic variants in CENPF causing a phenotype distinct from Stromme syndrome.
Title: Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Centromere protein F promotes progression of hepatocellular carcinoma through ERK and cell cycle-associated pathways.
Title: Centromere protein F promotes progression of hepatocellular carcinoma through ERK and cell cycle-associated pathways.
CENPF/CDK1 signaling pathway enhances the progression of adrenocortical carcinoma by regulating the G2/M-phase cell cycle.
Title: CENPF/CDK1 signaling pathway enhances the progression of adrenocortical carcinoma by regulating the G2/M-phase cell cycle.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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

Associated conditions

Description	Tests
Stromme syndrome MedGen: C1855705 OMIM: 243605 GeneReviews: Stromme Syndrome	Compare labs

EBI GWAS Catalog

Description
Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates CENPF in HeLa cells within 12 hours of exposure	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16564 (e-PCR)
- UniSTS:36617

RH47698 (e-PCR)
- UniSTS:37145

SHGC-33480 (e-PCR)
- UniSTS:76342

D1S3278 (e-PCR)
- UniSTS:67960

SHGC-36458 (e-PCR)
- UniSTS:12153

REN97317 (e-PCR)
- UniSTS:422115

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	NAS Non-traceable Author Statement more info	PubMed
enables dynein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kinetochore assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in metaphase chromosome alignment	IBA Inferred from Biological aspect of Ancestor more info
involved_in metaphase chromosome alignment	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of G2/M transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of striated muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to xenobiotic stimulus	NAS Non-traceable Author Statement more info	PubMed
involved_in ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	IEA Inferred from Electronic Annotation more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
part_of chromatin	NAS Non-traceable Author Statement more info	PubMed
is_active_in chromosome, centromeric region	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
part_of ciliary transition fiber	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
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
part_of outer kinetochore	IDA Inferred from Direct Assay more info	PubMed
part_of outer kinetochore	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in pronucleus	IEA Inferred from Electronic Annotation more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle pole	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: centromere protein F

Names: AH antigen; CENP-F kinetochore protein; cell-cycle-dependent 350K nuclear protein; centromere protein F, 350/400kDa; kinetochore protein CENPF; mitosin

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_046787.1 RefSeqGene

Range

5017..66393

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016343.4 → NP_057427.3 centromere protein F

See identical proteins and their annotated locations for NP_057427.3

Status: REVIEWED

Source sequence(s)

BG680819, BQ774943, BU155312, BU662228, CD654009, U30872

Consensus CDS

CCDS31023.1

UniProtKB/Swiss-Prot

P49454, Q13171, Q13246, Q5VVM7

Related

ENSP00000355922.3, ENST00000366955.8

Conserved Domains (6) summary

COG1196
Location:901 → 1654

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:283 → 1160

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR04523
Location:2392 → 2887

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam10473
Location:2131 → 2270

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam10481
Location:1 → 307

CENP-F_N; Cenp-F N-terminal domain

pfam10490
Location:2967 → 3013

CENP-F_C_Rb_bdg; Rb-binding domain of kinetochore protein Cenp-F/LEK1

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

214603195..214664571

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509082.4 → XP_011507384.1 centromere protein F isoform X2

UniProtKB/TrEMBL

A0A9L9PXU7

Related

ENSP00000516538.1, ENST00000706765.1

Conserved Domains (5) summary

COG1196
Location:901 → 1654

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:283 → 1160

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam10473
Location:2131 → 2270

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam10481
Location:1 → 307

CENP-F_N; Cenp-F N-terminal domain

pfam10490
Location:2908 → 2954

CENP-F_C_Rb_bdg; Rb-binding domain of kinetochore protein Cenp-F/LEK1
XM_017000086.3 → XP_016855575.1 centromere protein F isoform X1

UniProtKB/Swiss-Prot

P49454, Q13171, Q13246, Q5VVM7

Conserved Domains (6) summary

COG1196
Location:901 → 1654

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:283 → 1160

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR04523
Location:2392 → 2887

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam10473
Location:2131 → 2270

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam10481
Location:1 → 307

CENP-F_N; Cenp-F N-terminal domain

pfam10490
Location:2967 → 3013

CENP-F_C_Rb_bdg; Rb-binding domain of kinetochore protein Cenp-F/LEK1